Affinage

EGFLAM

Pikachurin · UniProt Q63HQ2

Length
1017 aa
Mass
111.3 kDa
Annotated
2026-06-09
100 papers in source corpus 1 papers cited in narrative 1 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 2/2 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

EGFLAM encodes a protein localized to the outer plexiform layer of the retina that is required for ON-bipolar cell signaling (PMID:41343198). Biallelic loss-of-function variants (frameshift and nonsense) cause complete congenital stationary night blindness (cCSNB), with affected patients showing an electronegative Schubert-Bornschein full-field electroretinogram pattern indicative of ON-bipolar cell dysfunction (PMID:41343198). Beyond this genetic and localization evidence, no further molecular mechanism, binding partners, or biochemical activity for EGFLAM has been characterized in the available corpus.

Mechanistic history

Synthesis pass · year-by-year structured walk · 1 step
  1. 2026 Medium

    Establishing the genetic and physiological role of EGFLAM in vision, this work showed that biallelic loss of EGFLAM disrupts the retinal ON-pathway and causes a defined inherited disorder.

    Evidence Exome/genome/Sanger sequencing with cosegregation in two unrelated families and ffERG functional readout in human patients, plus retinal localization to the outer plexiform layer

    PMID:41343198

    Open questions at the time
    • No in vitro reconstitution or model-organism validation in this study
    • Molecular partners and biochemical activity of EGFLAM at the photoreceptor-to-bipolar synapse are undefined
    • Mechanism by which EGFLAM supports ON-bipolar signal transmission is unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • How EGFLAM functions at the outer plexiform layer synapse — its direct binding partners, biochemical activity, and the molecular step it contributes to ON-bipolar signaling — remains unresolved.
  • No direct physical partners identified
  • No biochemical or structural characterization
  • No animal model phenotype reported in the corpus

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
No controlled-vocabulary terms were assigned to this entry.

Evidence

Reading pass · 1 per-paper finding extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2026 Homozygous loss-of-function variants in EGFLAM (frameshift c.1563_1566del and nonsense c.1795C>T) cause complete congenital stationary night blindness (cCSNB) with ON-bipolar cell dysfunction, as demonstrated by electronegative Schubert-Bornschein ffERG pattern in affected patients; the EGFLAM protein localizes to the outer plexiform layer of the retina and is required for ON-bipolar cell signaling. Exome sequencing, genome sequencing, Sanger sequencing, cosegregation analysis, full-field electroretinography (ffERG) in human patients JAMA ophthalmology Medium 41343198

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 Diet Diversity Is Associated with Beta but not Alpha Diversity of Pika Gut Microbiota. Frontiers in microbiology 143 27512391
2005 Echinococcus shiquicus n. sp., a taeniid cestode from Tibetan fox and plateau pika in China. International journal for parasitology 132 15862582
2009 When cold is better: climate-driven elevation shifts yield complex patterns of diversification and demography in an alpine specialist (American pika, Ochotona princeps). Evolution; international journal of organic evolution 121 19663994
1998 Regional and temporal specialization in the nucleus: a transcriptionally-active nuclear domain rich in PTF, Oct1 and PIKA antigens associates with specific chromosomes early in the cell cycle. The EMBO journal 114 9501098
2016 Pika Population Density Is Associated with the Composition and Diversity of Gut Microbiota. Frontiers in microbiology 77 27242770
2002 Pika and vole mitochondrial genomes increase support for both rodent monophyly and glires. Gene 62 12234673
2016 Pika Gut May Select for Rare but Diverse Environmental Bacteria. Frontiers in microbiology 61 27582734
1998 Blunted hypoxic pulmonary vasoconstrictive response in the rodent Ochotona curzoniae (pika) at high altitude. The American journal of physiology 61 9612392
2014 Landscape effects on gene flow for a climate-sensitive montane species, the American pika. Molecular ecology 58 24383818
1997 The effect of habitat fragmentation on dispersal patterns, mating behavior, and genetic variation in a pika (Ochotona princeps) metapopulation. Oecologia 47 28307630
2013 Genetic characterization of Toxoplasma gondii from Qinghai vole, Plateau pika and Tibetan ground-tit on the Qinghai-Tibet Plateau, China. Parasites & vectors 34 24192458
2020 Gut microbiome adaptation to extreme cold winter in wild plateau pika (Ochotona curzoniae) on the Qinghai-Tibet Plateau. FEMS microbiology letters 30 32840567
2016 A novel rabies vaccine based-on toll-like receptor 3 (TLR3) agonist PIKA adjuvant exhibiting excellent safety and efficacy in animal studies. Virology 29 26765968
2018 The first report of Cryptosporidium spp. in Microtus fuscus (Qinghai vole) and Ochotona curzoniae (wild plateau pika) in the Qinghai-Tibetan Plateau area, China. Parasitology research 27 29532219
2015 Intermittent cold exposure results in visceral adipose tissue "browning" in the plateau pika (Ochotona curzoniae). Comparative biochemistry and physiology. Part A, Molecular & integrative physiology 27 25662677
2017 An accelerated rabies vaccine schedule based on toll-like receptor 3 (TLR3) agonist PIKA adjuvant augments rabies virus specific antibody and T cell response in healthy adult volunteers. Vaccine 25 28118938
2004 Cloning of hypoxia-inducible factor 1alpha cDNA from a high hypoxia tolerant mammal-plateau pika (Ochotona curzoniae). Biochemical and biophysical research communications 25 15020255
2022 A highland-adaptation mutation of the Epas1 protein increases its stability and disrupts the circadian clock in the plateau pika. Cell reports 24 35584682
2009 The protein level of hypoxia-inducible factor-1alpha is increased in the plateau pika (Ochotona curzoniae) inhabiting high altitudes. Journal of experimental zoology. Part A, Ecological genetics and physiology 24 19048601
2013 Cardiac adaptation to high altitude in the plateau pika (Ochotona curzoniae). Physiological reports 23 24303117
2012 Genetic evidence for restricted dispersal along continuous altitudinal gradients in a climate change-sensitive mammal: the American Pika. PloS one 22 22720034
2016 Shiga Toxin-Producing Escherichia coli in Plateau Pika (Ochotona curzoniae) on the Qinghai-Tibetan Plateau, China. Frontiers in microbiology 20 27047483
2018 Testosterone-retinoic acid signaling directs spermatogonial differentiation and seasonal spermatogenesis in the Plateau pika (Ochotona curzoniae). Theriogenology 18 30296653
2018 Genetic Diversity in Echinococcus multilocularis From the Plateau Vole and Plateau Pika in Jiuzhi County, Qinghai Province, China. Frontiers in microbiology 18 30455674
2013 Novel genomic resources for a climate change sensitive mammal: characterization of the American pika transcriptome. BMC genomics 18 23663654
2017 Actinomyces gaoshouyii sp. nov., isolated from plateau pika (Ochotona curzoniae). International journal of systematic and evolutionary microbiology 17 28857023
2018 Chronic cold exposure results in subcutaneous adipose tissue browning and altered global metabolism in Qinghai-Tibetan plateau pika (Ochotona curzoniae). Biochemical and biophysical research communications 16 29626477
2013 VEGF189 expression is highly related to adaptation of the plateau pika (Ochotona curzoniae) inhabiting high altitudes. High altitude medicine & biology 16 24377347
2022 Differential Expression of Metabolism-Related Genes in Plateau Pika (Ochotona curzoniae) at Different Altitudes on the Qinghai-Tibet Plateau. Frontiers in genetics 15 35126457
2021 Chromosome-Level Reference Genome Assembly for the American Pika (Ochotona princeps). The Journal of heredity 15 34036348
2021 Discovery and Evolution of a Divergent Coronavirus in the Plateau Pika From China That Extends the Host Range of Alphacoronaviruses. Frontiers in microbiology 15 34691006
2017 Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies. International journal of molecular medicine 15 28339009
1996 Effects of Acomastylis rossii tannins on a mammalian herbivore, the North American pika, Ochotona princeps. Oecologia 15 28307602
2023 Livestock grazing is associated with the gut microbiota and antibiotic resistance genes in sympatric plateau pika (Ochotona curzoniae). Integrative zoology 13 37828802
2016 Effect of Hypoxia on Ldh-c Expression in Somatic Cells of Plateau Pika. International journal of environmental research and public health 12 27490559
2020 Luteimonas chenhongjianii, a novel species isolated from rectal contents of Tibetan Plateau pika (Ochotona curzoniae). International journal of systematic and evolutionary microbiology 11 32310741
2019 Neisseria chenwenguii sp. nov. isolated from the rectal contents of a plateau pika (Ochotona curzoniae). Antonie van Leeuwenhoek 11 30798492
2016 Genetic diversity in Echinococcus shiquicus from the plateau pika (Ochotona curzoniae) in Darlag County, Qinghai, China. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 11 27282470
2021 Fast and long-lasting immune response to S-trimer COVID-19 vaccine adjuvanted by PIKA. Molecular biomedicine 10 34766005
2015 Distribution of sialic acid receptors and experimental infections with different subtypes of influenza A viruses in Qinghai-Tibet plateau wild pika. Virology journal 10 25880060
2009 [Difference in oxygen uptake in skeletal muscles between plateau zokor (Myospalax rufescens baileyi) and plateau pika (Ochotona curzoniac)]. Sheng li xue bao : [Acta physiologica Sinica] 10 19701590
2022 A homotetrameric hemoglobin expressed in alveolar epithelial cells increases blood oxygenation in high-altitude plateau pika (Ochotona curzoniae). Cell reports 9 36198267
2021 Microbacterium caowuchunii sp. nov. and Microbacterium lushaniae sp. nov., isolated from plateau pika (Ochotona curzoniae) on the Qinghai-Tibet Plateau of PR China. International journal of systematic and evolutionary microbiology 9 33502309
2021 Genomic variation in the American pika: signatures of geographic isolation and implications for conservation. BMC ecology and evolution 9 33514306
2016 Enzymatic Kinetic Properties of the Lactate Dehydrogenase Isoenzyme C₄ of the Plateau Pika (Ochotona curzoniae). International journal of molecular sciences 9 26751442
1979 The natural tolerance of the afghan pika (Ochotona rufescens) to morphine. European journal of pharmacology 9 217697
2019 Neisseria weixii sp. nov., isolated from rectal contents of Tibetan Plateau pika (Ochotona curzoniae). International journal of systematic and evolutionary microbiology 8 31162020
2013 Stress hormone concentration in Rocky Mountain populations of the American pika (Ochotona princeps). Conservation physiology 8 27293611
2021 Potent Neutralization Antibodies Induced by a Recombinant Trimeric Spike Protein Vaccine Candidate Containing PIKA Adjuvant for COVID-19. Vaccines 7 33810026
2021 Lung transcriptome analysis for the identification of genes involved in the hypoxic adaptation of plateau pika (Ochotona curzoniae). Comparative biochemistry and physiology. Part D, Genomics & proteomics 7 34861554
2015 Pseudogenization of CCL14 in the Ochotonidae (pika) family. Innate immunity 7 25817712
2013 Differences of glycolysis in skeletal muscle and lactate metabolism in liver between plateau zokor (Myospalax baileyi) and plateau pika (Ochotona curzoniae). Sheng li xue bao : [Acta physiologica Sinica] 7 23788184
2012 Adjuvant PIKA protects hepatoma cells from dengue virus infection by promoting a TBK-1-dependent innate immune response. Archives of virology 7 23224759
2024 Phylogenomics of American pika (Ochotona princeps) lineage diversification. Molecular phylogenetics and evolution 6 38341008
2022 Comparative genomics reveals putative evidence for high-elevation adaptation in the American pika (Ochotona princeps). G3 (Bethesda, Md.) 6 36087005
2015 Role of glutamate and serotonin on the hypoxic ventilatory response in high-altitude-adapted plateau Pika. Respiratory physiology & neurobiology 6 25890014
2014 Inhibition of inducible nitric oxide synthase expression and nitric oxide production in plateau pika (Ochotona curzoniae) at high altitude on Qinghai-Tibet Plateau. Nitric oxide : biology and chemistry 6 24632467
2020 Mumia zhuanghuii sp. nov., isolated from the intestinal contents of plateau pika (Ochotona curzoniae) on the Qinghai-Tibet Plateau. International journal of systematic and evolutionary microbiology 5 32100695
2020 Aeromicrobium chenweiae sp. nov. and Aeromicrobium yanjiei sp. nov., isolated from Tibetan antelope (Pantholops hodgsonii) and plateau pika (Ochotona curzoniae), respectively. International journal of systematic and evolutionary microbiology 5 32692642
2010 Genome-wide comparative chromosome map between human and the Forrest's pika (Ochotona forresti) established by cross-species chromosome painting: further support for the Glires hypothesis. Cytogenetic and genome research 5 20664243
1988 Opioid receptor types in the brain of the Afghan pika (Ochotona rufescens), a species which is naturally tolerant to morphine. Life sciences 5 2842564
2020 Georgenia wutianyii sp. nov. and Georgenia yuyongxinii sp. nov. isolated from plateau pika (Ochotona curzoniae) on the Qinghai-Tibet plateau of China. International journal of systematic and evolutionary microbiology 4 32195648
2018 Identification of a contact zone and hybridization for two subspecies of the American pika (Ochotona princeps) within a single protected area. PloS one 4 29995897
2018 Noninvasive sampling reveals population genetic structure in the Royle's pika, Ochotona roylei, in the western Himalaya. Ecology and evolution 4 30680105
2017 The expression of Ldh-c in the skeletal muscle of plateau pika (Ochotona curzoniae) enhances adaptation to a hypoxic environment. Biology open 4 28916706
2015 Comparative ventilatory strategies of acclimated rats and burrowing plateau pika (Ochotona curzoniae) in response to hypoxic-hypercapnia. Comparative biochemistry and physiology. Part A, Molecular & integrative physiology 4 25988712
2024 The first complete mitochondrial genome data of the Afghan pika Ochotona rufescens (Lagomorpha, Ochotonidae), near the type locality. Data in brief 3 38533117
2024 A nature-inspired HIF stabilizer derived from a highland-adaptation insertion of plateau pika Epas1 protein. Cell reports 3 39269902
2024 Plateau Pika Disturbance Changes Soil Bacterial Functions and Exoenzyme Abundance to Modulate the C Cycle Pathway in Alpine Grasslands. International journal of molecular sciences 3 39684491
2023 Disrupted circadian rhythms in the plateau pika. Trends in neurosciences 3 37802756
2023 Potential option for rabies post-exposure prophylaxis: New vaccine with PIKA adjuvant against diverse Chinese rabies strains. Vaccine 3 37821317
2023 The genomic characteristics and pathogenicity of a mammalian orthoreovirus within a new lineage from wild pika in plateau. Virologica Sinica 3 37931840
2022 Vitamin D3 Metabolic Enzymes in Plateau Zokor (Myospalax baileyi) and Plateau Pika (Ochotona curzoniae): Expression and Response to Hypoxia. Animals : an open access journal from MDPI 3 36139230
2020 Agromyces badenianii sp. nov., isolated from plateau pika (Ochotona curzoniae). International journal of systematic and evolutionary microbiology 3 32100704
2020 Vector-Borne Pathogens in Ectoparasites Collected from High-Elevation Pika Populations. EcoHealth 3 33200238
2017 Variation in subsurface thermal characteristics of microrefuges used by range core and peripheral populations of the American pika (Ochotona princeps). Ecology and evolution 3 28261461
2010 A modified enrichment method to construct microsatellite library from plateau pika genome (Ochotona curzoniae). Genomics, proteomics & bioinformatics 3 20451163
2025 Evolutionary divergence on the Qinghai-Xizang Plateau: How life-history traits shape the diversity of plateau zokor and pika populations. Journal of genetics and genomics = Yi chuan xue bao 2 40334979
2024 Dysbiosis of Gut Microbiome Aggravated Male Infertility in Captivity of Plateau Pika. Biomolecules 2 38672421
2024 Evidence of Intraspecific Adaptive Variation in the American Pika (Ochotona princeps) on a Continental Scale Using a Target Enrichment and Mitochondrial Genome Skimming Approach. Molecular ecology 2 39425616
2023 A Comparative Study on the Distribution Pattern of Endocrine Cells in the Gastrointestinal Tract of Two Small Alpine Mammals, Plateau Zokor (Eospalax baileyi) and Plateau Pika (Ochotona curzoniae). Animals : an open access journal from MDPI 2 36830427
2023 IgG1-Dominant Antibody Response Induced by Recombinant Trimeric SARS-CoV-2 Spike Protein with PIKA Adjuvant. Vaccines 2 37112739
2023 Ancient DNA re-opens the question of the phylogenetic position of the Sardinian pika Prolagus sardus (Wagner, 1829), an extinct lagomorph. Scientific reports 2 37604894
2018 The complete mitochondrial DNA sequence of the Chinese red pika (Ochotona erythrotis). Mitochondrial DNA. Part B, Resources 2 33474343
2015 [The expression of the sperm-specific lactate dehydrogenase gene Ldh-c in plateau pika (Ochotona curzoniae) cardiac muscle and its effect on the anaerobic glycolysis]. Sheng li xue bao : [Acta physiologica Sinica] 2 26109304
2013 An intriguing shift occurs in the novel protein phosphatase 1 binding partner, TCTEX1D4: evidence of positive selection in a pika model. PloS one 2 24130861
2026 EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness. JAMA ophthalmology 1 41343198
2024 Adlercreutzia wanghongyangiae sp. nov., and Adlercreutzia shanghongiae sp. nov., two new members of the genus Adlercreutzia isolated from plateau pika (Ochotona curzoniae). International journal of systematic and evolutionary microbiology 1 39361517
2024 Safety, tolerability, and immunogenicity of PIKA-adjuvanted recombinant SARS-CoV-2 spike protein subunit vaccine in healthy adults: an open-label randomized phase I clinical trial. Clinical and experimental vaccine research 1 39525677
2024 Complete mitochondrial genome of Scathophaga stercoraria (Diptera: Scathophagidae) in wild plateau pika: genome descriptions and phylogenetic evolution. Parasitology 1 39563190
2022 Transcriptome analysis of pika heart tissue reveals mechanisms underlying the adaptation of a keystone species on the roof of the world. Frontiers in genetics 1 36506315
2014 [Cloning and characterization of lactate dehydrogenase C4 from pika ochotona curzoniae]. Molekuliarnaia biologiia 1 25842833
2007 Molecular cloning and tissue distribution of uncoupling protein 1 (UCP1) in plateau pika (Ochotona dauurica). The Journal of veterinary medical science 1 17984595
2001 [The changes of function and morphology of pulmonary arterial vessels in the pika at high altitude]. Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology 1 21171414
2026 Genome assembly of Helan Shan pika (Ochotona argentata): a key resource for endangered species conservation. BMC genomics 0 41545957
2026 Genetic recovery in an alpine climate-sensitive pika species during upward treeline shift. BMC genomics 0 41845197
2025 Long-term effects of grazing exclosure and plateau pika disturbance on soil biochemistry in alpine meadows. Environmental monitoring and assessment 0 40216611
2025 Ecological restoration in plateau pika-disturbed alpine meadows: Soil-microbe-enzyme stoichiometry and microbial adaptations during vegetation recovery of bare patches. Journal of environmental management 0 41004966
2025 Deoxycholic acid derived from the gut microbiota involved in the regulation of adaptive thermogenesis in response to dietary protein restriction in plateau pika. Microbiome 0 41387927
2024 Safety and immunogenicity of PIKA-adjuvanted recombinant SARS-CoV-2 spike protein subunit vaccine as a booster against SARS-CoV-2: a phase II, open-label, randomized, double-blinded study. Clinical and experimental vaccine research 0 39525672

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