GNAZ

Summary

GNAZ (G protein subunit alpha z, HGNC:4395) is a protein-coding gene on chromosome 22q11.22-q11.23, encoding Guanine nucleotide-binding protein G(z) subunit alpha (P19086). Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.

The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids.

Source: NCBI Gene 2781 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_002073

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4395
Approved symbol	GNAZ
Name	G protein subunit alpha z
Location	22q11.22-q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000128266
Ensembl biotype	protein_coding
OMIM	139160
Entrez	2781

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000479571, ENST00000492538, ENST00000615612, ENST00000956660, ENST00000956661, ENST00000956662, ENST00000956663

RefSeq mRNA: 1 — MANE Select: NM_002073 NM_002073

CCDS: CCDS13804

Canonical transcript exons

ENST00000615612 — 3 exons

Exon	Start	End
ENSE00003715424	23095247	23096418
ENSE00003723794	23123087	23125032
ENSE00003734391	23070519	23070570

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 96.19.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0106 / max 108.5483, expressed in 526 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191295	1.0514	271
191293	0.7662	329
191294	0.1930	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.19	gold quality
Brodmann (1909) area 10	UBERON:0013541	94.91	gold quality
frontal pole	UBERON:0002795	94.58	gold quality
paraflocculus	UBERON:0005351	93.81	gold quality
prefrontal cortex	UBERON:0000451	93.51	gold quality
middle temporal gyrus	UBERON:0002771	93.20	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.15	gold quality
middle frontal gyrus	UBERON:0002702	92.95	gold quality
right frontal lobe	UBERON:0002810	92.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.11	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.00	gold quality
anterior cingulate cortex	UBERON:0009835	91.91	gold quality
cingulate cortex	UBERON:0003027	91.90	gold quality
frontal cortex	UBERON:0001870	91.84	gold quality
neocortex	UBERON:0001950	91.83	gold quality
spinal cord	UBERON:0002240	91.73	gold quality
cerebral cortex	UBERON:0000956	91.32	gold quality
cerebellar vermis	UBERON:0004720	90.85	gold quality
cerebellar cortex	UBERON:0002129	90.72	gold quality
cerebellar hemisphere	UBERON:0002245	90.71	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.61	gold quality
Ammon’s horn	UBERON:0001954	90.49	gold quality
primary visual cortex	UBERON:0002436	90.44	gold quality
amygdala	UBERON:0001876	90.34	gold quality
cerebellum	UBERON:0002037	90.27	gold quality
ganglionic eminence	UBERON:0004023	90.22	gold quality
telencephalon	UBERON:0001893	90.21	gold quality
endothelial cell	CL:0000115	90.19	gold quality
central nervous system	UBERON:0001017	89.91	gold quality
forebrain	UBERON:0001890	89.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-109979	yes	123.30
E-ANND-3	yes	5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting GNAZ, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-325	99.58	66.55	358
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-542-3P	99.34	67.58	1270

Literature-anchored findings (GeneRIF, showing 4)

• findings suggest that Galphaz signals may attenuate Rho-induced stimulation of SRF-mediated transcription (PMID:15326221)
• GNAZ mutations are associated with melanoma. (PMID:20424519)
• Low GNAZ expression is associated with 22q11.2 deletion syndrome. (PMID:30627818)
• Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell cycle progression in hepatocellular carcinoma. (PMID:34530087)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	GNAZ	ENSDARG00000099844
mus_musculus	Gnaz	ENSMUSG00000040009
rattus_norvegicus	Gnaz	ENSRNOG00000001313
drosophila_melanogaster	Galphaf	FBGN0010223
drosophila_melanogaster	CG17760	FBGN0033756
drosophila_melanogaster	CG30054	FBGN0050054
caenorhabditis_elegans		WBGENE00001664
caenorhabditis_elegans		WBGENE00001665
caenorhabditis_elegans		WBGENE00001667
caenorhabditis_elegans		WBGENE00001668
caenorhabditis_elegans		WBGENE00001670
caenorhabditis_elegans		WBGENE00001671
caenorhabditis_elegans		WBGENE00001673
caenorhabditis_elegans		WBGENE00001675
caenorhabditis_elegans	gpa-14	WBGENE00001676
caenorhabditis_elegans	gsa-1	WBGENE00001745

Paralogs (15): GNA15 (ENSG00000060558), GNAI3 (ENSG00000065135), GNAO1 (ENSG00000087258), GNAS (ENSG00000087460), GNA11 (ENSG00000088256), GNAT1 (ENSG00000114349), GNAI2 (ENSG00000114353), GNA13 (ENSG00000120063), GNAI1 (ENSG00000127955), GNAT2 (ENSG00000134183), GNAL (ENSG00000141404), GNA12 (ENSG00000146535), GNA14 (ENSG00000156049), GNAQ (ENSG00000156052), GNAT3 (ENSG00000214415)

Protein

Protein identifiers

Guanine nucleotide-binding protein G(z) subunit alpha — P19086 (reviewed: P19086)

Alternative names: G(x) alpha chain, Gz-alpha

All UniProt accessions (1): P19086

UniProt curated annotations — full annotation on UniProt →

Function. Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems.

Subunit / interactions. G-proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with ADGRB2.

Subcellular location. Membrane.

Similarity. Belongs to the G-alpha family. G(i/o/t/z) subfamily.

RefSeq proteins (1): NP_002064* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001019	Gprotein_alpha_su	Family
IPR001408	Gprotein_alpha_I	Family
IPR011025	GproteinA_insert	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00503

UniProt features (40 total): strand 8, binding site 7, helix 7, region of interest 6, sequence conflict 3, lipid moiety-binding region 2, turn 2, initiator methionine 1, chain 1, modified residue 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
8DZS	ELECTRON MICROSCOPY	2.65
9WSW	ELECTRON MICROSCOPY	2.8
9MD1	ELECTRON MICROSCOPY	3.03

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19086-F1	93.58	0.84

Antibody-complex structures (SAbDab): 1 — 8DZS

Functional residue map

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

Ligand- & substrate-binding residues (7): 40–47; 47; 176–182; 182; 201–205; 270–273; 327

Post-translational modifications (3): 179, 2, 3

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-418555	G alpha (s) signalling events
R-HSA-418594	G alpha (i) signalling events
R-HSA-418597	G alpha (z) signalling events
R-HSA-9634597	GPER1 signaling
R-HSA-9660821	ADORA2B mediated anti-inflammatory cytokines production

MSigDB gene sets: 211 (showing top): PID_S1P_S1P1_PATHWAY, HNF3ALPHA_Q6, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, GOBP_INSULIN_SECRETION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEGATIVE_REGULATION_OF_PEPTIDE_SECRETION, GOBP_HORMONE_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, FOXD3_01, GOBP_CELL_CELL_SIGNALING, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_PROTEIN_SECRETION, PID_CXCR4_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, MODULE_205

GO Biological Process (6): G protein-coupled receptor signaling pathway (GO:0007186), adenylate cyclase-modulating G protein-coupled receptor signaling pathway (GO:0007188), adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (GO:0007193), negative regulation of insulin secretion (GO:0046676), G protein-coupled serotonin receptor signaling pathway (GO:0098664), signal transduction (GO:0007165)

GO Molecular Function (10): G protein-coupled receptor binding (GO:0001664), GTPase activity (GO:0003924), GTP binding (GO:0005525), adenylate cyclase inhibitor activity (GO:0010855), G-protein beta/gamma-subunit complex binding (GO:0031683), G protein-coupled serotonin receptor binding (GO:0031821), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), guanyl nucleotide binding (GO:0019001)

GO Cellular Component (9): nuclear envelope (GO:0005635), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), dendrite (GO:0030425), cell body (GO:0044297), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
GPCR downstream signalling	3
G alpha (s) signalling events	1
Anti-inflammatory response favouring Leishmania parasite infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
adenylate cyclase activity	2
G protein-coupled receptor signaling pathway	2
endomembrane system	2
G protein-coupled receptor activity	1
signal transduction	1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase inhibitor activity	1
insulin secretion	1
negative regulation of protein secretion	1
regulation of insulin secretion	1
negative regulation of peptide hormone secretion	1
G protein-coupled serotonin receptor activity	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signaling receptor binding	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cyclase inhibitor activity	1
adenylate cyclase regulator activity	1
protein-containing complex binding	1
G protein-coupled receptor binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
purine nucleotide binding	1
nucleus	1
organelle envelope	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1
extrinsic component of cytoplasmic side of plasma membrane	1
plasma membrane protein complex	1
GTPase complex	1
membrane	1

Protein interactions and networks

STRING

1813 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GNAZ	GPRIN1	Q7Z2K8	769
GNAZ	GPRIN2	O60269	743
GNAZ	SUCLG1	P53597	719
GNAZ	RGS20	O76081	710
GNAZ	RGS19	P49795	651
GNAZ	GPRIN3	Q6ZVF9	648
GNAZ	GNB2	P11016	606
GNAZ	RSPH14	Q9UHP6	585
GNAZ	RGS1	Q08116	578
GNAZ	GPR176	Q14439	540
GNAZ	VSNL1	P28677	479
GNAZ	ATP6V1E1	P36543	475
GNAZ	GNB5	O14775	470
GNAZ	RAB36	O95755	470
GNAZ	YWHAG	P35214	456

IntAct

71 interactions, top by confidence:

A	B	Type	Score
MED21	MED19	psi-mi:“MI:0914”(association)	0.880
BIRC2	HTRA2	psi-mi:“MI:0914”(association)	0.650
RNASE3	GGPS1	psi-mi:“MI:0914”(association)	0.640
FYTTD1	UBA6	psi-mi:“MI:0914”(association)	0.530
HOXB5	VPS37C	psi-mi:“MI:0914”(association)	0.530
GJB7	PALM3	psi-mi:“MI:0914”(association)	0.530
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
CCNL2	ZBTB43	psi-mi:“MI:0914”(association)	0.530
TMEM185A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
GNG10	GNAS	psi-mi:“MI:0914”(association)	0.530
GNAZ	MTHFR	psi-mi:“MI:0914”(association)	0.530
LRRK1	GNAZ	psi-mi:“MI:0407”(direct interaction)	0.440
GNAZ		psi-mi:“MI:0915”(physical association)	0.400
ADGRB2	GNAZ	psi-mi:“MI:0915”(physical association)	0.400
TM6SF2	GNAZ	psi-mi:“MI:0915”(physical association)	0.400
MLF1	GNAZ	psi-mi:“MI:0915”(physical association)	0.400
MLF2	GNAZ	psi-mi:“MI:0915”(physical association)	0.400
NUDCD3	GNAZ	psi-mi:“MI:0915”(physical association)	0.400
GNAZ	PSMD2	psi-mi:“MI:0915”(physical association)	0.400
GNAZ	STIP1	psi-mi:“MI:0915”(physical association)	0.400
GNAZ	FKBPL	psi-mi:“MI:0915”(physical association)	0.400
GNAZ	CACYBP	psi-mi:“MI:0915”(physical association)	0.400
GNAZ	AARSD1	psi-mi:“MI:0915”(physical association)	0.400
GNAZ	GNAZ	psi-mi:“MI:0915”(physical association)	0.370
CFTR	GNAZ	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (105): GNAZ (Two-hybrid), GNAZ (Affinity Capture-MS), GNAZ (Affinity Capture-MS), GNAZ (Affinity Capture-MS), GNAZ (Affinity Capture-MS), GNAZ (Affinity Capture-MS), DAAM1 (Affinity Capture-MS), MTHFR (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), C1orf85 (Affinity Capture-MS), ATP6V0A1 (Affinity Capture-MS), THOC7 (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), RNF123 (Affinity Capture-MS), EPHA4 (Affinity Capture-MS)

ESM2 similar proteins: A8MTJ3, G1XJZ0, O14438, O15975, O70443, O73819, O95837, P04695, P04696, P0C7Q4, P11488, P16894, P19086, P19087, P19627, P20353, P20612, P21278, P21279, P28052, P29348, P29992, P30677, P38407, P38408, P38409, P41776, P43444, P45645, P50148, P50149, P82471, P87033, P87034, Q18434, Q21917, Q28294, Q28300, Q2PKF4, Q2XSV9

Diamond homologs: A8MTJ3, B0XRA0, B2RSH2, O13055, O13315, O15976, O42784, O70443, O73819, O74227, O74259, O95837, P04695, P04696, P04897, P04899, P08239, P08752, P08753, P08754, P09471, P0C7Q4, P0CN96, P0CN97, P10824, P10825, P11488, P16051, P16378, P16894, P18872, P19086, P19087, P19627, P20353, P20612, P21278, P21279, P27044, P27045

SIGNOR signaling

83 interactions.

A	Effect	B	Mechanism
PRKCD	unknown	GNAZ	phosphorylation
CYSLTR2	“up-regulates activity”	GNAZ	binding
HTR2A	“up-regulates activity”	GNAZ	binding
HTR2B	“up-regulates activity”	GNAZ	binding
ADORA1	“up-regulates activity”	GNAZ	binding
ADRA2A	“up-regulates activity”	GNAZ	binding
ADRA2C	“up-regulates activity”	GNAZ	binding
CNR2	“up-regulates activity”	GNAZ	binding
DRD2	“up-regulates activity”	GNAZ	binding
DRD3	“up-regulates activity”	GNAZ	binding
DRD4	“up-regulates activity”	GNAZ	binding
GPR84	“up-regulates activity”	GNAZ	binding
HTR1E	“up-regulates activity”	GNAZ	binding
MTNR1A	“up-regulates activity”	GNAZ	binding
MTNR1B	“up-regulates activity”	GNAZ	binding
NPFFR1	“up-regulates activity”	GNAZ	binding
NPFFR2	“up-regulates activity”	GNAZ	binding
OPRK1	“up-regulates activity”	GNAZ	binding
OPRM1	“up-regulates activity”	GNAZ	binding
P2RY12	“up-regulates activity”	GNAZ	binding
S1PR1	“up-regulates activity”	GNAZ	binding
ADRA2B	“up-regulates activity”	GNAZ	binding
GPR183	“up-regulates activity”	GNAZ	binding
PTGER3	“up-regulates activity”	GNAZ	binding
GPR35	“up-regulates activity”	GNAZ	binding
LPAR5	“up-regulates activity”	GNAZ	binding
GALR3	“up-regulates activity”	GNAZ	binding
HTR1B	“up-regulates activity”	GNAZ	binding
HTR1D	“up-regulates activity”	GNAZ	binding
OPRL1	“up-regulates activity”	GNAZ	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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	69.3×	4e-08
G beta:gamma signalling through BTK	5	61.0×	7e-07
ADP signalling through P2Y purinoceptor 12	6	57.3×	1e-07
G beta:gamma signalling through PLC beta	5	54.9×	9e-07
G beta:gamma signalling through CDC42	5	54.9×	9e-07
ADP signalling through P2Y purinoceptor 1	6	52.7×	1e-07
Presynaptic function of Kainate receptors	5	52.3×	1e-06
G-protein activation	5	45.8×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1287 predictions. Top by Δscore:

Variant	Effect	Δscore
22:23096415:GACA:G	donor_gain	1.0000
22:23096419:G:GG	donor_gain	1.0000
22:23123085:A:AG	acceptor_gain	1.0000
22:23123086:G:GA	acceptor_gain	1.0000
22:23123086:GA:G	acceptor_gain	1.0000
22:23123086:GAGT:G	acceptor_gain	1.0000
22:23123086:GAGTC:G	acceptor_gain	1.0000
22:23070567:GGAG:G	donor_gain	0.9900
22:23070568:GAG:G	donor_gain	0.9900
22:23070568:GAGG:G	donor_gain	0.9900
22:23070571:G:GC	donor_loss	0.9900
22:23070572:T:G	donor_loss	0.9900
22:23096416:ACA:A	donor_gain	0.9900
22:23070571:G:GG	donor_gain	0.9800
22:23096407:GA:G	donor_gain	0.9800
22:23096414:AGACA:A	donor_gain	0.9800
22:23096416:ACAG:A	donor_loss	0.9800
22:23096417:CA:C	donor_gain	0.9800
22:23096417:CAGT:C	donor_loss	0.9800
22:23096418:AGTA:A	donor_loss	0.9800
22:23096420:T:A	donor_loss	0.9800
22:23096421:AA:A	donor_loss	0.9800
22:23070575:G:GG	donor_gain	0.9700
22:23070709:G:T	donor_gain	0.9700
22:23104960:T:G	acceptor_gain	0.9700
22:23123084:CAGAG:C	acceptor_gain	0.9700
22:23070574:A:AG	donor_gain	0.9600
22:23071144:A:G	donor_gain	0.9600
22:23095242:GGCA:G	acceptor_loss	0.9600
22:23095243:GCAG:G	acceptor_loss	0.9600

AlphaMissense

2351 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:23096329:T:A	W212R	1.000
22:23096329:T:C	W212R	1.000
22:23095813:G:C	G40R	0.999
22:23096204:C:A	P170H	0.999
22:23096321:G:C	R209P	0.999
22:23096331:G:C	W212C	0.999
22:23096331:G:T	W212C	0.999
22:23096341:T:C	F216L	0.999
22:23096343:C:A	F216L	0.999
22:23096343:C:G	F216L	0.999
22:23096356:G:C	A221P	0.999
22:23096365:T:C	F224L	0.999
22:23096367:C:A	F224L	0.999
22:23096367:C:G	F224L	0.999
22:23123378:G:C	A339P	0.999
22:23095802:T:C	L36P	0.998
22:23095805:T:C	L37P	0.998
22:23095813:G:T	G40C	0.998
22:23095814:G:T	G40V	0.998
22:23095829:G:A	G45D	0.998
22:23095831:A:C	K46Q	0.998
22:23095833:G:C	K46N	0.998
22:23095833:G:T	K46N	0.998
22:23095851:G:C	Q52H	0.998
22:23095851:G:T	Q52H	0.998
22:23096216:A:T	D174V	0.998
22:23096222:T:C	L176P	0.998
22:23096263:T:C	F190L	0.998
22:23096265:C:A	F190L	0.998
22:23096265:C:G	F190L	0.998

dbSNP variants (sampled 300 via entrez): RS1000029772 (22:23101005 G>A), RS1000101083 (22:23114480 C>G), RS1000271390 (22:23071717 G>A,C), RS1000344093 (22:23086903 C>T), RS1000369440 (22:23070718 CAG>C), RS1000419684 (22:23112370 A>G), RS1000500724 (22:23103246 C>T), RS1000501759 (22:23080498 C>T), RS1000551832 (22:23085231 C>A), RS1000563715 (22:23116709 C>G,T), RS1000582454 (22:23125233 G>A), RS1000643677 (22:23085684 G>A), RS1000651890 (22:23075679 C>T), RS1000679771 (22:23116909 C>G), RS1000690000 (22:23124036 G>C)

Disease associations

OMIM: gene MIM:139160 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000175_34	Height	6.000000e-06
GCST008818_2	Handedness (Left-handed vs. non-left-handed)	5.000000e-08
GCST008819_3	Handedness (left-handed vs. right-handed)	1.000000e-08
GCST010132_8	Processed meat consumption	5.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009902	handedness
EFO:0008111	diet measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs3788339	GNAZ, RSPH14		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	3
Valproic Acid	affects expression, increases expression	3
Aflatoxin B1	increases methylation, decreases expression	3
trichostatin A	affects expression, decreases expression	2
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
hydroxyhydroquinone	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	increases methylation	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
apicidin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Leflunomide	increases expression	1
Arsenic	decreases expression, increases abundance, affects cotreatment	1
Atrazine	decreases expression	1
Benzene	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

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