SNTG2
geneOn this page
Also known as SYN5G2SYN
Summary
SNTG2 (syntrophin gamma 2, HGNC:13741) is a protein-coding gene on chromosome 2p25.3, encoding Gamma-2-syntrophin (Q9NY99). Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins.
This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described.
Source: NCBI Gene 54221 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 149 total — 1 pathogenic
- MANE Select transcript:
NM_018968
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13741 |
| Approved symbol | SNTG2 |
| Name | syntrophin gamma 2 |
| Location | 2p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SYN5, G2SYN |
| Ensembl gene | ENSG00000172554 |
| Ensembl biotype | protein_coding |
| OMIM | 608715 |
| Entrez | 54221 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 8 protein_coding, 8 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000308624, ENST00000407292, ENST00000450962, ENST00000452177, ENST00000463442, ENST00000467759, ENST00000471239, ENST00000472606, ENST00000475201, ENST00000489646, ENST00000494178, ENST00000498321, ENST00000912579, ENST00000912580, ENST00000912581, ENST00000912582, ENST00000912583, ENST00000941025
RefSeq mRNA: 1 — MANE Select: NM_018968
NM_018968
CCDS: CCDS46220
Canonical transcript exons
ENST00000308624 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001191214 | 1098353 | 1098410 |
| ENSE00001191220 | 1098196 | 1098252 |
| ENSE00001191222 | 1083518 | 1083655 |
| ENSE00001406758 | 1237888 | 1238017 |
| ENSE00001427285 | 1247327 | 1247443 |
| ENSE00001428150 | 1259370 | 1259441 |
| ENSE00003496331 | 1209103 | 1209230 |
| ENSE00003511331 | 1239738 | 1239776 |
| ENSE00003530606 | 1137622 | 1137665 |
| ENSE00003554037 | 1137768 | 1137809 |
| ENSE00003578144 | 1367343 | 1367613 |
| ENSE00003578927 | 1173092 | 1173183 |
| ENSE00003580229 | 1316265 | 1316375 |
| ENSE00003591850 | 1308494 | 1308586 |
| ENSE00003635526 | 1267365 | 1267571 |
| ENSE00003653595 | 1165548 | 1165635 |
| ENSE00003841354 | 950849 | 951068 |
Expression profiles
Bgee: expression breadth ubiquitous, 166 present calls, max score 89.87.
FANTOM5 (CAGE): breadth broad, TPM avg 1.1001 / max 50.7060, expressed in 355 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 18551 | 0.6979 | 264 |
| 18550 | 0.3984 | 212 |
| 18554 | 0.0038 | 1 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 89.87 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.42 | gold quality |
| right testis | UBERON:0004534 | 80.72 | gold quality |
| left testis | UBERON:0004533 | 80.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.80 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.19 | gold quality |
| testis | UBERON:0000473 | 78.24 | gold quality |
| body of pancreas | UBERON:0001150 | 76.99 | gold quality |
| cortical plate | UBERON:0005343 | 76.42 | gold quality |
| spleen | UBERON:0002106 | 75.21 | gold quality |
| tibial nerve | UBERON:0001323 | 75.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 74.45 | gold quality |
| stromal cell of endometrium | CL:0002255 | 73.05 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 72.84 | gold quality |
| skin of leg | UBERON:0001511 | 72.29 | gold quality |
| body of uterus | UBERON:0009853 | 72.08 | gold quality |
| pituitary gland | UBERON:0000007 | 72.03 | gold quality |
| pancreas | UBERON:0001264 | 71.86 | gold quality |
| skin of abdomen | UBERON:0001416 | 71.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 71.25 | gold quality |
| buccal mucosa cell | CL:0002336 | 70.77 | silver quality |
| apex of heart | UBERON:0002098 | 70.77 | gold quality |
| left uterine tube | UBERON:0001303 | 70.72 | gold quality |
| omental fat pad | UBERON:0010414 | 70.22 | gold quality |
| peritoneum | UBERON:0002358 | 70.14 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 69.37 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 69.06 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 68.73 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 68.40 | gold quality |
| lower esophagus | UBERON:0013473 | 68.33 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.12 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting SNTG2, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-1286 | 99.09 | 66.23 | 1046 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-4684-3P | 98.24 | 69.91 | 1075 |
| HSA-MIR-495-5P | 97.62 | 68.28 | 682 |
| HSA-MIR-549A-5P | 96.35 | 68.08 | 587 |
Literature-anchored findings (GeneRIF, showing 4)
- role in regulating SCN5A gating by a PDZ domain-mediated interaction (PMID:12429735)
- A de novo binding partner of X-linked neuroligin 4 and neuroligin 3, which correlates with autism-related mutations. (PMID:17292328)
- MYT1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins. (PMID:23061379)
- Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community. (PMID:32602654)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sntg2 | ENSDARG00000101660 |
| mus_musculus | Sntg2 | ENSMUSG00000020672 |
| rattus_norvegicus | Sntg2 | ENSRNOG00000004928 |
| drosophila_melanogaster | Syn2 | FBGN0034135 |
| caenorhabditis_elegans | WBGENE00017866 |
Paralogs (4): SNTA1 (ENSG00000101400), SNTG1 (ENSG00000147481), SNTB2 (ENSG00000168807), SNTB1 (ENSG00000172164)
Protein
Protein identifiers
Gamma-2-syntrophin — Q9NY99 (reviewed: Q9NY99)
Alternative names: Syntrophin-5
All UniProt accessions (2): Q9NY99, F2Z2D2
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.
Subunit / interactions. Interacts with the dystrophin protein DMD and related proteins DTNA and DTNB.
Subcellular location. Cell membrane. Sarcolemma. Cytoplasm. Cytoskeleton.
Tissue specificity. Widely expressed. Strong expression in brain and testis. 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.
Domain organisation. 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? |
|---|---|---|
| Q9NY99-1 | 1 | yes |
| Q9NY99-2 | 2 |
RefSeq proteins (1): NP_061841* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001478 | PDZ | Domain |
| IPR015482 | Syntrophin | Family |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR055108 | Syntrophin_4th | Domain |
Pfam: PF00595, PF23012
UniProt features (20 total): strand 5, helix 3, sequence variant 3, domain 2, compositionally biased region 2, chain 1, sequence conflict 1, turn 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QQL | X-RAY DIFFRACTION | 2.44 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NY99-F1 | 80.14 | 0.56 |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9913351 | Formation of the dystrophin-glycoprotein complex (DGC) |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-3000171 | Non-integrin membrane-ECM interactions |
MSigDB gene sets: 66 (showing top):
chr2p25, MODULE_205, FINAK_BREAST_CANCER_SDPP_SIGNATURE, LASTOWSKA_COAMPLIFIED_WITH_MYCN, GOMF_ACTIN_BINDING, KANG_IMMORTALIZED_BY_TERT_DN, GOMF_SIGNALING_RECEPTOR_BINDING, MODULE_207, GOCC_GLYCOPROTEIN_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_SARCOLEMMA, GOCC_PLASMA_MEMBRANE_PROTEIN_COMPLEX, GOMF_CYTOSKELETAL_PROTEIN_BINDING, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3
GO Biological Process (1): central nervous system development (GO:0007417)
GO Molecular Function (5): actin binding (GO:0003779), structural molecule activity (GO:0005198), PDZ domain binding (GO:0030165), neuroligin family protein binding (GO:0097109), protein binding (GO:0005515)
GO Cellular Component (8): nucleoplasm (GO:0005654), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), dystrophin-associated glycoprotein complex (GO:0016010), syntrophin complex (GO:0016013), sarcolemma (GO:0042383), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Non-integrin membrane-ECM interactions | 1 |
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| plasma membrane protein complex | 2 |
| nervous system development | 1 |
| system development | 1 |
| cytoskeletal protein binding | 1 |
| molecular_function | 1 |
| protein domain specific binding | 1 |
| signaling receptor binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| glycoprotein complex | 1 |
| dystrophin-associated glycoprotein complex | 1 |
| plasma membrane | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
820 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNTG2 | DTNB | O60941 | 887 |
| SNTG2 | ATP11C | Q8NB49 | 873 |
| SNTG2 | DMD | P11532 | 830 |
| SNTG2 | DTNA | Q9Y4J8 | 797 |
| SNTG2 | MYT1L | Q9UL68 | 622 |
| SNTG2 | SOX3 | P35714 | 598 |
| SNTG2 | UTRN | P46939 | 557 |
| SNTG2 | NLGN4X | Q8N0W4 | 528 |
| SNTG2 | ACP1 | P24666 | 526 |
| SNTG2 | SNTB1 | Q13884 | 513 |
| SNTG2 | NLGN3 | Q9NZ94 | 508 |
| SNTG2 | PLEK2 | Q9NYT0 | 505 |
| SNTG2 | STX5 | Q13190 | 505 |
| SNTG2 | SNTB2 | Q13425 | 503 |
| SNTG2 | F9 | P00740 | 497 |
IntAct
384 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PTEN | PTEN | psi-mi:“MI:0915”(physical association) | 0.710 |
| SCN5A | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| E6 | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SNTG2 | PTEN | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| RPS6KA1 | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SNTG2 | E6 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SNTG2 | E6 | psi-mi:“MI:0915”(physical association) | 0.610 |
| Tax | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SNTG2 | Tax | psi-mi:“MI:0915”(physical association) | 0.610 |
| NET1 | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| SNTG2 | NET1 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| RPS6KA1 | RPS6KA1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| SNTG2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SNTG2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| DTNB | SNTG2 | psi-mi:“MI:0915”(physical association) | 0.550 |
| SNTG2 | DTNB | psi-mi:“MI:0914”(association) | 0.550 |
BioGRID (49): SNTG2 (Two-hybrid), SNTG2 (Affinity Capture-Western), VIMP (Affinity Capture-Western), DMD (Affinity Capture-MS), DTNB (Affinity Capture-MS), SNTA1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), DTNA (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), UTRN (Affinity Capture-MS), SNTG2 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), SNTG2 (Affinity Capture-RNA), SNTG2 (Biochemical Activity)
ESM2 similar proteins: A1L2W9, B2RQE8, B5XG43, G9CGD6, O08969, O88387, P59113, Q0V987, Q0VC85, Q1KKW7, Q1KKZ1, Q32LP0, Q3UUV5, Q3ZBA3, Q4V7G1, Q503L1, Q53GA4, Q5FVW6, Q5PQT7, Q5R8M5, Q5U597, Q5XGP7, Q5ZL23, Q6P0G8, Q6PG29, Q7Z628, Q7Z6J4, Q80VL0, Q80YS6, Q86UX7, Q86WV1, Q8AW35, Q8BY35, Q8IZC4, Q8K1B8, Q8N556, Q8VH46, Q91ZM9, Q91ZT5, Q925E0
Diamond homologs: A0A140LI67, A5PKA5, A7UA95, E1JIT7, O14910, O15018, O19132, O35274, O35867, O35889, O62666, O62674, O62675, O62676, O62677, O62678, O88951, O88952, P11434, P29475, P29476, P31016, P51140, P55196, P57105, P78352, Q07436, Q0P5F3, Q12923, Q14005, Q29498, Q2KIB6, Q32LM6, Q3T0C9, Q3UHD6, Q4KL35, Q5F425, Q5RAA5, Q62108, Q64512
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SNTG2 | “form complex” | DGC | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 170 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 |
|---|---|---|---|
| Neurexins and neuroligins | 8 | 14.3× | 2e-05 |
| p75 NTR receptor-mediated signalling | 6 | 10.2× | 1e-03 |
| G alpha (12/13) signalling events | 8 | 10.0× | 2e-04 |
| Cell death signalling via NRAGE, NRIF and NADE | 5 | 10.0× | 4e-03 |
| Signaling by NTRKs | 6 | 9.9× | 1e-03 |
| Signaling by NTRK1 (TRKA) | 5 | 8.9× | 6e-03 |
| Class B/2 (Secretin family receptors) | 5 | 8.7× | 6e-03 |
| NRAGE signals death through JNK | 5 | 8.4× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of synaptic transmission, glutamatergic | 6 | 24.0× | 3e-05 |
| positive regulation of excitatory postsynaptic potential | 7 | 23.6× | 7e-06 |
| non-canonical Wnt signaling pathway | 5 | 18.6× | 7e-04 |
| transport across blood-brain barrier | 10 | 11.5× | 7e-06 |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | 5 | 10.8× | 5e-03 |
| synapse organization | 5 | 9.0× | 9e-03 |
| positive regulation of GTPase activity | 5 | 8.8× | 9e-03 |
| calcium ion transmembrane transport | 6 | 8.1× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
149 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 116 |
| Likely benign | 19 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 60104 | GRCh38/hg38 2p25.3(chr2:50661-3293835)x1 | Pathogenic |
SpliceAI
7810 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:1083517:GACGA:G | acceptor_gain | 1.0000 |
| 2:1083651:GGAAT:G | donor_gain | 1.0000 |
| 2:1083652:GAAT:G | donor_gain | 1.0000 |
| 2:1083652:GAATG:G | donor_gain | 1.0000 |
| 2:1083656:G:GG | donor_gain | 1.0000 |
| 2:1098183:A:G | acceptor_gain | 1.0000 |
| 2:1133823:A:AG | acceptor_gain | 1.0000 |
| 2:1133823:ACT:A | acceptor_gain | 1.0000 |
| 2:1133824:C:G | acceptor_gain | 1.0000 |
| 2:1133825:T:A | acceptor_gain | 1.0000 |
| 2:1165542:TGACA:T | acceptor_loss | 1.0000 |
| 2:1165543:GACA:G | acceptor_loss | 1.0000 |
| 2:1165544:ACAG:A | acceptor_loss | 1.0000 |
| 2:1165545:CAGG:C | acceptor_loss | 1.0000 |
| 2:1165546:A:AG | acceptor_gain | 1.0000 |
| 2:1165546:A:AT | acceptor_loss | 1.0000 |
| 2:1165547:G:GG | acceptor_gain | 1.0000 |
| 2:1165547:G:GT | acceptor_loss | 1.0000 |
| 2:1165547:GGT:G | acceptor_gain | 1.0000 |
| 2:1165547:GGTGC:G | acceptor_gain | 1.0000 |
| 2:1219955:A:G | donor_gain | 1.0000 |
| 2:1238014:GAAC:G | donor_gain | 1.0000 |
| 2:1259364:TTGCA:T | acceptor_loss | 1.0000 |
| 2:1259365:TGCAG:T | acceptor_loss | 1.0000 |
| 2:1259366:GCAGG:G | acceptor_loss | 1.0000 |
| 2:1259367:CAG:C | acceptor_loss | 1.0000 |
| 2:1259369:GGT:G | acceptor_gain | 1.0000 |
| 2:1259369:GGTGA:G | acceptor_gain | 1.0000 |
| 2:1259438:CAAGG:C | donor_loss | 1.0000 |
| 2:1267364:GTTCT:G | acceptor_gain | 1.0000 |
AlphaMissense
3545 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:1098384:T:A | I100K | 0.994 |
| 2:1137640:T:C | L115S | 0.993 |
| 2:1165591:T:A | V152D | 0.992 |
| 2:1316341:T:C | F485S | 0.990 |
| 2:1098381:T:A | V99D | 0.989 |
| 2:1267521:T:A | W412R | 0.989 |
| 2:1267521:T:C | W412R | 0.989 |
| 2:1308561:T:C | F451S | 0.989 |
| 2:1098384:T:G | I100R | 0.988 |
| 2:1137652:A:T | D119V | 0.988 |
| 2:1316286:T:C | F467L | 0.988 |
| 2:1316288:T:A | F467L | 0.988 |
| 2:1316288:T:G | F467L | 0.988 |
| 2:1137652:A:C | D119A | 0.987 |
| 2:1137651:G:C | D119H | 0.986 |
| 2:1137652:A:G | D119G | 0.986 |
| 2:1137772:A:T | N125I | 0.986 |
| 2:1165617:T:C | F161L | 0.985 |
| 2:1165619:T:A | F161L | 0.985 |
| 2:1165619:T:G | F161L | 0.985 |
| 2:1098248:T:A | I88K | 0.984 |
| 2:1247342:T:A | W302R | 0.983 |
| 2:1247342:T:C | W302R | 0.983 |
| 2:1247396:T:C | F320L | 0.983 |
| 2:1247398:C:A | F320L | 0.983 |
| 2:1247398:C:G | F320L | 0.983 |
| 2:1316296:T:C | L470P | 0.983 |
| 2:1098252:G:C | K89N | 0.982 |
| 2:1098252:G:T | K89N | 0.982 |
| 2:1137649:G:T | G118V | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000000252 (2:994629 C>G,T), RS1000007891 (2:1033260 T>C), RS1000009395 (2:1324455 GAA>G,GAAA), RS1000019847 (2:1118746 T>C,G), RS1000019906 (2:1310509 A>G), RS1000032352 (2:1111617 T>A), RS1000036688 (2:1113846 G>C,T), RS1000042133 (2:1205466 G>T), RS1000042753 (2:1190798 A>G), RS1000054849 (2:1037063 A>G), RS1000058096 (2:1081274 A>G), RS1000106436 (2:1338781 C>G), RS1000122329 (2:1255358 A>G), RS1000122701 (2:1070915 C>T), RS1000128685 (2:1006520 G>A,C)
Disease associations
OMIM: gene MIM:608715 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003263_49 | Post bronchodilator FEV1 in COPD | 2.000000e-07 |
| GCST003265_383 | Post bronchodilator FEV1/FVC ratio in COPD | 4.000000e-06 |
| GCST003988_13 | Hypothyroidism | 6.000000e-14 |
| GCST005412_4 | Thrombin-activatable fibrinolysis inhibitor levels | 5.000000e-07 |
| GCST005950_2 | Body mass index x sex x age interaction (4df test) | 5.000000e-75 |
| GCST005951_193 | Body mass index | 1.000000e-72 |
| GCST005952_2 | Body mass index (age>50) | 2.000000e-30 |
| GCST005954_1 | Body mass index x age interaction | 4.000000e-07 |
| GCST006088_54 | Familial squamous cell lung carcinoma | 6.000000e-06 |
| GCST009870_26 | Calcific aortic valve stenosis | 9.000000e-06 |
| GCST010002_382 | Refractive error | 6.000000e-25 |
| GCST010396_265 | Gut microbiota (bacterial taxa, hurdle binary method) | 3.000000e-07 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0006953 | family history of lung cancer |
| EFO:0000266 | aortic stenosis |
| EFO:0007874 | gut microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects methylation, decreases expression | 2 |
| bisphenol F | increases methylation, affects cotreatment | 1 |
| methyleugenol | decreases expression | 1 |
| bisphenol A | affects cotreatment, affects methylation, decreases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| metolachlor | affects methylation, increases abundance | 1 |
| bisphenol S | decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment, affects methylation | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Herbicides | affects methylation, increases abundance | 1 |
| Methapyrilene | increases methylation | 1 |
| Methotrexate | decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Rotenone | increases expression | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aortic valve calcification, hypothyroidism, squamous cell lung carcinoma