SNTG1

Summary

SNTG1 (syntrophin gamma 1, HGNC:13740) is a protein-coding gene on chromosome 8q11.21, encoding Gamma-1-syntrophin (Q9NSN8). Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins.

The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 54212 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 107 total
• MANE Select transcript: NM_018967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13740
Approved symbol	SNTG1
Name	syntrophin gamma 1
Location	8q11.21
Locus type	gene with protein product
Status	Approved
Aliases	SYN4, G1SYN
Ensembl gene	ENSG00000147481
Ensembl biotype	protein_coding
OMIM	608714
Entrez	54212

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 15 protein_coding, 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000517473, ENST00000518864, ENST00000520697, ENST00000520825, ENST00000521316, ENST00000521574, ENST00000523085, ENST00000524004, ENST00000642164, ENST00000642286, ENST00000642377, ENST00000642525, ENST00000642720, ENST00000642826, ENST00000643408, ENST00000643740, ENST00000643809, ENST00000643999, ENST00000644093, ENST00000644469, ENST00000644723, ENST00000646880, ENST00000647073, ENST00000647273, ENST00000940904

RefSeq mRNA: 8 — MANE Select: NM_018967 NM_001287813, NM_001287814, NM_001321773, NM_001321775, NM_001321776, NM_001321777, NM_001321778, NM_018967

CCDS: CCDS6147, CCDS75737, CCDS87608

Canonical transcript exons

ENST00000642720 — 19 exons

Exon	Start	End
ENSE00000980308	50402210	50402344
ENSE00000980313	50502778	50502880
ENSE00000980314	50530177	50530259
ENSE00000980315	50536678	50536808
ENSE00000980316	50553050	50553179
ENSE00001019562	50656909	50657025
ENSE00001019566	50590879	50590917
ENSE00001019567	50704600	50704752
ENSE00001019569	50658592	50658663
ENSE00001086909	50438543	50438599
ENSE00001086912	50450688	50450729
ENSE00001086915	50450556	50450599
ENSE00002091405	50172561	50172635
ENSE00002133077	50394212	50394265
ENSE00003463248	50708886	50708978
ENSE00003508795	50752001	50752111
ENSE00003789095	50449668	50449725
ENSE00003815322	50792671	50796692
ENSE00003829492	49911407	49912231

Expression profiles

Bgee: expression breadth ubiquitous, 144 present calls, max score 90.82.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1902 / max 760.7416, expressed in 145 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88813	0.6851	97
88811	0.6282	114
88814	0.2707	90
88809	0.2042	58
88810	0.1444	61
88812	0.1393	51
88815	0.0614	38
88808	0.0568	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
Brodmann (1909) area 23	UBERON:0013554	90.82	gold quality
primary visual cortex	UBERON:0002436	86.77	gold quality
middle temporal gyrus	UBERON:0002771	86.54	gold quality
ventricular zone	UBERON:0003053	85.41	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.57	gold quality
occipital lobe	UBERON:0002021	80.86	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.29	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.02	gold quality
nucleus accumbens	UBERON:0001882	79.77	gold quality
prefrontal cortex	UBERON:0000451	79.74	gold quality
caudate nucleus	UBERON:0001873	79.62	gold quality
anterior cingulate cortex	UBERON:0009835	79.32	gold quality
cingulate cortex	UBERON:0003027	79.22	gold quality
neocortex	UBERON:0001950	78.99	gold quality
superior frontal gyrus	UBERON:0002661	78.85	gold quality
frontal cortex	UBERON:0001870	78.52	gold quality
putamen	UBERON:0001874	78.23	gold quality
cerebral cortex	UBERON:0000956	78.03	gold quality
right frontal lobe	UBERON:0002810	77.77	gold quality
postcentral gyrus	UBERON:0002581	77.71	gold quality
telencephalon	UBERON:0001893	77.65	gold quality
entorhinal cortex	UBERON:0002728	76.96	gold quality
Ammon’s horn	UBERON:0001954	76.22	gold quality
forebrain	UBERON:0001890	76.13	gold quality
parietal lobe	UBERON:0001872	75.51	gold quality
brain	UBERON:0000955	74.30	gold quality
temporal lobe	UBERON:0001871	74.20	gold quality
ganglionic eminence	UBERON:0004023	74.02	gold quality
cortical plate	UBERON:0005343	73.30	gold quality
amygdala	UBERON:0001876	73.14	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	4375.93
E-HCAD-25	yes	2706.72
E-HCAD-35	yes	79.09
E-CURD-119	yes	37.23
E-GEOD-81547	yes	19.81
E-ANND-3	yes	8.41
E-GEOD-83139	yes	8.04
E-GEOD-93593	yes	4.57
E-MTAB-7303	no	291.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

176 targeting SNTG1, 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-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7F-2-3P	99.98	70.98	2588

Literature-anchored findings (GeneRIF, showing 3)

• suggests a differentiated role of a modified dystrophin-associated complex in the central nervous system (PMID:10747910)
• Includes a comparison of the Drosophila and human syntrophin proteins. (PMID:19836389)
• Brain-specific gamma1-syntrophin participates in gamma-enolase translocation towards the plasma membrane, a pre-requisite for its neurotrophic activity. (PMID:21358174)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	sntg1	ENSDARG00000061832
mus_musculus	Sntg1	ENSMUSG00000025909
rattus_norvegicus	Sntg1	ENSRNOG00000007294
drosophila_melanogaster	Syn2	FBGN0034135
caenorhabditis_elegans		WBGENE00017866

Paralogs (4): SNTA1 (ENSG00000101400), SNTB2 (ENSG00000168807), SNTB1 (ENSG00000172164), SNTG2 (ENSG00000172554)

Protein

Protein identifiers

Gamma-1-syntrophin — Q9NSN8 (reviewed: Q9NSN8)

Alternative names: Syntrophin-4

All UniProt accessions (18): Q9NSN8, A0A2R8Y457, A0A2R8Y5G8, A0A2R8Y5T2, A0A2R8Y631, A0A2R8Y668, A0A2R8Y6P6, A0A2R8Y7J9, A0A2R8Y7L6, A0A2R8Y7Z5, A0A2R8YDV6, A0A2R8YEF7, A0A2R8YF28, A0A2R8YFF5, A0A2R8YGL5, E5RHN6, E5RIN0, H0YC21

UniProt curated annotations — full annotation on UniProt →

Function. Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation.

Subunit / interactions. Isoform 1, but not isoform 2, interacts with the dystrophin protein DMD and related proteins DTNA and DTNB. Interacts with DGKZ.

Subcellular location. Cytoplasm. Cytoskeleton. Nucleus.

Tissue specificity. Brain specific. In CNS, it is expressed in the perikaryon and proximal portion of the neuronal processes. Strong expression in the hippocampus, neuron-rich dendate granule cells, and pyramidal cell layers. Highly expressed in neurons of the cerebral cortex. Also expressed in the cerebellar cortex, deep cerebellar nuclei, thalamus, and basal ganglia. No expression in muscle cells.

Domain organisation. The PDZ domain binds to the last three or four amino acids of DGKZ. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane.

Similarity. Belongs to the syntrophin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NSN8-1	1	yes
Q9NSN8-2	2

RefSeq proteins (8): NP_001274742, NP_001274743, NP_001308702, NP_001308704, NP_001308705, NP_001308706, NP_001308707, NP_061840* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR001849	PH_domain	Domain
IPR015482	Syntrophin	Family
IPR036034	PDZ_sf	Homologous_superfamily
IPR055108	Syntrophin_4th	Domain

Pfam: PF00595, PF23012

UniProt features (14 total): strand 6, helix 3, domain 2, chain 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7PC7	X-RAY DIFFRACTION	2.1
7QQN	X-RAY DIFFRACTION	2.45
7PC8	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NSN8-F1	83.13	0.64

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): RORA1_01, TGACCTY_ERR1_Q2, GOCC_RUFFLE, LHX3_01, GOBP_CELL_CELL_SIGNALING, GATA6_01, WTGAAAT_UNKNOWN, GOBP_SYNAPTIC_SIGNALING, AACTTT_UNKNOWN, GOMF_ACTIN_BINDING, MODULE_207, TGACCTTG_SF1_Q6, chr8q11, ACTWSNACTNY_UNKNOWN, GOCC_GLYCOPROTEIN_COMPLEX

GO Biological Process (1): cell communication (GO:0007154)

GO Molecular Function (3): actin binding (GO:0003779), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), dystrophin-associated glycoprotein complex (GO:0016010), syntrophin complex (GO:0016013), ruffle membrane (GO:0032587)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
plasma membrane protein complex	2
cellular process	1
cytoskeletal protein binding	1
molecular_function	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1
glycoprotein complex	1
dystrophin-associated glycoprotein complex	1
ruffle	1
cell projection membrane	1
leading edge membrane	1

Protein interactions and networks

STRING

754 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNTG1	DMD	P11532	932
SNTG1	DTNB	O60941	877
SNTG1	DTNA	Q9Y4J8	766
SNTG1	SNAP23	O00161	713
SNTG1	STXBP3	O00186	646
SNTG1	DGKZ	Q13574	621
SNTG1	SYN3	O14994	604
SNTG1	SYN2	Q92777	592
SNTG1	PLEK2	Q9NYT0	519
SNTG1	PLEK	P08567	514
SNTG1	SDC4	P31431	514
SNTG1	SNTB1	Q13884	505
SNTG1	SNTA1	Q13424	500
SNTG1	SYT7	O43581	489
SNTG1	UTRN	P46939	487

IntAct

363 interactions, top by confidence:

A	B	Type	Score
PLEKHA2	SNTG1	psi-mi:“MI:0915”(physical association)	0.680
PLEKHA2	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.680
LRRC4B	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.590
VTN	SNTG1	psi-mi:“MI:0915”(physical association)	0.560
E6	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
PTEN	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
SNTG1	RPS6KA1	psi-mi:“MI:0407”(direct interaction)	0.440
SNTG1	PBK	psi-mi:“MI:0407”(direct interaction)	0.440
GAS2L2	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
ADRA1D	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
TRPV3	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
Tax	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
SNTG1	DGKI	psi-mi:“MI:0407”(direct interaction)	0.440
SLC15A5	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
DGKZ	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
SLCO1C1	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
ARHGAP6	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
MAP4	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC1A7	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
ABCA1	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
FAM110D	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
XKR7	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
GRIN2C	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
GUCY1A2	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
PLEKHA1	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
ATP2B4	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
FRMPD4	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
LRRC4	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
MARCHF4	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
TANC1	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (39): SNTG1 (Reconstituted Complex), SNTG1 (Reconstituted Complex), STXBP3 (Reconstituted Complex), SNTG1 (Two-hybrid), PLEKHA2 (Two-hybrid), PLEKHA1 (Two-hybrid), PLEKHA1 (Reconstituted Complex), SNTG1 (Reconstituted Complex), SNTG1 (Reconstituted Complex), SNTG1 (Reconstituted Complex), SNTG1 (Reconstituted Complex), SNTG1 (Two-hybrid), SNTG1 (Two-hybrid), SNTG1 (Two-hybrid), E6 (PCA)

ESM2 similar proteins: A0A0G2JTR4, A1A4S6, A2AWA9, A4FUD6, A4II46, A6H6A9, A6QNS3, A6QQZ7, O60890, P09851, P0CAX5, P20936, P23727, P26450, P27986, P50904, Q08DP6, Q12979, Q5R372, Q5R5M3, Q5R685, Q5R6F2, Q5R8I6, Q5RCC1, Q5RCW6, Q5SSL4, Q5T2T1, Q5U2Y3, Q5ZJ17, Q5ZLX4, Q5ZMW5, Q62696, Q63787, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q8AVG0, Q8BPU7, Q8K0F1

Diamond homologs: A0A8C0TYJ0, A0A8P0N4K0, A5PKA5, F1MCA7, G5ECY0, O14907, O14910, O35274, O35867, O55164, O61967, O62674, O62675, O62676, O88951, O88952, P31016, P57105, P70175, P70587, P78352, P97879, Q0P5E6, Q0P5F3, Q12959, Q13424, Q13425, Q13884, Q14160, Q15599, Q22638, Q28626, Q28C55, Q2KIB6, Q32LE7, Q32LM6, Q3T0C9, Q3UHD6, Q4H4B6, Q5EBL8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SNTG1	“form complex”	DGC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 191 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
Long-term potentiation	6	23.2×	7e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	22.1×	3e-04
Negative regulation of NMDA receptor-mediated neuronal transmission	5	22.1×	3e-04
Amine ligand-binding receptors	5	14.1×	2e-03
Assembly and cell surface presentation of NMDA receptors	6	12.4×	7e-04
Neurexins and neuroligins	6	9.6×	2e-03
Post NMDA receptor activation events	5	8.3×	8e-03
Asymmetric localization of PCP proteins	5	8.3×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of cardiac conduction	6	28.9×	3e-05
positive regulation of synaptic transmission, glutamatergic	6	21.4×	1e-04
non-canonical Wnt signaling pathway	6	19.9×	1e-04
positive regulation of excitatory postsynaptic potential	6	18.1×	1e-04
focal adhesion assembly	5	15.1×	2e-03
substrate adhesion-dependent cell spreading	5	9.8×	8e-03
transport across blood-brain barrier	9	9.2×	1e-04
regulation of synaptic plasticity	6	8.9×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	75
Likely benign	17
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

7685 predictions. Top by Δscore:

Variant	Effect	Δscore
8:49910191:G:GT	donor_gain	1.0000
8:50172636:G:GG	donor_gain	1.0000
8:50394206:TTTCA:T	acceptor_loss	1.0000
8:50394207:TTCA:T	acceptor_loss	1.0000
8:50394208:TCAG:T	acceptor_loss	1.0000
8:50394209:CA:C	acceptor_loss	1.0000
8:50394210:AG:A	acceptor_loss	1.0000
8:50394211:G:A	acceptor_loss	1.0000
8:50394262:GGAG:G	donor_gain	1.0000
8:50394263:GAGG:G	donor_gain	1.0000
8:50394264:AGGTG:A	donor_loss	1.0000
8:50394265:GGTG:G	donor_loss	1.0000
8:50394266:G:T	donor_loss	1.0000
8:50394267:T:A	donor_loss	1.0000
8:50402201:A:AG	acceptor_gain	1.0000
8:50402201:AATCT:A	acceptor_gain	1.0000
8:50402202:A:G	acceptor_gain	1.0000
8:50402343:GT:G	donor_gain	1.0000
8:50402591:G:GT	donor_gain	1.0000
8:50449666:AG:A	acceptor_gain	1.0000
8:50449667:GG:G	acceptor_gain	1.0000
8:50450554:A:AG	acceptor_gain	1.0000
8:50450555:G:GG	acceptor_gain	1.0000
8:50457011:A:AG	acceptor_gain	1.0000
8:50457013:A:AG	acceptor_gain	1.0000
8:50457014:A:G	acceptor_gain	1.0000
8:50502775:CA:C	acceptor_loss	1.0000
8:50502776:A:AC	acceptor_loss	1.0000
8:50502877:GCAT:G	donor_gain	1.0000
8:50502881:G:GG	donor_gain	1.0000

AlphaMissense

3386 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:50438548:A:C	R56S	1.000
8:50438548:A:T	R56S	1.000
8:50438586:G:A	G69E	1.000
8:50438595:T:A	I72K	1.000
8:50449668:G:A	G74R	1.000
8:50449668:G:C	G74R	1.000
8:50449669:G:A	G74E	1.000
8:50450585:G:C	D103H	1.000
8:50450586:A:C	D103A	1.000
8:50450586:A:G	D103G	1.000
8:50450586:A:T	D103V	1.000
8:50502788:T:A	L125H	1.000
8:50502788:T:C	L125P	1.000
8:50502815:T:C	L134P	1.000
8:50536735:T:A	W203R	1.000
8:50536735:T:C	W203R	1.000
8:50658607:T:A	W328R	1.000
8:50658607:T:C	W328R	1.000
8:50708929:T:C	L412P	1.000
8:50708949:G:A	G419R	1.000
8:50708949:G:C	G419R	1.000
8:50708950:G:A	G419E	1.000
8:50708950:G:T	G419V	1.000
8:50708953:T:C	F420S	1.000
8:50752010:T:A	W432R	1.000
8:50752010:T:C	W432R	1.000
8:50752022:T:C	F436L	1.000
8:50752023:T:C	F436S	1.000
8:50752024:C:A	F436L	1.000
8:50752024:C:G	F436L	1.000

dbSNP variants (sampled 300 via entrez): RS1000002748 (8:50632299 T>C,G), RS1000002952 (8:49970054 A>G), RS1000007670 (8:49916670 GA>G), RS1000009713 (8:50612325 T>C), RS1000011442 (8:50154749 A>G), RS1000024887 (8:50215370 G>C), RS1000026748 (8:50483505 G>C), RS1000029322 (8:50245354 G>A,T), RS1000030785 (8:50407391 G>A,T), RS1000033590 (8:50411033 A>C), RS1000034410 (8:50776597 T>C), RS1000038227 (8:50439938 G>A,T), RS1000041828 (8:49999632 G>A), RS1000048305 (8:50694833 A>G,T), RS1000049791 (8:50662051 C>G)

Disease associations

OMIM: gene MIM:608714 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000106_8	Pulmonary function	5.000000e-06
GCST002663_7	Superior frontal gyrus grey matter volume	7.000000e-06
GCST005051_20	Obstructive sleep apnea trait (apnea hypopnea index)	8.000000e-07
GCST005833_4	Remission after SSRI treatment in MDD or openness	4.000000e-07
GCST005834_4	Response to SSRI in MDD or openness	7.000000e-08
GCST006103_9	Interleukin-6 levels	2.000000e-06
GCST007094_154	Diastolic blood pressure	1.000000e-07
GCST007096_166	Pulse pressure	7.000000e-07
GCST007099_31	Systolic blood pressure	4.000000e-11
GCST007267_331	Systolic blood pressure	4.000000e-10
GCST007325_182	General risk tolerance (MTAG)	1.000000e-08
GCST008367_1	Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis)	4.000000e-06
GCST009303_7	Abstraction and mental flexibility	1.000000e-06
GCST90000047_155	Age at first sexual intercourse	3.000000e-11

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0006516	superior frontal gyrus grey matter volume measurement
EFO:0007817	sleep apnea measurement
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0007914	openness measurement
EFO:0004810	interleukin-6 measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0008579	risk-taking behaviour
EFO:0009332	executive function measurement
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	decreases methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Lead	affects methylation	1
Malathion	decreases expression	1
Testosterone	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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