FCRL5
gene geneOn this page
Also known as FCRH5IRTA2BXMAS1CD307e
Summary
FCRL5 (Fc receptor like 5, HGNC:18508) is a protein-coding gene on chromosome 1q23.1, encoding Fc receptor-like protein 5 (Q96RD9). Plays an important role in B-cell response to antigen that acts both as a negative or positive coreceptor.
This gene encodes a member of the immunoglobulin receptor superfamily and the Fc-receptor like family. This gene and several other Fc receptor-like gene members are clustered on the long arm of chromosome 1. The encoded protein is a single-pass type I membrane protein and contains 8 immunoglobulin-like C2-type domains. This gene is implicated in B cell development and lymphomagenesis. Alternatively spliced transcript variants encoding different isoforms have been identified.
Source: NCBI Gene 83416 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 165 total
- Druggable target: yes
- MANE Select transcript:
NM_031281
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18508 |
| Approved symbol | FCRL5 |
| Name | Fc receptor like 5 |
| Location | 1q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FCRH5, IRTA2, BXMAS1, CD307e |
| Ensembl gene | ENSG00000143297 |
| Ensembl biotype | protein_coding |
| OMIM | 605877 |
| Entrez | 83416 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding_CDS_not_defined, 4 protein_coding
ENST00000361835, ENST00000368189, ENST00000368190, ENST00000461387, ENST00000462218, ENST00000481082, ENST00000483875, ENST00000497286, ENST00000908742
RefSeq mRNA: 2 — MANE Select: NM_031281
NM_001195388, NM_031281
CCDS: CCDS1165
Canonical transcript exons
ENST00000361835 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001054960 | 157552332 | 157552515 |
| ENSE00001264413 | 157527617 | 157527895 |
| ENSE00001264419 | 157534614 | 157534892 |
| ENSE00001264430 | 157539086 | 157539364 |
| ENSE00001264598 | 157542859 | 157543137 |
| ENSE00003479129 | 157549560 | 157549580 |
| ENSE00003528854 | 157546943 | 157547197 |
| ENSE00003544831 | 157518429 | 157518497 |
| ENSE00003561540 | 157518700 | 157518782 |
| ENSE00003568030 | 157544262 | 157544546 |
| ENSE00003581045 | 157519743 | 157519770 |
| ENSE00003583056 | 157513377 | 157515764 |
| ENSE00003589093 | 157544831 | 157545082 |
| ENSE00003596041 | 157524279 | 157524557 |
| ENSE00003657132 | 157520431 | 157520547 |
| ENSE00003669508 | 157515842 | 157515873 |
| ENSE00003677470 | 157521017 | 157521292 |
Expression profiles
Bgee: expression breadth ubiquitous, 147 present calls, max score 93.29.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4360 / max 224.8713, expressed in 93 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15269 | 1.3701 | 92 |
| 201763 | 0.0336 | 17 |
| 201764 | 0.0183 | 11 |
| 15268 | 0.0140 | 7 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| spleen | UBERON:0002106 | 93.29 | gold quality |
| lymph node | UBERON:0000029 | 92.66 | gold quality |
| bone marrow cell | CL:0002092 | 90.93 | gold quality |
| granulocyte | CL:0000094 | 89.85 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.73 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.71 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.27 | gold quality |
| caecum | UBERON:0001153 | 85.22 | gold quality |
| pylorus | UBERON:0001166 | 85.18 | gold quality |
| tonsil | UBERON:0002372 | 84.52 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 80.77 | gold quality |
| superficial temporal artery | UBERON:0001614 | 79.96 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 79.53 | gold quality |
| bone marrow | UBERON:0002371 | 77.99 | gold quality |
| blood | UBERON:0000178 | 77.51 | gold quality |
| rectum | UBERON:0001052 | 77.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 76.35 | gold quality |
| sperm | CL:0000019 | 76.03 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 76.00 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 75.80 | gold quality |
| small intestine | UBERON:0002108 | 74.31 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.64 | gold quality |
| duodenum | UBERON:0002114 | 72.60 | gold quality |
| cardia of stomach | UBERON:0001162 | 71.01 | gold quality |
| minor salivary gland | UBERON:0001830 | 70.81 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 70.34 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 70.18 | gold quality |
| thymus | UBERON:0002370 | 69.22 | silver quality |
| transverse colon | UBERON:0001157 | 68.81 | gold quality |
| mouth mucosa | UBERON:0003729 | 68.80 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 449.91 |
| E-GEOD-135922 | yes | 271.48 |
| E-CURD-88 | yes | 110.75 |
| E-CURD-46 | yes | 52.02 |
| E-CURD-122 | yes | 50.92 |
| E-HCAD-1 | yes | 47.20 |
| E-HCAD-4 | yes | 46.42 |
| E-MTAB-8410 | yes | 43.00 |
| E-ANND-3 | yes | 34.99 |
| E-HCAD-11 | yes | 22.81 |
| E-MTAB-10553 | yes | 13.15 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RBPJ
miRNA regulators (miRDB)
67 targeting FCRL5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-12122 | 99.56 | 69.33 | 1672 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-485-5P | 99.10 | 64.78 | 1889 |
Literature-anchored findings (GeneRIF, showing 20)
- Characterization and comparison of the structure and B-cell expression pattern of the entire family of IRTA genes, which includes 5 members contiguously located on chromosome. (PMID:11929751)
- IRTA2 is expressed on the surface of human lymphoma cell lines and hairy cell leukemia cells (PMID:15671532)
- results identify FcRH5 as a novel, direct target of EBNA2 that may contribute to the development of Epstein-Barr virus-associated tumors (PMID:16439682)
- IRTA2/FcRH5 may have a role in hairy cell leukemia (PMID:16681430)
- Fc receptor-like 1-5 molecules are similarly expressed in progressive and indolent clinical subtypes of B-cell chronic lymphocytic leukemia. (PMID:18704934)
- Down-regulation of FCRL5 is associated with acute lymphoblastic leukemia. (PMID:18802695)
- Single-nucleotide polymorphism in the FCRL5 gene and HLA-B27 is associated with ankylosing spondylitis. (PMID:19775371)
- Three of the FCRL5 tag SNPs, rs6667109, rs3811035 and rs6692977 showed association with Graves’ disease. association with FCRL5 was secondary to linkage disequilibrium with the FCRL3, rs11264798 and rs10489678 SNPs. (PMID:20626413)
- Enhanced proliferation and downstream isotype expression upon FCRL5 stimulation could reflect a physiological role for FCRL5 in the expansion and development of antigen-primed B cells. (PMID:22028333)
- FcRL5 binds all immunoglobulin (Ig)G isotypes with varied efficiency. (PMID:22491254)
- FCRL5 is a new type of receptor that recognizes intact IgG, possibly enabling B cells to sense Ig quality. Recognition of undamaged IgG molecules by FCRL5 could allow B cells to engage recently produced Abs. (PMID:23616577)
- Data suggest that expression of FCRL5 (but not FCRL4) on surface of atypical (perhaps dysfunctional) memory B-Lymphocytes is up-regulated by exposure to Plasmodium falciparum antigens in subjects in Uganda where malaria is endemic. (PMID:25993340)
- we found that FCRL5 expression is induced specifically upon BCR stimulation and dissected the molecular mechanism (PMID:27065451)
- this study revealed that the FCRL5+ tissue-like memory subset responds poorly to multiple stimuli compared with the FCRL5- subset, as reflected by reduced calcium mobilization and blunted cell proliferation (PMID:27076679)
- based on FCRL5 binding, we can discern distinct changes in the IgG2 molecule, including the disulfide isoform structure and charge variants related to deamidation. Since both IgG2 deamidation and conversion of disulfide isoforms occur in vivo, these findings elucidate the biological FCRL5 ligand. (PMID:29101848)
- FCRL5 has dual signaling capacity, while CD21 co-engagement serves as molecular switch, converting FCRL5 from a negative to a positive co-receptor; in tissues, B cells that co-express FCRL5 and CD21 could robustly respond to IgG immune complexes loaded with C3 fragments (PMID:30107486)
- This study identified novel Single nucleotide polymorphism in FCRL3 and FCRL5 significantly associated with the risk for asthma with comorbid allergic rhinitis in the Chinese population (PMID:30771554)
- Fc receptor-like 4 and 5 define human atypical memory B cells. (PMID:32805738)
- The rs6427384 and rs6692977 Single Nucleotide Polymorphisms of the Fc Receptor-Like 5 (FCRL5) Gene and the Risk of Ankylosing Spondylitis: A Case Control Study in a Single Center in China. (PMID:32892204)
- SARS-CoV-2 spike-specific memory B cells express higher levels of T-bet and FcRL5 after non-severe COVID-19 as compared to severe disease. (PMID:34936684)
Cross-species orthologs
0 orthologs
Paralogs (17): FCGR2B (ENSG00000072694), FCRLA (ENSG00000132185), FCRL2 (ENSG00000132704), FCGR2A (ENSG00000143226), FCGR1A (ENSG00000150337), FCRL3 (ENSG00000160856), FCRLB (ENSG00000162746), FCGR3B (ENSG00000162747), FCRL4 (ENSG00000163518), FCRL1 (ENSG00000163534), FCER1A (ENSG00000179639), FCRL6 (ENSG00000181036), C17orf99 (ENSG00000187997), FCGR3A (ENSG00000203747), FCGR2C (ENSG00000244682), PECAM1 (ENSG00000261371), MILR1 (ENSG00000271605)
Protein
Protein identifiers
Fc receptor-like protein 5 — Q96RD9 (reviewed: Q96RD9)
Alternative names: BXMAS1, Fc receptor homolog 5, Immune receptor translocation-associated protein 2
All UniProt accessions (1): Q96RD9
UniProt curated annotations — full annotation on UniProt →
Function. Plays an important role in B-cell response to antigen that acts both as a negative or positive coreceptor. Inhibits B-cell receptor (BCR) signaling in the absence of CR2 stimulation but engagement with CR2 and the BCR lead to a superior calcium response compared to CR2 and BCR costimulation. May be involved in B-cell development and differentiation in peripheral lymphoid organs and may be useful markers of B-cell stages. May have an immunoregulatory role in marginal zone B-cells. May play a role in fertilization.
Subunit / interactions. Interacts with CR2. Interacts with CD19.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in marginal zone B-cells, immunoblasts, tonsillar germinal center centrocytes and in the intraepithelial and interfollicular regions of the tonsil. Expressed in many lymphoma cell lines and on hairy cell leukemia cells. Isoform 1, isoform 3, isoform 4 and isoform 5 are detected in lymph node, spleen, bone marrow, and small intestine with preponderance of isoform 3. Expressed in mature and memory B-cells and down-regulated in germinal center cells (at protein level).
Disease relevance. A chromosomal aberration involving FCRL5 has been found in cell lines with 1q21 abnormalities derived from Burkitt lymphoma. Duplication dup(1)(q21q32).
Domain organisation. Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM).
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96RD9-1 | 1, IRTA2c | yes |
| Q96RD9-2 | 2 | |
| Q96RD9-3 | 3, IRTA2a | |
| Q96RD9-4 | 4, IRTA2b | |
| Q96RD9-5 | 5, IRTA2d |
RefSeq proteins (2): NP_001182317, NP_112571* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050488 | Ig_Fc_receptor | Family |
Pfam: PF13895
UniProt features (45 total): domain 8, disulfide bond 8, splice variant 8, sequence variant 7, short sequence motif 4, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1, glycosylation site 1, transmembrane region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9LOD | ELECTRON MICROSCOPY | 3.16 |
| 9LOC | ELECTRON MICROSCOPY | 3.56 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96RD9-F1 | 76.51 | 0.26 |
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 (8): 44–85, 211–260, 308–355, 401–448, 494–541, 587–634, 680–727, 773–819
Glycosylation sites (1): 383
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 66 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_B_CELL_ACTIVATION, GOCC_CELL_SURFACE, GOBP_FERTILIZATION, VECCHI_GASTRIC_CANCER_EARLY_DN, GOCC_SIDE_OF_MEMBRANE, GOCC_RECEPTOR_COMPLEX, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, GOMF_CORECEPTOR_ACTIVITY, CHICAS_RB1_TARGETS_CONFLUENT, GOCC_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE, GOBP_LYMPHOCYTE_ACTIVATION, ZNF528_TARGET_GENES, ZNF768_TARGET_GENES
GO Biological Process (4): immune response (GO:0006955), cell surface receptor signaling pathway (GO:0007166), single fertilization (GO:0007338), B cell activation (GO:0042113)
GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), coreceptor activity (GO:0015026), protein binding (GO:0005515)
GO Cellular Component (5): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), signaling receptor complex (GO:0043235), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| signaling receptor activity | 2 |
| cellular anatomical structure | 2 |
| immune system process | 1 |
| response to stimulus | 1 |
| signal transduction | 1 |
| fertilization | 1 |
| lymphocyte activation | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane | 1 |
| cell surface | 1 |
| side of membrane | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1162 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FCRL5 | GPRC5D | Q9NZD1 | 819 |
| FCRL5 | PIGR | P01833 | 774 |
| FCRL5 | BCL9 | O00512 | 721 |
| FCRL5 | CR2 | P20023 | 587 |
| FCRL5 | CD27 | P26842 | 578 |
| FCRL5 | CD19 | P15391 | 545 |
| FCRL5 | MUC1 | P13931 | 538 |
| FCRL5 | SLAMF7 | Q9NQ25 | 533 |
| FCRL5 | CD38 | P28907 | 532 |
| FCRL5 | CEP70 | Q8NHQ1 | 526 |
| FCRL5 | TNFRSF17 | Q02223 | 506 |
| FCRL5 | CD72 | P21854 | 475 |
| FCRL5 | MS4A2 | Q01362 | 460 |
| FCRL5 | TBX21 | Q9UL17 | 453 |
| FCRL5 | SDC1 | P18827 | 442 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FCRL5 | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAGE1 | FCRL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USHBP1 | FCRL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FCRL5 | FCRL4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FCRL5 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| FCRL5 | AMOTL2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FCRL5 | CAGE1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FCRL5 | USHBP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): A2ML1 (Affinity Capture-MS), ACPP (Affinity Capture-MS), SERPINB4 (Affinity Capture-MS), ME1 (Affinity Capture-MS), SERPINB3 (Affinity Capture-MS), TGM1 (Affinity Capture-MS), FCRL5 (Two-hybrid), FCRL5 (Two-hybrid), CAGE1 (Two-hybrid), FCRL5 (Affinity Capture-MS), FCRL4 (Affinity Capture-MS), FCRL5 (Affinity Capture-MS), FCRL5 (Affinity Capture-MS), FCRL5 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K2S4Q6, A2A7V7, A6NI73, A8K4G0, O43699, O75019, O75022, O75023, O75871, O76036, P0C191, P20138, P24071, P40198, P59901, P80943, Q08708, Q13410, Q28110, Q3U497, Q496F6, Q64JA4, Q6GTX8, Q6ISS4, Q6PI73, Q6UXZ3, Q7TSN2, Q863H2, Q8C567, Q8K249, Q8MJZ2, Q8MJZ7, Q8N149, Q8N423, Q8N6C8, Q8NHJ6, Q8NHL6, Q8VBT3, Q8VCH2, Q95JB9
Diamond homologs: A0A0B4J1G0, A3RFZ7, E2RP87, G1T7E7, G1TR84, H0VDZ8, M3XWH1, O75015, P08101, P08508, P08637, P0DTI4, P12314, P12318, P12319, P12371, P20489, P26151, P27645, P31994, P31995, P79107, Q09TM2, Q09TM4, Q28110, Q28942, Q3B8P2, Q5DRQ8, Q60513, Q63203, Q6BAA4, Q6XPU4, Q8SPV8, Q8SPW2, Q920A9, Q92637, Q96PJ5, Q96RD9, Q9N2I5, A1YIY0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 121 |
| Likely benign | 22 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2626 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:157515874:C:CC | acceptor_gain | 1.0000 |
| 1:157518499:T:C | acceptor_gain | 1.0000 |
| 1:157518499:T:TC | acceptor_gain | 1.0000 |
| 1:157518780:CTC:C | acceptor_gain | 1.0000 |
| 1:157518782:CCTG:C | acceptor_loss | 1.0000 |
| 1:157518783:C:CC | acceptor_gain | 1.0000 |
| 1:157518783:CTGTG:C | acceptor_loss | 1.0000 |
| 1:157518784:T:A | acceptor_loss | 1.0000 |
| 1:157521012:CTTA:C | donor_loss | 1.0000 |
| 1:157521013:TTACC:T | donor_loss | 1.0000 |
| 1:157521014:TA:T | donor_loss | 1.0000 |
| 1:157521015:A:AC | donor_gain | 1.0000 |
| 1:157521016:C:A | donor_loss | 1.0000 |
| 1:157521016:C:CC | donor_gain | 1.0000 |
| 1:157521288:CGGAA:C | acceptor_gain | 1.0000 |
| 1:157521293:C:CC | acceptor_gain | 1.0000 |
| 1:157524558:C:CC | acceptor_gain | 1.0000 |
| 1:157539365:C:CC | acceptor_gain | 1.0000 |
| 1:157552326:ACT:A | donor_loss | 1.0000 |
| 1:157552327:CTC:C | donor_loss | 1.0000 |
| 1:157552328:TCA:T | donor_loss | 1.0000 |
| 1:157552329:CACCC:C | donor_loss | 1.0000 |
| 1:157552330:A:AC | donor_gain | 1.0000 |
| 1:157552330:A:T | donor_loss | 1.0000 |
| 1:157552330:AC:A | donor_gain | 1.0000 |
| 1:157552331:C:CC | donor_gain | 1.0000 |
| 1:157552331:CC:C | donor_gain | 1.0000 |
| 1:157552346:A:AC | donor_gain | 1.0000 |
| 1:157515869:GGCCA:G | acceptor_gain | 0.9900 |
| 1:157515871:CCA:C | acceptor_gain | 0.9900 |
AlphaMissense
6275 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:157544327:C:G | C260S | 0.985 |
| 1:157544328:A:T | C260S | 0.985 |
| 1:157542918:C:G | C355S | 0.982 |
| 1:157542919:A:T | C355S | 0.982 |
| 1:157544474:C:G | C211S | 0.982 |
| 1:157544475:A:T | C211S | 0.982 |
| 1:157539145:C:G | C448S | 0.975 |
| 1:157539146:A:T | C448S | 0.975 |
| 1:157544334:A:C | Y258D | 0.973 |
| 1:157544422:G:C | F228L | 0.973 |
| 1:157544422:G:T | F228L | 0.973 |
| 1:157544424:A:G | F228L | 0.973 |
| 1:157544474:C:T | C211Y | 0.973 |
| 1:157544900:A:C | Y164D | 0.973 |
| 1:157546996:C:G | C85S | 0.973 |
| 1:157546997:A:T | C85S | 0.973 |
| 1:157544475:A:G | C211R | 0.972 |
| 1:157539140:C:G | A450P | 0.971 |
| 1:157539286:C:G | C401S | 0.971 |
| 1:157539287:A:T | C401S | 0.971 |
| 1:157544428:G:C | F226L | 0.971 |
| 1:157544428:G:T | F226L | 0.971 |
| 1:157544430:A:G | F226L | 0.971 |
| 1:157543059:C:G | C308S | 0.969 |
| 1:157543060:A:T | C308S | 0.969 |
| 1:157534673:C:G | C541S | 0.968 |
| 1:157534674:A:T | C541S | 0.968 |
| 1:157539144:G:C | C448W | 0.967 |
| 1:157534668:C:G | A543P | 0.966 |
| 1:157521076:C:G | C819S | 0.965 |
dbSNP variants (sampled 300 via entrez): RS1000047883 (1:157531420 A>G), RS1000436157 (1:157548355 A>C), RS1000577338 (1:157548094 G>T), RS1000620773 (1:157553134 G>A), RS1000660992 (1:157526508 A>T), RS1000809787 (1:157520510 T>C), RS1000894800 (1:157538376 T>A), RS1001050827 (1:157532849 T>C), RS1001081329 (1:157515148 A>G), RS1001161999 (1:157516674 A>T), RS1001182070 (1:157549331 T>G), RS1001329775 (1:157543994 G>A), RS1001681569 (1:157516319 G>C,T), RS1001780949 (1:157522061 A>G), RS1001811921 (1:157521793 T>C)
Disease associations
OMIM: gene MIM:605877 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001304_8 | Renal sinus fat | 8.000000e-06 |
| GCST010724_2 | HOMA-B (corrected for HOMA-IR) | 3.000000e-07 |
| GCST011096_4 | Systemic lupus erythematosus | 9.000000e-13 |
| GCST90011866_6 | Systemic lupus erythematosus | 2.000000e-12 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004864 | renal sinus adipose tissue measurement |
| EFO:0004469 | HOMA-B |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066101 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Endosulfan | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Levonorgestrel | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.