SNX13
gene geneOn this page
Also known as RGS-PX1KIAA0713
Summary
SNX13 (sorting nexin 13, HGNC:21335) is a protein-coding gene on chromosome 7p21.1, encoding Sorting nexin-13 (Q9Y5W8). May be involved in several stages of intracellular trafficking.
This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking.
Source: NCBI Gene 23161 — RefSeq curated summary.
At a glance
- GWAS associations: 42
- Clinical variants (ClinVar): 151 total
- MANE Select transcript:
NM_015132
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21335 |
| Approved symbol | SNX13 |
| Name | sorting nexin 13 |
| Location | 7p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RGS-PX1, KIAA0713 |
| Ensembl gene | ENSG00000071189 |
| Ensembl biotype | protein_coding |
| OMIM | 606589 |
| Entrez | 23161 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 16 protein_coding, 6 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000409076, ENST00000409604, ENST00000428135, ENST00000444712, ENST00000471744, ENST00000474067, ENST00000475800, ENST00000482558, ENST00000492626, ENST00000494402, ENST00000496855, ENST00000498463, ENST00000611725, ENST00000851062, ENST00000862559, ENST00000862560, ENST00000862561, ENST00000862562, ENST00000862563, ENST00000862564, ENST00000939179, ENST00000959594, ENST00000959595, ENST00000959596, ENST00000959597, ENST00000959598, ENST00000959599
RefSeq mRNA: 7 — MANE Select: NM_015132
NM_001350862, NM_001350863, NM_001350864, NM_001350866, NM_001350867, NM_001350870, NM_015132
CCDS: CCDS47551, CCDS87483
Canonical transcript exons
ENST00000428135 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001901974 | 17940284 | 17940494 |
| ENSE00001943838 | 17790761 | 17794292 |
| ENSE00003464604 | 17798690 | 17798758 |
| ENSE00003475222 | 17834761 | 17834865 |
| ENSE00003478331 | 17801588 | 17801659 |
| ENSE00003513276 | 17830010 | 17830047 |
| ENSE00003542600 | 17868407 | 17868490 |
| ENSE00003552195 | 17875480 | 17875581 |
| ENSE00003553103 | 17796827 | 17796939 |
| ENSE00003562370 | 17826022 | 17826091 |
| ENSE00003562468 | 17891546 | 17891635 |
| ENSE00003564589 | 17839807 | 17840000 |
| ENSE00003569490 | 17814834 | 17814944 |
| ENSE00003589743 | 17803419 | 17803580 |
| ENSE00003596806 | 17875669 | 17875790 |
| ENSE00003613363 | 17850347 | 17850435 |
| ENSE00003617802 | 17834052 | 17834184 |
| ENSE00003623876 | 17850826 | 17850964 |
| ENSE00003635272 | 17893332 | 17893434 |
| ENSE00003641342 | 17873528 | 17873616 |
| ENSE00003647840 | 17821509 | 17821648 |
| ENSE00003650382 | 17816182 | 17816289 |
| ENSE00003653354 | 17799009 | 17799154 |
| ENSE00003662354 | 17897334 | 17897446 |
| ENSE00003678596 | 17890363 | 17890484 |
| ENSE00003694330 | 17845595 | 17845694 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 95.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.9218 / max 342.1206, expressed in 1817 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82923 | 29.2867 | 1817 |
| 82918 | 1.2728 | 588 |
| 82922 | 0.9761 | 613 |
| 82921 | 0.3863 | 171 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 95.92 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.22 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.30 | gold quality |
| male germ cell | CL:0000015 | 93.85 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.29 | gold quality |
| tibia | UBERON:0000979 | 92.22 | gold quality |
| endothelial cell | CL:0000115 | 91.55 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.86 | gold quality |
| urethra | UBERON:0000057 | 90.73 | gold quality |
| secondary oocyte | CL:0000655 | 90.15 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.14 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.14 | gold quality |
| lower lobe of lung | UBERON:0008949 | 89.87 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.78 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 89.56 | gold quality |
| deltoid | UBERON:0001476 | 89.43 | silver quality |
| rectum | UBERON:0001052 | 89.41 | gold quality |
| parietal lobe | UBERON:0001872 | 89.33 | gold quality |
| caput epididymis | UBERON:0004358 | 89.23 | gold quality |
| biceps brachii | UBERON:0001507 | 89.16 | gold quality |
| muscle of leg | UBERON:0001383 | 89.09 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.07 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.98 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.96 | gold quality |
| corpus callosum | UBERON:0002336 | 88.96 | gold quality |
| cauda epididymis | UBERON:0004360 | 88.85 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.76 | gold quality |
| upper leg skin | UBERON:0004262 | 88.70 | gold quality |
| skin of hip | UBERON:0001554 | 88.58 | gold quality |
| muscle organ | UBERON:0001630 | 88.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
194 targeting SNX13, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
Literature-anchored findings (GeneRIF, showing 1)
- CRISPR screens for lipid regulators reveal a role for ER-bound SNX13 in lysosomal cholesterol export. (PMID:34936700)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snx13 | ENSDARG00000013828 |
| mus_musculus | Snx13 | ENSMUSG00000020590 |
| rattus_norvegicus | Snx13 | ENSRNOG00000004186 |
| caenorhabditis_elegans | WBGENE00013803 |
Paralogs (3): SNX25 (ENSG00000109762), SNX19 (ENSG00000120451), SNX14 (ENSG00000135317)
Protein
Protein identifiers
Sorting nexin-13 — Q9Y5W8 (reviewed: Q9Y5W8)
Alternative names: RGS domain- and PHOX domain-containing protein, RGS-PX1
All UniProt accessions (5): Q9Y5W8, A0A087WUZ7, F8W8A9, F8WB11, Q9NSH0
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in several stages of intracellular trafficking. May play a role in endosome homeostasis. Acts as a GAP for Galphas.
Subcellular location. Early endosome membrane.
Domain organisation. The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the sorting nexin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y5W8-1 | 1 | yes |
| Q9Y5W8-2 | 2 |
RefSeq proteins (7): NP_001337791, NP_001337792, NP_001337793, NP_001337795, NP_001337796, NP_001337799, NP_055947* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001683 | PX_dom | Domain |
| IPR003114 | Phox_assoc | Domain |
| IPR013937 | Sorting_nexin_C | Domain |
| IPR016137 | RGS | Domain |
| IPR036305 | RGS_sf | Homologous_superfamily |
| IPR036871 | PX_dom_sf | Homologous_superfamily |
| IPR037437 | SNX13_PX | Domain |
| IPR037896 | SNX13_RGS | Domain |
| IPR044926 | RGS_subdomain_2 | Homologous_superfamily |
Pfam: PF00615, PF00787, PF02194, PF08628
UniProt features (22 total): helix 8, binding site 4, domain 3, turn 2, chain 1, sequence conflict 1, strand 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7WF6 | X-RAY DIFFRACTION | 3.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y5W8-F1 | 76.68 | 0.29 |
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 (4): 612; 614; 639; 653
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
FREAC2_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_REGULATION_OF_GTPASE_ACTIVITY, IVANOVA_HEMATOPOIESIS_MATURE_CELL, AREB6_01, YY1_Q6, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, YY1_02, KMCATNNWGGA_UNKNOWN, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, FREAC4_01
GO Biological Process (4): intracellular protein transport (GO:0006886), negative regulation of signal transduction (GO:0009968), positive regulation of GTPase activity (GO:0043547), protein transport (GO:0015031)
GO Molecular Function (3): phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol binding (GO:0035091), lipid binding (GO:0008289)
GO Cellular Component (4): early endosome (GO:0005769), early endosome membrane (GO:0031901), endosome (GO:0005768), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| signal transduction | 1 |
| regulation of signal transduction | 1 |
| negative regulation of cell communication | 1 |
| negative regulation of signaling | 1 |
| negative regulation of response to stimulus | 1 |
| GTPase activity | 1 |
| regulation of GTPase activity | 1 |
| positive regulation of hydrolase activity | 1 |
| transport | 1 |
| establishment of protein localization | 1 |
| phosphatidylinositol phosphate binding | 1 |
| anion binding | 1 |
| binding | 1 |
| endosome | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1110 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNX13 | SERPINE2 | P07093 | 812 |
| SNX13 | SAXO6 | Q8TC05 | 615 |
| SNX13 | SNX17 | Q15036 | 610 |
| SNX13 | SUCLG1 | P53597 | 583 |
| SNX13 | BZW2 | Q9Y6E2 | 560 |
| SNX13 | SNX27 | Q96L92 | 559 |
| SNX13 | SNX2 | P82862 | 555 |
| SNX13 | SNX3 | O60493 | 547 |
| SNX13 | SNX1 | Q13596 | 544 |
| SNX13 | ANKMY2 | Q8IV38 | 542 |
| SNX13 | SNX14 | Q9Y5W7 | 539 |
| SNX13 | HGS | O14964 | 533 |
| SNX13 | RGS7 | P49802 | 531 |
| SNX13 | RGS21 | Q2M5E4 | 531 |
| SNX13 | RGS13 | O14921 | 521 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN2 | TSPAN3 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC6A8 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| SNX14 | SNX13 | psi-mi:“MI:0915”(physical association) | 0.400 |
| G6PC1 | SNX13 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SNX13 | NR1I3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KLF15 | SNX13 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SNX13 | TDP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| TPRA1 | BMPR1B | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN1 | TLCD2 | psi-mi:“MI:0914”(association) | 0.350 |
| IFITM3 | PRAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN2 | TPP1 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR1B | SCAMP2 | psi-mi:“MI:0914”(association) | 0.350 |
| ANKRD9 | UBB | psi-mi:“MI:0914”(association) | 0.350 |
| CXCR4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN2 | GPD2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC19A2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A7 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A11 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A12 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A13 | SPTLC2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC6A4 | RER1 | psi-mi:“MI:0914”(association) | 0.350 |
| KRAS | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| FMR1 | SNX13 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-RNA), SNX13 (Proximity Label-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), SNX13 (Affinity Capture-MS), GNAS (Reconstituted Complex)
ESM2 similar proteins: A0A8I6A2H6, A4IG32, A5D7A0, B1H2N3, D2HZB0, F1LNJ2, O70585, O75643, O88456, P04574, P04632, P06813, P07090, P13135, P22676, P23092, P46940, P47728, Q08331, Q0IIL1, Q1RMX9, Q3ZBY3, Q4FZY0, Q4KUS2, Q4R518, Q5PPL2, Q5RDF9, Q5RDI4, Q62768, Q64537, Q6NWD4, Q6P4T2, Q6P6Q9, Q6PHS6, Q7KZ85, Q86XE3, Q8C079, Q8VCX5, Q8WWF8, Q96C19
Diamond homologs: P40959, P57768, P57769, Q08DX0, Q3MPQ4, Q4FZZ1, Q559T8, Q5AG56, Q5PNP1, Q5R6Q7, Q5R7A7, Q5R903, Q7Z7A4, Q8BHY8, Q8BX57, Q8C080, Q8R4V0, Q8TEQ0, Q96BR1, Q9D3S3, Q9ERE3, Q9FG38, Q9Y5W7, Q9Y5W8, Q05B62, Q13596, Q4R503, Q6BIS2, Q99N27, Q9WV80, A1QZ05, B1AVY7, Q2KHV6, Q54TC3, Q54WZ5, Q6CUC4, Q6PHS6, Q75CC3, Q8CFD4, Q8IPH9
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 40 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| amino acid transport | 5 | 42.2× | 2e-05 |
| sodium ion transmembrane transport | 5 | 27.4× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
151 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 106 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5424 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:17796938:CT:C | acceptor_gain | 1.0000 |
| 7:17796940:C:CC | acceptor_gain | 1.0000 |
| 7:17799003:TGCTA:T | donor_loss | 1.0000 |
| 7:17799004:GCTAC:G | donor_loss | 1.0000 |
| 7:17799005:CTACC:C | donor_loss | 1.0000 |
| 7:17799006:TA:T | donor_loss | 1.0000 |
| 7:17799007:A:C | donor_loss | 1.0000 |
| 7:17799011:A:AC | donor_gain | 1.0000 |
| 7:17799033:G:C | donor_gain | 1.0000 |
| 7:17799067:T:TA | donor_gain | 1.0000 |
| 7:17799071:TCGCA:T | donor_gain | 1.0000 |
| 7:17799153:ACC:A | acceptor_loss | 1.0000 |
| 7:17799156:T:A | acceptor_loss | 1.0000 |
| 7:17801582:A:C | donor_gain | 1.0000 |
| 7:17801582:ACTC:A | donor_loss | 1.0000 |
| 7:17801584:TCAC:T | donor_loss | 1.0000 |
| 7:17801586:A:AC | donor_gain | 1.0000 |
| 7:17801587:C:CG | donor_gain | 1.0000 |
| 7:17801587:CA:C | donor_gain | 1.0000 |
| 7:17801587:CAT:C | donor_gain | 1.0000 |
| 7:17801587:CATT:C | donor_gain | 1.0000 |
| 7:17801587:CATTA:C | donor_gain | 1.0000 |
| 7:17801656:GCAC:G | acceptor_gain | 1.0000 |
| 7:17801657:CAC:C | acceptor_gain | 1.0000 |
| 7:17801657:CACC:C | acceptor_gain | 1.0000 |
| 7:17801660:C:CC | acceptor_gain | 1.0000 |
| 7:17801661:T:C | acceptor_loss | 1.0000 |
| 7:17801666:A:AC | acceptor_gain | 1.0000 |
| 7:17801666:A:C | acceptor_gain | 1.0000 |
| 7:17814829:CTTA:C | donor_gain | 1.0000 |
AlphaMissense
6345 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000018529 (7:17845883 A>T), RS1000036935 (7:17920577 G>A), RS1000055823 (7:17849941 A>G), RS1000093182 (7:17934042 G>T), RS1000095738 (7:17882676 T>C), RS1000099832 (7:17888531 A>T), RS1000100151 (7:17810382 A>G), RS1000145730 (7:17822089 A>G), RS1000165215 (7:17823643 A>T), RS1000171214 (7:17934464 G>A), RS1000173402 (7:17899460 A>G), RS1000222651 (7:17815503 C>T), RS1000281483 (7:17855461 C>G), RS1000307471 (7:17807083 G>T), RS1000313056 (7:17940468 A>C,G)
Disease associations
OMIM: gene MIM:606589 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
42 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002147_21 | Fibrinogen | 5.000000e-10 |
| GCST002223_54 | HDL cholesterol | 9.000000e-12 |
| GCST003123_17 | Severe influenza A (H1N1) infection | 7.000000e-11 |
| GCST004121_31 | Fibrinogen levels | 1.000000e-12 |
| GCST004122_5 | Fibrinogen levels | 1.000000e-11 |
| GCST004232_37 | HDL cholesterol levels | 2.000000e-08 |
| GCST004232_48 | HDL cholesterol levels | 1.000000e-16 |
| GCST006013_2 | Lactate dehydrogenase levels | 5.000000e-09 |
| GCST006014_13 | Creatine kinase levels | 2.000000e-09 |
| GCST006611_24 | HDL cholesterol | 2.000000e-24 |
| GCST006979_328 | Heel bone mineral density | 6.000000e-10 |
| GCST008070_134 | HDL cholesterol levels | 2.000000e-06 |
| GCST008070_64 | HDL cholesterol levels | 1.000000e-14 |
| GCST008070_92 | HDL cholesterol levels | 1.000000e-08 |
| GCST008074_89 | Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 7.000000e-06 |
| GCST008075_162 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 1.000000e-28 |
| GCST008075_220 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-08 |
| GCST008075_31 | HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-19 |
| GCST008084_124 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-07 |
| GCST008084_218 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 4.000000e-29 |
| GCST008084_41 | HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 3.000000e-22 |
| GCST008085_153 | HDL cholesterol levels in current drinkers | 2.000000e-10 |
| GCST008085_64 | HDL cholesterol levels in current drinkers | 8.000000e-18 |
| GCST008085_90 | HDL cholesterol levels in current drinkers | 3.000000e-07 |
| GCST008087_10 | Triglyceride levels in current drinkers | 9.000000e-06 |
| GCST008529_48 | Tea consumption | 7.000000e-07 |
| GCST009360_3 | LDL cholesterol levels x long total sleep time interaction (1df test) | 3.000000e-06 |
| GCST009366_11 | LDL cholesterol levels x long total sleep time interaction (2df test) | 2.000000e-09 |
| GCST009367_68 | HDL cholesterol levels x short total sleep time interaction (2df test) | 5.000000e-12 |
| GCST009602_62 | Metabolic syndrome | 3.000000e-09 |
EFO canonical traits (18, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:1001488 | influenza A (H1N1) |
| EFO:0004808 | L lactate dehydrogenase measurement |
| EFO:0004534 | creatine kinase measurement |
| EFO:0009270 | heel bone mineral density |
| EFO:0004530 | triglyceride measurement |
| EFO:0004329 | alcohol drinking |
| EFO:0010091 | tea consumption measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0000195 | metabolic syndrome |
| EFO:0004502 | adiponectin measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0008336 | disease progression measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004833 | neutrophil count |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0010099 | chronic widespread pain |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 5 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| torcetrapib | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Decitabine | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Coumestrol | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Hydrogen Peroxide | increases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2KG | HAP1 SNX13 (-) | Cancer cell line | Male |
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.