Affinage

SEC23B

Protein transport protein Sec23B · UniProt Q15437

Length
767 aa
Mass
86.5 kDa
Annotated
2026-04-28
82 papers in source corpus 17 papers cited in narrative 17 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SEC23B is a core component of the COPII vesicle coat that mediates ER-to-Golgi transport of secretory cargo, and its tissue-specific requirement is determined by the relative expression of its functionally interchangeable paralog SEC23A rather than by intrinsic biochemical differences between the two proteins (PMID:30065114, PMID:34818036). Loss-of-function mutations in SEC23B cause congenital dyserythropoietic anemia type II (CDAII) in humans through impaired glycosylation of erythroid membrane proteins (PMID:19561605, PMID:19621418), whereas in mice SEC23B deficiency primarily disrupts professional secretory tissues—pancreatic acinar cells and salivary glands—triggering ER distension, unfolded protein response activation, and apoptosis (PMID:22745161, PMID:28539403). Beyond canonical COPII trafficking, SEC23B is stabilized during starvation by ULK1-mediated phosphorylation at Ser186, which prevents FBXW5-directed proteasomal degradation and enables a SEC23B–SEC24A/B complex at the ERGIC to promote autophagosome biogenesis (PMID:30596474); SEC23B also localizes to the nucleus and nucleolus, where it interacts with UBF at rDNA promoters and with EIF2-signaling and ubiquitination pathway components, indicating COPII-independent roles in ribosome biogenesis and ER stress responses (PMID:29893852, PMID:33753724).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2009 High

    Identification of SEC23B as the CDAII gene established that a specific COPII coat paralog is selectively required for normal erythropoiesis and proper glycosylation of red blood cell membrane proteins, answering which trafficking machinery component underlies this congenital anemia.

    Evidence Patient sequencing identifying SEC23B mutations, shRNA knockdown recapitulating cytokinesis defects, and zebrafish morpholino knockdown causing aberrant erythrocyte development

    PMID:19561605 PMID:19621418

    Open questions at the time
    • Mechanism by which SEC23B loss specifically impairs erythroid glycosylation was not resolved
    • Whether SEC23A could compensate for SEC23B loss in erythroid cells was untested
    • Cargo selectivity of SEC23B versus SEC23A was unknown
  2. 2012 High

    The generation of SEC23B knockout mice revealed that SEC23B is essential for ER export in professional secretory tissues (pancreas, salivary gland) but not liver or erythroid cells in this species, establishing that tissue-specific secretory load determines dependence on SEC23B.

    Evidence Germline SEC23B knockout mouse with electron microscopy showing ER distension and UPR/apoptosis pathway activation in pancreatic acinar cells

    PMID:22745161

    Open questions at the time
    • Why murine erythropoiesis was spared, unlike human CDAII, was unexplained
    • Whether the lethality mapped specifically to pancreatic loss of SEC23B was untested
    • The relative contributions of SEC23A expression levels versus intrinsic protein differences remained ambiguous
  3. 2014 High

    Hematopoietic-specific conditional knockout showed that murine blood formation does not require SEC23B, raising the hypothesis that species-specific paralog expression rather than unique protein functions explains the human-mouse phenotypic discrepancy.

    Evidence Conditional hematopoietic-specific SEC23B knockout mice with bone marrow transplantation and competitive repopulation assays

    PMID:25071156

    Open questions at the time
    • Direct measurement of SEC23A versus SEC23B expression in murine versus human erythroid progenitors was not provided
    • Whether forced reduction of SEC23A in murine erythroid cells would recapitulate CDAII was untested
  4. 2016 High

    Tissue-specific knockouts demonstrated that pancreatic SEC23B deficiency alone accounts for perinatal lethality, while SEC23A loss in pancreas does not, pinpointing the organ and paralog responsible for the mouse lethal phenotype.

    Evidence Pancreas-specific conditional SEC23B and SEC23A knockout mice with BAC transgene rescue

    PMID:27297878

    Open questions at the time
    • Whether the pancreatic phenotype reflects a unique cargo requirement or simply expression dominance of SEC23B was unresolved
    • Adult pancreatic consequences of SEC23B loss had not yet been examined
  5. 2017 High

    Inducible acinar-specific SEC23B deletion in adult mice confirmed that SEC23B is continuously required for zymogen granule biogenesis and ER homeostasis in the mature pancreas, not only during development.

    Evidence Tamoxifen-inducible acinar cell-specific Sec23b deletion in adult mice with electron microscopy and ER stress/apoptosis markers

    PMID:28539403

    Open questions at the time
    • Identity of the specific cargo proteins whose trafficking depends on SEC23B in acinar cells was not determined
    • Whether SEC23A upregulation could partially compensate over longer time frames was unknown
  6. 2018 High

    Comprehensive interactome and genetic rescue experiments proved that SEC23A and SEC23B are biochemically interchangeable—SEC23A expressed from the SEC23B locus fully rescues the knockout—definitively attributing tissue-specific phenotypes to transcriptional regulation rather than unique protein activities.

    Evidence Mass spectrometry interactome comparison; yeast complementation; zebrafish transgenic rescue; mouse knockin of Sec23a coding sequence into Sec23b locus

    PMID:30065114

    Open questions at the time
    • Cis-regulatory elements governing tissue-specific SEC23B transcription were not mapped
    • Whether subtle kinetic or affinity differences exist under specific stress conditions was not excluded
  7. 2018 High

    Discovery that ULK1 phosphorylates SEC23B at Ser186 to prevent FBXW5-mediated degradation established a non-canonical role for SEC23B in autophagosome biogenesis at the ERGIC, linking COPII coat components to the autophagy machinery.

    Evidence In vitro kinase assay, site-directed mutagenesis of S186, co-immunoprecipitation, subcellular fractionation, and autophagy flux assays

    PMID:30596474

    Open questions at the time
    • How the phosphorylated SEC23B–SEC24A/B complex mechanistically promotes autophagosome membrane formation was not determined
    • Physiological significance of this pathway in vivo (animal models) was not tested
    • Whether SEC23A is similarly regulated by ULK1/FBXW5 was not addressed
  8. 2018 Medium

    The finding that cancer-associated mutant SEC23B localizes to nucleoli, binds UBF at rDNA promoters, and enhances translational capacity revealed a COPII-independent function in ribosome biogenesis.

    Evidence Confocal microscopy for nucleolar localization; co-immunoprecipitation for SEC23B–UBF interaction; ChIP at rDNA promoter; gene expression microarray and translation assays

    PMID:29893852

    Open questions at the time
    • Whether wild-type SEC23B has the same nucleolar function or this is neomorphic was unclear
    • Not independently replicated at time of publication
    • Structural basis for SEC23B–UBF interaction was not determined
  9. 2021 Medium

    Demonstration that wild-type SEC23B also localizes to the nucleus and interacts with ER stress/EIF2 signaling and ubiquitination pathway proteins extended the non-canonical nuclear role beyond cancer mutants, establishing that nuclear SEC23B function is a normal feature of the protein.

    Evidence Subcellular fractionation, confocal microscopy, mass spectrometry proteomics, and co-immunoprecipitation in patient-derived lymphoblastoid cell lines

    PMID:33753724

    Open questions at the time
    • Functional consequences of nuclear SEC23B interactions on ER stress signaling were not causally tested
    • Single-lab study awaiting independent confirmation
    • How SEC23B translocates to the nucleus (NLS, chaperone-mediated) is unknown
  10. 2021 High

    Genetic proof that SEC23A expressed from the SEC23B locus fully rescues all SEC23B-deficient phenotypes in mice, and that combined erythroid deletion of all four Sec23 alleles produces CDAII-like features, conclusively resolved the paralog redundancy question and demonstrated that total SEC23 dosage determines erythroid phenotype.

    Evidence Knockin mouse expressing SEC23A from Sec23b regulatory elements; erythroid-specific double conditional KO; SEC23A overexpression rescue in human HUDEP-2 cells

    PMID:34818036

    Open questions at the time
    • Threshold of total SEC23 protein needed for normal erythropoiesis was not quantified
    • Whether gene therapy increasing SEC23A could treat CDAII patients was not tested
  11. 2021 High

    Modeling the common CDAII E109K mutation in mice revealed that reduced SEC23B protein levels and mislocalization cause exocrine pancreatic insufficiency with chronic pancreatitis and growth hormone insensitivity, connecting SEC23B hypomorphism to systemic endocrine consequences.

    Evidence E109K knockin mouse; hepatocyte-specific conditional Sec23b KO; protein localization, ER stress markers, and growth hormone axis measurements

    PMID:34954140

    Open questions at the time
    • Mechanism of growth hormone insensitivity (pancreatic inflammation versus direct SEC23B effect) was not fully dissected
    • Whether these pancreatic/endocrine features occur in human CDAII patients is unknown
  12. 2022 Medium

    SEC23B loss in hepatic cells impairs glycosylation of BMP/SMAD pathway receptors and suppresses hepcidin expression, providing a molecular explanation for iron overload in CDAII beyond erythroid defects.

    Evidence Stable SEC23B shRNA silencing in HuH7 and HepG2 hepatic cell lines with BMP/SMAD pathway and hepcidin assays; SEC23A overexpression rescue

    PMID:35163229

    Open questions at the time
    • In vivo validation of hepatic hepcidin suppression in SEC23B-deficient models was not performed
    • Contribution of hepatic versus erythroid dysfunction to CDAII iron overload was not quantified

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis for SEC23B's nuclear import and nucleolar functions, the specific cargo repertoire that depends on SEC23B versus SEC23A in different tissues, the in vivo significance of the ULK1–SEC23B autophagy axis, and whether therapeutic SEC23A upregulation can rescue CDAII in patients.
  • No nuclear localization signal or import mechanism identified for SEC23B
  • No systematic cargo profiling comparing SEC23B-dependent versus SEC23A-dependent clients
  • In vivo validation of the ULK1–FBXW5–SEC23B autophagy pathway in animal models is lacking

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 4 GO:0098772 molecular function regulator activity 3
Localization
GO:0005783 endoplasmic reticulum 4 GO:0005794 Golgi apparatus 3 GO:0005634 nucleus 2 GO:0005730 nucleolus 2 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 7 R-HSA-9609507 Protein localization 4 R-HSA-1643685 Disease 3 R-HSA-8953854 Metabolism of RNA 1 R-HSA-9612973 Autophagy 1
Partners
FBXW5SAR1SEC23ASEC24ASEC24BUBA52UBFULK1
Complex memberships
COPII coat complex

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 involved in ER-to-Golgi vesicular transport, and loss-of-function mutations in SEC23B cause congenital dyserythropoietic anemia type II (CDAII). shRNA-mediated suppression of SEC23B expression recapitulates the cytokinesis defect seen in CDAII, and knockdown of zebrafish sec23b leads to aberrant erythrocyte development, demonstrating SEC23B selectivity in erythroid differentiation. shRNA knockdown in human cells, zebrafish sec23b morpholino knockdown, SEC23B gene sequencing in CDAII patients Nature genetics High 19561605 19621418
2009 SEC23B encodes a COPII coat component that functions in ER-to-Golgi trafficking; its loss disturbs endoplasmic reticulum-to-Golgi trafficking, affecting glycosylation pathways and accounting for the hypoglycosylation of red blood cell membrane proteins observed in CDAII. Proteomic-genomic approach matching cytoplasmic proteome of human RBCs with CDAN2 chromosomal locus; SEC23B gene sequencing revealing 12 different mutations Human mutation High 19621418
2012 SEC23B is required for ER exit of highly abundant cargo in professional secretory tissues. SEC23B-deficient mice die perinatally with degeneration of pancreatic acinar cells and salivary glands but not liver; loss of SEC23B causes ER distension, accumulation of proteins in the ER lumen, and activation of the proapoptotic unfolded protein response pathway, demonstrating tissue-specific dependence on SEC23B for ER export. Germline SEC23B knockout mouse; electron microscopy of pancreatic acini; UPR/apoptosis pathway analysis Proceedings of the National Academy of Sciences of the United States of America High 22745161
2014 SEC23B deficiency restricted to the hematopoietic compartment in mice does not produce anemia or other CDAII features, and SEC23B-deficient hematopoietic stem cells show no disadvantage in competitive repopulation assays, indicating that the erythroid-specific requirement for SEC23B in humans is not recapitulated in mice, possibly due to species-specific shifts in SEC23 paralog expression. Conditional hematopoietic-specific SEC23B knockout mice; bone marrow transplantation and competitive repopulation assays Molecular and cellular biology High 25071156
2016 Pancreatic SEC23B deficiency alone is sufficient to explain the perinatal lethality of germline SEC23B-deficient mice, whereas pancreatic SEC23A deficiency does not cause lethality or pancreatic pathology, demonstrating SEC23B-specific (not SEC23A) requirement for murine pancreatic development. Pancreas-specific conditional SEC23B knockout mice; pancreas-specific SEC23A knockout mice; BAC transgene rescue experiments; immunohistochemistry Scientific reports High 27297878
2017 SEC23B is required for normal function of pancreatic acinar cells in adult mice; acinar cell-specific Sec23b deletion results in decreased zymogen granules, ER alterations (vesicular ER to expanded cisternae with intracisternal granules), induction of ER stress, and increased apoptosis leading to pancreatic cell loss. Tamoxifen-inducible, pancreatic acinar cell-specific Sec23b deletion in adult mice; electron microscopy; ER stress and apoptosis markers Molecular biology of the cell High 28539403
2018 SEC23A and SEC23B have indistinguishable intracellular protein interactomes in human cells, both complement yeast Sec23, and a Sec23a coding sequence knocked into the murine Sec23b locus completely rescues the lethal SEC23B-deficient pancreatic phenotype. The distinct phenotypes of SEC23A/B deficiency across and within species are explained by evolutionary shifts in their transcription programs rather than unique protein functions. Mass spectrometry interactome analysis; yeast complementation assay; zebrafish transgenic rescue; mouse knockin (Sec23a coding sequence into 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 interaction and SEC23B degradation. Phosphorylated, stabilized SEC23B associates selectively with SEC24A and SEC24B (not SEC24C/D) and relocalizes to the ER-Golgi intermediate compartment to promote autophagic flux. Co-immunoprecipitation; mass spectrometry; in vitro kinase assay; site-directed mutagenesis (S186); subcellular fractionation and live imaging; proteasome inhibitor experiments; autophagy flux assays eLife High 30596474
2018 Cancer-associated mutant SEC23B localizes to nucleoli independent of other COPII proteins, without compromising secretory function. Mutant SEC23B binds to UBF transcription factor with increased UBF binding at the ribosomal DNA promoter, and mutant cells have increased ribosomal protein and translation-related gene expression and enhanced translational capacity in the presence of ER stress, indicating a non-canonical COPII-independent function in ribosome biogenesis. Immunofluorescence/confocal microscopy (nucleolar localization); co-immunoprecipitation (SEC23B-UBF interaction); ChIP (UBF at rDNA promoter); gene expression microarray; translation assays Human molecular genetics Medium 29893852
2020 SEC23B selectively interacts with SEC24A (not other SEC24 paralogs) to form a COPII complex that the hepatitis B virus envelope exploits for ER export. The interaction involves the N-terminal half of SEC24A and a di-arginine motif of the HBV S domain, and HBV replication upregulates SEC23B and SEC24A transcription. Yeast-based proteomics; siRNA silencing of SEC23 and SEC24 paralogs; co-immunoprecipitation; secretion assays in HBV-expressing liver cells Cellular microbiology Medium 32017353
2020 SEC23B mutations impair membrane localization of adhesion proteins EPCAM and CD9, attenuating cell adhesion and promoting invasiveness of colorectal cancer cells. Specific SEC23B mutations (premature stop C649T, or transport-impairing missense C1467G, T488C+G791A+G2153A) inhibit protein transport activity and reduce membrane EPCAM and CD9 levels. Whole-exome sequencing; SEC23B deletion/mutation cell lines; flow cytometry for membrane proteins; cell adhesion and invasion assays in vitro and in vivo (mouse) Cell death & disease Medium 32123160
2021 Wild-type SEC23B localizes to the nucleus in addition to the ER/Golgi interface, and to nucleoli under proteasome inhibition, independent of COPII. Mass spectrometry revealed that wild-type SEC23B interacts with nuclear proteins and with proteins in the ER stress, protein ubiquitination, and EIF2 signaling pathways. SEC23B-UBA52 (RPL40) interaction is validated in a genotype-specific manner. SEC23B levels increase in response to ER stress. Immunofluorescence/confocal microscopy; subcellular fractionation; mass spectrometry proteomics; co-immunoprecipitation (SEC23B-UBA52); patient-derived lymphoblastoid cell lines; ER stress induction experiments Cell death & disease Medium 33753724
2021 Expression of the full SEC23A protein from endogenous Sec23b regulatory elements completely rescues the SEC23B-deficient mouse phenotype. Erythroid-specific deletion of all four Sec23 alleles (both Sec23a and Sec23b) causes mid-embryonic lethality with CDAII features, and deletion of three alleles produces milder erythroid defects. In human SEC23B-deficient HUDEP-2 cells, CDAII features upon differentiation are rescued by increased SEC23A expression. Knockin mouse (SEC23A from Sec23b locus); erythroid-specific conditional double KO mice; SEC23B-deficient HUDEP-2 human erythroid cell line; SEC23A overexpression rescue Science advances High 34818036
2021 The common human E109K SEC23B mutation leads to decreased SEC23B protein levels and protein mislocalization. In Sec23b hemizygous (Sec23bki/ko) mice, this results in exocrine pancreatic insufficiency with ER stress and apoptosis, chronic pancreatitis, mild anemia, and severe growth restriction with growth hormone insensitivity. Growth restriction is not associated with hepatocyte-specific Sec23b deletion, implicating a non-liver origin (pancreatic inflammation). Knockin mouse (E109K); conditional hepatocyte-specific Sec23b KO; protein localization studies; ER stress and apoptosis markers; GH axis measurements The Journal of biological chemistry High 34954140
2022 SEC23B loss-of-function in human hepatic cells (HuH7 and HepG2) impairs glycosylation of membrane proteins involved in the BMP/SMAD pathway, reduces BMP6 sensing, and suppresses hepcidin expression, contributing to iron overload in CDAII. SEC23A overexpression rescues hepcidin suppression, demonstrating functional overlap between SEC23 paralogs in human hepatic cells. Stable SEC23B shRNA silencing in HuH7 and HepG2 cell lines; BMP/SMAD pathway analysis; hepcidin assay; glycosylation studies; SEC23A overexpression rescue International journal of molecular sciences Medium 35163229
2015 A germline heterozygous SEC23B variant (p.Val594Gly) results in ER-stress-mediated cell colony formation, survival, growth, and invasion in a normal thyroid cell line, distinct from the recessive loss-of-function mechanism causing CDAII. This indicates SEC23B has a role in ER stress response pathways relevant to cancer predisposition. Functional characterization of p.Val594Gly variant in normal thyroid cell line (colony formation, growth, invasion assays); whole-exome sequencing of Cowden syndrome family American journal of human genetics Medium 26522472
2013 Hypomorphic SEC23B mutations that reduce gene expression are not associated with severe CDAII clinical presentation; a compensation mechanism mediated by SEC23A is proposed to justify less severe phenotypes when SEC23B expression is reduced but not absent. Molecular analysis of five novel mutations; SEC23B mRNA and protein quantification in patient erythroid precursors; SEC23A expression analysis Blood cells, molecules & diseases Low 23453696

Source papers

Stage 0 corpus · 82 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 220 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 63 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 43 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 22 32017353
2017 SEC23B is required for pancreatic acinar cell function in adult mice. Molecular biology of the cell 21 28539403
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
2010 CDAII presenting as hydrops foetalis: molecular characterization of two cases. Blood cells, molecules & diseases 21 20381388
2016 Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice. Scientific reports 20 27297878
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
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
2021 SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II. Science advances 14 34818036
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
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
2022 SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells. International journal of molecular sciences 8 35163229
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
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
2021 Non-canonical role of wild-type SEC23B in the cellular stress response pathway. Cell death & disease 5 33753724
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
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