FCMR

Summary

FCMR (Fc mu receptor, HGNC:14315) is a protein-coding gene on chromosome 1q32.1, encoding Immunoglobulin mu Fc receptor (O60667). High-affinity Fc receptor for immunoglobulin M (IgM), both secreted and membrane-bound IgM.

Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).

Source: NCBI Gene 9214 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_005449

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14315
Approved symbol	FCMR
Name	Fc mu receptor
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	TOSO, FcmuR
Ensembl gene	ENSG00000162894
Ensembl biotype	protein_coding
OMIM	606015
Entrez	9214

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000367091, ENST00000442471, ENST00000463473, ENST00000474041, ENST00000525793, ENST00000528654, ENST00000529560, ENST00000530505, ENST00000533312, ENST00000628511, ENST00000910307, ENST00000910308, ENST00000964736

RefSeq mRNA: 18 — MANE Select: NM_005449 NM_001142473, NM_001193338, NM_001405862, NM_001405863, NM_001405864, NM_001405865, NM_001405866, NM_001405867, NM_001405868, NM_001405871, NM_001405886, NM_001405887, NM_001405888, NM_001405889, NM_001405890, NM_001405891, NM_001405892, NM_005449

CCDS: CCDS1473, CCDS44304, CCDS53467

Canonical transcript exons

ENST00000367091 — 8 exons

Exon	Start	End
ENSE00001069593	206913759	206914094
ENSE00001920129	206903317	206905147
ENSE00003483940	206911730	206911952
ENSE00003484974	206921818	206921941
ENSE00003577076	206909725	206909868
ENSE00003583262	206909462	206909520
ENSE00003583293	206912929	206913042
ENSE00003663941	206910210	206910340

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 98.39.

FANTOM5 (CAGE): breadth broad, TPM avg 30.3166 / max 2045.6339, expressed in 852 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17108	20.7807	350
17109	6.5352	253
17107	0.8806	162
17095	0.7406	285
17101	0.4957	219
17110	0.2509	96
17096	0.1660	76
17097	0.1169	44
17103	0.1110	48
17102	0.0772	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	98.39	gold quality
granulocyte	CL:0000094	98.23	gold quality
lymph node	UBERON:0000029	97.48	gold quality
vermiform appendix	UBERON:0001154	97.31	gold quality
blood	UBERON:0000178	96.36	gold quality
caecum	UBERON:0001153	93.24	gold quality
epithelium of nasopharynx	UBERON:0001951	91.08	gold quality
bone marrow cell	CL:0002092	91.00	gold quality
thymus	UBERON:0002370	90.99	gold quality
ileal mucosa	UBERON:0000331	89.56	gold quality
bone marrow	UBERON:0002371	88.65	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.57	gold quality
tonsil	UBERON:0002372	87.83	gold quality
superficial temporal artery	UBERON:0001614	87.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.35	gold quality
gall bladder	UBERON:0002110	85.90	gold quality
small intestine	UBERON:0002108	85.07	gold quality
gastrocnemius	UBERON:0001388	84.63	gold quality
cervix squamous epithelium	UBERON:0006922	84.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.70	gold quality
hair follicle	UBERON:0002073	83.57	silver quality
rectum	UBERON:0001052	83.20	gold quality
type B pancreatic cell	CL:0000169	83.08	gold quality
trabecular bone tissue	UBERON:0002483	82.98	gold quality
mucosa of transverse colon	UBERON:0004991	82.87	gold quality
olfactory bulb	UBERON:0002264	82.85	gold quality
mucosa of urinary bladder	UBERON:0001259	82.73	gold quality
muscle of leg	UBERON:0001383	81.47	gold quality
omental fat pad	UBERON:0010414	81.28	gold quality
peritoneum	UBERON:0002358	81.23	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	92.14
E-CURD-120	yes	51.18
E-ANND-3	yes	36.59
E-MTAB-9067	yes	13.94
E-CURD-112	yes	13.35
E-MTAB-9543	yes	13.33
E-MTAB-9801	yes	4.89
E-MTAB-7606	no	3204.78
E-MTAB-8498	no	525.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

69 targeting FCMR, 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-5196-5P	100.00	67.98	2761
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-605-3P	99.88	69.22	1833
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-486-3P	99.51	66.82	1901

Literature-anchored findings (GeneRIF, showing 18)

• enzymatically modified-LDL-generated foam cells are protected from cell death most likely through the expression of TOSO by a FLIP(L) independent mechanism (PMID:17553462)
• demonstrated a 5.6-fold increase of TOSO protein in circulating CLL cells and lymph nodes (PMID:18434611)
• association with unmutated IgV(H) and the specific induction of TOSO via the BCR suggest autoreactive BCR signaling as a key mediator of apoptosis resistance in CLL. (PMID:18708628)
• TOSO as a mediator of resistance to apoptosis in chronic lymphocytic leukemia [review] (PMID:19347734)
• Although this receptor was initially designated as Fas apoptotic inhibitory molecule 3, or TOSO, our results indicate that FcmuR per se has no inhibitory activity in Fas-mediated apoptosis (PMID:19858324)
• These results identify TOSO/FAIM3 as a receptor for IgM (PMID:20042454)
• This review focuses on possible functional consequences of Plasmodium falciparum EMP1 protein interaction with the IgM receptor, including interference with immunologic signaling and clearance mechanisms and blocking of specific antibody binding. (PMID:20410497)
• TOSO is overexpressed and correlated with disease progression in chronic lymphocytic leukemia. (PMID:21133733)
• Overexpression of TOSO gene is associated with chronic lymphocytic leukemia. (PMID:21264533)
• we demonstrate that the immune specific cell surface molecule Toso exhibits antiapoptotic effects on death receptor signaling by a novel regulatory mechanism involving the adaptor kinase RIP1 (PMID:21613257)
• Overexpression of TOSO in chronic lymphocytic leukemia is associated with disease progression. (PMID:21756805)
• Enhanced levels of both membrane-bound and soluble forms of FcmuR in CLL patients. (PMID:21908424)
• TOSO/FAIM3 may play a role in immune surveillance and contribute to B cell activation (PMID:21908732)
• Toso/FcmuR is an IgM receptor capable of activating signaling molecules and whose expression alone is not inherently antiapoptotic. (PMID:22675200)
• We conclude that glutamine at position 510 in Cmu4 is critical for IgM binding to FcmuR. This will facilitate discrimination between the distinct effects of FcmuR interactions with soluble IgM and with the IgM BCR. (PMID:31449905)
• TGIF2 promotes cervical cancer metastasis by negatively regulating FCMR. (PMID:32572908)
• TOSO interacts with SYK and enhances BCR pathway activation in chronic lymphocytic leukemia. (PMID:32784334)
• Differences between Human and Mouse IgM Fc Receptor (FcmicroR). (PMID:34209905)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fcmr	ENSMUSG00000042474
rattus_norvegicus	Fcmr	ENSRNOG00000004441

Paralogs (13): TREM2 (ENSG00000095970), TMIGD3 (ENSG00000121933), CD300LG (ENSG00000161649), TREML1 (ENSG00000161911), PIGR (ENSG00000162896), FCAMR (ENSG00000162897), CD300C (ENSG00000167850), CD300A (ENSG00000167851), CD300LB (ENSG00000178789), CD300LF (ENSG00000186074), CD300E (ENSG00000186407), CD300LD (ENSG00000204345), CD300H (ENSG00000284690)

Protein

Protein identifiers

Immunoglobulin mu Fc receptor — O60667 (reviewed: O60667)

Alternative names: Fas apoptotic inhibitory molecule 3, Regulator of Fas-induced apoptosis Toso

All UniProt accessions (5): E9PMT7, E9PN59, E9PPV1, E9PQG1, O60667

UniProt curated annotations — full annotation on UniProt →

Function. High-affinity Fc receptor for immunoglobulin M (IgM), both secreted and membrane-bound IgM. Primarily regulates IgM transport and homeostasis. In lymphoid cells, enables exocytosis of membrane-bound IgM on the plasma membrane as well as endocytosis of IgM-antigen complexes toward lysosomes for degradation. In mucosal epithelium, mediates retrotranscytosis of antigen-IgM complexes across mucosal M cells toward antigen-presenting cells in mucosal lymphoid tissues. Triggers costimulatory signaling and mediates most of IgM effector functions involved in B cell development and primary immune response to infection. Likely limits tonic IgM BCR signaling to self-antigens for proper negative selection of autoreactive B cells in the bone marrow and for the maintenance of regulatory B cell pool in peripheral lymphoid organs. Mediates antibody responses to T cell-dependent and T cell-independent antigens and promotes induction of an efficient neutralizing IgG response. Engages in cross-talk with antigen-receptor signaling via the non-canonical NF-kappa-B, MAP kinases and calcium signaling pathways.

Subunit / interactions. Interacts (via Ig-like domain) with IGHM (via CH4/Cmu4 domain), both secreted and membrane-bound IgM; the interaction is glycan-independent and multivalent theoretically involving up to eight binding sites for the IgM pentamer.

Subcellular location. Cell membrane. Early endosome membrane. Golgi apparatus. trans-Golgi network membrane. Lysosome membrane Secreted.

Tissue specificity. Expressed by CD19-positive B cells and CD4-positive and CD8-positive T cell populations in primary and secondary lymphoid tissues (at protein level). Among B cell subsets, detected in a subset of bone marrow pro- and pre-B cells, in most follicular and memory B cells and in a small subset of germinal center B cells (at protein level). Expressed at lower levels in CD56-positive NK cells (at protein level). Expressed in lymph nodes, lung, thymus and kidneys. Very weak expression detected in spleen, liver, heart, and salivary gland.

Post-translational modifications. Phosphorylated on both Tyr and Ser residues. O-glycosylated. Sialylated. O-linked glycans regulate trafficking to the plasma membrane.

Domain organisation. The Ig-like V-set domain comprises three loops analogous to the complementarity-determining regions (CDR) of Ig variable domains, which are responsible for engaging IgM. Mediates multivalent interactions with the CH4 domains of pentameric IgM, facilitating receptor clustering and signaling.

Induction. Regulated by circulating IgM levels and immune cell activation signaling. Down-regulated in activated T cells, effector memory and central memory T cells, as well as in activated NK cells. Transcriptionally down-regulated upon TLR9 signaling. Down-regulated in response to IL7 and IL15. Down-regulated in old age.

Miscellaneous. Expressed in lymphoid cell lines such as Jurkat, CEM-T4, MOLT-4, HB11;19 and Reh. No expression detected in nonhematopoietic cell lines including Hep-G2, HEK293 and HeLa. Detected at high levels in chronic lymphocytic leukemia cells. ‘Toso’ is a Japanese liquor drunk on New Year’s day to celebrate long life and eternal youth.

Isoforms (3)

UniProt ID	Names	Canonical?
O60667-1	1	yes
O60667-2	2
O60667-3	3

RefSeq proteins (18): NP_001135945, NP_001180267, NP_001392791, NP_001392792, NP_001392793, NP_001392794, NP_001392795, NP_001392796, NP_001392797, NP_001392800, NP_001392815, NP_001392816, NP_001392817, NP_001392818, NP_001392819, NP_001392820, NP_001392821, NP_005440* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050671	CD300_family_receptors	Family

Pfam: PF07686

UniProt features (57 total): mutagenesis site 20, strand 8, region of interest 6, compositionally biased region 3, site 3, splice variant 3, helix 3, disulfide bond 2, topological domain 2, turn 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
7YTE	X-RAY DIFFRACTION	3
8BPG	ELECTRON MICROSCOPY	3.1
7YSG	ELECTRON MICROSCOPY	3.18
7YTC	ELECTRON MICROSCOPY	3.39
8BPF	ELECTRON MICROSCOPY	3.5
8BPE	ELECTRON MICROSCOPY	3.63
7YTD	ELECTRON MICROSCOPY	3.71

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60667-F1	64.98	0.30

Functional residue map

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

Catalytic / active sites (3): 253 (receptor capping); 366 (receptor-mediated endocytosis); 385 (receptor-mediated endocytosis)

Post-translational modifications (1): 92

Disulfide bonds (2): 37–104, 49–58

Mutagenesis-validated functional residues (20):

Position	Phenotype
45	completely abolishes interaction with igm resulting in impaired igm internalization.
67	completely abolishes interaction with igm; when associated with a-69.
69	completely abolishes interaction with igm; when associated with a-67.
109	displays reduced interaction with igm; when associated with a-112.
112	displays reduced interaction with igm; when associated with a-109.
164	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-165.
165	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-164.
178	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-179, a-181, a-182 and a-185.
179	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-178, a-181, a-182 and a-185.
181	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-178, a-179, a-182 and a-185.
182	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-178, a-179, a-181 and a-185.
185	impairs o-glycosylation and trafficking to the plasma membrane; when associated with a-178, a-179, a-181 and a-182.
203	does not affect o-glycosylation or trafficking to the plasma membrane.
253	enhances receptor capping.
273–323	has no effect on igm binding or trafficking.
315	does not affect receptor-mediated endocytosis. abolishes calcium mobilization upon co-ligation of fcmr and cd2.
324–357	abolishes trafficking to the plasma membrane.
359–390	does not affect expression or igm binding at the cell surface. abolishes internalization via endocytosis.
366	abolishes receptor-mediated endocytosis and calcium mobilization upon co-ligation of fcmr and cd2.
385	abolishes receptor-mediated endocytosis and calcium mobilization upon co-ligation of fcmr and cd2.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 292 (showing top): GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, WALLACE_PROSTATE_CANCER_RACE_UP, BASSO_B_LYMPHOCYTE_NETWORK, GOCC_VACUOLAR_MEMBRANE, GCANCTGNY_MYOD_Q6, MODULE_45, AREB6_03, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_B_CELL_MEDIATED_IMMUNITY, NIKOLSKY_BREAST_CANCER_1Q32_AMPLICON, BROWNE_HCMV_INFECTION_48HR_DN

GO Biological Process (9): immunoglobulin transcytosis in epithelial cells (GO:0002414), humoral immune response mediated by circulating immunoglobulin (GO:0002455), cellular defense response (GO:0006968), signal transduction (GO:0007165), negative regulation of apoptotic process (GO:0043066), regulation of B cell receptor signaling pathway (GO:0050855), Fc receptor-mediated immune complex endocytosis (GO:0160006), immune system process (GO:0002376), Fc receptor signaling pathway (GO:0038093)

GO Molecular Function (5): polymeric immunoglobulin binding (GO:0001790), IgM binding (GO:0001791), high-affinity IgM receptor activity (GO:0002172), transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (11): extracellular region (GO:0005576), nucleoplasm (GO:0005654), lysosomal membrane (GO:0005765), Golgi apparatus (GO:0005794), centrosome (GO:0005813), plasma membrane (GO:0005886), early endosome membrane (GO:0031901), trans-Golgi network membrane (GO:0032588), lysosome (GO:0005764), endosome (GO:0005768), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
immunoglobulin binding	2
endomembrane system	2
transcytosis	1
humoral immune response	1
immunoglobulin mediated immune response	1
defense response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
B cell receptor signaling pathway	1
regulation of antigen receptor-mediated signaling pathway	1
receptor-mediated endocytosis	1
biological_process	1
immune response-regulating cell surface receptor signaling pathway	1
IgM receptor activity	1
signaling receptor activity	1
binding	1
nuclear lumen	1
lysosome	1
lytic vacuole membrane	1
cytoplasm	1
intracellular membrane-bounded organelle	1
centriole	1
microtubule organizing center	1
membrane	1
cell periphery	1
early endosome	1
endosome membrane	1
trans-Golgi network	1
organelle membrane	1
lytic vacuole	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

926 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FCMR	CFLAR	O15519	555
FCMR	FASLG	P48023	454
FCMR	JCHAIN	P01591	445
FCMR	FADD	Q13158	443
FCMR	VPREB3	Q9UKI3	434
FCMR	CASP8	Q14790	434
FCMR	BCL2L1	Q07817	423
FCMR	FCAMR	Q8WWV6	393
FCMR	BCL2	P10415	383
FCMR	FCRLA	Q7L513	376
FCMR	PIGR	P01833	368
FCMR	PIGT	Q969N2	332
FCMR	SMIM12	Q96EX1	311
FCMR	FAIM	Q9NVQ4	305
FCMR	CD22	P20273	302

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FCMR	ANKRD2	psi-mi:“MI:0915”(physical association)	0.370
HOXD9	FCMR	psi-mi:“MI:0915”(physical association)	0.370
FCMR	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
eno	FCMR	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): HNRNPA2B1 (Cross-Linking-MS (XL-MS)), DNAH2 (Cross-Linking-MS (XL-MS)), DNAH6 (Cross-Linking-MS (XL-MS)), HNRNPA1L2 (Cross-Linking-MS (XL-MS)), HNRNPA3 (Cross-Linking-MS (XL-MS)), HNRNPA1 (Cross-Linking-MS (XL-MS)), FAIM3 (Cross-Linking-MS (XL-MS)), FAIM3 (Cross-Linking-MS (XL-MS)), FAIM3 (Two-hybrid), ZNHIT3 (Two-hybrid), ANKRD2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GV85, A2ALI5, A2APT9, B0BN44, B1ARY8, B6ZI38, O14836, O35188, O55145, O60279, O60667, P07141, P09603, P0C8S2, P28906, P40225, P40226, P42705, P78423, Q06154, Q08DV9, Q13261, Q1ERP8, Q28270, Q2TB54, Q3UY90, Q4V9H3, Q4W8E7, Q5F267, Q5R770, Q60819, Q64314, Q6PAL1, Q6PCP7, Q6UXB8, Q80XI1, Q8BLK9, Q8CAE9, Q8CBC4, Q8JZQ0

Diamond homologs: A1KXC4, O60667, O70570, P01832, P01833, P0DUB1, P15083, P81265, Q2TB54, Q5M871, Q5R770, Q8WWV6, A0A0K2S4Q6, A2A7V7, A2TGX5, A5D7B2, G3X8R9, Q08708, Q1ERP8, Q496F6, Q566E6, Q6SJQ0, Q6SJQ5, Q6SJQ7, Q6UXG3, Q7TSN2, Q8K249, Q8VCH2, Q9UGN4, Q3LRV9, Q29244, Q3U497, Q8TDQ1, A8K4G0, O95944, Q6UXN2, Q9NZC2, P0DMS9, Q8K558, Q2LA85

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	18
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1029 predictions. Top by Δscore:

Variant	Effect	Δscore
1:206909875:C:CT	acceptor_gain	1.0000
1:206909877:C:CT	acceptor_gain	1.0000
1:206909878:A:T	acceptor_gain	1.0000
1:206909883:C:CT	acceptor_gain	1.0000
1:206909883:C:T	acceptor_gain	1.0000
1:206909885:C:CT	acceptor_gain	1.0000
1:206909886:G:T	acceptor_gain	1.0000
1:206910205:CTCA:C	donor_loss	1.0000
1:206910206:TCACC:T	donor_loss	1.0000
1:206910207:CA:C	donor_loss	1.0000
1:206910209:C:A	donor_loss	1.0000
1:206910213:T:A	donor_gain	1.0000
1:206910339:CT:C	acceptor_gain	1.0000
1:206905145:CAC:C	acceptor_gain	0.9900
1:206905148:C:CA	acceptor_loss	0.9900
1:206905149:T:A	acceptor_loss	0.9900
1:206907600:T:A	donor_gain	0.9900
1:206907601:C:A	donor_gain	0.9900
1:206907635:T:TA	donor_gain	0.9900
1:206909719:GCTCA:G	donor_loss	0.9900
1:206909720:CTCAC:C	donor_loss	0.9900
1:206909721:TCACC:T	donor_loss	0.9900
1:206909722:CA:C	donor_loss	0.9900
1:206909724:C:CG	donor_loss	0.9900
1:206909869:C:CC	acceptor_gain	0.9900
1:206909875:C:T	acceptor_gain	0.9900
1:206909884:A:T	acceptor_gain	0.9900
1:206910216:T:TA	donor_gain	0.9900
1:206910336:GTGCT:G	acceptor_gain	0.9900
1:206910337:TGCT:T	acceptor_gain	0.9900

AlphaMissense

2481 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:206913986:C:G	C49S	0.988
1:206913987:A:T	C49S	0.988
1:206914022:C:G	C37S	0.986
1:206914023:A:T	C37S	0.986
1:206914023:A:G	C37R	0.985
1:206913945:A:G	S63P	0.984
1:206913821:C:G	C104S	0.982
1:206913822:A:T	C104S	0.982
1:206913871:G:C	F87L	0.981
1:206913871:G:T	F87L	0.981
1:206913873:A:G	F87L	0.981
1:206913825:C:G	A103P	0.980
1:206913872:A:C	F87C	0.979
1:206913983:C:G	R50P	0.978
1:206913872:A:G	F87S	0.977
1:206913986:C:T	C49Y	0.977
1:206913987:A:G	C49R	0.977
1:206913985:G:C	C49W	0.976
1:206913822:A:G	C104R	0.975
1:206913828:A:C	Y102D	0.974
1:206913931:G:C	F67L	0.974
1:206913931:G:T	F67L	0.974
1:206913933:A:G	F67L	0.974
1:206913821:C:T	C104Y	0.973
1:206913908:C:G	R75P	0.973
1:206913839:T:A	D98V	0.967
1:206913839:T:C	D98G	0.967
1:206913839:T:G	D98A	0.967
1:206914021:G:C	C37W	0.967
1:206913827:T:C	Y102C	0.966

dbSNP variants (sampled 300 via entrez): RS1000038588 (1:206905112 C>G,T), RS1000337753 (1:206904843 A>G,T), RS1000594936 (1:206917337 A>T), RS1000615249 (1:206910678 C>T), RS1000668506 (1:206917098 A>G), RS1000785924 (1:206918312 C>T), RS1000837926 (1:206911730 C>A,G), RS1000860308 (1:206923378 T>C), RS1001154337 (1:206923134 G>A), RS1001230296 (1:206923551 G>A,T), RS1001281551 (1:206916368 A>G), RS1001396694 (1:206903397 C>G,T), RS1001548956 (1:206905523 C>T), RS1001605077 (1:206913330 G>T), RS1001678575 (1:206912994 C>A)

Disease associations

OMIM: gene MIM:606015 | 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):

Study	Trait	p-value
GCST001725_40	Inflammatory bowel disease	7.000000e-42

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: other protein — Immunoglobulin like domain containing proteins

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	increases expression, increases reaction, affects expression, affects cotreatment	3
Particulate Matter	increases abundance, increases expression, affects cotreatment	3
(+)-JQ1 compound	decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Coumestrol	affects cotreatment, increases expression, affects reaction	2
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
sulforaphane	increases expression	1
sodium arsenite	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
propionic acid	decreases expression	1
cupric chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
nickel acetate	affects expression	1
pinostrobin	increases expression	1
abrine	increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Pioglitazone	increases expression	1
Zoledronic Acid	increases expression	1
Troglitazone	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Menthol	increases expression	1
Nickel	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Silicon Dioxide	increases expression	1

Clinical trials (associated diseases)

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