SNX8
gene geneOn this page
Also known as Mvp1
Summary
SNX8 (sorting nexin 8, HGNC:14972) is a protein-coding gene on chromosome 7p22.3, encoding Sorting nexin-8 (Q9Y5X2). May be involved in several stages of intracellular trafficking.
Enables identical protein binding activity and phosphatidylinositol binding activity. Involved in early endosome to Golgi transport and intracellular protein transport. Located in early endosome membrane and retromer complex.
Source: NCBI Gene 29886 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 113 total
- MANE Select transcript:
NM_013321
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14972 |
| Approved symbol | SNX8 |
| Name | sorting nexin 8 |
| Location | 7p22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Mvp1 |
| Ensembl gene | ENSG00000106266 |
| Ensembl biotype | protein_coding |
| OMIM | 614905 |
| Entrez | 29886 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron
ENST00000222990, ENST00000419693, ENST00000435060, ENST00000435336, ENST00000447136, ENST00000457286, ENST00000479689, ENST00000480807, ENST00000494722, ENST00000878403, ENST00000878404, ENST00000926983, ENST00000926984
RefSeq mRNA: 1 — MANE Select: NM_013321
NM_013321
CCDS: CCDS5331
Canonical transcript exons
ENST00000222990 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000668098 | 2275112 | 2275229 |
| ENSE00000668099 | 2271850 | 2271971 |
| ENSE00000668103 | 2257735 | 2257803 |
| ENSE00000668104 | 2257365 | 2257514 |
| ENSE00000831511 | 2314328 | 2314441 |
| ENSE00001156125 | 2251770 | 2255169 |
| ENSE00003496078 | 2256874 | 2257023 |
| ENSE00003568471 | 2263230 | 2263362 |
| ENSE00003574835 | 2264298 | 2264458 |
| ENSE00003578352 | 2269559 | 2269639 |
| ENSE00003667250 | 2278100 | 2278305 |
Expression profiles
Bgee: expression breadth ubiquitous, 187 present calls, max score 94.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.2744 / max 239.8270, expressed in 1808 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82485 | 18.9459 | 1806 |
| 82487 | 2.1058 | 1078 |
| 82486 | 0.2085 | 76 |
| 82483 | 0.0080 | 2 |
| 82482 | 0.0062 | 4 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 94.76 | gold quality |
| left testis | UBERON:0004533 | 93.72 | gold quality |
| right testis | UBERON:0004534 | 92.92 | gold quality |
| spleen | UBERON:0002106 | 92.67 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.28 | gold quality |
| testis | UBERON:0000473 | 91.15 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.43 | gold quality |
| lymph node | UBERON:0000029 | 89.88 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.69 | gold quality |
| gall bladder | UBERON:0002110 | 88.57 | gold quality |
| prefrontal cortex | UBERON:0000451 | 87.78 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.65 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.55 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 87.51 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.28 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.22 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.02 | gold quality |
| granulocyte | CL:0000094 | 86.80 | gold quality |
| cerebellar vermis | UBERON:0004720 | 86.80 | silver quality |
| upper lobe of left lung | UBERON:0008952 | 86.79 | gold quality |
| omental fat pad | UBERON:0010414 | 86.78 | gold quality |
| skin of leg | UBERON:0001511 | 86.76 | gold quality |
| caecum | UBERON:0001153 | 86.74 | gold quality |
| peritoneum | UBERON:0002358 | 86.74 | gold quality |
| amniotic fluid | UBERON:0000173 | 86.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 86.30 | gold quality |
| spinal cord | UBERON:0002240 | 85.98 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.93 | gold quality |
| cardiac atrium | UBERON:0002081 | 85.87 | gold quality |
| upper lobe of lung | UBERON:0008948 | 85.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 12.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
126 targeting SNX8, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
Literature-anchored findings (GeneRIF, showing 6)
- SNX4, but not SNX1 and SNX8, is associated with the Rab11-recycling endosomes and that a high frequency of SNX4-mediated tubule formation is observed as endosomes undergo Rab4-to-Rab11 transition. (PMID:21973056)
- SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot. (PMID:24311514)
- SNX8 mediates IFNG-triggered non-canonical signaling pathway and host defense against Listeria monocytogenes. (PMID:29180417)
- Fatty Acid Synthase-Suppressor Screening Identifies Sorting Nexin 8 as a Therapeutic Target for NAFLD. (PMID:34231239)
- A PX-BAR protein Mvp1/SNX8 and a dynamin-like GTPase Vps1 drive endosomal recycling. (PMID:34524084)
- SNX8 enables lysosome reformation and reverses lysosomal storage disorder. (PMID:38519472)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snx8a | ENSDARG00000074842 |
| danio_rerio | snx8b | ENSDARG00000078057 |
| mus_musculus | Snx8 | ENSMUSG00000029560 |
| rattus_norvegicus | Snx8 | ENSRNOG00000001258 |
Paralogs (15): SNX11 (ENSG00000002919), SNX1 (ENSG00000028528), SNX10 (ENSG00000086300), SNX5 (ENSG00000089006), SNX3 (ENSG00000112335), SNX4 (ENSG00000114520), SNX6 (ENSG00000129515), SNX9 (ENSG00000130340), SNX12 (ENSG00000147164), SNX30 (ENSG00000148158), SNX7 (ENSG00000162627), SNX32 (ENSG00000172803), SNX33 (ENSG00000173548), SNX18 (ENSG00000178996), SNX2 (ENSG00000205302)
Protein
Protein identifiers
Sorting nexin-8 — Q9Y5X2 (reviewed: Q9Y5X2)
All UniProt accessions (6): Q9Y5X2, C9IYC5, C9J014, C9J271, C9J8E6, C9JCB9
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network.
Subcellular location. Early endosome membrane.
Similarity. Belongs to the sorting nexin family.
RefSeq proteins (1): NP_037453* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001683 | PX_dom | Domain |
| IPR027267 | AH/BAR_dom_sf | Homologous_superfamily |
| IPR028662 | SNX8/Mvp1 | Family |
| IPR035704 | SNX8/Mvp1_PX | Domain |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR045734 | Snx8_BAR_dom | Domain |
Pfam: PF00787, PF19566
UniProt features (10 total): binding site 3, modified residue 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5X2-F1 | 84.36 | 0.68 |
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 (3): 109; 135; 148
Post-translational modifications (2): 452, 456
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 193 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, KYNG_DNA_DAMAGE_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, chr7p22, GOBP_EARLY_ENDOSOME_TO_GOLGI_TRANSPORT, USF_02, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, MODULE_48, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, IZADPANAH_STEM_CELL_ADIPOSE_VS_BONE_UP, MODULE_95, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, SENESE_HDAC3_TARGETS_DN, GOBP_CYTOSOLIC_TRANSPORT
GO Biological Process (4): intracellular protein transport (GO:0006886), early endosome to Golgi transport (GO:0034498), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147)
GO Molecular Function (4): phosphatidylinositol binding (GO:0035091), identical protein binding (GO:0042802), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (6): cytosol (GO:0005829), early endosome membrane (GO:0031901), endosome (GO:0005768), membrane (GO:0016020), retromer complex (GO:0030904), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| binding | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| endomembrane system | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| retrograde transport, endosome to Golgi | 1 |
| Golgi vesicle transport | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| intercellular transport | 1 |
| endosomal transport | 1 |
| cytosolic transport | 1 |
| anion binding | 1 |
| protein binding | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| cytoplasmic vesicle | 1 |
| membrane protein complex | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
962 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNX8 | SNX3 | O60493 | 794 |
| SNX8 | SNX1 | Q13596 | 754 |
| SNX8 | PIK3C3 | Q8NEB9 | 683 |
| SNX8 | VPS35 | Q96QK1 | 666 |
| SNX8 | SNX5 | Q9Y5X3 | 651 |
| SNX8 | SNX32 | Q86XE0 | 643 |
| SNX8 | SNX6 | Q9UNH7 | 623 |
| SNX8 | DCHS1 | Q96JQ0 | 616 |
| SNX8 | SNX12 | Q9UMY4 | 607 |
| SNX8 | VPS26A | O75436 | 547 |
| SNX8 | SNX15 | Q9NRS6 | 543 |
| SNX8 | SNX4 | O95219 | 542 |
| SNX8 | VPS29 | Q9UBQ0 | 535 |
| SNX8 | SNX17 | Q15036 | 533 |
| SNX8 | SNX27 | Q96L92 | 527 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR3GL | POLR3A | psi-mi:“MI:0914”(association) | 0.730 |
| SNX8 | POR | psi-mi:“MI:0914”(association) | 0.640 |
| GYPA | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| REEP6 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RABAC1 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL6IP1 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| C14orf119 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AKT3 | HSP90AA1 | psi-mi:“MI:0914”(association) | 0.560 |
| RXRG | NR2F6 | psi-mi:“MI:0914”(association) | 0.530 |
| CFP | B3GLCT | psi-mi:“MI:0914”(association) | 0.530 |
| NFIL3 | STK40 | psi-mi:“MI:0914”(association) | 0.530 |
| WLS | CHRNB1 | psi-mi:“MI:0914”(association) | 0.530 |
| BSG | BTAF1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| Dlg4 | SNX8 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ABL1 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FYN | SNX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX8 | GRB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX8 | NCK1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX8 | PIK3R1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX8 | MYDGF | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX8 | MAVS | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX8 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX9 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX18 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SNX33 | SNX8 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (55): SNX8 (Affinity Capture-RNA), SNX8 (Affinity Capture-RNA), SNX8 (Affinity Capture-RNA), MSH3 (Co-fractionation), SNX8 (Co-fractionation), SNX8 (Affinity Capture-MS), FBXW7 (Affinity Capture-MS), POR (Affinity Capture-MS), RUFY1 (Affinity Capture-MS), SNX8 (Affinity Capture-MS), LACC1 (Affinity Capture-MS), SNX8 (Affinity Capture-MS), SNX8 (Affinity Capture-MS), SNX8 (Two-hybrid), REEP6 (Two-hybrid)
ESM2 similar proteins: A5PK26, F8VPU2, O14526, O14976, O15068, O75064, O94887, P00530, P97874, P98150, P98171, Q00653, Q15027, Q15149, Q2HJE1, Q2KHV6, Q3TBD2, Q3U1Y4, Q4LDD4, Q5FVC7, Q5RB40, Q5RC07, Q5U464, Q5ZK62, Q61210, Q64096, Q6DE55, Q6IVG4, Q6P730, Q6ZQK5, Q6ZSZ5, Q8CFD4, Q8K285, Q8K2H4, Q8R5G7, Q8TDY4, Q8WWN8, Q91VS8, Q91ZR2, Q92619
Diamond homologs: A0A1B7YDZ4, I1RXT2, O14243, O60107, O60493, O70492, O70493, P0CR58, P0CR59, P0CR60, P0CR61, P0CR62, P0CR63, P40959, P47057, Q08826, Q08DD7, Q1RMH8, Q2U4K2, Q2UB56, Q3MPQ4, Q4I1H6, Q4P1V3, Q4PHC3, Q4WQI6, Q4WWS3, Q4WZF1, Q522W5, Q5A748, Q5B797, Q5H7C3, Q5R5V1, Q5U211, Q6C2S9, Q6CTQ0, Q6CUC4, Q6FNH2, Q6FPT9, Q6FT03, Q75C43
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| JAK1 | “up-regulates activity” | SNX8 | phosphorylation |
| SNX8 | “up-regulates activity” | IKBKB | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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 |
|---|---|---|---|
| VEGFA-VEGFR2 Pathway | 5 | 16.6× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 93 |
| Likely benign | 5 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2649 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:2256869:CTCA:C | donor_loss | 1.0000 |
| 7:2256870:TCA:T | donor_loss | 1.0000 |
| 7:2256871:CACCT:C | donor_loss | 1.0000 |
| 7:2256872:A:AC | donor_gain | 1.0000 |
| 7:2256872:ACCT:A | donor_gain | 1.0000 |
| 7:2256872:ACCTC:A | donor_gain | 1.0000 |
| 7:2256873:C:CC | donor_gain | 1.0000 |
| 7:2256873:C:CG | donor_loss | 1.0000 |
| 7:2256873:CCT:C | donor_gain | 1.0000 |
| 7:2256873:CCTC:C | donor_gain | 1.0000 |
| 7:2256873:CCTCC:C | donor_gain | 1.0000 |
| 7:2256875:T:TA | donor_gain | 1.0000 |
| 7:2257021:CTG:C | acceptor_gain | 1.0000 |
| 7:2257024:C:CC | acceptor_gain | 1.0000 |
| 7:2257730:CTCA:C | donor_loss | 1.0000 |
| 7:2257731:TCA:T | donor_loss | 1.0000 |
| 7:2257732:CA:C | donor_loss | 1.0000 |
| 7:2257733:ACCTT:A | donor_loss | 1.0000 |
| 7:2264294:CTAC:C | donor_loss | 1.0000 |
| 7:2264295:TA:T | donor_loss | 1.0000 |
| 7:2264296:A:AC | donor_gain | 1.0000 |
| 7:2264296:ACC:A | donor_loss | 1.0000 |
| 7:2264297:C:CC | donor_gain | 1.0000 |
| 7:2264463:CATCA:C | acceptor_gain | 1.0000 |
| 7:2264466:C:CT | acceptor_gain | 1.0000 |
| 7:2264467:A:AC | acceptor_gain | 1.0000 |
| 7:2264467:A:C | acceptor_gain | 1.0000 |
| 7:2264467:A:T | acceptor_gain | 1.0000 |
| 7:2264470:A:AC | acceptor_gain | 1.0000 |
| 7:2264470:A:C | acceptor_gain | 1.0000 |
AlphaMissense
3053 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:2271947:C:A | R148M | 1.000 |
| 7:2275206:T:A | R108S | 1.000 |
| 7:2275206:T:G | R108S | 1.000 |
| 7:2275207:C:G | R108T | 1.000 |
| 7:2257510:A:G | L330P | 0.999 |
| 7:2271947:C:G | R148T | 0.999 |
| 7:2275125:C:A | K135N | 0.999 |
| 7:2275125:C:G | K135N | 0.999 |
| 7:2275191:G:C | F113L | 0.999 |
| 7:2275191:G:T | F113L | 0.999 |
| 7:2275192:A:G | F113S | 0.999 |
| 7:2275193:A:G | F113L | 0.999 |
| 7:2275202:A:C | Y110D | 0.999 |
| 7:2275207:C:A | R108I | 0.999 |
| 7:2278117:A:G | Y95H | 0.999 |
| 7:2278126:G:C | H92D | 0.999 |
| 7:2271935:A:G | L152P | 0.998 |
| 7:2271946:C:A | R148S | 0.998 |
| 7:2271946:C:G | R148S | 0.998 |
| 7:2275127:T:C | K135E | 0.998 |
| 7:2275150:C:G | R127P | 0.998 |
| 7:2275195:T:C | D112G | 0.998 |
| 7:2275202:A:G | Y110H | 0.998 |
| 7:2275208:T:C | R108G | 0.998 |
| 7:2278124:A:C | H92Q | 0.998 |
| 7:2278124:A:T | H92Q | 0.998 |
| 7:2278134:A:G | F89S | 0.998 |
| 7:2255157:A:G | W433R | 0.997 |
| 7:2255157:A:T | W433R | 0.997 |
| 7:2257501:C:G | R333P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000000608 (7:2261182 C>A,T), RS1000025529 (7:2303111 G>A,C,T), RS1000026037 (7:2317303 G>A,C,T), RS1000043891 (7:2334328 G>A), RS1000051263 (7:2261337 G>T), RS1000056511 (7:2302909 C>T), RS1000111110 (7:2324511 G>A), RS1000124580 (7:2330567 A>G), RS1000140057 (7:2335793 A>G), RS1000155480 (7:2330804 TC>T), RS1000186507 (7:2264292 A>G,T), RS1000193484 (7:2320676 A>G), RS1000223243 (7:2320427 T>C,G), RS1000230223 (7:2295858 T>C), RS1000290544 (7:2286070 G>A)
Disease associations
OMIM: gene MIM:614905 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001565_9 | Schizophrenia | 2.000000e-09 |
| GCST002149_3 | Schizophrenia | 6.000000e-13 |
| GCST004521_264 | Autism spectrum disorder or schizophrenia | 7.000000e-16 |
| GCST005759_5 | Dimensional psychopathology (Social) | 2.000000e-07 |
| GCST005934_1 | Neuropathic pain in head and neck cancer | 3.000000e-14 |
| GCST006612_114 | LDL cholesterol | 1.000000e-08 |
| GCST010653_13 | Thyroid stimulating hormone levels | 8.000000e-09 |
| GCST90002395_496 | Mean platelet volume | 2.000000e-12 |
| GCST90002403_192 | Red blood cell count | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009100 | social domain measurement |
| EFO:0005762 | neuropathic pain |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Nickel | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| alpha-pinene | increases abundance, affects cotreatment, increases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | increases expression | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| cupric oxide | increases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.