GNG7

Summary

GNG7 (G protein subunit gamma 7, HGNC:4410) is a protein-coding gene on chromosome 19p13.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 (O60262). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.

Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway and regulation of adenylate cyclase activity. Predicted to act upstream of or within behavioral fear response; locomotory behavior; and receptor guanylyl cyclase signaling pathway. Located in extracellular exosome.

Source: NCBI Gene 2788 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 16 total
• MANE Select transcript: NM_052847

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4410
Approved symbol	GNG7
Name	G protein subunit gamma 7
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ00058
Ensembl gene	ENSG00000176533
Ensembl biotype	protein_coding
OMIM	604430
Entrez	2788

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 nonsense_mediated_decay

ENST00000382159, ENST00000587867, ENST00000865485, ENST00000865486, ENST00000865487, ENST00000865488, ENST00000865489, ENST00000865490, ENST00000865491, ENST00000865492, ENST00000931410, ENST00000931411, ENST00000941170, ENST00000941171, ENST00000941172, ENST00000941173

RefSeq mRNA: 1 — MANE Select: NM_052847 NM_052847

CCDS: CCDS12091

Canonical transcript exons

ENST00000382159 — 5 exons

Exon	Start	End
ENSE00001491076	2511219	2515147
ENSE00002333574	2646224	2646280
ENSE00002370155	2520608	2520725
ENSE00002424238	2555149	2555188
ENSE00002426878	2702646	2702694

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 99.10.

FANTOM5 (CAGE): breadth broad, TPM avg 11.3090 / max 647.5206, expressed in 886 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178194	9.5689	748
178196	0.9499	370
178197	0.3377	166
178195	0.2987	114
178193	0.1082	24
178176	0.0456	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nucleus accumbens	UBERON:0001882	99.10	gold quality
caudate nucleus	UBERON:0001873	98.96	gold quality
putamen	UBERON:0001874	98.73	gold quality
inferior vagus X ganglion	UBERON:0005363	98.25	gold quality
lateral globus pallidus	UBERON:0002476	97.78	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.52	gold quality
ventral tegmental area	UBERON:0002691	97.38	gold quality
subthalamic nucleus	UBERON:0001906	97.35	gold quality
spinal cord	UBERON:0002240	96.99	gold quality
superior vestibular nucleus	UBERON:0007227	96.39	gold quality
amygdala	UBERON:0001876	95.57	gold quality
medulla oblongata	UBERON:0001896	95.52	gold quality
right frontal lobe	UBERON:0002810	95.33	gold quality
globus pallidus	UBERON:0001875	94.77	gold quality
parietal lobe	UBERON:0001872	94.72	gold quality
Ammon’s horn	UBERON:0001954	94.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.59	gold quality
temporal lobe	UBERON:0001871	94.56	gold quality
dorsal plus ventral thalamus	UBERON:0001897	94.52	gold quality
midbrain	UBERON:0001891	94.46	gold quality
postcentral gyrus	UBERON:0002581	94.46	gold quality
pons	UBERON:0000988	94.28	gold quality
substantia nigra	UBERON:0002038	94.17	gold quality
cingulate cortex	UBERON:0003027	94.15	gold quality
anterior cingulate cortex	UBERON:0009835	94.15	gold quality
telencephalon	UBERON:0001893	94.12	gold quality
medial globus pallidus	UBERON:0002477	94.02	gold quality
parotid gland	UBERON:0001831	93.96	gold quality
entorhinal cortex	UBERON:0002728	93.71	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.54	gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	98.20
E-HCAD-4	yes	52.44
E-MTAB-7052	yes	48.13
E-MTAB-8410	yes	44.42
E-CURD-46	yes	40.12
E-HCAD-11	yes	24.84
E-ANND-3	yes	23.81
E-MTAB-9467	yes	22.40
E-MTAB-8142	yes	19.84
E-HCAD-10	yes	17.20
E-MTAB-10553	yes	14.17
E-MTAB-6701	yes	13.45
E-MTAB-9067	yes	13.29
E-MTAB-6678	yes	6.23
E-CURD-122	yes	4.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

120 targeting GNG7, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-4728-5P	99.85	69.39	4718

Literature-anchored findings (GeneRIF, showing 11)

• GNG7 suppression represents a new prognostic indicator in cases of oesophageal cancer. (PMID:18219292)
• Reduced expression of G-gamma 7 is associated with the histological grade of EHCC and may prove to be a useful marker for predicting the prognosis of human EHCC. (PMID:20543539)
• Loss of GNG7 protein expression is a frequent event in head and neck cancer with hypermethylation of the promoter region of GNG7 being probably the mechanism for the observed inactivation. (PMID:22183866)
• GNG7 is a highly specific promoter methylated gene associated with head and neck cancer. (PMID:23403885)
• GNG7 is a tumor suppressor gene in Clear cell renal cell carcinoma progression. (PMID:30945310)
• Elevated MicroRNA 183 Impairs Trophoblast Migration and Invasiveness by Downregulating FOXP1 Expression and Elevating GNG7 Expression during Preeclampsia. (PMID:33139493)
• G protein gamma 7 suppresses progression of lung adenocarcinoma by inhibiting E2F transcription factor 1. (PMID:33864871)
• MicroRNA miR-19b-3p mediated G protein gamma subunit 7 (GNG7) loss contributes lung adenocarcinoma progression through activating Hedgehog signaling. (PMID:34635014)
• GNG7 and ADCY1 as diagnostic and prognostic biomarkers for pancreatic adenocarcinoma through bioinformatic-based analyses. (PMID:34650124)
• Long non-coding RNA LINC00472 inhibits oral squamous cell carcinoma via miR-4311/GNG7 axis. (PMID:35240924)
• Identification of GNG7 as a novel biomarker and potential therapeutic target for gastric cancer via bioinformatic analysis and in vitro experiments. (PMID:36863706)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gng7	ENSDARG00000038693
mus_musculus	Gng7	ENSMUSG00000048240
rattus_norvegicus	Gng7	ENSRNOG00000019857

Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG12 (ENSG00000172380), GNG5 (ENSG00000174021), GNG2 (ENSG00000186469), GNG10 (ENSG00000242616)

Protein

Protein identifiers

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 — O60262 (reviewed: O60262)

All UniProt accessions (2): O60262, K7ESC6

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilization of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in the striatum.

Subunit / interactions. G proteins are composed of 3 units, alpha, beta and gamma.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in a variety of tissues. Down-regulated in pancreatic and esophageal cancer.

Similarity. Belongs to the G protein gamma family.

RefSeq proteins (1): NP_443079* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001770	G-protein_gamma	Family
IPR015898	G-protein_gamma-like_dom	Domain
IPR036284	GGL_sf	Homologous_superfamily

Pfam: PF00631

UniProt features (6 total): modified residue 2, initiator methionine 1, chain 1, propeptide 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60262-F1	91.03	0.70

Functional residue map

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

Post-translational modifications (3): 2, 65, 65

Function

Pathways and Gene Ontology

Reactome pathways

29 pathways

ID	Pathway
R-HSA-1296041	Activation of G protein gated Potassium channels
R-HSA-163359	Glucagon signaling in metabolic regulation
R-HSA-202040	G-protein activation
R-HSA-381676	Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-392170	ADP signalling through P2Y purinoceptor 12
R-HSA-392451	G beta:gamma signalling through PI3Kgamma
R-HSA-392851	Prostacyclin signalling through prostacyclin receptor
R-HSA-400042	Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398	Ca2+ pathway
R-HSA-416476	G alpha (q) signalling events
R-HSA-416482	G alpha (12/13) signalling events
R-HSA-418217	G beta:gamma signalling through PLC beta
R-HSA-418555	G alpha (s) signalling events
R-HSA-418592	ADP signalling through P2Y purinoceptor 1
R-HSA-418594	G alpha (i) signalling events
R-HSA-418597	G alpha (z) signalling events
R-HSA-420092	Glucagon-type ligand receptors
R-HSA-428930	Thromboxane signalling through TP receptor
R-HSA-432040	Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926	Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657	Presynaptic function of Kainate receptors
R-HSA-6814122	Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-8964315	G beta:gamma signalling through BTK
R-HSA-8964616	G beta:gamma signalling through CDC42
R-HSA-9009391	Extra-nuclear estrogen signaling
R-HSA-9634597	GPER1 signaling
R-HSA-9660821	ADORA2B mediated anti-inflammatory cytokines production
R-HSA-9856530	High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
R-HSA-997272	Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

MSigDB gene sets: 226 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, GOBP_BEHAVIOR, REACTOME_ADRENALINE_NORADRENALINE_INHIBITS_INSULIN_SECRETION, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, MODULE_66, MODULE_118, MODULE_379, GOBP_FEAR_RESPONSE

GO Biological Process (6): behavioral fear response (GO:0001662), receptor guanylyl cyclase signaling pathway (GO:0007168), G protein-coupled receptor signaling pathway (GO:0007186), locomotory behavior (GO:0007626), regulation of G protein-coupled receptor signaling pathway (GO:0008277), signal transduction (GO:0007165)

GO Molecular Function (2): G-protein beta-subunit binding (GO:0031681), protein binding (GO:0005515)

GO Cellular Component (5): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), synapse (GO:0045202), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
GPCR downstream signalling	5
Signal amplification	3
Regulation of insulin secretion	2
G-protein beta:gamma signalling	2
G protein gated Potassium channels	1
Integration of energy metabolism	1
Opioid Signalling	1
Platelet homeostasis	1
Beta-catenin independent WNT signaling	1
Class B/2 (Secretin family receptors)	1
Aquaporin-mediated transport	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
behavioral defense response	1
fear response	1
enzyme-linked receptor protein signaling pathway	1
G protein-coupled receptor activity	1
signal transduction	1
behavior	1
G protein-coupled receptor signaling pathway	1
regulation of signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
protein binding	1
binding	1
extrinsic component of cytoplasmic side of plasma membrane	1
plasma membrane protein complex	1
GTPase complex	1
membrane	1
cell periphery	1
cell junction	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2376 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNG7	GNB2	P11016	706
GNG7	GNB5	O14775	640
GNG7	GNB4	Q9HAV0	629
GNG7	GNB1	P04697	629
GNG7	GNB3	P16520	614
GNG7	GNAI1	P04898	585
GNG7	ADCY7	P51828	495
GNG7	GNG13	Q9P2W3	477
GNG7	LPAR1	P78351	473
GNG7	ADCY9	O60503	468
GNG7	GPSM1	Q86YR5	468
GNG7	ADCY1	Q08828	467
GNG7	ADCYAP1R1	P41586	467
GNG7	GNGT1	P63211	461
GNG7	GABBR2	O75899	460

IntAct

43 interactions, top by confidence:

A	B	Type	Score
GNG7	GNB1	psi-mi:“MI:0914”(association)	0.640
GNG7	GNAI1	psi-mi:“MI:0914”(association)	0.640
GNAI3	RGS12	psi-mi:“MI:0914”(association)	0.640
GNB1	GNG7	psi-mi:“MI:0914”(association)	0.640
GNG7	GNB5	psi-mi:“MI:0914”(association)	0.600
GNB5	GNG7	psi-mi:“MI:0915”(physical association)	0.600
GNG7	GORASP2	psi-mi:“MI:0915”(physical association)	0.600
GORASP2	GNG7	psi-mi:“MI:0915”(physical association)	0.600
GNG7	GNB5	psi-mi:“MI:2364”(proximity)	0.600
GNAI1	GNAT3	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
GNG7	GNB2	psi-mi:“MI:0914”(association)	0.350
GNG7	GNB3	psi-mi:“MI:0914”(association)	0.350
GNG7	GNAS	psi-mi:“MI:0914”(association)	0.350
GNG7	Ntsr1	psi-mi:“MI:0914”(association)	0.350
NUFIP1	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.350
GNAI2	GNG7	psi-mi:“MI:0914”(association)	0.350
GNB1	TP53I11	psi-mi:“MI:0914”(association)	0.350

BioGRID (43): GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNB5 (Co-localization), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNG7 (Affinity Capture-MS), GNB1 (PCA), GNG7 (Affinity Capture-MS), GNG7 (Two-hybrid), GNG7 (Two-hybrid)

ESM2 similar proteins: A0A804HLA8, O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q6CPB4

Diamond homologs: A0A1W2PPG7, O60262, P30671, P43425, P50150, P50153, P59768, P63212, P63213, P63214, P63215, P63216, Q28024, Q5R639, Q5R7U4, Q5RBQ0, Q61016, Q9DAS9, Q9UBI6, A0A804HLA8, P38040, P50151, P63077, P63078, P63217, P63218, P63219, Q4VT26, Q5REH7, Q80SZ7, Q9CXP8, Q9UK08, O14610, O97564, P02698, P50154, P54406, P61952, P61953, P61954

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
ADP signalling through P2Y purinoceptor 12	8	248.3×	3e-17
Prostacyclin signalling through prostacyclin receptor	5	187.8×	2e-10
Adrenaline,noradrenaline inhibits insulin secretion	6	147.7×	1e-11
ADORA2B mediated anti-inflammatory cytokines production	9	142.8×	3e-17
GPER1 signaling	9	139.7×	3e-17
G alpha (z) signalling events	9	131.1×	4e-17
Glucagon-type ligand receptors	5	108.1×	4e-09
Extra-nuclear estrogen signaling	8	85.2×	2e-13

GO biological processes:

GO term	Partners	Fold	FDR
G protein-coupled receptor signaling pathway	8	14.5×	5e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2627 predictions. Top by Δscore:

Variant	Effect	Δscore
19:2520721:GAGAG:G	acceptor_gain	1.0000
19:2520723:GAG:G	acceptor_gain	1.0000
19:2520725:GC:G	acceptor_loss	1.0000
19:2520726:C:CC	acceptor_gain	1.0000
19:2520726:CT:C	acceptor_loss	1.0000
19:2520727:T:A	acceptor_loss	1.0000
19:2555146:TACCT:T	donor_loss	1.0000
19:2555147:ACCTT:A	donor_loss	1.0000
19:2602451:C:CA	donor_gain	1.0000
19:2646798:A:C	donor_gain	1.0000
19:2515047:T:TA	donor_gain	0.9900
19:2520602:GCTCA:G	donor_loss	0.9900
19:2520603:CTCAC:C	donor_loss	0.9900
19:2520604:TCAC:T	donor_loss	0.9900
19:2520605:CAC:C	donor_loss	0.9900
19:2520607:C:CT	donor_loss	0.9900
19:2520722:AGAG:A	acceptor_gain	0.9900
19:2520724:AG:A	acceptor_gain	0.9900
19:2520728:G:C	acceptor_gain	0.9900
19:2540764:AGCT:A	donor_gain	0.9900
19:2555185:CACC:C	acceptor_gain	0.9900
19:2555187:CC:C	acceptor_gain	0.9900
19:2555187:CCCTG:C	acceptor_loss	0.9900
19:2555188:CCTGT:C	acceptor_gain	0.9900
19:2555190:T:C	acceptor_loss	0.9900
19:2555193:T:C	acceptor_gain	0.9900
19:2609661:A:T	acceptor_gain	0.9900
19:2646277:CTCC:C	acceptor_gain	0.9900
19:2702640:CCTTA:C	donor_loss	0.9900
19:2702641:CTTA:C	donor_loss	0.9900

AlphaMissense

436 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:2520616:G:T	R25S	0.999
19:2515052:A:C	F59L	0.998
19:2515052:A:T	F59L	0.998
19:2515054:A:G	F59L	0.998
19:2515125:A:G	L35P	0.998
19:2520639:A:G	L17P	0.998
19:2515054:A:T	F59I	0.997
19:2515058:G:C	N57K	0.997
19:2515058:G:T	N57K	0.997
19:2520628:C:G	A21P	0.997
19:2520636:C:G	R18P	0.997
19:2515053:A:G	F59S	0.996
19:2515049:C:A	K60N	0.995
19:2515049:C:G	K60N	0.995
19:2515092:T:A	D46V	0.995
19:2515036:A:G	C65R	0.994
19:2515054:A:C	F59V	0.994
19:2515086:A:G	L48P	0.994
19:2515092:T:C	D46G	0.994
19:2515092:T:G	D46A	0.994
19:2515112:A:C	C39W	0.994
19:2520657:C:G	R11P	0.994
19:2515086:A:T	L48Q	0.993
19:2515138:C:G	A31P	0.993
19:2520642:T:G	Q16P	0.993
19:2520661:C:G	A10P	0.993
19:2515114:A:G	C39R	0.992
19:2515091:G:C	D46E	0.991
19:2515091:G:T	D46E	0.991
19:2515093:C:G	D46H	0.991

dbSNP variants (sampled 300 via entrez): RS1000003222 (19:2543541 A>G), RS1000005774 (19:2512071 G>A), RS1000008173 (19:2656732 C>G), RS1000009413 (19:2664230 G>A), RS1000033098 (19:2650925 T>C), RS1000043855 (19:2659041 C>G), RS1000045037 (19:2620631 C>T), RS1000081955 (19:2517635 G>A), RS1000094288 (19:2602218 T>C), RS1000111002 (19:2699767 A>G), RS1000119641 (19:2538941 T>G), RS1000142908 (19:2579392 C>T), RS1000162450 (19:2661965 C>G,T), RS1000163806 (19:2539166 G>A), RS1000171607 (19:2627552 T>C)

Disease associations

OMIM: gene MIM:604430 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST005173_59	Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes	4.000000e-06
GCST006979_738	Heel bone mineral density	3.000000e-23
GCST007576_274	Chronotype	3.000000e-09
GCST010242_183	HDL cholesterol levels	4.000000e-08
GCST010397_31	Gut microbiota (bacterial taxa, rank normal transformation method)	2.000000e-06
GCST010653_2	Thyroid stimulating hormone levels	9.000000e-11
GCST90002398_99	Neutrophil count	4.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0009270	heel bone mineral density
EFO:0008328	chronotype measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007874	gut microbiome measurement
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases methylation	6
Aflatoxin B1	affects methylation, decreases expression	4
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression	3
Valproic Acid	affects expression, increases expression	3
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
terbufos	increases methylation	1
trichostatin A	affects expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
butyraldehyde	increases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	affects methylation	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
gardiquimod	decreases expression, decreases reaction	1
Decitabine	affects expression	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Azacitidine	affects methylation	1
Cadmium	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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