STRIP1
gene geneOn this page
Also known as FLJ14743KIAA1761FAR11A
Summary
STRIP1 (striatin interacting protein 1, HGNC:25916) is a protein-coding gene on chromosome 1p13.3, encoding Striatin-interacting protein 1 (Q5VSL9). Plays a role in the regulation of cell morphology and cytoskeletal organization. It is a selective cancer dependency (DepMap: 36.1% of cell lines).
This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 85369 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 125 total
- Cancer dependency (DepMap): dependent in 36.1% of screened cell lines
- MANE Select transcript:
NM_033088
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25916 |
| Approved symbol | STRIP1 |
| Name | striatin interacting protein 1 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14743, KIAA1761, FAR11A |
| Ensembl gene | ENSG00000143093 |
| Ensembl biotype | protein_coding |
| OMIM | 617918 |
| Entrez | 85369 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 13 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay
ENST00000369795, ENST00000369796, ENST00000461054, ENST00000473429, ENST00000485775, ENST00000489059, ENST00000535003, ENST00000539541, ENST00000540970, ENST00000906338, ENST00000906339, ENST00000906340, ENST00000906341, ENST00000906342, ENST00000906343, ENST00000930842, ENST00000930843, ENST00000950691, ENST00000950692, ENST00000950693
RefSeq mRNA: 2 — MANE Select: NM_033088
NM_001270768, NM_033088
CCDS: CCDS30798, CCDS59197
Canonical transcript exons
ENST00000369795 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001850618 | 110034624 | 110034817 |
| ENSE00003461663 | 110050956 | 110051060 |
| ENSE00003463201 | 110047542 | 110047616 |
| ENSE00003498567 | 110051683 | 110051887 |
| ENSE00003508856 | 110044840 | 110044905 |
| ENSE00003515653 | 110049460 | 110049560 |
| ENSE00003535290 | 110041734 | 110041861 |
| ENSE00003565721 | 110041536 | 110041642 |
| ENSE00003590269 | 110040635 | 110040703 |
| ENSE00003594631 | 110043639 | 110043856 |
| ENSE00003602797 | 110046680 | 110046751 |
| ENSE00003612165 | 110049112 | 110049238 |
| ENSE00003620778 | 110050343 | 110050409 |
| ENSE00003633825 | 110053665 | 110054641 |
| ENSE00003635541 | 110045015 | 110045078 |
| ENSE00003636515 | 110047772 | 110047869 |
| ENSE00003643818 | 110043088 | 110043270 |
| ENSE00003696781 | 110039172 | 110039306 |
| ENSE00003697226 | 110038683 | 110038757 |
| ENSE00003698529 | 110039395 | 110039515 |
| ENSE00003700076 | 110037891 | 110037960 |
Expression profiles
Bgee: expression breadth ubiquitous, 236 present calls, max score 94.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.7221 / max 105.4209, expressed in 1809 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4505 | 19.7221 | 1809 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 94.76 | gold quality |
| ileal mucosa | UBERON:0000331 | 94.22 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.21 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.92 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.74 | gold quality |
| granulocyte | CL:0000094 | 91.72 | gold quality |
| cerebellum | UBERON:0002037 | 91.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 91.35 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.94 | gold quality |
| body of uterus | UBERON:0009853 | 90.93 | gold quality |
| bone marrow cell | CL:0002092 | 90.72 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.71 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.50 | gold quality |
| ventricular zone | UBERON:0003053 | 90.46 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.33 | gold quality |
| left ovary | UBERON:0002119 | 90.31 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.28 | gold quality |
| endocervix | UBERON:0000458 | 89.95 | gold quality |
| right ovary | UBERON:0002118 | 89.89 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.81 | gold quality |
| spleen | UBERON:0002106 | 89.73 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.66 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.52 | gold quality |
| left uterine tube | UBERON:0001303 | 89.50 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.30 | gold quality |
| ectocervix | UBERON:0012249 | 89.12 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.06 | gold quality |
| skin of leg | UBERON:0001511 | 89.04 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
51 targeting STRIP1, 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-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-103A-1-5P | 99.39 | 67.78 | 1545 |
| HSA-MIR-103A-2-5P | 99.39 | 67.72 | 1577 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 36.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- this study propose that the STRIPAK complex, FAM40A, FAM40B and STRN3, regulates the mode of cancer cell migration by controlling the activity of MST3 and 4, which locally coordinate the phosphorylation of ERM proteins and inhibit the dephosphorylation of MLC leading to increased actin-membrane linkage. (PMID:25531779)
- STRIP1 is required for mesenchymal cell migration and is enriched in cellular protrusions in mesenchymal migrating cells. (PMID:29203676)
- These results demonstrate the importance of the FAM40 proteins for endothelial cell physiology, and suggest that they act as part of the CCM3-containing STRIPAK complex. (PMID:30509168)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | strip1 | ENSDARG00000074084 |
| mus_musculus | Strip1 | ENSMUSG00000014601 |
| rattus_norvegicus | Strip1 | ENSRNOG00000018293 |
| drosophila_melanogaster | Strip | FBGN0035437 |
| caenorhabditis_elegans | WBGENE00017349 |
Paralogs (1): STRIP2 (ENSG00000128578)
Protein
Protein identifiers
Striatin-interacting protein 1 — Q5VSL9 (reviewed: Q5VSL9)
Alternative names: Protein FAM40A
All UniProt accessions (1): Q5VSL9
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation.
Subunit / interactions. Part of the core of STRIPAK complexes composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26. The STRIPAK complex can be extended by adapter proteins such as SLMAP:SIKE1, CTTNBP2 or CTTNBP2NL. Interacts with CDC42BPB. Interacts with CTTNBP2NL.
Subcellular location. Cytoplasm.
Similarity. Belongs to the STRIP family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VSL9-1 | 1 | yes |
| Q5VSL9-2 | 2 | |
| Q5VSL9-3 | 3 | |
| Q5VSL9-4 | 4 |
RefSeq proteins (2): NP_001257697, NP_149079* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012486 | Far11/STRP_N | Domain |
| IPR021819 | Far11/STRP_C | Domain |
| IPR040185 | Far11/STRP | Family |
Pfam: PF07923, PF11882
UniProt features (68 total): helix 33, splice variant 7, strand 6, modified residue 5, compositionally biased region 5, region of interest 3, mutagenesis site 3, sequence conflict 2, turn 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7K36 | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VSL9-F1 | 81.27 | 0.57 |
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 (5): 59, 335, 339, 788, 1
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 131–134 | decreased formation of stripak core complex. |
| 427 | decreased interaction with other stripak core complex components. decreased inhibition of hippo signaling. |
| 744 | decreased interaction with other stripak core complex components. decreased inhibition of hippo signaling. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 142 (showing top):
RNGTGGGC_UNKNOWN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_HIPPO_SIGNALING, GOMF_GTPASE_BINDING, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, ATF3_Q6, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, YY1_01, GOBP_CORTICAL_CYTOSKELETON_ORGANIZATION, AR_Q2, TGGAAA_NFAT_Q4_01, YATGNWAAT_OCT_C, GOMF_KINASE_BINDING, GOBP_REGULATION_OF_HIPPO_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_HIPPO_SIGNALING
GO Biological Process (4): cytoskeleton organization (GO:0007010), regulation of cell morphogenesis (GO:0022604), cortical actin cytoskeleton organization (GO:0030866), negative regulation of hippo signaling (GO:0035331)
GO Molecular Function (4): protein kinase binding (GO:0019901), protein-macromolecule adaptor activity (GO:0030674), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), extracellular exosome (GO:0070062), FAR/SIN/STRIPAK complex (GO:0090443), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| organelle organization | 1 |
| cell morphogenesis | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| actin cytoskeleton organization | 1 |
| cortical cytoskeleton organization | 1 |
| hippo signaling | 1 |
| regulation of hippo signaling | 1 |
| negative regulation of intracellular signal transduction | 1 |
| kinase binding | 1 |
| protein binding | 1 |
| molecular adaptor activity | 1 |
| GTPase binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
864 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STRIP1 | MOB4 | Q9Y3A3 | 990 |
| STRIP1 | PPP2CA | P05323 | 967 |
| STRIP1 | PDCD10 | Q9BUL8 | 956 |
| STRIP1 | STRN | O43815 | 955 |
| STRIP1 | PPP2R1A | P30153 | 939 |
| STRIP1 | STK26 | Q9P289 | 924 |
| STRIP1 | STK25 | O00506 | 899 |
| STRIP1 | SLMAP | Q14BN4 | 870 |
| STRIP1 | CTTNBP2NL | Q9P2B4 | 864 |
| STRIP1 | STRN3 | Q13033 | 852 |
| STRIP1 | STRN4 | Q9NRL3 | 834 |
| STRIP1 | STK24 | Q9Y6E0 | 806 |
| STRIP1 | CTTNBP2 | Q8WZ74 | 778 |
| STRIP1 | SIKE1 | Q9BRV8 | 763 |
| STRIP1 | MAP4K2 | Q12851 | 722 |
IntAct
149 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PPP2R1A | PPP2CA | psi-mi:“MI:0914”(association) | 0.990 |
| PDCD10 | STK25 | psi-mi:“MI:0914”(association) | 0.980 |
| STRN3 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.920 |
| STRIP1 | PPP2CA | psi-mi:“MI:0915”(physical association) | 0.900 |
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| STK24 | STK25 | psi-mi:“MI:0914”(association) | 0.890 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STRN3 | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| CTTNBP2NL | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STRIP1 | PPP2CB | psi-mi:“MI:0915”(physical association) | 0.870 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| STRIP1 | PPP2CB | psi-mi:“MI:0914”(association) | 0.870 |
| STK26 | STRN | psi-mi:“MI:0914”(association) | 0.860 |
| PRDM14 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.860 |
| PPP2CA | STRN | psi-mi:“MI:0914”(association) | 0.840 |
BioGRID (209): STRIP1 (Affinity Capture-RNA), STRIP1 (Affinity Capture-RNA), STRIP1 (Affinity Capture-RNA), STRIP1 (Affinity Capture-RNA), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), SLMAP (Co-fractionation), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS), STRIP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A4X1TB62, A4VCH4, G3V7Q0, O14795, O35841, O43237, O70585, P23116, P48553, Q0P5J8, Q14152, Q15542, Q1JU68, Q3TLI0, Q3UHE1, Q4R5P6, Q5R660, Q5R7S4, Q5R7U7, Q5RE09, Q5RE70, Q5VSL9, Q5XI83, Q658Y4, Q68E01, Q6IQ26, Q6PAL8, Q6PDL0, Q6TEP1, Q6WKZ8, Q7SYD9, Q7TPD0, Q8BIK4, Q8BWQ6, Q8C079, Q8C092, Q8C9H6, Q8CBY8, Q8IWV8, Q8K400
Diamond homologs: Q0P5J8, Q5R7S4, Q5VSL9, Q803T2, Q8C079, Q8C9H6, Q9GLZ5, Q9ULQ0, Q54IL2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 |
|---|---|---|---|
| Degradation of beta-catenin by the destruction complex | 7 | 20.2× | 2e-05 |
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 6 | 11.7× | 1e-03 |
| EML4 and NUDC in mitotic spindle formation | 6 | 9.3× | 1e-03 |
| Separation of Sister Chromatids | 9 | 9.1× | 8e-05 |
| Resolution of Sister Chromatid Cohesion | 6 | 8.7× | 1e-03 |
| Mitotic Prometaphase | 7 | 8.1× | 1e-03 |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 5 | 8.1× | 5e-03 |
| RHO GTPases Activate Formins | 6 | 7.8× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of hippo signaling | 7 | 51.7× | 3e-08 |
| regulation of MAPK cascade | 5 | 24.0× | 3e-04 |
| protein autophosphorylation | 9 | 13.8× | 6e-06 |
| protein phosphorylation | 10 | 7.2× | 3e-04 |
| intracellular signal transduction | 12 | 4.8× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
125 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 95 |
| Likely benign | 1 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3866 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:110034813:CAGAG:C | donor_loss | 1.0000 |
| 1:110034815:GAG:G | donor_gain | 1.0000 |
| 1:110034816:AGG:A | donor_loss | 1.0000 |
| 1:110034817:GGTC:G | donor_loss | 1.0000 |
| 1:110038757:GGTG:G | donor_loss | 1.0000 |
| 1:110038758:G:GG | donor_gain | 1.0000 |
| 1:110038758:GTG:G | donor_loss | 1.0000 |
| 1:110038759:T:A | donor_loss | 1.0000 |
| 1:110039162:T:TA | acceptor_gain | 1.0000 |
| 1:110039167:T:TA | acceptor_gain | 1.0000 |
| 1:110039170:A:AG | acceptor_gain | 1.0000 |
| 1:110039170:AGT:A | acceptor_gain | 1.0000 |
| 1:110039171:G:GT | acceptor_gain | 1.0000 |
| 1:110039171:GT:G | acceptor_gain | 1.0000 |
| 1:110039171:GTG:G | acceptor_gain | 1.0000 |
| 1:110039171:GTGA:G | acceptor_gain | 1.0000 |
| 1:110039171:GTGAC:G | acceptor_gain | 1.0000 |
| 1:110039246:G:GT | donor_gain | 1.0000 |
| 1:110039260:G:GT | donor_gain | 1.0000 |
| 1:110039306:GGTAT:G | donor_gain | 1.0000 |
| 1:110039512:TAGA:T | donor_gain | 1.0000 |
| 1:110039514:GA:G | donor_gain | 1.0000 |
| 1:110039516:G:GG | donor_gain | 1.0000 |
| 1:110040559:ATT:A | acceptor_gain | 1.0000 |
| 1:110040561:T:A | acceptor_gain | 1.0000 |
| 1:110040600:T:TA | acceptor_gain | 1.0000 |
| 1:110041638:GCTGG:G | donor_gain | 1.0000 |
| 1:110041639:C:G | donor_gain | 1.0000 |
| 1:110041732:A:AG | acceptor_gain | 1.0000 |
| 1:110041733:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
5533 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:110043840:T:A | W424R | 1.000 |
| 1:110043840:T:C | W424R | 1.000 |
| 1:110043842:G:C | W424C | 1.000 |
| 1:110043842:G:T | W424C | 1.000 |
| 1:110043851:G:C | K427N | 1.000 |
| 1:110043851:G:T | K427N | 1.000 |
| 1:110044859:T:C | F436L | 1.000 |
| 1:110044860:T:C | F436S | 1.000 |
| 1:110044860:T:G | F436C | 1.000 |
| 1:110044861:C:A | F436L | 1.000 |
| 1:110044861:C:G | F436L | 1.000 |
| 1:110044863:T:A | L437H | 1.000 |
| 1:110044863:T:C | L437P | 1.000 |
| 1:110044874:C:A | R441S | 1.000 |
| 1:110044874:C:G | R441G | 1.000 |
| 1:110044875:G:C | R441P | 1.000 |
| 1:110044880:A:G | K443E | 1.000 |
| 1:110044883:T:C | F444L | 1.000 |
| 1:110044884:T:C | F444S | 1.000 |
| 1:110044884:T:G | F444C | 1.000 |
| 1:110044885:T:A | F444L | 1.000 |
| 1:110044885:T:G | F444L | 1.000 |
| 1:110045034:G:A | G458R | 1.000 |
| 1:110045034:G:C | G458R | 1.000 |
| 1:110045034:G:T | G458W | 1.000 |
| 1:110045035:G:A | G458E | 1.000 |
| 1:110045038:T:A | L459Q | 1.000 |
| 1:110045038:T:C | L459P | 1.000 |
| 1:110045038:T:G | L459R | 1.000 |
| 1:110045040:C:A | P460T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000115039 (1:110034329 G>A), RS1000143465 (1:110032287 G>C), RS1000182198 (1:110049656 G>A,C), RS1000364380 (1:110040102 G>A), RS1000381441 (1:110050047 T>G), RS1000411943 (1:110032674 G>T), RS1000903468 (1:110039384 C>T), RS1000927428 (1:110045703 G>A), RS1000933477 (1:110050188 T>C), RS1000966507 (1:110038584 G>A), RS1001002517 (1:110034094 T>C), RS1001105750 (1:110032624 A>C), RS1001322279 (1:110047037 G>A,C), RS1001385836 (1:110051318 T>G), RS1001531083 (1:110041454 T>G)
Disease associations
OMIM: gene MIM:617918 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001524_21 | Visceral adipose tissue/subcutaneous adipose tissue ratio | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004767 | visceral:subcutaneous adipose tissue ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Doxorubicin | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases abundance, decreases 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.