FCAR

gene
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Also known as CD89FcalphaRIFcalphaR

Summary

FCAR (Fc alpha receptor, HGNC:3608) is a protein-coding gene on chromosome 19q13.42, encoding Immunoglobulin alpha Fc receptor (P24071). Binds to the Fc region of immunoglobulins alpha.

This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Source: NCBI Gene 2204 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 71 total
  • MANE Select transcript: NM_002000

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:3608
Approved symbolFCAR
NameFc alpha receptor
Location19q13.42
Locus typegene with protein product
StatusApproved
AliasesCD89, FcalphaRI, FcalphaR
Ensembl geneENSG00000186431
Ensembl biotypeprotein_coding
OMIM147045
Entrez2204

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000345937, ENST00000353758, ENST00000355524, ENST00000359272, ENST00000391723, ENST00000391724, ENST00000391725, ENST00000391726, ENST00000469767, ENST00000471750, ENST00000472634, ENST00000482092, ENST00000488066

RefSeq mRNA: 8 — MANE Select: NM_002000 NM_002000, NM_133269, NM_133271, NM_133272, NM_133273, NM_133274, NM_133277, NM_133278

CCDS: CCDS12907, CCDS12908, CCDS12909, CCDS12910, CCDS42622, CCDS42623, CCDS42624, CCDS42625

Canonical transcript exons

ENST00000355524 — 5 exons

ExonStartEnd
ENSE000012564005488800754888294
ENSE000019386995488964954891420
ENSE000036179185487533054875365
ENSE000036269025488523554885525
ENSE000038439135487423554874323

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 93.17.

FANTOM5 (CAGE): breadth broad, TPM avg 22.0564 / max 2928.3610, expressed in 321 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
17755719.2334311
1775582.345280
1775560.477995

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
monocyteCL:000057693.17gold quality
mononuclear cellCL:000084292.78gold quality
leukocyteCL:000073892.18gold quality
bone marrowUBERON:000237191.40gold quality
bone marrow cellCL:000209289.67gold quality
bloodUBERON:000017886.17gold quality
right lungUBERON:000216783.34gold quality
granulocyteCL:000009483.08gold quality
spleenUBERON:000210679.51gold quality
vermiform appendixUBERON:000115476.86gold quality
upper lobe of left lungUBERON:000895276.28gold quality
upper lobe of lungUBERON:000894873.61gold quality
endometrium epitheliumUBERON:000481171.34gold quality
caecumUBERON:000115370.88gold quality
buccal mucosa cellCL:000233670.83silver quality
left uterine tubeUBERON:000130368.64gold quality
omental fat padUBERON:001041468.11gold quality
peritoneumUBERON:000235868.04gold quality
gall bladderUBERON:000211066.83gold quality
adipose tissue of abdominal regionUBERON:000780866.65gold quality
smooth muscle tissueUBERON:000113563.61gold quality
lungUBERON:000204862.47gold quality
descending thoracic aortaUBERON:000234561.25gold quality
trabecular bone tissueUBERON:000248360.69silver quality
right lobe of liverUBERON:000111460.17gold quality
mucosa of stomachUBERON:000119959.60gold quality
hindlimb stylopod muscleUBERON:000425259.43gold quality
lower esophagus mucosaUBERON:003583459.21gold quality
subcutaneous adipose tissueUBERON:000219059.18gold quality
right atrium auricular regionUBERON:000663158.99gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-MTAB-9801yes8.61
E-ANND-3no1.37

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA

miRNA regulators (miRDB)

112 targeting FCAR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-3163100.0077.238605
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-450099.9972.722367
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-LET-7F-5P99.9872.561784
HSA-LET-7A-5P99.9872.291790
HSA-LET-7B-5P99.9872.311790
HSA-LET-7C-5P99.9872.291790
HSA-LET-7E-5P99.9872.291790
HSA-LET-7G-5P99.9872.371784
HSA-LET-7I-5P99.9872.371788
HSA-MIR-98-5P99.9872.331787
HSA-MIR-485-3P99.9870.681585
HSA-MIR-539-3P99.9870.741616
HSA-MIR-1213699.9872.815713
HSA-MIR-548N99.9871.944170
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562

Literature-anchored findings (GeneRIF, showing 36)

  • CD89 circulates in a high molecular mass form in complex covalently linked to IgA and contributes to the formation of polymeric serum IgA. (PMID:11801662)
  • study suggests that expression of the FcR splice isoform DeltaEC2 but not Delta66EC2 is differentially regulated in a cell type-specific manner and in response to inflammatory and/or infectious processes (PMID:12560105)
  • The Fc alpha receptor 5’-flanking region from -102 to -64 relative to the ATG translation initiation codon is essential for promoter activity and contains two functional binding motifs for C/EBP and Ets family members at -74 and -92, respectively. (PMID:12594283)
  • there is a bivalent, pH-dependent interaction between FcalphaRI and IgA with important implications for cytokine-dependent phagocytosis of IgA and the FcalphaRI-mediated degradation or recycling of IgA (PMID:12634059)
  • crystal structures of human FcalphaRI alone and in a complex with the Fc region of IgA1 (Fcalpha) (PMID:12768205)
  • Crystal structure of the ectodomain of human FcalphaRI (PMID:12783876)
  • expression pattern of CD89 and its signalling subunit, the FcR gamma chain, on circulating myeloid cells and in various tissues (PMID:12791088)
  • FcalphaRI expressed by interstitial-type dendritic cells could play a critical role to sample IgA-recognized antigens and also during dendritic cell activation. (PMID:15371488)
  • Pathogenic group A and group B streptococci are well known to produce virulence factors that block the binding of IgA to the leukocyte IgA receptor, Fc alphaRI, thereby inhibiting IgA-mediated immunity. (PMID:16293625)
  • Fc receptor gamma RI interacts with the unrelated immunoreceptors FcalphaRI and FcepsilonRI [FCalphaRI, also called CD89] (PMID:16627486)
  • These results indicate that GPVI is unique amongst the receptors of its family as it uses different structural domains to interact with several agonists and provide evidence that different sites on GPVI constitute targets to develop antagonists of GPVI. (PMID:16876821)
  • On monomeric targeting, FcalphaRI functions as an FcRgamma ITAM-dependent apoptotic module that may be fundamental for controlling inflammation and tumor growth. (PMID:16990604)
  • Carriers of 92Asn polymorphism in the myeloid IgA Fc receptor had increased risk of myocardial infarction in CARE and increased odds of coronary heart disease in WOSCOPS study groups. (PMID:17008591)
  • FCAR promoter SNPs may be related to chronic HCV infection and disease progression in Japanese chronic hepatitis C. (PMID:17033823)
  • Fc alpha receptor type I activation mediates glomerulonephritis progression by initiating a cytokine/chemokine cascade that promotes leukocyte recruitment and kidney damage in transgenic mice. (PMID:17393381)
  • Pathogen selection by bacterial decoy proteins drives FcalphaRI and IgA-Fc coevolution. (PMID:17548632)
  • results suggest an endogenous mechanism by which FcalphaR functionality is down-regulated in an ‘allergic environment’ where FcepsilonRI is co-expressed and extensively cross-linked on FcalphaR-expressing effector cells (PMID:18700185)
  • Immunoglobulin A: Fc(alpha)RI interactions induce neutrophil migration through release of leukotriene B4. (PMID:19555692)
  • Endocytosis of FcalphaR is clathrin- and dynamin-dependent, but is not regulated by Rab5, and the endocytic motif is not located in the cytoplasmic domain of FcalphaR. (PMID:19859085)
  • There is an association between the levels of sCD89-IgA complexes in serum and the severity of IgA nephropathy, and a possible genetic component in regulating the production or expression of sCD89. (PMID:20811333)
  • Data show that the Fc(alpha)RI 844 A>G polymorphism is not associated with systemic sclerosis or rheumatoid arthritis sceptibility. (PMID:21159834)
  • Genetic variation at the promoter region of IgA receptor is associated with IgA nephropathy. (PMID:21273231)
  • FcalphaRI defines a function for pentraxins in inflammatory responses involving neutrophils and macrophages. It also highlights the innate aspect of otherwise humoral immunity-associated antibody receptors. (PMID:21383176)
  • In this study, human mammary carcinoma cells are efficiently killed when incubated with human neutrophils and tumor-specific FcalphaRI bispecific or immunoglobulin A antibodies. (PMID:21653835)
  • FCAR polymorphism is not associated with high susceptibility to IGA nephropathy in caucasians. (PMID:21750160)
  • Glycosylation of the CH2/CH3 interface inhibits interaction with the pathogen IgA binding protein SSL7, while maintaining binding of pIgR, essential to the biosynthesis and transport of SIgA. (PMID:21784854)
  • Abnormally glycosylated IgA1 and soluble CD89-IgA and IgA-IgG complexes, features of primary IgA nephropathy, are also present in alcoholic cirrhosis. (PMID:21866091)
  • These results suggest a role of anti-FcaRI Fab as a negative regulator in controlling the magnitude of the innate immune response (PMID:21985370)
  • this study examined the expression of IL-4 mRNA, IFN-c mRNA and FcaRI mRNA in tonsillar mononuclear cells of IgA nephropathy9(IgAN) patients and non-IgAN patients. (PMID:24732061)
  • induces different forms of neutrophil death, depending on the inflammatory microenvironment (PMID:25339672)
  • Findings suggest a basis for the use of Fc receptor I for IgA (FcalphaRI) as a molecular target for the treatment of lupus. (PMID:25907714)
  • In transgenic mice, IgAN pathogenesis involves impaired clearance of abnormal IgA via CD89, primarily by the Kupffer cells. Conditional IgAN progression in CD89 transgenic mice thus reveals important aspects of IgAN pathogenesis. (PMID:27437939)
  • a novel Fcar splice variant termed variant APD isolated from a healthy volunteer that lacks only the IgA-binding EC1 domain, is reported. (PMID:28103138)
  • FcalphaRI-induced cytokine production is orchestrated via upregulation of cytokine translation and caspase-1 activation, which is dependent on glycolytic reprogramming. (PMID:29491406)
  • Serum Soluble CD89-IgA Complexes Are Elevated in IgA Nephropathy without Immunosuppressant History. (PMID:32076466)
  • SIgA structures bound to Streptococcus pyogenes M4 and human CD89 provide insights into host-pathogen interactions. (PMID:37872175)

Cross-species orthologs

0 orthologs

Paralogs (25): GP6 (ENSG00000088053), LILRB1 (ENSG00000104972), LILRA1 (ENSG00000104974), LILRB5 (ENSG00000105609), A1BG (ENSG00000121410), KIR2DL1 (ENSG00000125498), LILRB2 (ENSG00000131042), IGSF1 (ENSG00000147255), LAIR2 (ENSG00000167618), KIR3DL1 (ENSG00000167633), OSCAR (ENSG00000170909), LILRB4 (ENSG00000186818), LILRA5 (ENSG00000187116), KIR2DL4 (ENSG00000189013), VSTM1 (ENSG00000189068), NCR1 (ENSG00000189430), LILRB3 (ENSG00000204577), KIR2DS4 (ENSG00000221957), LILRA4 (ENSG00000239961), LILRA2 (ENSG00000239998), KIR3DL2 (ENSG00000240403), KIR3DL3 (ENSG00000242019), KIR2DL3 (ENSG00000243772), LILRA6 (ENSG00000244482), TARM1 (ENSG00000248385)

Protein

Protein identifiers

Immunoglobulin alpha Fc receptorP24071 (reviewed: P24071)

All UniProt accessions (1): P24071

UniProt curated annotations — full annotation on UniProt →

Function. Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production.

Subunit / interactions. Associates with the Fc epsilon RI gamma 2 receptor inducing tyrosine phosphorylation of gamma 2. (Microbial infection) Interacts with Staphylococcus aureus protein SSL11.

Subcellular location. Cell membrane Cell membrane Cell membrane Secreted Secreted.

Tissue specificity. Isoform A.1, isoform A.2 and isoform A.3 are differentially expressed between blood and mucosal myeloid cells. Isoform A.1, isoform A.2 and isoform A.3 are expressed in monocytes. Isoform A.1 and isoform A.2 are expressed in alveolar macrophages; however only one isoform is expressed at alveolar macrophages surfaces.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (11)

UniProt IDNamesCanonical?
P24071-1A.1yes
P24071-2A.2
P24071-3A.3, RLA2
P24071-4B
P24071-5B-delta-S2
P24071-6U02
P24071-7L10
P24071-8U09
P24071-9U10
P24071-10U11
P24071-11U13

RefSeq proteins (8): NP_001991, NP_579803, NP_579805, NP_579806, NP_579807, NP_579808, NP_579811, NP_579812 (=MANE)

Domains & families (InterPro)

IDNameType
IPR003599Ig_subDomain
IPR013151Immunoglobulin_domDomain
IPR013783Ig-like_foldHomologous_superfamily
IPR036179Ig-like_dom_sfHomologous_superfamily
IPR050412Ig-like_Receptors_ImmuneRegFamily

Pfam: PF00047

UniProt features (49 total): strand 21, splice variant 8, glycosylation site 5, helix 3, disulfide bond 2, topological domain 2, sequence variant 2, domain 2, signal peptide 1, chain 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

6 structures.

PDBMethodResolution (Å)
9OFSX-RAY DIFFRACTION1.95
1UCTX-RAY DIFFRACTION2.1
9OFRX-RAY DIFFRACTION2.65
1OVZX-RAY DIFFRACTION3
1OW0X-RAY DIFFRACTION3.1
8SKUELECTRON MICROSCOPY3.2

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P24071-F183.610.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (2): 49–100, 146–193

Glycosylation sites (5): 177, 186, 65, 79, 141

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-6798695Neutrophil degranulation

MSigDB gene sets: 161 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_RESPONSE_TO_PEPTIDE, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_RESPONSE_TO_INTERFERON_ALPHA, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_UP, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MYELOID_LEUKOCYTE_ACTIVATION

GO Biological Process (12): neutrophil mediated immunity (GO:0002446), immune response-regulating signaling pathway (GO:0002764), immune response (GO:0006955), positive regulation of neutrophil apoptotic process (GO:0033031), cellular response to interferon-alpha (GO:0035457), Fc receptor signaling pathway (GO:0038093), neutrophil activation (GO:0042119), cellular response to lipopolysaccharide (GO:0071222), cellular response to type II interferon (GO:0071346), cellular response to interleukin-6 (GO:0071354), cellular response to tumor necrosis factor (GO:0071356), cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)

GO Molecular Function (2): IgA receptor activity (GO:0019766), IgA binding (GO:0019862)

GO Cellular Component (6): extracellular region (GO:0005576), plasma membrane (GO:0005886), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Innate Immune System1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular response to cytokine stimulus5
secretory granule membrane3
cellular anatomical structure2
tertiary granule2
myeloid leukocyte mediated immunity1
signal transduction1
regulation of immune response1
immune system process1
response to stimulus1
neutrophil apoptotic process1
positive regulation of immune system process1
regulation of neutrophil apoptotic process1
positive regulation of myeloid cell apoptotic process1
positive regulation of leukocyte apoptotic process1
response to interferon-alpha1
immune response-regulating cell surface receptor signaling pathway1
granulocyte activation1
response to lipopolysaccharide1
cellular response to molecule of bacterial origin1
cellular response to lipid1
cellular response to oxygen-containing compound1
response to type II interferon1
response to interleukin-61
response to tumor necrosis factor1
response to granulocyte macrophage colony-stimulating factor1
immunoglobulin receptor activity1
IgA binding1
immunoglobulin binding1
membrane1
cell periphery1
specific granule1
ficolin-1-rich granule1

Protein interactions and networks

STRING

1084 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FCARFCER1GP30273977
FCARPIGRP01833905
FCARFCAMRQ8WWV6844
FCARFCGR1AP12314841
FCARFCGR2AP12318833
FCARTYROBPO43914819
FCARFCGR3BO75015785
FCARFCGR3AP08637783
FCARTFRCP02786760
FCARCRPP02741759
FCARFCER1AP12319739
FCARFCGRTP55899733
FCARCD300CQ08708728
FCARJCHAINP01591715
FCARASGR1P07306641

IntAct

18 interactions, top by confidence:

ABTypeScore
FCARIGHA1psi-mi:“MI:0407”(direct interaction)0.440
FCAREFR3Bpsi-mi:“MI:0915”(physical association)0.400
FCARPBLDpsi-mi:“MI:0915”(physical association)0.400
FCARsl11psi-mi:“MI:0915”(physical association)0.400
FCARLILRB2psi-mi:“MI:0915”(physical association)0.400
FCARCD33psi-mi:“MI:0915”(physical association)0.400
FCARIFNGR1psi-mi:“MI:0915”(physical association)0.400
FCARPDCD1LG2psi-mi:“MI:0915”(physical association)0.400
FCARSIGLEC10psi-mi:“MI:0915”(physical association)0.400
FCARSIGLEC14psi-mi:“MI:0915”(physical association)0.400
FCARSIGLEC6psi-mi:“MI:0915”(physical association)0.400
IFNGR1FCARpsi-mi:“MI:0915”(physical association)0.400
LILRB2FCARpsi-mi:“MI:0915”(physical association)0.400
FCARPIGRpsi-mi:“MI:0915”(physical association)0.400
ECE1FCARpsi-mi:“MI:0915”(physical association)0.370
Mpsi-mi:“MI:0914”(association)0.350

BioGRID (11): HAL (Affinity Capture-MS), EFR3B (Affinity Capture-MS), FCAR (Affinity Capture-Western), FCER1G (Affinity Capture-Western), EFR3B (Affinity Capture-MS), FCAR (Affinity Capture-Western), FCGR1A (Affinity Capture-Western), EFR3B (Affinity Capture-MS), LYN (Affinity Capture-Western), PBLD (Affinity Capture-MS), FCGR1A (Affinity Capture-Western)

ESM2 similar proteins: A0A0E4BZH1, A4QPC6, A5D7V5, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XV04, A7XV07, A8K4G0, A8MVZ5, O70355, P08508, P18892, P24071, P31994, P55803, P78410, P79391, Q13410, Q16653, Q29ZQ1, Q3KPI0, Q58DF9, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6Q8B3, Q6UXZ3, Q6XJV4, Q6XJV6, Q7KYR7, Q7TST0, Q7YR73, Q8BTP3, Q8K249, Q8TD46

Diamond homologs: A0A0G2KBC9, A6NI73, C0HJX2, C0HJX3, D3ZQX2, O75019, O75022, O75023, O76036, P0C191, P24071, P43626, P43629, P43630, P59901, P83556, P97484, Q14943, Q14954, Q61450, Q64281, Q6GTX8, Q6ISS4, Q6PI73, Q7TQA1, Q863H2, Q8C567, Q8IYS5, Q8MJZ2, Q8MJZ7, Q8N109, Q8N149, Q8N423, Q8N6C8, Q8N743, Q8NHJ6, Q8NHK3, Q8NHL6, Q95JB9, Q9HCN6

SIGNOR signaling

7 interactions.

AEffectBMechanism
FCARup-regulatesCytokine_production
FCARup-regulatesPhagocytosis
FCARup-regulatesImmune_response
GSK3A“down-regulates activity”FCARphosphorylation
GSK3B“down-regulates activity”FCARphosphorylation
PPP2CA“up-regulates activity”FCARdephosphorylation
“Immune complexes”“up-regulates activity”FCARrelocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

71 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance58
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

941 predictions. Top by Δscore:

VariantEffectΔscore
19:54875328:A:AGacceptor_gain1.0000
19:54875329:G:GGacceptor_gain1.0000
19:54889646:CAG:Cacceptor_loss1.0000
19:54889647:A:AGacceptor_gain1.0000
19:54889647:A:ATacceptor_loss1.0000
19:54889648:G:GAacceptor_gain1.0000
19:54889648:GA:Gacceptor_gain1.0000
19:54889648:GACT:Gacceptor_gain1.0000
19:54889648:GACTC:Gacceptor_gain1.0000
19:54874322:TGG:Tdonor_loss0.9900
19:54874324:GT:Gdonor_loss0.9900
19:54875329:GT:Gacceptor_gain0.9900
19:54875367:T:Adonor_loss0.9900
19:54885448:C:Tdonor_gain0.9900
19:54885523:CAGGT:Cdonor_loss0.9900
19:54885524:AGGTA:Adonor_loss0.9900
19:54885526:G:Cdonor_loss0.9900
19:54885527:T:Adonor_loss0.9900
19:54888006:GGCTT:Gacceptor_gain0.9900
19:54889640:T:TAacceptor_gain0.9900
19:54889646:CAGA:Cacceptor_gain0.9900
19:54889648:GAC:Gacceptor_gain0.9900
19:54874324:G:GGdonor_gain0.9800
19:54874326:GAG:Gdonor_loss0.9800
19:54885233:A:AGacceptor_gain0.9800
19:54885233:AG:Aacceptor_gain0.9800
19:54885233:AGG:Aacceptor_gain0.9800
19:54885233:AGGG:Aacceptor_gain0.9800
19:54885234:G:GGacceptor_gain0.9800
19:54885234:GG:Gacceptor_gain0.9800

AlphaMissense

1881 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:54888222:T:AC193S0.987
19:54888223:G:CC193S0.987
19:54888111:T:CF156L0.985
19:54888113:T:AF156L0.985
19:54888113:T:GF156L0.985
19:54888267:A:CS208R0.984
19:54888269:T:AS208R0.984
19:54888269:T:GS208R0.984
19:54885309:T:AC49S0.983
19:54885310:G:CC49S0.983
19:54885456:T:GY98D0.983
19:54888081:T:AC146S0.982
19:54888082:G:CC146S0.982
19:54885462:T:AC100S0.981
19:54885463:G:CC100S0.981
19:54888222:T:CC193R0.980
19:54888083:C:GC146W0.979
19:54888224:C:GC193W0.979
19:54888177:T:CF178L0.975
19:54888179:C:AF178L0.975
19:54888179:C:GF178L0.975
19:54888216:T:GY191D0.973
19:54888268:G:TS208I0.973
19:54888081:T:CC146R0.971
19:54888223:G:AC193Y0.971
19:54888082:G:AC146Y0.970
19:54885417:T:CF85L0.969
19:54885419:C:AF85L0.969
19:54885419:C:GF85L0.969
19:54888102:T:CF153L0.968

dbSNP variants (sampled 300 via entrez): RS1000259878 (19:54885844 G>A,C,T), RS1000280412 (19:54881770 G>A), RS1000294146 (19:54876464 T>C), RS1000319943 (19:54876344 G>A), RS1000364978 (19:54881369 C>A,G), RS1000573830 (19:54886108 C>A,G,T), RS1000653620 (19:54880650 T>C), RS1000966533 (19:54889337 A>C,T), RS1001035036 (19:54879379 T>C,G), RS1001066979 (19:54890512 C>G), RS1001473446 (19:54873297 G>A), RS1001499563 (19:54882132 G>T), RS1001738478 (19:54891285 G>A,C), RS1001829974 (19:54880900 A>G), RS1001903518 (19:54880739 G>A)

Disease associations

OMIM: gene MIM:147045 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST004133_69Ulcerative colitis1.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs11666735FCAR0.000

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

Most potent curated ligand interactions (1 total), top 1:

LigandActionAffinityParameter
BsAb (CD89-CD20)Binding8.49pKd

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases reaction, increases expression, affects methylation, decreases methylation3
triphenyl phosphateaffects expression1
sulforaphaneincreases expression1
3,4,5,3’,4’-pentachlorobiphenylincreases expression1
di-n-butylphosphoric acidaffects expression1
fipronildecreases expression1
CGP 52608affects binding, increases reaction1
erucylphospho-N,N,N-trimethylpropylammoniumincreases expression1
abrineincreases expression1
bisphenol Sdecreases methylation1
gardiquimoddecreases expression, decreases reaction1
Cadmiumdecreases expression, increases abundance1
Cisplatinincreases expression1
Dactinomycinincreases expression, decreases reaction1
Dustincreases expression1
Folic Acidincreases expression1
Gasolineincreases abundance, increases expression, affects cotreatment1
Methylcholanthreneincreases expression1
Phthalic Acidsincreases methylation1
Polycyclic Aromatic Hydrocarbonsincreases expression, affects cotreatment, increases abundance1
Tretinoinincreases expression1
Antirheumatic Agentsdecreases expression1
Cadmium Chloridedecreases expression, increases abundance1
Protein Kinase Inhibitorsdecreases expression, decreases reaction1
Particulate Matterincreases abundance, increases expression, affects cotreatment1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_1F83TZM-bl/FcalphaRCancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.