GNG12

Summary

GNG12 (G protein subunit gamma 12, HGNC:19663) is a protein-coding gene on chromosome 1p31.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 (Q9UBI6). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.

Enables PDZ domain binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Located in extracellular exosome.

Source: NCBI Gene 55970 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_018841

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19663
Approved symbol	GNG12
Name	G protein subunit gamma 12
Location	1p31.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172380
Ensembl biotype	protein_coding
OMIM	615405
Entrez	55970

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 34 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000370982, ENST00000494936, ENST00000857639, ENST00000857640, ENST00000857641, ENST00000857642, ENST00000857643, ENST00000857644, ENST00000857645, ENST00000857646, ENST00000857647, ENST00000857648, ENST00000857649, ENST00000857650, ENST00000857651, ENST00000857652, ENST00000857653, ENST00000857654, ENST00000857655, ENST00000857656, ENST00000857657, ENST00000857658, ENST00000857659, ENST00000857660, ENST00000857661, ENST00000857662, ENST00000857663, ENST00000857664, ENST00000918432, ENST00000948511, ENST00000948512, ENST00000948513, ENST00000948514, ENST00000948515, ENST00000948516

RefSeq mRNA: 1 — MANE Select: NM_018841 NM_018841

CCDS: CCDS30749

Canonical transcript exons

ENST00000370982 — 4 exons

Exon	Start	End
ENSE00001175064	67777458	67777507
ENSE00001454049	67701475	67705576
ENSE00001454051	67707594	67707712
ENSE00001454052	67833344	67833467

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.2533 / max 339.2180, expressed in 1572 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12760	29.9700	1517
12761	13.0678	1507
12764	0.4310	235
12763	0.4045	217
12762	0.3800	210

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.00	gold quality
upper leg skin	UBERON:0004262	98.68	gold quality
nipple	UBERON:0002030	98.64	gold quality
secondary oocyte	CL:0000655	98.61	gold quality
blood vessel layer	UBERON:0004797	98.51	gold quality
duodenum	UBERON:0002114	98.41	gold quality
skin of hip	UBERON:0001554	98.03	gold quality
penis	UBERON:0000989	97.86	gold quality
saphenous vein	UBERON:0007318	97.83	gold quality
synovial joint	UBERON:0002217	97.64	gold quality
mammalian vulva	UBERON:0000997	97.60	gold quality
smooth muscle tissue	UBERON:0001135	97.57	gold quality
urethra	UBERON:0000057	97.55	gold quality
parietal pleura	UBERON:0002400	97.30	gold quality
cauda epididymis	UBERON:0004360	97.25	gold quality
cartilage tissue	UBERON:0002418	97.10	gold quality
descending thoracic aorta	UBERON:0002345	96.94	gold quality
rectum	UBERON:0001052	96.81	gold quality
gall bladder	UBERON:0002110	96.79	gold quality
adrenal tissue	UBERON:0018303	96.72	gold quality
popliteal artery	UBERON:0002250	96.66	gold quality
tibial artery	UBERON:0007610	96.66	gold quality
seminal vesicle	UBERON:0000998	96.64	gold quality
pleura	UBERON:0000977	96.63	gold quality
aorta	UBERON:0000947	96.58	gold quality
islet of Langerhans	UBERON:0000006	96.51	gold quality
thoracic aorta	UBERON:0001515	96.45	gold quality
caput epididymis	UBERON:0004358	96.45	gold quality
ascending aorta	UBERON:0001496	96.39	gold quality
superficial temporal artery	UBERON:0001614	96.38	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	30.38
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

227 targeting GNG12, 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-5011-5P	100.00	83.46	5820
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-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 3)

• Results showed some evidence of differentially methylated cg25189904 in GNG12 gene mediating the effect of exposure to maternal smoking on schizophrenia-related outcomes. (PMID:31262328)
• GNG12 regulates PD-L1 expression by activating NF-kappaB signaling in pancreatic ductal adenocarcinoma. (PMID:31898405)
• Low GNG12 Expression Predicts Adverse Outcomes: A Potential Therapeutic Target for Osteosarcoma. (PMID:34691083)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gng12a	ENSDARG00000003375
danio_rerio	gng12b	ENSDARG00000098123
mus_musculus	Gng12	ENSMUSG00000036402
rattus_norvegicus	Gng12	ENSRNOG00000050231

Paralogs (11): GNG11 (ENSG00000127920), GNGT1 (ENSG00000127928), GNG5B (ENSG00000133136), GNG3 (ENSG00000162188), GNGT2 (ENSG00000167083), GNG8 (ENSG00000167414), GNG4 (ENSG00000168243), GNG5 (ENSG00000174021), GNG7 (ENSG00000176533), GNG2 (ENSG00000186469), GNG10 (ENSG00000242616)

Protein

Protein identifiers

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 — Q9UBI6 (reviewed: Q9UBI6)

All UniProt accessions (1): Q9UBI6

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.

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

Subcellular location. Cell membrane.

Similarity. Belongs to the G protein gamma family.

RefSeq proteins (1): NP_061329* (*=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 (10 total): modified residue 5, initiator methionine 1, chain 1, propeptide 1, lipid moiety-binding region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBI6-F1	89.68	0.67

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 (6): 2, 26, 42, 49, 69, 69

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: 331 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_BCELL_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, MODULE_52, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, 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, KEGG_MAPK_SIGNALING_PATHWAY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP

GO Biological Process (2): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186)

GO Molecular Function (3): PDZ domain binding (GO:0030165), 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
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
protein domain specific binding	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

1654 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNG12	GNB1	P04697	783
GNG12	GNG13	Q9P2W3	766
GNG12	GNB4	Q9HAV0	683
GNG12	GNAI1	P04898	569
GNG12	GNAI2	P04899	565
GNG12	ADCY9	O60503	503
GNG12	F2RL3	Q96RI0	475
GNG12	NNAT	Q16517	460
GNG12	GNB2	P11016	453
GNG12	GNG11	P50152	441
GNG12	PRKCE	Q02156	421
GNG12	HTR5A	P47898	419
GNG12	SFXN3	Q9BWM7	414
GNG12	GNG10	P50151	414
GNG12	MYO1G	B0I1T2	409

IntAct

96 interactions, top by confidence:

A	B	Type	Score
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
FHL2	GNG12	psi-mi:“MI:0915”(physical association)	0.830
GNG12	FHL2	psi-mi:“MI:0915”(physical association)	0.830
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
GNG12	GNB1	psi-mi:“MI:0914”(association)	0.640
GNAI3	RGS12	psi-mi:“MI:0914”(association)	0.640
HDAC7	GNG12	psi-mi:“MI:0915”(physical association)	0.560
TWF1	MYO1C	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
CAT	NUDT19	psi-mi:“MI:0914”(association)	0.420
Cbx1	FLOT1	psi-mi:“MI:0915”(physical association)	0.400
Poc1b		psi-mi:“MI:0915”(physical association)	0.400
Mau2	NIPBL	psi-mi:“MI:0915”(physical association)	0.400
Trim69		psi-mi:“MI:0915”(physical association)	0.400
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
SDC1	ILVBL	psi-mi:“MI:0915”(physical association)	0.400
BLK	EEF1E1	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Bmpr1a	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (138): GNG12 (Two-hybrid), GNG12 (Affinity Capture-MS), GNG12 (Co-fractionation), GNG12 (Co-fractionation), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-MS), GNG12 (Affinity Capture-RNA), GNG12 (Affinity Capture-MS)

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

9 interactions.

A	Effect	B	Mechanism
GNG12	up-regulates	AKT2	binding
GNG12	up-regulates	PIK3CA	binding
“prostaglandin E2”	up-regulates	GNG12	“chemical activation”
GNG12	up-regulates	PLCE1	binding
GNG12	down-regulates	PRKACA	binding
SMO	up-regulates	GNG12	binding
AGTR1	up-regulates	GNG12	binding
GNG12	up-regulates	PI3K	binding
PTGER3	up-regulates	GNG12	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 93 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
Prostacyclin signalling through prostacyclin receptor	6	53.0×	7e-08
ADP signalling through P2Y purinoceptor 12	7	51.1×	2e-08
Thromboxane signalling through TP receptor	7	49.0×	2e-08
G beta:gamma signalling through BTK	5	46.6×	2e-06
G-protein activation	6	42.0×	3e-07
G beta:gamma signalling through PLC beta	5	42.0×	3e-06
G beta:gamma signalling through CDC42	5	42.0×	3e-06
ADP signalling through P2Y purinoceptor 1	6	40.3×	3e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1019 predictions. Top by Δscore:

Variant	Effect	Δscore
1:67707588:TCTTA:T	donor_loss	1.0000
1:67707589:CTTAC:C	donor_loss	1.0000
1:67707590:TTA:T	donor_loss	1.0000
1:67707591:TACCT:T	donor_loss	1.0000
1:67707593:C:CT	donor_loss	1.0000
1:67707711:AT:A	acceptor_gain	1.0000
1:67765192:T:TA	donor_gain	1.0000
1:67777451:AACTT:A	donor_loss	1.0000
1:67777452:ACTT:A	donor_loss	1.0000
1:67777453:CTT:C	donor_loss	1.0000
1:67777454:TTA:T	donor_loss	1.0000
1:67777455:TACCA:T	donor_loss	1.0000
1:67777456:A:T	donor_loss	1.0000
1:67777457:C:CA	donor_loss	1.0000
1:67833342:ACCCG:A	donor_gain	1.0000
1:67833343:CCCG:C	donor_gain	1.0000
1:67833343:CCCGC:C	donor_gain	1.0000
1:67705574:AACC:A	acceptor_loss	0.9900
1:67705575:ACCTG:A	acceptor_loss	0.9900
1:67705577:C:A	acceptor_loss	0.9900
1:67705578:T:A	acceptor_loss	0.9900
1:67705582:A:C	acceptor_gain	0.9900
1:67705588:A:C	acceptor_gain	0.9900
1:67705594:C:CT	acceptor_gain	0.9900
1:67707592:A:AC	donor_gain	0.9900
1:67707593:C:CC	donor_gain	0.9900
1:67707708:GAAAT:G	acceptor_gain	0.9900
1:67707709:AAAT:A	acceptor_gain	0.9900
1:67707713:C:CC	acceptor_gain	0.9900
1:67777456:A:AC	donor_gain	0.9900

AlphaMissense

466 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:67707600:T:A	R29S	0.998
1:67707600:T:G	R29S	0.998
1:67705554:A:G	L39P	0.997
1:67705481:G:C	F63L	0.996
1:67705481:G:T	F63L	0.996
1:67705483:A:G	F63L	0.996
1:67707625:A:G	L21S	0.995
1:67705515:A:G	L52S	0.994
1:67707601:C:G	R29T	0.994
1:67705487:G:C	N61K	0.993
1:67705487:G:T	N61K	0.993
1:67705554:A:T	L39H	0.993
1:67707614:C:G	A25P	0.993
1:67705478:C:A	K64N	0.992
1:67705478:C:G	K64N	0.992
1:67705482:A:G	F63S	0.992
1:67705483:A:T	F63I	0.992
1:67707601:C:A	R29I	0.992
1:67705567:C:G	A35P	0.991
1:67705521:T:C	D50G	0.989
1:67705482:A:C	F63C	0.987
1:67705483:A:C	F63V	0.987
1:67705486:G:A	P62S	0.987
1:67707647:C:G	A14P	0.987
1:67705541:A:C	C43W	0.986
1:67705465:A:G	C69R	0.985
1:67705520:G:C	D50E	0.985
1:67705520:G:T	D50E	0.985
1:67705521:T:G	D50A	0.985
1:67705554:A:C	L39R	0.985

dbSNP variants (sampled 300 via entrez): RS1000026930 (1:67759739 T>C), RS1000072957 (1:67711568 GGAA>G), RS1000073412 (1:67704825 A>G), RS1000137761 (1:67800998 G>A), RS1000148103 (1:67782927 T>C), RS1000168005 (1:67823782 C>T), RS1000179698 (1:67742429 T>C), RS1000191945 (1:67800687 T>C), RS1000225956 (1:67716146 G>A), RS1000258996 (1:67817194 G>A), RS1000275914 (1:67758393 A>G), RS1000278267 (1:67737597 A>T), RS1000287665 (1:67765958 A>C), RS1000304794 (1:67770639 C>G,T), RS1000307644 (1:67765147 C>A)

Disease associations

OMIM: gene MIM:615405 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004602_11	Mean corpuscular volume	2.000000e-09
GCST004630_8	Mean corpuscular hemoglobin	3.000000e-10
GCST004862_208	Itch intensity from mosquito bite adjusted by bite size	4.000000e-06
GCST006107_6	Upper eyelid morphology	3.000000e-06
GCST006947_33	Feeling fed-up	9.000000e-10
GCST010653_54	Thyroid stimulating hormone levels	2.000000e-10
GCST90002390_6	Mean corpuscular hemoglobin	4.000000e-36
GCST90002392_170	Mean corpuscular volume	2.000000e-31
GCST90002396_135	Mean reticulocyte volume	7.000000e-10
GCST90002404_467	Red cell distribution width	3.000000e-16

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0009588	feeling “fed-up” measurement
EFO:0010701	mean reticulocyte volume
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	3
Tobacco Smoke Pollution	affects expression, decreases methylation, increases expression	3
Valproic Acid	increases expression	3
sodium arsenite	increases abundance, increases expression	2
Acetaminophen	decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
geldanamycin	increases expression	1
fenofibric acid	affects binding, increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
cobaltous chloride	decreases expression	1
manganese chloride	increases abundance, increases expression	1
benzo(e)pyrene	increases methylation	1
pentane	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
GW 7647	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
torcetrapib	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
asparanin A	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Chelating Agents	affects binding, increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects binding, increases expression	1
Cyclophosphamide	increases expression	1

Clinical trials (associated diseases)

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