STX7
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Summary
STX7 (syntaxin 7, HGNC:11442) is a protein-coding gene on chromosome 6q23.2, encoding Syntaxin-7 (O15400). May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles.
The protein encoded by this gene is a syntaxin family membrane receptor involved in vesicle transport. The encoded protein binds alpha-SNAP, an important regulator of transport vesicle fusion. Along with syntaxin 13, this protein plays a role in the ordered fusion of endosomes and lysosomes with the phagosome.
Source: NCBI Gene 8417 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 48 total — 1 likely-pathogenic
- MANE Select transcript:
NM_003569
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11442 |
| Approved symbol | STX7 |
| Name | syntaxin 7 |
| Location | 6q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000079950 |
| Ensembl biotype | protein_coding |
| OMIM | 603217 |
| Entrez | 8417 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000367937, ENST00000367941, ENST00000448348, ENST00000475879, ENST00000862289, ENST00000862290, ENST00000862291, ENST00000862292, ENST00000862293, ENST00000942368, ENST00000942369
RefSeq mRNA: 4 — MANE Select: NM_003569
NM_001326578, NM_001326579, NM_001326580, NM_003569
CCDS: CCDS5153, CCDS87441
Canonical transcript exons
ENST00000367941 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000798744 | 132463993 | 132464075 |
| ENSE00000798746 | 132469951 | 132470047 |
| ENSE00001445973 | 132445867 | 132460850 |
| ENSE00001750391 | 132468403 | 132468475 |
| ENSE00001856918 | 132513007 | 132513116 |
| ENSE00003501102 | 132503446 | 132503588 |
| ENSE00003698784 | 132471463 | 132471600 |
| ENSE00003699060 | 132472282 | 132472375 |
| ENSE00003699492 | 132470574 | 132470626 |
| ENSE00003700055 | 132475593 | 132475662 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 97.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.2144 / max 647.2784, expressed in 1821 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 75598 | 46.2267 | 1821 |
| 75597 | 0.9449 | 463 |
| 75599 | 0.0427 | 18 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 97.99 | gold quality |
| endothelial cell | CL:0000115 | 97.91 | gold quality |
| monocyte | CL:0000576 | 96.69 | gold quality |
| mononuclear cell | CL:0000842 | 96.48 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.42 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.19 | gold quality |
| leukocyte | CL:0000738 | 96.17 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.15 | gold quality |
| tendon | UBERON:0000043 | 95.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.54 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.27 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.92 | gold quality |
| renal glomerulus | UBERON:0000074 | 94.78 | gold quality |
| secondary oocyte | CL:0000655 | 94.71 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 94.58 | gold quality |
| corpus callosum | UBERON:0002336 | 94.54 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.42 | gold quality |
| nephron tubule | UBERON:0001231 | 94.40 | gold quality |
| gall bladder | UBERON:0002110 | 94.19 | gold quality |
| lymph node | UBERON:0000029 | 93.86 | gold quality |
| decidua | UBERON:0002450 | 93.75 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.51 | gold quality |
| globus pallidus | UBERON:0001875 | 93.45 | gold quality |
| prefrontal cortex | UBERON:0000451 | 93.37 | gold quality |
| tonsil | UBERON:0002372 | 93.18 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.18 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 93.07 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 92.94 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.92 | gold quality |
| frontal pole | UBERON:0002795 | 92.65 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 19.00 |
| E-MTAB-6678 | yes | 4.47 |
| E-MTAB-6075 | no | 365.62 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 8)
- syntaxin 7 has a role in the intracellular vacuolation induced by VacA (PMID:12730232)
- Results report that syntaxin 7, syntaxin 8, vti1b and VAMP8 physically and functionally interact with CFTR. (PMID:18570918)
- Palmitoylation-defective syntaxin 7 is selectively retained on the plasma membrane, suggesting that palmitoylation is important for intercompartmental transport of syntaxin 7. (PMID:18980942)
- The expression level of STX7 protein was inversely correlated to tumor stage, suggesting that decreased expression of STX7 is associated with more aggressive tumors. (PMID:19714869)
- data reveal the presence of syntaxin 7 in the membranes of exocytosis-prone granules and phagocytosis-related granules in human neutrophils, and therefore it might play a role in both exocytosis and phagocytosis in human neutrophils (PMID:20170677)
- Data suggest that accumulation of recycling T cell receptors at the immunological synapse is SNARE-dependent and that Stx7-mediated processing of recycling TCRs through endosomes is a prerequisite for the cytolytic function of cytotoxic T lymphocytes. (PMID:21438968)
- Syntaxin 7 contributes to breast cancer cell invasion by promoting invadopodia formation. (PMID:35762511)
- Syntaxin 7 modulates seizure activity in epilepsy. (PMID:37031804)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | stx7l | ENSDARG00000069208 |
| mus_musculus | Stx7 | ENSMUSG00000019998 |
| rattus_norvegicus | Stx7 | ENSRNOG00000015670 |
| drosophila_melanogaster | Syx7 | FBGN0267849 |
| caenorhabditis_elegans | syx-7 | WBGENE00009478 |
Paralogs (12): STX1B (ENSG00000099365), STX4 (ENSG00000103496), STX1A (ENSG00000106089), STX2 (ENSG00000111450), STX12 (ENSG00000117758), STX16 (ENSG00000124222), STX11 (ENSG00000135604), STX17 (ENSG00000136874), STX5 (ENSG00000162236), STX3 (ENSG00000166900), TSNARE1 (ENSG00000171045), STX19 (ENSG00000178750)
Protein
Protein identifiers
Syntaxin-7 — O15400 (reviewed: O15400)
All UniProt accessions (2): O15400, B4DWC2
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes.
Subunit / interactions. Forms a SNARE complex with VTI1B, STX8 and VAMP8 which functions in the homotypic fusion of late endosomes. Component of the SNARE complex composed of STX7, STX8, VAMP7 and VTI1B that is required for heterotypic fusion of late endosomes with lysosomes. Interacts with VPS11, VPS16 and VPS18. Interacts with VPS33A. Interacts with TPC1.
Subcellular location. Early endosome membrane.
Tissue specificity. Highest expression is found in placenta followed by heart, skeletal muscle, kidney and brain. Low expression is found in pancreas, lung and liver.
Similarity. Belongs to the syntaxin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O15400-1 | 1 | yes |
| O15400-2 | 2 |
RefSeq proteins (4): NP_001313507, NP_001313508, NP_001313509, NP_003560* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000727 | T_SNARE_dom | Domain |
| IPR006011 | Syntaxin_N | Domain |
| IPR006012 | Syntaxin/epimorphin_CS | Conserved_site |
| IPR010989 | SNARE | Homologous_superfamily |
| IPR045242 | Syntaxin | Family |
Pfam: PF05739, PF14523
UniProt features (19 total): modified residue 9, topological domain 2, initiator methionine 1, chain 1, splice variant 1, sequence conflict 1, transmembrane region 1, domain 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O15400-F1 | 78.96 | 0.45 |
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 (9): 45, 75, 79, 125, 126, 129, 205, 2, 4
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 291 (showing top):
LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, GOBP_VESICLE_MEDIATED_TRANSPORT, LHX3_01, CHX10_01, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_MEMBRANE_DOCKING
GO Biological Process (9): positive regulation of T cell mediated cytotoxicity (GO:0001916), intracellular protein transport (GO:0006886), vesicle fusion (GO:0006906), obsolete vesicle docking (GO:0048278), organelle localization (GO:0051640), organelle assembly (GO:0070925), positive regulation of receptor localization to synapse (GO:1902685), regulation of protein localization to plasma membrane (GO:1903076), vesicle-mediated transport (GO:0016192)
GO Molecular Function (5): SNARE binding (GO:0000149), SNAP receptor activity (GO:0005484), chloride channel inhibitor activity (GO:0019869), syntaxin binding (GO:0019905), protein binding (GO:0005515)
GO Cellular Component (20): immunological synapse (GO:0001772), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endosome (GO:0005768), early endosome (GO:0005769), late endosome (GO:0005770), plasma membrane (GO:0005886), synaptic vesicle (GO:0008021), endomembrane system (GO:0012505), endocytic vesicle (GO:0030139), SNARE complex (GO:0031201), early endosome membrane (GO:0031901), vesicle (GO:0031982), azurophil granule (GO:0042582), perinuclear region of cytoplasm (GO:0048471), recycling endosome (GO:0055037), extracellular exosome (GO:0070062), tertiary granule (GO:0070820), membrane (GO:0016020), secretory vesicle (GO:0099503)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasmic vesicle | 3 |
| endosome | 3 |
| plasma membrane | 2 |
| cytoplasm | 2 |
| secretory granule | 2 |
| positive regulation of leukocyte mediated cytotoxicity | 1 |
| T cell mediated cytotoxicity | 1 |
| regulation of T cell mediated cytotoxicity | 1 |
| positive regulation of T cell mediated immunity | 1 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| vesicle organization | 1 |
| vesicle-mediated transport | 1 |
| organelle membrane fusion | 1 |
| localization | 1 |
| organelle organization | 1 |
| cellular component assembly | 1 |
| positive regulation of biological process | 1 |
| receptor localization to synapse | 1 |
| regulation of receptor localization to synapse | 1 |
| protein localization to plasma membrane | 1 |
| regulation of protein localization to cell periphery | 1 |
| regulation of protein localization to membrane | 1 |
| transport | 1 |
| cellular process | 1 |
| protein binding | 1 |
| protein-macromolecule adaptor activity | 1 |
| membrane fusion | 1 |
| fusogenic activity | 1 |
| chloride channel activity | 1 |
| ion channel inhibitor activity | 1 |
| chloride channel regulator activity | 1 |
| SNARE binding | 1 |
| binding | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
1814 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STX7 | STX8 | Q9UNK0 | 999 |
| STX7 | VAMP8 | Q9BV40 | 998 |
| STX7 | VAMP7 | P51809 | 997 |
| STX7 | VTI1B | Q9UEU0 | 997 |
| STX7 | SNAP29 | O95721 | 991 |
| STX7 | YKT6 | O15498 | 990 |
| STX7 | STX6 | O43752 | 949 |
| STX7 | SNAP23 | O00161 | 891 |
| STX7 | MOXD1 | Q6UVY6 | 859 |
| STX7 | VPS33A | Q96AX1 | 836 |
| STX7 | TAAR5 | O14804 | 833 |
| STX7 | VAMP3 | Q15836 | 787 |
| STX7 | STX17 | P56962 | 766 |
| STX7 | NAPA | P54920 | 760 |
| STX7 | BET1 | O15155 | 758 |
IntAct
269 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STX7 | STX4 | psi-mi:“MI:0915”(physical association) | 0.830 |
| STX4 | STX7 | psi-mi:“MI:0915”(physical association) | 0.830 |
| STX7 | LSMEM2 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VAMP8 | STX7 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TMPRSS2 | STX7 | psi-mi:“MI:0915”(physical association) | 0.600 |
| STX7 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | REEP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | ELOVL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | CYBRD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | JAGN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | EBP | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | RETREG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | ANKS6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | STX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX7 | STX1A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (954): STX7 (Two-hybrid), STX7 (Affinity Capture-MS), STX7 (Affinity Capture-Western), STX7 (Affinity Capture-Western), STX7 (Affinity Capture-Western), STX7 (Affinity Capture-Western), STX7 (Affinity Capture-MS), STX7 (Affinity Capture-MS), YKT6 (Affinity Capture-MS), GOLGA2 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), VPS45 (Affinity Capture-MS), NAPA (Affinity Capture-MS), STX4 (Affinity Capture-MS)
ESM2 similar proteins: A8WVD0, O15400, O16000, O35526, O70257, O70439, P32850, P32851, P32856, P32867, P39926, P50279, P61264, P61265, P61266, P61267, P61268, P70452, Q00262, Q08849, Q08850, Q0VCI2, Q12846, Q13277, Q16623, Q16932, Q20024, Q24547, Q3SWZ3, Q3ZBT5, Q42374, Q59YF0, Q5R4L2, Q5R602, Q5TX47, Q64704, Q7XIE2, Q8N4C7, Q8R1Q0, Q8VZU2
Diamond homologs: A8WVD0, G3V7P1, O14662, O15400, O16000, O35526, O64791, O65359, O70257, O70439, O94651, P32850, P32851, P32854, P32856, P50279, P61264, P61265, P61266, P61267, P61268, P70452, P91409, Q00262, Q08144, Q08849, Q08850, Q12846, Q13277, Q16623, Q16932, Q24547, Q3SWZ3, Q3ZBT5, Q42374, Q54JY7, Q54X86, Q5R4L2, Q5R602, Q5RBW6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 98 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 |
|---|---|---|---|
| trans-Golgi Network Vesicle Budding | 7 | 29.1× | 1e-06 |
| Retrograde transport at the Trans-Golgi-Network | 5 | 18.0× | 4e-04 |
| ER-Phagosome pathway | 5 | 10.6× | 1e-03 |
| COPI-mediated anterograde transport | 5 | 9.0× | 2e-03 |
| Membrane Trafficking | 8 | 4.9× | 2e-03 |
| Vesicle-mediated transport | 8 | 4.6× | 2e-03 |
| Neutrophil degranulation | 10 | 3.8× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| exocytosis | 10 | 18.7× | 7e-08 |
| intracellular protein transport | 9 | 7.2× | 6e-04 |
| protein transport | 10 | 5.4× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 32 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 218904 | NM_003569.3(STX7):c.159A>C (p.Gln53His) | Likely pathogenic |
SpliceAI
1864 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:132463990:TACCT:T | donor_loss | 1.0000 |
| 6:132463991:A:AC | donor_gain | 1.0000 |
| 6:132463991:A:AT | donor_loss | 1.0000 |
| 6:132463992:C:A | donor_loss | 1.0000 |
| 6:132463992:C:CC | donor_gain | 1.0000 |
| 6:132464072:CTAT:C | acceptor_gain | 1.0000 |
| 6:132464073:TAT:T | acceptor_gain | 1.0000 |
| 6:132464074:AT:A | acceptor_gain | 1.0000 |
| 6:132464076:C:CC | acceptor_gain | 1.0000 |
| 6:132464077:T:C | acceptor_loss | 1.0000 |
| 6:132464078:G:C | acceptor_gain | 1.0000 |
| 6:132464083:A:AC | acceptor_gain | 1.0000 |
| 6:132464083:A:C | acceptor_gain | 1.0000 |
| 6:132469949:A:AC | donor_gain | 1.0000 |
| 6:132469950:C:CC | donor_gain | 1.0000 |
| 6:132469950:CTT:C | donor_gain | 1.0000 |
| 6:132469952:T:TA | donor_gain | 1.0000 |
| 6:132469959:G:A | donor_gain | 1.0000 |
| 6:132470043:TTTGG:T | acceptor_gain | 1.0000 |
| 6:132470048:C:CC | acceptor_gain | 1.0000 |
| 6:132471455:ATACT:A | donor_loss | 1.0000 |
| 6:132471456:TACTT:T | donor_loss | 1.0000 |
| 6:132471460:TACAG:T | donor_gain | 1.0000 |
| 6:132471461:A:AC | donor_gain | 1.0000 |
| 6:132471461:ACAGA:A | donor_gain | 1.0000 |
| 6:132471462:C:CC | donor_gain | 1.0000 |
| 6:132471462:CA:C | donor_gain | 1.0000 |
| 6:132471462:CAG:C | donor_gain | 1.0000 |
| 6:132471462:CAGA:C | donor_gain | 1.0000 |
| 6:132471462:CAGAC:C | donor_gain | 1.0000 |
AlphaMissense
1729 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:132464028:C:G | A220P | 0.999 |
| 6:132464049:C:G | A213P | 0.999 |
| 6:132464064:C:G | A208P | 0.999 |
| 6:132469955:A:G | L178P | 0.999 |
| 6:132471519:C:G | A111P | 0.999 |
| 6:132471548:A:G | L101P | 0.999 |
| 6:132464007:C:G | A227P | 0.998 |
| 6:132464015:A:G | L224P | 0.998 |
| 6:132464069:A:T | I206K | 0.998 |
| 6:132468475:C:G | A180P | 0.998 |
| 6:132471516:C:G | A112P | 0.998 |
| 6:132472343:G:T | A63D | 0.998 |
| 6:132468446:A:C | F189L | 0.997 |
| 6:132468446:A:T | F189L | 0.997 |
| 6:132468448:A:G | F189L | 0.997 |
| 6:132464069:A:C | I206R | 0.996 |
| 6:132471560:A:G | F97S | 0.996 |
| 6:132471575:C:G | R92P | 0.996 |
| 6:132472335:T:G | T66P | 0.996 |
| 6:132472344:C:G | A63P | 0.996 |
| 6:132472346:A:G | L62P | 0.996 |
| 6:132468438:A:G | L192S | 0.995 |
| 6:132468450:A:T | I188K | 0.995 |
| 6:132472334:G:T | T66K | 0.995 |
| 6:132464004:C:G | A228P | 0.994 |
| 6:132471527:T:G | Q108P | 0.994 |
| 6:132472334:G:C | T66R | 0.994 |
| 6:132464036:A:T | V217D | 0.993 |
| 6:132468405:A:T | I203K | 0.993 |
| 6:132471536:T:G | Q105P | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000006324 (6:132473023 G>A), RS1000006471 (6:132471108 C>G), RS1000153264 (6:132474222 T>C,G), RS1000154141 (6:132513051 C>T), RS1000174429 (6:132483118 G>A), RS1000181478 (6:132504444 G>C), RS1000205121 (6:132456419 G>A), RS1000306471 (6:132488695 G>C), RS1000359589 (6:132494705 C>G,T), RS1000422172 (6:132488966 C>T), RS1000428395 (6:132460160 T>C), RS1000492281 (6:132510806 G>A,T), RS1000497199 (6:132464497 G>T), RS1000604018 (6:132509041 C>A,G,T), RS1000642966 (6:132458035 A>T)
Disease associations
OMIM: gene MIM:603217 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004611_67 | High light scatter reticulocyte count | 7.000000e-10 |
| GCST004612_26 | High light scatter reticulocyte percentage of red cells | 2.000000e-09 |
| GCST004619_84 | Reticulocyte fraction of red cells | 3.000000e-09 |
| GCST004621_106 | Red cell distribution width | 5.000000e-13 |
| GCST004622_198 | Reticulocyte count | 2.000000e-09 |
| GCST011739_3 | Cutaneous leishmaniasis | 6.000000e-06 |
| GCST90002385_167 | High light scatter reticulocyte count | 5.000000e-30 |
| GCST90002386_113 | High light scatter reticulocyte percentage of red cells | 5.000000e-29 |
| GCST90002387_291 | Immature fraction of reticulocytes | 5.000000e-12 |
| GCST90002397_481 | Mean spheric corpuscular volume | 8.000000e-12 |
| GCST90002404_271 | Red cell distribution width | 1.000000e-23 |
| GCST90002405_207 | Reticulocyte count | 1.000000e-28 |
| GCST90002406_226 | Reticulocyte fraction of red cells | 5.000000e-27 |
| GCST90020024_58 | A body shape index | 2.000000e-08 |
| GCST90020025_533 | Waist-to-hip ratio adjusted for BMI | 2.000000e-08 |
| GCST90020027_1052 | Waist-hip index | 7.000000e-09 |
| GCST90020029_1445 | Waist circumference adjusted for body mass index | 3.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0009188 | Red cell distribution width |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
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 | affects expression, decreases methylation, increases expression | 4 |
| sodium arsenite | decreases expression, increases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| ciglitazone | affects binding, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one | affects expression, affects reaction | 1 |
| K 7174 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants, Occupational | decreases 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): cutaneous leishmaniasis