RGS1

Summary

RGS1 (regulator of G protein signaling 1, HGNC:9991) is a protein-coding gene on chromosome 1q31.2, encoding Regulator of G-protein signaling 1 (Q08116). Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors.

This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal.

Source: NCBI Gene 5996 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_002922

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9991
Approved symbol	RGS1
Name	regulator of G protein signaling 1
Location	1q31.2
Locus type	gene with protein product
Status	Approved
Aliases	1R20, IR20, BL34
Ensembl gene	ENSG00000090104
Ensembl biotype	protein_coding
OMIM	600323
Entrez	5996

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 retained_intron, 3 protein_coding

ENST00000367459, ENST00000462589, ENST00000469578, ENST00000474373, ENST00000498352, ENST00000583155, ENST00000899878

RefSeq mRNA: 1 — MANE Select: NM_002922 NM_002922

CCDS: CCDS1375

Canonical transcript exons

ENST00000367459 — 5 exons

Exon	Start	End
ENSE00000790945	192578222	192578385
ENSE00000869800	192579137	192580024
ENSE00002329846	192576774	192576835
ENSE00003576069	192576285	192576365
ENSE00003611463	192575773	192575929

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 98.99.

FANTOM5 (CAGE): breadth broad, TPM avg 87.6613 / max 11157.1326, expressed in 634 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7438	87.6613	634

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	98.99	gold quality
olfactory bulb	UBERON:0002264	98.95	gold quality
right lung	UBERON:0002167	98.51	gold quality
rectum	UBERON:0001052	98.39	gold quality
vermiform appendix	UBERON:0001154	98.32	gold quality
tibial nerve	UBERON:0001323	98.28	gold quality
spinal cord	UBERON:0002240	98.21	gold quality
gall bladder	UBERON:0002110	97.91	gold quality
lymph node	UBERON:0000029	97.62	gold quality
epithelium of nasopharynx	UBERON:0001951	97.31	gold quality
right uterine tube	UBERON:0001302	96.67	gold quality
minor salivary gland	UBERON:0001830	96.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.59	gold quality
colonic epithelium	UBERON:0000397	96.27	gold quality
upper lobe of left lung	UBERON:0008952	95.70	gold quality
cranial nerve II	UBERON:0000941	95.61	gold quality
trigeminal ganglion	UBERON:0001675	95.56	gold quality
pericardium	UBERON:0002407	95.19	gold quality
visceral pleura	UBERON:0002401	95.06	gold quality
mucosa of urinary bladder	UBERON:0001259	94.87	gold quality
saliva-secreting gland	UBERON:0001044	94.71	gold quality
spleen	UBERON:0002106	94.58	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.54	gold quality
upper lobe of lung	UBERON:0008948	94.47	gold quality
tonsil	UBERON:0002372	94.45	gold quality
caecum	UBERON:0001153	94.10	gold quality
tibial artery	UBERON:0007610	93.79	gold quality
popliteal artery	UBERON:0002250	93.75	gold quality
choroid plexus epithelium	UBERON:0003911	93.48	gold quality
aorta	UBERON:0000947	93.37	gold quality

Single-cell (SCXA)

Detected in 37 experiment(s), a significant marker in 32.

Experiment	Marker?	Max mean expression
E-CURD-89	yes	14248.75
E-CURD-126	yes	7180.45
E-MTAB-8142	yes	5340.41
E-GEOD-84465	yes	5051.93
E-CURD-46	yes	4962.27
E-GEOD-134144	yes	4539.55
E-MTAB-8495	yes	3698.15
E-GEOD-106540	yes	3384.44
E-MTAB-10287	yes	3222.88
E-HCAD-1	yes	3033.27
E-GEOD-75688	yes	2791.95
E-CURD-79	yes	2054.40
E-MTAB-6075	yes	1502.02
E-GEOD-76312	yes	1198.21
E-HCAD-15	yes	1176.57

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RELA

miRNA regulators (miRDB)

53 targeting RGS1, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-4328	99.57	71.06	4094

Literature-anchored findings (GeneRIF, showing 31)

• Overexpression of RGS1 in progenitor pro-B cells (which have little endogenous RGS1) impairs CXCL12-induced focal adhesion kinase activation, chemotaxis, and adhesion to membrane domains. (PMID:15728464)
• RGS1 and RGS13 act together to regulate chemokine receptor signaling in human germinal center B lymphocytes and contribute significantly to the rapid desensitization of the signaling pathway. (PMID:16565322)
• RGS1 is (over-) expressed in a broad variety of malignancies (PMID:18301890)
• Results validate the role of RGS1 as a novel prognostic marker for melanoma given its impact on the survival associated with melanoma. (PMID:18580492)
• Undifferentiated spondylarthritis (uSpA) peripheral blood mononuclear cells (PBMCs) carry more expressed genes than PBMCs from ankylosing spondylitis (AS) patients. TNFalpha- and IL-17-inducible RGS1 is a biomarker for uSpA, and to a lesser extent for AS. (PMID:19877080)
• RGS1 is a novel multiple sclerosis susceptibility loci, shared with celieac disease. (PMID:20555355)
• Elevated RGS1 levels profoundly reduce T cell migration to lymphoid-homing chemokines (PMID:21795595)
• Markers in the RGS1 gene might be in linkage disequilibrium with a protective allele that reduces the risk of anxiety and depressive disorders. (PMID:23324853)
• RGS1 is largely upregulated, whereas RGS2 is downregulated in the majority of solid tumors, whereas RGS5 transcripts are greatly increased in eight subtypes of lymphoma with no reports of downregulation in hematological malignancies (PMID:23464602)
• RGS1 and TNFRSF1A polymorphisms tended to be associated with reduced attack severity in Multiple sclerosis. (PMID:24130709)
• Rgs1 has a role in leukocyte trafficking and vascular inflammation (PMID:25782711)
• RGS1 suppresses CXCL12-mediated migration and AKT activation in cultured human plasmacytoma cells and plasmablasts. (PMID:25897806)
• RGS1 as a potential marker of CRC tissue quality (PMID:26222051)
• Regulator of G-protein signaling 1 rs2816316 was negatively associated with celiac disease . (PMID:27043536)
• RGS1 expression may be a prognostic marker for risk stratification and a promising target for the development of a new multiple myeloma therapy. (PMID:27445341)
• High RGS1 immunohistochemistry expression associates with poor overall survival in diffuse large B cell lymphoma (PMID:27775850)
• The rs12022418 in RGS1 showed novel associations in IgA nephropathy. (PMID:27804980)
• Results showed that RGS1 expression was significantly higher in melanoma than that noted in nevus tissue and correlated with reduced diseasespecific survival. Also, RGS1 expression was also found to be related to the proliferation and migration of melanoma cells through regulation of Galphasmediated inactivation of AKT and ERK. (PMID:29620236)
• Results provide evidence that RGS1 is a target of miR29C that is regulated by TUG1. (PMID:30720136)
• Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes. (PMID:32196808)
• Targeting regulator of G protein signaling 1 in tumor-specific T cells enhances their trafficking to breast cancer. (PMID:34140678)
• Single-Cell Transcriptome Analysis Reveals RGS1 as a New Marker and Promoting Factor for T-Cell Exhaustion in Multiple Cancers. (PMID:34956194)
• RGS1 and related genes as potential targets for immunotherapy in cervical cancer: computational biology and experimental validation. (PMID:35879796)
• Identification of DNA methylation-regulated differentially expressed genes in RA by integrated analysis of DNA methylation and RNA-Seq data. (PMID:36273177)
• ScRNA-seq revealed targeting regulator of G protein signaling 1 to mediate regulatory T cells in Hepatocellular carcinoma. (PMID:36938729)
• ATF3 Modulates the Proliferation, Migration, and Apoptosis of Synovial Fibroblasts after Arthroscopy by Promoting RGS1 Transcription. (PMID:37073154)
• Regulator of G protein signaling-1 regulates immune infiltration and macrophage polarization in clear cell renal cell carcinoma. (PMID:37735297)
• RGS1 Modulates Autophagic and Metabolic Programs and Is a Critical Mediator of Human Regulatory T Cell Function. (PMID:37850953)
• Tumor-intrinsic RGS1 potentiates checkpoint blockade response via ATF3-IFNGR1 axis. (PMID:38264343)
• RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins. (PMID:39015025)
• RGS1 targeted by miR-191-3p inhibited the stemness properties of esophageal cancer cells by suppressing CXCR4/PI3K/AKT signaling. (PMID:39173233)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rgs1	ENSDARG00000089077
mus_musculus	Rgs1	ENSMUSG00000026358
rattus_norvegicus	Rgs1	ENSRNOG00000003895

Paralogs (23): RGS11 (ENSG00000076344), RGS17 (ENSG00000091844), AXIN1 (ENSG00000103126), RGS9 (ENSG00000108370), RGS2 (ENSG00000116741), RGS4 (ENSG00000117152), RGSL1 (ENSG00000121446), RGS13 (ENSG00000127074), RGS22 (ENSG00000132554), RGS8 (ENSG00000135824), RGS3 (ENSG00000138835), RGS5 (ENSG00000143248), RGS16 (ENSG00000143333), RGS20 (ENSG00000147509), RGS10 (ENSG00000148908), RGS18 (ENSG00000150681), RGS12 (ENSG00000159788), AXIN2 (ENSG00000168646), RGS14 (ENSG00000169220), RGS19 (ENSG00000171700), RGS6 (ENSG00000182732), RGS7 (ENSG00000182901), RGS21 (ENSG00000253148)

Protein

Protein identifiers

Regulator of G-protein signaling 1 — Q08116 (reviewed: Q08116)

Alternative names: B-cell activation protein BL34, Early response protein 1R20

All UniProt accessions (1): Q08116

UniProt curated annotations — full annotation on UniProt →

Function. Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors. Inhibits B cell chemotaxis toward CXCL12. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form.

Subunit / interactions. Interacts with GNAI1 and GNAQ.

Subcellular location. Cell membrane. Cytoplasm. Cytosol.

Tissue specificity. Detected in peripheral blood monocytes. Expression is relatively low in B-cells and chronic lymphocytic leukemia B-cells; however, in other types of malignant B-cell such as non-Hodgkin lymphoma and hairy cell leukemia, expression is constitutively high.

Induction. In response to several B-cell activation signals.

Isoforms (2)

UniProt ID	Names	Canonical?
Q08116-1	1	yes
Q08116-2	2

RefSeq proteins (1): NP_002913* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016137	RGS	Domain
IPR024066	RGS_subdom1/3	Homologous_superfamily
IPR036305	RGS_sf	Homologous_superfamily
IPR044926	RGS_subdomain_2	Homologous_superfamily

Pfam: PF00615

UniProt features (18 total): helix 10, turn 2, sequence conflict 2, chain 1, domain 1, splice variant 1, strand 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2BV1	X-RAY DIFFRACTION	2
2GTP	X-RAY DIFFRACTION	2.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08116-F1	82.42	0.62

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-416476	G alpha (q) signalling events
R-HSA-418594	G alpha (i) signalling events

MSigDB gene sets: 444 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, VERHAAK_AML_WITH_NPM1_MUTATED_DN, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, WALLACE_PROSTATE_CANCER_RACE_UP, MODULE_169, GOBP_REGULATION_OF_GTPASE_ACTIVITY, RACCACAR_AML_Q6, MODULE_66, MODULE_118, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, PID_CXCR4_PATHWAY, WATANABE_COLON_CANCER_MSI_VS_MSS_UP

GO Biological Process (8): immune response (GO:0006955), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), response to bacterium (GO:0009617), negative regulation of signal transduction (GO:0009968), positive regulation of GTPase activity (GO:0043547), leukotriene signaling pathway (GO:0061737)

GO Molecular Function (4): G-protein alpha-subunit binding (GO:0001965), GTPase activity (GO:0003924), GTPase activator activity (GO:0005096), calmodulin binding (GO:0005516)

GO Cellular Component (5): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasmic side of plasma membrane (GO:0009898), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
GPCR downstream signalling	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
signal transduction	2
GTPase activity	2
protein binding	2
immune system process	1
response to stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase inhibitor activity	1
response to other organism	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
regulation of GTPase activity	1
positive regulation of hydrolase activity	1
G protein-coupled receptor signaling pathway	1
ribonucleoside triphosphate phosphatase activity	1
enzyme activator activity	1
GTPase regulator activity	1
cytoplasm	1
membrane	1
cell periphery	1
plasma membrane	1
cytoplasmic side of membrane	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2246 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RGS1	GNB5	O14775	872
RGS1	GNAQ	P50148	863
RGS1	SUCLG2	Q96I99	822
RGS1	GNA13	Q14344	794
RGS1	ARHGEF1	Q92888	727
RGS1	ARHGEF11	O15085	727
RGS1	TAGAP	Q8N103	726
RGS1	GRK2	P25098	715
RGS1	GNA12	Q03113	710
RGS1	RGS7BP	Q6MZT1	679
RGS1	RGSL1	A5PLK6	675
RGS1	PLEK	P08567	629
RGS1	BLTP1	Q2LD37	618
RGS1	MCF2	P10911	618
RGS1	SUCLG1	P53597	599

IntAct

9 interactions, top by confidence:

A	B	Type	Score
Gnao1	RGS1	psi-mi:“MI:0407”(direct interaction)	0.440
LRRK2	RGS1	psi-mi:“MI:0407”(direct interaction)	0.440
RGS1	ACACB	psi-mi:“MI:0915”(physical association)	0.400
RGS1	FUNDC2	psi-mi:“MI:0915”(physical association)	0.000
RGS1	TSC22D1	psi-mi:“MI:0915”(physical association)	0.000
RGS1	MAP3K12	psi-mi:“MI:0915”(physical association)	0.000
RGS1	UTP14A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): ACACB (Affinity Capture-MS), RGS1 (Biochemical Activity), MAP3K12 (Two-hybrid), UTP14A (Two-hybrid), FUNDC2 (Two-hybrid), TSC22D1 (Two-hybrid), ACACB (Affinity Capture-MS), RGS1 (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A1A643, O08849, O08850, O14921, O15539, O35119, O43665, O46470, O54829, P34295, P41220, P49758, P49800, P49802, P49803, P49806, P49808, P49809, P79100, P97844, Q08116, Q09777, Q0P5H5, Q10955, Q2KHW7, Q2M5E4, Q3S853, Q3T0T8, Q4L0E8, Q5M8L6, Q62240, Q6DGI0, Q6RG78, Q864Z2, Q8K443, Q8VYB9, Q99PG4, Q9CQE5, Q9FLY5, Q9JHX0

Diamond homologs: A1A643, F1S668, O08773, O08774, O08849, O08850, O08899, O14921, O14924, O15169, O15492, O15539, O35625, O42400, O43566, O43665, O46469, O46470, O46471, O54828, O54829, O70239, O70240, O70521, O75916, O76081, O88566, O94810, P34295, P41220, P49758, P49795, P49796, P49797, P49798, P49799, P49800, P49802, P49803, P49804

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

292 predictions. Top by Δscore:

Variant	Effect	Δscore
1:192575915:G:GT	donor_gain	1.0000
1:192575926:CTTT:C	donor_gain	1.0000
1:192575930:G:GG	donor_gain	1.0000
1:192576283:AGTG:A	acceptor_gain	1.0000
1:192576284:GTGG:G	acceptor_gain	1.0000
1:192576361:G:GT	donor_gain	1.0000
1:192576361:GATGT:G	donor_gain	1.0000
1:192576362:ATGT:A	donor_gain	1.0000
1:192576364:GT:G	donor_gain	1.0000
1:192576366:G:GG	donor_gain	1.0000
1:192576367:T:G	donor_loss	1.0000
1:192576370:G:GG	donor_gain	1.0000
1:192576762:T:TA	acceptor_gain	1.0000
1:192576769:T:TA	acceptor_gain	1.0000
1:192576769:TGCA:T	acceptor_loss	1.0000
1:192576771:CAGAC:C	acceptor_loss	1.0000
1:192576772:A:AG	acceptor_gain	1.0000
1:192576772:AGACT:A	acceptor_loss	1.0000
1:192576773:G:GT	acceptor_gain	1.0000
1:192576773:GA:G	acceptor_gain	1.0000
1:192576773:GAC:G	acceptor_gain	1.0000
1:192576773:GACT:G	acceptor_gain	1.0000
1:192576773:GACTT:G	acceptor_gain	1.0000
1:192576831:CCAAA:C	donor_gain	1.0000
1:192576832:CAAA:C	donor_gain	1.0000
1:192576833:AAA:A	donor_gain	1.0000
1:192576834:AA:A	donor_gain	1.0000
1:192576835:AG:A	donor_loss	1.0000
1:192576836:G:GG	donor_gain	1.0000
1:192576836:GT:G	donor_loss	1.0000

AlphaMissense

1392 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:192576799:T:A	W82R	0.998
1:192576799:T:C	W82R	0.998
1:192578245:T:C	F102L	0.998
1:192578247:C:A	F102L	0.998
1:192578247:C:G	F102L	0.998
1:192578281:T:C	F114L	0.998
1:192578282:T:C	F114S	0.998
1:192578283:C:A	F114L	0.998
1:192578283:C:G	F114L	0.998
1:192579260:T:C	F190L	0.998
1:192579261:T:C	F190S	0.998
1:192579262:C:A	F190L	0.998
1:192579262:C:G	F190L	0.998
1:192578260:T:C	F107L	0.997
1:192578262:C:A	F107L	0.997
1:192578262:C:G	F107L	0.997
1:192578359:T:C	F140L	0.997
1:192578361:T:A	F140L	0.997
1:192578361:T:G	F140L	0.997
1:192579251:T:G	Y187D	0.997
1:192579258:G:T	R189M	0.997
1:192578249:T:C	L103P	0.996
1:192579159:G:C	R156P	0.996
1:192578263:A:C	S108R	0.995
1:192578265:T:A	S108R	0.995
1:192578265:T:G	S108R	0.995
1:192579234:T:C	L181P	0.995
1:192579258:G:C	R189T	0.995
1:192579269:T:C	S193P	0.995
1:192578274:T:A	N111K	0.994

dbSNP variants (sampled 300 via entrez): RS1001387889 (1:192576983 G>A,T), RS1002090470 (1:192576952 T>C), RS1002156812 (1:192575426 C>A,T), RS1002450473 (1:192576008 A>G), RS1004118617 (1:192576564 T>C), RS1006662291 (1:192575117 C>A), RS1007445662 (1:192579894 A>G), RS1008092343 (1:192574606 G>A,C,T), RS1008353644 (1:192575775 A>C,G,T), RS1009132337 (1:192578659 C>A), RS1009547203 (1:192576539 C>A,T), RS1009883728 (1:192574708 C>A), RS1009913023 (1:192575110 T>C), RS1010255914 (1:192580381 A>T), RS1010699707 (1:192579547 C>T)

Disease associations

OMIM: gene MIM:600323 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000157_1	Celiac disease	3.000000e-11
GCST000612_11	Celiac disease	2.000000e-17
GCST001198_55	Multiple sclerosis	2.000000e-08
GCST003566_9	Multiple sclerosis	2.000000e-15
GCST005523_5	Celiac disease	3.000000e-25
GCST005531_103	Multiple sclerosis	5.000000e-20
GCST005752_121	Systemic lupus erythematosus	2.000000e-06
GCST009874_3	Celiac disease	4.000000e-30
GCST011096_20	Systemic lupus erythematosus	2.000000e-07
GCST012636_2	Systemic vasculitis	4.000000e-06
GCST90011866_8	Systemic lupus erythematosus	5.000000e-08
GCST90013445_17	Type 1 diabetes	5.000000e-09
GCST90013445_31	Type 1 diabetes	5.000000e-09

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 — R4 family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects expression, decreases expression, decreases response to substance	3
Nickel	increases expression	3
nickel sulfate	increases expression	2
(+)-JQ1 compound	decreases expression	2
Eugenol	increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
captax	increases expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
4-phenylenediamine	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
beta-hydroxy simvastatin acid	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Irinotecan	increases expression	1
Pioglitazone	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants, Occupational	increases expression	1
Benzene	decreases expression	1
Benzo(a)pyrene	increases expression	1
Calcitriol	decreases expression	1
Catechin	affects cotreatment, decreases expression	1
Cytarabine	decreases expression	1
Demecolcine	increases expression	1
Dinitrochlorobenzene	increases expression	1
Diuron	decreases expression	1

Clinical trials (associated diseases)

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