Affinage

SEC23B

Protein transport protein Sec23B · UniProt Q15437

Length
767 aa
Mass
86.5 kDa
Annotated
2026-06-10
83 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SEC23B is a core component of the COPII coat that drives ER-to-Golgi transport of secretory cargo, and its dysfunction underlies congenital dyserythropoietic anemia type II (CDAII), where loss-of-function mutations disrupt trafficking and cause hypoglycosylation of erythrocyte membrane proteins such as band 3 (PMID:19561605, PMID:19621418). The canonical transport function is especially critical in professional secretory tissues: complete SEC23B deficiency in mice causes perinatal death with degeneration of pancreatic acini and salivary glands, loss of zymogen granules, distended ER, and proapoptotic unfolded protein response activation, and acinar-specific or E109K-mutant models reproduce ER stress, apoptosis, and exocrine pancreatic insufficiency (PMID:22745161, PMID:28539403, PMID:34954140). SEC23B and its paralog SEC23A are biochemically interchangeable—they share interactomes, complement yeast Sec23, and a Sec23a knock-in fully rescues the lethal Sec23b pancreatic phenotype—so the distinct, tissue- and species-specific disease phenotypes reflect divergent paralog expression programs rather than intrinsic functional differences (PMID:30065114, PMID:34818036). Beyond constitutive secretion, SEC23B is regulated to support autophagy: FBXW5 targets it for proteasomal degradation under nutrient-replete conditions, while starvation-activated ULK1 phosphorylates SEC23B on Ser186 to block FBXW5 binding, stabilizing it and redirecting it (with SEC24A/SEC24B) to the ER-Golgi intermediate compartment to promote autophagosome biogenesis (PMID:30596474). Its cargo-selective transport role extends to glycosylation-dependent BMP/SMAD signaling and hepcidin regulation in hepatocytes (PMID:35163229) and to membrane delivery of the adhesion molecules EPCAM and CD9, whose loss augments cancer cell motility (PMID:32123160). Cancer-associated heterozygous variants confer a non-canonical, COPII-independent gain of function: mutant SEC23B localizes to nucleoli, binds the rDNA transcription factor UBF, and enhances ribosomal protein expression and translational capacity under ER stress, a mechanism distinct from the recessive loss-of-function CDAII alleles (PMID:29893852, PMID:26522472).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2009 High

    Established that SEC23B is a COPII coat component whose loss causes CDAII, defining the gene's disease association and a cell-autonomous erythroid requirement distinct from its paralog SEC23A.

    Evidence shRNA knockdown in human cells with cytokinesis readout, zebrafish morpholino knockdown, and patient mutation sequencing; parallel proteomic-genomic mapping linking band 3 hypoglycosylation to the CDAN2 locus

    PMID:19561605 PMID:19621418

    Open questions at the time
    • Mechanism of cytokinesis defect not resolved at molecular level
    • Trafficking disruption inferred from cellular phenotype, not biochemically reconstituted
  2. 2012 High

    Showed that SEC23B is specifically required for ER exit of abundant secretory cargo in professional secretory tissues, explaining perinatal lethality via UPR-driven secretory tissue degeneration.

    Evidence Germline Sec23b knockout mouse with EM of pancreatic acini and UPR marker immunohistochemistry, contrasting pancreas/salivary gland versus liver

    PMID:22745161

    Open questions at the time
    • Mouse lethality does not model the human erythroid phenotype
    • Cargo specificity in pancreas not defined at the individual-protein level
  3. 2014 High

    Demonstrated that the human CDAII erythroid defect is not recapitulated by cell-autonomous loss in the mouse hematopoietic compartment, pointing toward species-specific paralog usage.

    Evidence Conditional hematopoietic Sec23b knockout with competitive bone-marrow repopulation and secondary transplant assays

    PMID:25071156

    Open questions at the time
    • Does not directly identify which paralog compensates in mouse erythroid cells
    • Human-mouse divergence mechanism inferred, not demonstrated
  4. 2016 High

    Pinpointed the pancreas as the tissue responsible for germline-null lethality and confirmed SEC23B (not SEC23A) is essential for murine pancreatic development.

    Evidence Pancreas-specific Sec23b and Sec23a conditional knockouts plus BAC transgene rescue of gene-trap lethality

    PMID:27297878

    Open questions at the time
    • Basis of paralog-specific essentiality (expression vs. function) not yet resolved here
  5. 2017 High

    Established a continuing requirement for SEC23B in adult acinar cell homeostasis, not just development.

    Evidence Tamoxifen-inducible adult acinar-specific Sec23b knockout with EM, ER-stress markers, apoptosis assays, and organ quantification

    PMID:28539403

    Open questions at the time
    • Specific cargo whose mistrafficking drives ER stress not identified
  6. 2018 High

    Resolved whether SEC23A and SEC23B differ intrinsically: they are biochemically interchangeable, so disease phenotype divergence stems from transcriptional program differences across tissues and species.

    Evidence Mass spectrometry interactome comparison, yeast complementation, zebrafish rescue, and a Sec23a knock-in at the Sec23b locus rescuing the pancreatic phenotype

    PMID:30065114

    Open questions at the time
    • Regulatory basis of paralog expression switching not mapped
    • Does not address non-canonical functions of either paralog
  7. 2018 High

    Uncovered post-translational regulation coupling SEC23B abundance to nutrient status, linking COPII machinery to autophagosome biogenesis.

    Evidence Co-IP, mass spectrometry, in vitro ULK1 kinase assay on Ser186, site-directed mutagenesis, proteasome rescue, and autophagy flux assays

    PMID:30596474

    Open questions at the time
    • How SEC23B at the ERGIC mechanistically drives autophagosome formation is not detailed
    • Physiological contexts where this pathway operates not defined
  8. 2018 Medium

    Identified a non-canonical, COPII-independent nucleolar function for cancer-associated mutant SEC23B in ribosome biogenesis, separating change-of-function from loss-of-function mechanisms.

    Evidence Immunofluorescence localization, SEC23B-UBF Co-IP, ChIP at rDNA promoters, polysome profiling, and gene expression arrays in mutant cells

    PMID:29893852

    Open questions at the time
    • Single-lab data without independent replication
    • Direct biochemical basis of UBF regulation by SEC23B not established
  9. 2015 Medium

    Demonstrated that a heterozygous Cowden-associated SEC23B variant acts via an ER-stress-mediated cancer-predisposing mechanism distinct from recessive CDAII alleles.

    Evidence Sequencing plus colony formation, growth, invasion, and ER-stress marker assays for p.Val594Gly in a normal thyroid cell line

    PMID:26522472

    Open questions at the time
    • Single cell-line system, no in vivo confirmation
    • Link between ER stress and oncogenic phenotype mechanistically incomplete
  10. 2020 Medium

    Extended SEC23B's cargo-selective transport role to adhesion molecule delivery and viral particle secretion, showing functional consequences for cancer cell behavior and HBV egress.

    Evidence SEC23B deletion/mutation in CRC cells with EPCAM/CD9 membrane fractionation, invasion/xenograft assays; paralog-selective siRNA in HBV-expressing cells with secretion and interaction-mapping assays

    PMID:32017353 PMID:32123160

    Open questions at the time
    • Cargo selectivity determinants for EPCAM/CD9 versus HBV S domain not unified
    • Single-lab findings for each cargo
  11. 2021 High

    Showed paralog functional overlap in human erythroid cells and identified nuclear/nucleolar localization and ER-stress-responsive interactions of even wild-type SEC23B.

    Evidence Erythroid-specific Sec23a/Sec23b compound knockout mice, HUDEP-2 SEC23B-KO rescued by SEC23A overexpression; SEC23B nuclear localization signals, mass spectrometry interactome, and SEC23B-UBA52 Co-IP in patient lymphoblastoid lines

    PMID:33753724 PMID:34818036

    Open questions at the time
    • Functional consequence of nuclear localization for wild-type SEC23B not defined
    • Therapeutic SEC23A upregulation strategy not validated in vivo for human disease
  12. 2021 High

    Modeled the most common human CDAII mutation in mice, linking E109K to protein destabilization/mislocalization, pancreatic insufficiency, and growth hormone insensitivity of pancreatic origin.

    Evidence E109K knock-in and hemizygous compound mouse models with tissue-specific deletion controls, histology, ER-stress markers, and GH signaling analysis

    PMID:34954140

    Open questions at the time
    • Does not reconcile pancreatic-dominant mouse phenotype with erythroid-dominant human disease
    • Molecular link between SEC23B loss and GH insensitivity not fully defined
  13. 2022 Medium

    Connected SEC23B-dependent glycosylation to BMP/SMAD-driven hepcidin regulation, defining a hepatic role in iron homeostasis.

    Evidence Stable SEC23B silencing in HuH7/HepG2 with BMP/SMAD reporters, hepcidin mRNA quantification, glycosylation analysis, and SEC23A rescue

    PMID:35163229

    Open questions at the time
    • Specific BMP-sensing membrane protein dependent on SEC23B not definitively identified
    • In vivo confirmation of hepatic iron phenotype lacking

Open questions

Synthesis pass · forward-looking unresolved questions
  • How wild-type SEC23B's nuclear/nucleolar pool and its UBF/UBA52 interactions integrate with its canonical COPII transport function, and whether this constitutes a regulated physiological switch versus a mutation-specific activity, remains unresolved.
  • No structural model of SEC23B engaging nucleolar partners
  • Whether nuclear function is regulated in normal cells or only emerges with variants is unclear
  • Mechanism connecting ER stress to SEC23B nuclear accumulation undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0060090 molecular adaptor activity 2
Localization
GO:0005783 endoplasmic reticulum 3 GO:0005730 nucleolus 2 GO:0005794 Golgi apparatus 2 GO:0005634 nucleus 1 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 3 R-HSA-8953897 Cellular responses to stimuli 3 R-HSA-9609507 Protein localization 2 R-HSA-9612973 Autophagy 1
Partners
FBXW5SEC24ASEC24BUBA52UBFULK1
Complex memberships
COPII coat

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2009 SEC23B is a component of the COPII coat protein complex required for ER-to-Golgi protein transport, and loss-of-function mutations in SEC23B cause congenital dyserythropoietic anemia type II (CDAII). shRNA-mediated suppression of SEC23B in human cells recapitulates the cytokinesis defect characteristic of CDAII, and knockdown of zebrafish sec23b leads to aberrant erythrocyte development, establishing a selective role for SEC23B (vs. its paralog SEC23A) in erythroid differentiation. shRNA knockdown in human cells (cytokinesis phenotype readout), zebrafish sec23b morpholino knockdown, sequencing of patient mutations Nature genetics High 19561605
2009 SEC23B encodes a COPII coat component; mutations in SEC23B disturb ER-to-Golgi trafficking, causing hypoglycosylation of erythrocyte membrane proteins (e.g., band 3) characteristic of CDAII. Twelve distinct mutations (missense, frameshift, splicing, nonsense) were identified using a proteomic-genomic approach matching the cytoplasmic RBC proteome to the CDAN2 chromosomal locus. Sanger sequencing of patient cohort, proteomic-genomic mapping approach Human mutation Medium 19621418
2012 Complete SEC23B deficiency in mice causes perinatal death with degeneration of professional secretory tissues (pancreatic acini, salivary glands) but not liver. SEC23B-deficient exocrine pancreas shows absence of zymogen granules, severely distended ER, and activation of the proapoptotic unfolded protein response (UPR), demonstrating that SEC23B is specifically required for ER exit of highly abundant secretory cargo in professional secretory tissues. Germline Sec23b knockout mouse; electron microscopy of pancreatic acini; immunohistochemistry for UPR markers; comparison with salivary gland and liver phenotypes Proceedings of the National Academy of Sciences of the United States of America High 22745161
2014 Hematopoietic-specific SEC23B deficiency in mice does not produce anemia or other CDAII features. SEC23B-deficient hematopoietic stem cells show no competitive disadvantage in repopulation assays, demonstrating that the erythroid phenotype in human CDAII is not caused by a cell-autonomous defect detectable in the mouse hematopoietic compartment—likely reflecting an evolutionary shift in SEC23 paralog expression. Conditional hematopoietic Sec23b knockout (bone marrow transplantation); competitive repopulation assays; secondary bone marrow transplants Molecular and cellular biology High 25071156
2016 Pancreatic SEC23B deficiency alone is sufficient to explain the perinatal lethality of germline SEC23B-deficient mice. Pancreas-specific SEC23A deficiency does not cause lethality or pancreatic pathology, demonstrating that SEC23B but not SEC23A is essential for murine pancreatic development. Pancreas-specific conditional Sec23b and Sec23a knockouts; BAC transgene rescue of germline Sec23b gene-trap lethality; immunohistochemistry Scientific reports High 27297878
2017 SEC23B is required for normal function of pancreatic acinar cells in adult mice. Tamoxifen-inducible acinar-specific Sec23b deletion in adults causes pancreatic cell loss, decreased zymogen granules, ER alterations (ranging from vesicular ER to massively expanded cisternae with intracisternal granules), induction of ER stress, and increased apoptosis. Tamoxifen-inducible pancreatic acinar-cell-specific Sec23b knockout; electron microscopy; ER stress marker analysis; apoptosis assays; pancreatic weight and DNA/RNA/protein quantification Molecular biology of the cell High 28539403
2018 SEC23A and SEC23B have indistinguishable intracellular protein interactomes; both can complement yeast Sec23 and rescue zebrafish sec23b deficiency. A Sec23a coding sequence knocked into the murine Sec23b locus completely rescues the lethal SEC23B-deficient pancreatic phenotype, demonstrating functional equivalence. The distinct disease phenotypes of SEC23A/B deficiency across species are explained by evolutionary shifts in transcription program rather than intrinsic biochemical differences. Mass spectrometry interactome comparison; yeast complementation assay; zebrafish transgene rescue; Sec23a-knock-in mouse at Sec23b locus Proceedings of the National Academy of Sciences of the United States of America High 30065114
2018 The F-box protein FBXW5 targets SEC23B for proteasomal degradation, limiting autophagic flux in nutrient-replete conditions. In response to starvation, ULK1 phosphorylates SEC23B on Serine 186, preventing FBXW5 binding and thereby stabilizing SEC23B. Phosphorylated/stabilized SEC23B associates preferentially with SEC24A and SEC24B (not SEC24C or SEC24D) and relocalizes to the ER-Golgi intermediate compartment, promoting autophagosome biogenesis. Co-immunoprecipitation; mass spectrometry; in vitro kinase assay (ULK1 phosphorylation of SEC23B S186); site-directed mutagenesis; proteasome inhibitor rescue; autophagy flux assays; subcellular fractionation/localization eLife High 30596474
2018 Cancer-associated mutant SEC23B localizes to nucleoli (in addition to ER/Golgi), independently of other COPII proteins and without compromising canonical secretory function. Mutant cells show increased ribosomal protein and translation-related gene expression, enhanced translational capacity under ER stress, and increased UBF transcription factor binding at ribosomal DNA promoters. Mutant SEC23B binds UBF, suggesting a non-canonical COPII-independent function in ribosome biogenesis. Immunofluorescence/confocal microscopy for subcellular localization; Co-immunoprecipitation (SEC23B–UBF interaction); chromatin immunoprecipitation (UBF at rDNA promoter); polysome profiling; gene expression arrays Human molecular genetics Medium 29893852
2021 Wild-type SEC23B localizes to the nucleus (in addition to the ER/Golgi interface) and contains functional nuclear localization and export signals. Under proteasome inhibition, wild-type SEC23B additionally localizes to nucleoli. Unbiased proteomic analysis (mass spectrometry) shows wild-type SEC23B interacts with nuclear proteins and with central components of the ER stress, protein ubiquitination, and EIF2 signaling pathways. SEC23B levels increase in response to ER stress, and a genotype-specific differential interaction between SEC23B and UBA52 (RPL40) was validated. Immunofluorescence for nuclear/nucleolar localization; mass spectrometry proteomics of SEC23B interactome; Co-immunoprecipitation (SEC23B–UBA52); ER stress induction and Western blotting; patient-derived lymphoblastoid cell lines Cell death & disease Medium 33753724
2021 Erythroid-specific deletion of all four Sec23 alleles (both Sec23a and Sec23b) in mice causes mid-embryonic death with features of CDAII; deletion of three alleles produces a milder erythroid defect. In SEC23B-deficient human HUDEP-2 cells, CDAII features upon differentiation are rescued by increased SEC23A expression, demonstrating functional overlap between paralogs in human erythroid cells and proposing SEC23A upregulation as a therapeutic strategy. Erythroid-specific conditional double-KO (Sec23a/Sec23b) mouse; HUDEP-2 SEC23B-KO cells; SEC23A overexpression rescue; erythroid differentiation assays Science advances High 34818036
2021 The E109K missense mutation (most common human CDAII mutation) in mice leads to decreased SEC23B protein levels and protein mislocalization. Hemizygosity for E109K combined with a null allele (Sec23bki/ko) causes exocrine pancreatic insufficiency with ER stress and apoptosis, chronic pancreatitis, and severe growth restriction with growth hormone insensitivity; hepatocyte-specific Sec23b deletion does not cause growth restriction, indicating a non-hepatic (pancreatic) origin. Knockin mouse (E109K); hemizygous compound mouse model; pancreas-specific conditional KO; histology; ER stress markers; GH signaling analysis; growth measurements The Journal of biological chemistry High 34954140
2022 SEC23B loss-of-function in hepatic cells (HuH7 and HepG2 stably silenced for SEC23B) impairs glycosylation of membrane proteins involved in BMP/SMAD pathway activation (including those needed to sense BMP6), leading to suppression of hepcidin expression and altered iron homeostasis. SEC23A overexpression rescues hepcidin suppression in SEC23B-deficient hepatic cells, confirming functional paralog overlap. Stable SEC23B shRNA silencing in HuH7 and HepG2 cells; BMP/SMAD pathway reporter and Western blot; hepcidin mRNA quantification; BMP6 stimulation assays; SEC23A rescue overexpression; glycosylation analysis International journal of molecular sciences Medium 35163229
2020 SEC23B deletion in colorectal cancer cells suppresses membrane localization of adhesion proteins EPCAM and CD9, augments cell mobility and invasiveness in vitro and in vivo. SEC23B mutations (premature stop C649T, or transport-impairing C1467G and T488C+G791A+G2153A) inhibit COPII-dependent transport of EPCAM and CD9, attenuating cell adhesion. Whole-exome sequencing of patient samples; SEC23B deletion in CRC cell lines; membrane fractionation for EPCAM/CD9 localization; invasion/migration assays; xenograft mouse model Cell death & disease Medium 32123160
2020 HBV envelope S domain selectively interacts with SEC23B (and SEC24A) among COPII paralogs; silencing of SEC23B (but not other Sec23 isoforms) strongly reduces ER export of HBV envelope and subviral particle secretion. The interaction involves the N-terminal half of SEC24A and a di-arginine motif in the S domain. Yeast-based proteomics; siRNA silencing of Sec23/24 paralogs in HBV-expressing liver cells; subviral particle secretion assay; co-immunoprecipitation/interaction mapping Cellular microbiology Medium 32017353
2015 A germline heterozygous SEC23B missense variant (p.Val594Gly) associated with Cowden syndrome causes ER-stress-mediated increased cell colony formation, survival, growth, and invasion in a normal thyroid cell line, demonstrating that heterozygous change-of-function SEC23B variants have a cancer-predisposing mechanism distinct from the loss-of-function homozygous mutations causing CDAII. Whole-exome and Sanger sequencing; functional characterization of p.Val594Gly in normal thyroid cell line (NHT cells): colony formation, growth, invasion assays; ER stress marker analysis American journal of human genetics Medium 26522472
2013 Hypomorphic SEC23B alleles (with reduced but not abolished expression) are associated with milder CDAII phenotypes. The data suggest SEC23A-mediated compensation: when SEC23B expression is merely reduced rather than functionally altered, SEC23A can partially substitute, resulting in less severe clinical presentation. Sequencing of five novel hypomorphic mutations; SEC23B mRNA and protein quantification in patient erythroid precursors; clinical severity correlation Blood cells, molecules & diseases Low 23453696

Source papers

Stage 0 corpus · 83 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2009 Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nature genetics 221 19561605
2009 Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Human mutation 137 19621418
2018 The ULK1-FBXW5-SEC23B nexus controls autophagy. eLife 71 30596474
1995 Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). European journal of biochemistry 69 7607254
1977 Congenital dyserythropoietic anaemia, types I and II: aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis. British journal of haematology 69 869997
2012 SEC23B is required for the maintenance of murine professional secretory tissues. Proceedings of the National Academy of Sciences of the United States of America 68 22745161
2018 Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. Proceedings of the National Academy of Sciences of the United States of America 65 30065114
2016 Epigenetic disruption of miR-130a promotes prostate cancer by targeting SEC23B and DEPDC1. Cancer letters 58 27984115
2015 Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer. American journal of human genetics 57 26522472
1984 Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS). British journal of haematology 55 6538436
2009 Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica 50 20015893
1990 HEMPAS disease: genetic defect of glycosylation. Glycobiology 46 2136385
2014 Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B. Molecular and cellular biology 44 25071156
1997 Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). Blood 42 9354691
1983 Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II). British journal of haematology 42 6615729
1993 Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis. Bailliere's clinical haematology 40 8043936
1992 Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS). British journal of haematology 39 1482662
2010 Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. American journal of hematology 35 20941788
1986 Parvovirus infection associated with aplastic crisis in a patient with HEMPAS. Journal of clinical pathology 34 3020093
2013 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. Blood cells, molecules & diseases 32 23453696
1999 HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test. Biochimica et biophysica acta 27 10571015
2000 Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). The Journal of pediatrics 24 10753261
1975 The abnormal surface characteristics of the red blood cell membrane in congenital dyserythropoietic anaemia type II (HEMPAS). British journal of haematology 24 1201221
2020 Hepatitis B subviral envelope particles use the COPII machinery for intracellular transport via selective exploitation of Sec24A and Sec23B. Cellular microbiology 23 32017353
2017 SEC23B is required for pancreatic acinar cell function in adult mice. Molecular biology of the cell 22 28539403
2010 CDAII presenting as hydrops foetalis: molecular characterization of two cases. Blood cells, molecules & diseases 22 20381388
2016 Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice. Scientific reports 21 27297878
2016 Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations. British journal of haematology 21 27471141
2011 Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population. American journal of hematology 21 21850656
2007 Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS). Glycoconjugate journal 19 18166993
1994 Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). Blood 19 7506081
1987 Congenital dyserythropoietic anaemia type II (HEMPAS): characterization of aberrant intracellular organelles by immunogold electron microscopy. British journal of haematology 19 3663523
1975 Abnormal lipid composition of the red cell membrane in congenital dyserythropoietic anemia type II (HEMPAS). The Journal of laboratory and clinical medicine 19 1141728
2011 Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. Orphanet journal of rare diseases 18 22208203
1982 Erythrocyte membrane proteins in an unusual case of congenital dyserythropoietic anaemia type II (CDA II). British journal of haematology 18 7055536
2008 Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? Biochimica et biophysica acta 17 19150496
1987 Glycolipids and glycopeptides of red cell membranes in congenital dyserythropoietic anaemia type II (CDA II). British journal of haematology 17 3620357
2021 SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II. Science advances 15 34818036
2011 E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. Acta haematologica 15 21252497
2005 Inhibitory effect of CDA-II, a urinary preparation, on aflatoxin B(1)-induced oxidative stress and DNA damage in primary cultured rat hepatocytes. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 15 16229933
2000 Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? Haematologica 15 10800161
2001 Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. Clinical and laboratory haematology 12 11422224
1998 Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins. Biochemistry and cell biology = Biochimie et biologie cellulaire 12 10353717
2017 Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. Gene 11 29031773
2022 SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells. International journal of molecular sciences 10 35163229
2020 Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis. Cell death & disease 10 32123160
2012 DNA methyltransferase inhibitor CDA-II inhibits myogenic differentiation. Biochemical and biophysical research communications 10 22627135
2002 Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers. Haematologica 9 11836161
2018 Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. Journal of pediatric hematology/oncology 8 29846281
2008 CDA-II, a urinary preparation, induces growth arrest and apoptosis of human leukemia cells through inactivation of nuclear factor-kappaB in a caspase-dependent manner. Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 8 18761050
2023 New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II. International journal of molecular sciences 7 37373084
2018 Non-canonical role of cancer-associated mutant SEC23B in the ribosome biogenesis pathway. Human molecular genetics 7 29893852
2003 Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases. European journal of gastroenterology & hepatology 7 14501626
2021 Non-canonical role of wild-type SEC23B in the cellular stress response pathway. Cell death & disease 6 33753724
2008 Comparative proteomics and molecular mechanical analysis in CDA-II induced therapy of LCI-D20 hepatocellular carcinoma model. Journal of cancer research and clinical oncology 6 18853186
2003 Effect of CDA-II on cell viability, lipid peroxidation, glutathione concentration and its related enzyme activities in primary rat hepatocytes. The American journal of Chinese medicine 6 12943172
1982 Congenital dyserythropoietic anaemia type II (CDA-II): chromosomal banding studies and adherent cell effects on erythroid colony (CFU-E) and burst (BFU-E) formation. British journal of haematology 6 7066202
2014 Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. Hematology (Amsterdam, Netherlands) 5 24801240
1999 Suppression of CDA II expression in a homozygote. British journal of haematology 5 10519996
1994 Polylactosamines are not obligate receptors for invasion of Plasmodium falciparum malaria as shown in HEMPAS variant II-gal- erythrocytes. Glycobiology 5 7734852
2021 A common human missense mutation of vesicle coat protein SEC23B leads to growth restriction and chronic pancreatitis in mice. The Journal of biological chemistry 4 34954140
2002 Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS). American journal of hematology 4 11891809
1994 Hairy cell leukemia associated with congenital dyserythropoietic anemia type II (HEMPAS). Haematologia 4 7959373
1980 Congenital dyserythropoietic anaemia type II (HEMPAS): a family study. Journal of clinical pathology 4 7451666
1976 [Polyagglutinability due to Hempas antigen]. Revue francaise de transfusion et immuno-hematologie 4 788106
2017 [Analysis of genotype and phenotype of SEC23B gene in a family affected with congenital dyserythropoietic anemia type II]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 3 29188620
2004 Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II). Pediatrics international : official journal of the Japan Pediatric Society 3 15151542
1980 Congenital dyserytropoietic anaemia, type II (HEMPAS) in three siblings. Folia haematologica (Leipzig, Germany : 1928) 3 6162730
2023 Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature. International journal of hematology 2 38127226
2013 [Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2 23978024
2004 [Abnormalities of the erythrocyte membrane ultrastructure and the membrane proteins in a patient with HEMPAS, alpha thalassemia and complicated diabetes]. Zhonghua nei ke za zhi 2 15312436
1999 Reduced deformability of erythrocytes as feature of congenital dyserythropoietic anaemia type II (HEMPAS). Clinical hemorheology and microcirculation 2 10711781
2023 Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population. Italian journal of pediatrics 1 37455305
2022 SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia. BMJ case reports 1 35820731
2019 [New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 1 31104444
2026 Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias. HemaSphere 0 41657939
2026 Salmonella Effector SpvC Targets SEC23B of Intestinal Epithelial Cells to Resist Gasdermin D-Mediated Protection Against Systemic Infection. Microorganisms 0 42197534
2024 Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome. Hematology (Amsterdam, Netherlands) 0 38655690
2021 Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II. International journal of hematology 0 33914262
2021 [Variant analysis of SEC23B gene in 4 families with congenital dyserythropoietic anemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 34365611
2008 [In vitro study of the effects of CDA-II combined with cAMP on apoptosis induction in retinoic acid resistant acute promyelocytic leukemia cells]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 0 19175987
2007 [In vitro study about the inhibitory effect of CDAII in combination with sodium butyrate on breast cancer cells]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 0 17940563
2004 [Congenital dyserythropoietic anemia--type II (CDA-II) in 3 siblings with long-term follow up and iron overload]. Acta medica (Hradec Kralove). Supplementum 0 15745056

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