FCRL4

Summary

FCRL4 (Fc receptor like 4, HGNC:18507) is a protein-coding gene on chromosome 1q23.1, encoding Fc receptor-like protein 4 (Q96PJ5). May function as an inhibitor of the B-cell receptor signaling.

This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains three immune-receptor tyrosine-based inhibitory motifs. This protein may play a role in the function of memory B-cells in the epithelia. Aberrations in the chromosomal region encoding this gene are associated with non-Hodgkin lymphoma and multiple myeloma.

Source: NCBI Gene 83417 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 84 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_031282

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18507
Approved symbol	FCRL4
Name	Fc receptor like 4
Location	1q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FCRH4, IRTA1, IGFP2, CD307d
Ensembl gene	ENSG00000163518
Ensembl biotype	protein_coding
OMIM	605876
Entrez	83417

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000271532, ENST00000448509, ENST00000479869

RefSeq mRNA: 1 — MANE Select: NM_031282 NM_031282

CCDS: CCDS1166

Canonical transcript exons

ENST00000271532 — 12 exons

Exon	Start	End
ENSE00000959108	157589204	157589458
ENSE00001054954	157596328	157596348
ENSE00001075588	157597914	157598085
ENSE00001075592	157573747	157575610
ENSE00003492632	157587865	157588119
ENSE00003496079	157578474	157578542
ENSE00003596648	157580321	157580348
ENSE00003611917	157586168	157586455
ENSE00003615895	157587276	157587560
ENSE00003645167	157575699	157575730
ENSE00003681083	157581531	157581644
ENSE00003686776	157578770	157578852

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 90.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0273 / max 10.8673, expressed in 13 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15271	0.0183	6
15270	0.0090	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	90.75	silver quality
epithelium of nasopharynx	UBERON:0001951	80.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.39	gold quality
ileal mucosa	UBERON:0000331	73.84	gold quality
vermiform appendix	UBERON:0001154	72.88	gold quality
lymph node	UBERON:0000029	67.16	gold quality
caecum	UBERON:0001153	66.68	gold quality
tibialis anterior	UBERON:0001385	63.81	silver quality
tonsil	UBERON:0002372	63.21	gold quality
tendon of biceps brachii	UBERON:0008188	55.71	gold quality
upper leg skin	UBERON:0004262	55.35	silver quality
deltoid	UBERON:0001476	54.85	silver quality
spleen	UBERON:0002106	54.84	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
epithelial cell of pancreas	CL:0000083	53.73	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
palpebral conjunctiva	UBERON:0001812	53.18	silver quality
pancreatic ductal cell	CL:0002079	52.44	silver quality
rectum	UBERON:0001052	52.35	gold quality
small intestine Peyer’s patch	UBERON:0003454	51.43	gold quality
superior surface of tongue	UBERON:0007371	51.39	gold quality
mucosa of transverse colon	UBERON:0004991	50.90	gold quality
sural nerve	UBERON:0015488	50.73	gold quality
myocardium	UBERON:0002349	50.25	gold quality
small intestine	UBERON:0002108	50.13	gold quality
medial globus pallidus	UBERON:0002477	50.11	gold quality
pigmented layer of retina	UBERON:0001782	48.90	gold quality
oral cavity	UBERON:0000167	48.66	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

84 targeting FCRL4, 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-7110-3P	100.00	73.18	2486
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6817-3P	99.79	68.35	2126

Literature-anchored findings (GeneRIF, showing 26)

• 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)
• role of IRTA1 in the immune function of B cells within epithelia (PMID:12881317)
• Monocytoid B cells differ in their antigen profile (presence of IRTA1) from splenic and nodal marginal zone B cells. (PMID:16079106)
• Cell surface expression of this immunoregulatory molecule is restricted to a subpopulation of memory B cells. (PMID:16157685)
• 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 FCRL4 is associated with acute lymphoblastic leukemia. (PMID:18802695)
• FCRL4 is located on atypical memory B cells population significantly expanded in Plasmodium falciparum-exposed Malian adults and children (PMID:19592645)
• Data suggest that expression of FcRL4 in B-cells results in inhibition of BCR signaling at point of Syk phosphorylation by mechanism that involves phosphorylation of FcRL4 and its association with SHP-1/SHP-2. (PMID:21908428)
• In cellular binding assays, as a bona fide receptor FcRL4 binds efficiently to immunoglobulin (Ig)A. (PMID:22491254)
• The cytological features, growth pattern and IRTA1 positivity in nodal marginal zone lymphomas suggest they may derive from IRTA1(+) perifollicular B cells or monocytoid B cells detectable in reactive lymph nodes. (PMID:22716304)
• The FCRL4 polymorphisms may play an important role in the susceptibility and severity of ankylosing spondylitis in the Chinese Han population. (PMID:22777505)
• IRTA1 and T-bet are positive markers for the diagnosis of nodal marginal zone lymphoma (PMID:23855758)
• Data indicate that signaling by HIV-1 gp120 through integrin alpha4beta7 resulted in increased expression of the immunosuppressive cytokine TGF-beta1 and FcRL4. (PMID:24162774)
• The observed significant gene-environment interaction suggests that drinking and cooking oil use with FCRL4 gene polymorphism has a significant interaction. (PMID:25012527)
• Significantly increased FCRL4 mRNA only in Graves disease patients but not in Hashimoto patients compared to normal controls. (PMID:25738996)
• we provide evidence for involvement of HCK and FGR in FCRL4-mediated immunoregulation and for the functional importance of posttranslational modifications of the FCRL4 molecule. (PMID:25972488)
• decreased FCRL4 expression and association of FCRL2 expression with inflammatory markers and disease activity suggested the contribution of these molecules to rheumatoid arthritis inflammatory processes. (PMID:27193470)
• Commercially available IRTA1 antibody can immunohistochemically distinguish MALT lymphoma from other low-grade B-cell lymphomas. (PMID:27666766)
• We conclude that these activated B cells are a component of the local autoimmune response, and through their RANKL expression, can contribute to joint destruction. Furthermore, their expression of FcRL4 and their enrichment in the IgA isotype points towards a potential role for these cells in the link between mucosal and joint inflammation. (PMID:28343748)
• intraepithelial FcRL4(+) B-cells are present in the salivary glands of pSS patients. These cells are likely involved in the epithelial changes seen in pSS. Their enrichment in parotid glands may explain why MALT lymphomas in pSS patients preferentially develop at this specific location. (PMID:28390747)
• Abs with reactivity to commensal microbiota were enriched in FCRL4(+) cells. (PMID:29703863)
• IRTA1 and MNDA are useful markers in the differential diagnosis of marginal zone lymphomas (MZLs). (PMID:30346478)
• Gene expression profiling of epithelium-associated FcRL4(+) B cells in primary Sjogren’s syndrome reveals a pathogenic signature. (PMID:32201227)
• Fc receptor-like 4 and 5 define human atypical memory B cells. (PMID:32805738)
• The Multiple Roles of B Cells in the Pathogenesis of Sjogren’s Syndrome. (PMID:34168653)
• IRTA1 positivity helps identify a MALT-lymphoma-like subset of primary cutaneous marginal zone lymphomas, largely but not exclusively defined by IgM expression. (PMID:34309899)

Cross-species orthologs

0 orthologs

Paralogs (17): FCGR2B (ENSG00000072694), FCRLA (ENSG00000132185), FCRL2 (ENSG00000132704), FCGR2A (ENSG00000143226), FCRL5 (ENSG00000143297), FCGR1A (ENSG00000150337), FCRL3 (ENSG00000160856), FCRLB (ENSG00000162746), FCGR3B (ENSG00000162747), FCRL1 (ENSG00000163534), FCER1A (ENSG00000179639), FCRL6 (ENSG00000181036), C17orf99 (ENSG00000187997), FCGR3A (ENSG00000203747), FCGR2C (ENSG00000244682), PECAM1 (ENSG00000261371), MILR1 (ENSG00000271605)

Protein

Protein identifiers

Fc receptor-like protein 4 — Q96PJ5 (reviewed: Q96PJ5)

Alternative names: Fc receptor homolog 4, IFGP family protein 2, Immune receptor translocation-associated protein 1

All UniProt accessions (1): Q96PJ5

UniProt curated annotations — full annotation on UniProt →

Function. May function as an inhibitor of the B-cell receptor signaling. May function in the B-cell-mediated immune response.

Subunit / interactions. Interacts with PTPN6 and PTPN11.

Subcellular location. Cell membrane.

Tissue specificity. Specifically expressed by memory and monocytoid B-cells which populate spleen and lymph nodes. Preferentially expressed in memory B-cells associated with mucosal tissue (at protein level).

Post-translational modifications. Phosphorylated on cytoplasmic tyrosines upon activation.

Disease relevance. A chromosomal aberration involving FCRL4 is found in non-Hodgkin lymphoma (NHG). Translocation t(1;1)(p36.3; q21.1-2). A chromosomal aberration involving FCRL4 is found in multiple myeloma (MM). Translocation t(1;14)(q21;q32) that forms a FCRL4-IGHA1 fusion protein.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96PJ5-1	1	yes
Q96PJ5-2	2

RefSeq proteins (1): NP_112572* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013151	Immunoglobulin_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050488	Ig_Fc_receptor	Family

Pfam: PF00047, PF13895

UniProt features (28 total): disulfide bond 4, sequence variant 4, domain 4, short sequence motif 3, mutagenesis site 3, topological domain 2, signal peptide 1, chain 1, site 1, glycosylation site 1, splice variant 1, sequence conflict 1, transmembrane region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PJ5-F1	78.56	0.57

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 (1): 17–18 (breakpoint for insertion to form fcrl4-igha1 fusion protein)

Disulfide bonds (4): 44–85, 123–167, 212–261, 310–359

Glycosylation sites (1): 374

Mutagenesis-validated functional residues (3):

Position	Phenotype
451	no effect on function, phosphorylation and interaction with ptpn6 and ptpn11.
463	loss of function, phosphorylation and interaction with ptpn6 and ptpn11.
493	loss of interaction with ptpn6 and ptpn11 and partial loss of function and phosphorylation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 38 (showing top): GOCC_CELL_SURFACE, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, GOBP_ADAPTIVE_IMMUNE_RESPONSE, MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_17, MYLLYKANGAS_AMPLIFICATION_HOT_SPOT_24, GOCC_SIDE_OF_MEMBRANE, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_EXTERNAL_SIDE_OF_PLASMA_MEMBRANE, CENPT_TARGET_GENES, DLX4_TARGET_GENES, MIR4753_3P, MIR627_3P, MIR7110_3P, MIR6885_3P

GO Biological Process (4): adaptive immune response (GO:0002250), immune response (GO:0006955), cell surface receptor signaling pathway (GO:0007166), immune system process (GO:0002376)

GO Molecular Function (2): transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (4): external side of plasma membrane (GO:0009897), cell surface (GO:0009986), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
immune response	1
immune system process	1
response to stimulus	1
signal transduction	1
biological_process	1
signaling receptor activity	1
binding	1
plasma membrane	1
cell surface	1
side of membrane	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

772 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FCRL4	PIGR	P01833	794
FCRL4	PTPN11	Q06124	727
FCRL4	BCL9	O00512	709
FCRL4	C1GALT1C1	Q96EU7	671
FCRL4	CR2	P20023	663
FCRL4	CD27	P26842	654
FCRL4	FCAR	P24071	599
FCRL4	C1GALT1	Q9NS00	590
FCRL4	CD19	P15391	520
FCRL4	FCRL1	Q96LA6	517
FCRL4	MUC1	P13931	514
FCRL4	SIGLEC6	O43699	509
FCRL4	CD38	P28907	507
FCRL4	CD72	P21854	504
FCRL4	MME	P08473	476

IntAct

31 interactions, top by confidence:

A	B	Type	Score
JAGN1	FCRL4	psi-mi:“MI:0915”(physical association)	0.560
BMP10	FCRL4	psi-mi:“MI:0915”(physical association)	0.560
DTX2	FCRL4	psi-mi:“MI:0915”(physical association)	0.560
ZNF76	FCRL4	psi-mi:“MI:0915”(physical association)	0.560
FCRL4	NINJ2	psi-mi:“MI:0915”(physical association)	0.560
FCRL4	DERL1	psi-mi:“MI:0915”(physical association)	0.560
TFF1	FCRL4	psi-mi:“MI:0915”(physical association)	0.540
TFF2	FCRL4	psi-mi:“MI:0915”(physical association)	0.540
FCRL4	TFF1	psi-mi:“MI:0407”(direct interaction)	0.540
FCRL4	TFF2	psi-mi:“MI:0407”(direct interaction)	0.540
TFF1	FCRL4	psi-mi:“MI:0407”(direct interaction)	0.540
MUC15	CDS1	psi-mi:“MI:0914”(association)	0.530
FCRL5	FCRL4	psi-mi:“MI:0915”(physical association)	0.400
FCRL4	ADO	psi-mi:“MI:0914”(association)	0.350
TREX1	ITGB8	psi-mi:“MI:0914”(association)	0.350
MUC15	CORO1A	psi-mi:“MI:0914”(association)	0.350
FCRL4	HCCS	psi-mi:“MI:0914”(association)	0.350
DTX2	FCRL4	psi-mi:“MI:0915”(physical association)	0.000
ZNF76	FCRL4	psi-mi:“MI:0915”(physical association)	0.000
NINJ2	FCRL4	psi-mi:“MI:0915”(physical association)	0.000
DERL1	FCRL4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): FCRL4 (Affinity Capture-MS), ADO (Affinity Capture-MS), FCRL4 (Affinity Capture-MS), MOCS1 (Affinity Capture-MS), FCRL4 (Affinity Capture-MS), FCRL4 (Two-hybrid), FCRL4 (Two-hybrid), FCRL4 (Two-hybrid), FCRL4 (Two-hybrid), JAGN1 (Two-hybrid), NINJ2 (Two-hybrid), FCRL4 (Affinity Capture-MS), HCCS (Affinity Capture-MS), MOCS1 (Affinity Capture-MS), FCRL4 (Affinity Capture-MS)

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: 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, Q6DN72

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PAAD.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1590 predictions. Top by Δscore:

Variant	Effect	Δscore
1:157587275:CG:C	donor_gain	1.0000
1:157587352:T:TA	donor_gain	1.0000
1:157588045:T:A	donor_gain	1.0000
1:157575610:CCTGA:C	acceptor_loss	0.9900
1:157575611:CTGA:C	acceptor_loss	0.9900
1:157575612:T:C	acceptor_loss	0.9900
1:157578543:C:CC	acceptor_gain	0.9900
1:157587274:A:AC	donor_gain	0.9900
1:157587275:C:CC	donor_gain	0.9900
1:157587275:CGCTG:C	donor_gain	0.9900
1:157587326:A:AC	donor_gain	0.9900
1:157587327:C:CC	donor_gain	0.9900
1:157587348:AGGAT:A	donor_gain	0.9900
1:157589235:T:TA	donor_gain	0.9900
1:157597908:ACTT:A	donor_loss	0.9900
1:157597909:CTTA:C	donor_loss	0.9900
1:157597910:TTA:T	donor_loss	0.9900
1:157597911:TAC:T	donor_loss	0.9900
1:157597912:A:AC	donor_gain	0.9900
1:157597912:A:C	donor_loss	0.9900
1:157597913:C:CA	donor_loss	0.9900
1:157597913:C:CC	donor_gain	0.9900
1:157575607:CATC:C	acceptor_gain	0.9800
1:157575609:TC:T	acceptor_gain	0.9800
1:157575610:CC:C	acceptor_gain	0.9800
1:157575727:TTAG:T	acceptor_gain	0.9800
1:157578539:TGTA:T	acceptor_gain	0.9800
1:157580317:TCA:T	donor_loss	0.9800
1:157580318:CA:C	donor_loss	0.9800
1:157580320:CC:C	donor_loss	0.9800

AlphaMissense

3313 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:157587927:C:G	C167S	0.984
1:157587928:A:T	C167S	0.984
1:157588059:C:G	C123S	0.983
1:157588060:A:T	C123S	0.983
1:157589257:C:G	C85S	0.980
1:157589258:A:T	C85S	0.980
1:157586334:C:A	W323C	0.979
1:157586334:C:G	W323C	0.979
1:157587488:C:G	C212S	0.978
1:157587489:A:T	C212S	0.978
1:157587341:C:G	C261S	0.977
1:157587342:A:T	C261S	0.977
1:157586336:A:G	W323R	0.976
1:157586336:A:T	W323R	0.976
1:157586374:C:G	C310S	0.975
1:157586375:A:T	C310S	0.975
1:157586375:A:G	C310R	0.969
1:157588060:A:G	C123R	0.969
1:157586227:C:G	C359S	0.968
1:157586228:A:T	C359S	0.968
1:157586340:G:C	F321L	0.968
1:157586340:G:T	F321L	0.968
1:157586342:A:G	F321L	0.968
1:157587301:A:C	S274R	0.966
1:157587301:A:T	S274R	0.966
1:157587303:T:G	S274R	0.966
1:157587488:C:T	C212Y	0.966
1:157587928:A:G	C167R	0.963
1:157586373:G:C	C310W	0.959
1:157587934:A:C	Y165D	0.959

dbSNP variants (sampled 300 via entrez): RS1000125837 (1:157599491 T>G), RS1000463315 (1:157578446 C>A), RS1000655940 (1:157594124 A>C), RS1000657728 (1:157594918 T>C), RS1000743145 (1:157588698 G>A,T), RS1000763086 (1:157582549 C>T), RS1001062091 (1:157576721 A>C), RS1001136712 (1:157577111 T>G), RS1001155625 (1:157585230 C>A), RS1001255661 (1:157595658 G>A), RS1001370108 (1:157583971 G>A,C), RS1001383004 (1:157584164 A>T), RS1001429497 (1:157589692 T>A), RS1001819570 (1:157579624 C>G), RS1001916617 (1:157595994 A>G)

Disease associations

OMIM: gene MIM:605876 | disease phenotypes: MIM:236750

GenCC curated gene-disease

Mondo (1): non-immune hydrops fetalis (MONDO:0009369)

Orphanet (1): Non-immune hydrops fetalis (Orphanet:363999)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
arsenite	affects expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	affects cotreatment, decreases expression	1
Demecolcine	increases expression	1
Silicon Dioxide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04308603	Not specified	COMPLETED	Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT05528796	Not specified	ENROLLING_BY_INVITATION	Uncovering the Etiologies of Non-immune Hydrops Fetalis