ST13
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Also known as SNC6HSPABP1HIPP48FAM10A1
Summary
ST13 (ST13 Hsp70 interacting protein, HGNC:11343) is a protein-coding gene on chromosome 22q13.2, encoding Hsc70-interacting protein (P50502). One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40.
The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 6767 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 65 total
- MANE Select transcript:
NM_003932
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11343 |
| Approved symbol | ST13 |
| Name | ST13 Hsp70 interacting protein |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SNC6, HSPABP1, HIP, P48, FAM10A1 |
| Ensembl gene | ENSG00000100380 |
| Ensembl biotype | protein_coding |
| OMIM | 606796 |
| Entrez | 6767 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 16 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000216218, ENST00000411695, ENST00000413424, ENST00000455824, ENST00000480048, ENST00000495652, ENST00000893861, ENST00000893862, ENST00000893863, ENST00000893864, ENST00000893865, ENST00000893866, ENST00000893867, ENST00000893868, ENST00000893869, ENST00000893870, ENST00000893871, ENST00000930430, ENST00000930431, ENST00000960885
RefSeq mRNA: 2 — MANE Select: NM_003932
NM_001278589, NM_003932
CCDS: CCDS14006
Canonical transcript exons
ENST00000216218 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000654945 | 40827096 | 40827229 |
| ENSE00000654955 | 40848294 | 40848369 |
| ENSE00000880425 | 40824535 | 40826666 |
| ENSE00000880427 | 40856431 | 40856639 |
| ENSE00003461432 | 40830840 | 40830956 |
| ENSE00003556709 | 40844839 | 40844909 |
| ENSE00003566742 | 40835803 | 40835887 |
| ENSE00003614078 | 40829626 | 40829674 |
| ENSE00003614848 | 40835560 | 40835670 |
| ENSE00003617145 | 40850823 | 40850880 |
| ENSE00003635293 | 40840626 | 40840692 |
| ENSE00003686480 | 40832569 | 40832671 |
Expression profiles
Bgee: expression breadth ubiquitous, 304 present calls, max score 99.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 91.8099 / max 2182.7804, expressed in 1824 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194332 | 88.4960 | 1824 |
| 194331 | 2.8747 | 1260 |
| 194333 | 0.4391 | 173 |
Top tissues by expression
304 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 99.47 | gold quality |
| calcaneal tendon | UBERON:0003701 | 99.45 | gold quality |
| right ovary | UBERON:0002118 | 99.32 | gold quality |
| ovary | UBERON:0000992 | 99.29 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.12 | gold quality |
| adrenal tissue | UBERON:0018303 | 99.11 | gold quality |
| body of uterus | UBERON:0009853 | 99.09 | gold quality |
| ventricular zone | UBERON:0003053 | 99.08 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.02 | gold quality |
| endocervix | UBERON:0000458 | 98.98 | gold quality |
| gall bladder | UBERON:0002110 | 98.84 | gold quality |
| cortical plate | UBERON:0005343 | 98.82 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.80 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.78 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.78 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 98.77 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.77 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.77 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.76 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.75 | gold quality |
| popliteal artery | UBERON:0002250 | 98.72 | gold quality |
| tibial artery | UBERON:0007610 | 98.72 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.71 | gold quality |
| ectocervix | UBERON:0012249 | 98.67 | gold quality |
| adrenal gland | UBERON:0002369 | 98.61 | gold quality |
| left uterine tube | UBERON:0001303 | 98.60 | gold quality |
| artery | UBERON:0001637 | 98.59 | gold quality |
| nephron tubule | UBERON:0001231 | 98.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.49 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 14.11 |
| E-GEOD-125970 | yes | 12.87 |
| E-MTAB-9801 | yes | 5.65 |
| E-CURD-77 | no | 655.58 |
| E-MTAB-10596 | no | 565.48 |
| E-GEOD-150728 | no | 317.77 |
| E-MTAB-10287 | no | 47.86 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1, ESR2
miRNA regulators (miRDB)
95 targeting ST13, 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-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
Literature-anchored findings (GeneRIF, showing 16)
- Hip functions to promote the efficiency of glucocorticoid receptor maturation in cells (PMID:15071092)
- The expression of ST13 decreases in colorectal cancer tissue compared with that in adjacent normal tissue. ST13 is mostly expressed in colorectal epithelia and adenocarcinoma cells. (PMID:15637739)
- tetratricopeptide repeat domain is required for effects of CHIP on alpha-synuclein inclusion morphology, number of inclusions, and proteasomal degradation as well as the direct interaction of CHIP with Hsp70 implicates their cooperation in these processes (PMID:15845543)
- The expression levels of the ST13 gene were significantly decreased in primary tumors compared with adjacent mucosa (P<0.05). (PMID:16358374)
- results suggest that granzyme B-mediated loss of HIP expression occurs in vivo, and in a coordinate fashion with loss of BID, pro-caspase-8 and pro-caspase-3; data implicate the Hsp70 co-chaperone HIP in the proteolytic cascade of some apoptotic pathways (PMID:17013759)
- analysis of similarity between the chloroplast translocon component, Tic40, and the human co-chaperone, Hsp70-interacting protein (PMID:17535810)
- The expression levels of ST13 cannot serve as a biomarker for early stages of PD. (PMID:20193743)
- These results strongly indicate ST13 mediated by adenovirus triggers colorectal cell apoptosis via ASK1-JNK signaling cascade (PMID:20512919)
- S-nitrosoglutathione corrects DeltaF508 CFTR trafficking by inhibiting Hop expression (PMID:20534503)
- A single amino acid substitution (L211S) resulted in a loss of Hip function. This mutation also appears to disrupt the interaction of Hip with Hsp70 in vitro (PMID:21240662)
- Hip has been identified as a novel substrate of GRK5 in vitro and in cells, and phosphorylation of Hip by GRK5 plays a role in modulating CXCR4 internalization (PMID:21728385)
- Akt phosphorylation at Thr308 and Ser473 is required for CHIP-mediated ubiquitination of the kinase. (PMID:21767636)
- St13 is a proliferation regulator that inhibits tumor growth in colorectal neoplasms and may affect cell migration. (PMID:23125081)
- A novel susceptibility gene, ST13, coding for a cochaperone of the glucocorticoid receptor, is associated with exacerbations in asthmatic children and young adults despite their ICS use. (PMID:25616159)
- An autophagy-related model of 4 key genes for predicting prognosis of patients with laryngeal cancer. (PMID:32791689)
- Polymorphism in Genes Encoding Adaptor Proteins ST13 and STIP1 and the Risk of Ischemic Stroke: a Pilot Study. (PMID:38492099)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | st13 | ENSDARG00000021973 |
| mus_musculus | St13 | ENSMUSG00000022403 |
| rattus_norvegicus | St13-ps2 | ENSRNOG00000004239 |
| rattus_norvegicus | Slc25a17 | ENSRNOG00000018920 |
| drosophila_melanogaster | HIP-R | FBGN0029676 |
| drosophila_melanogaster | Spag1 | FBGN0039463 |
| drosophila_melanogaster | HIP | FBGN0260484 |
Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), STUB1 (ENSG00000103266), SPAG1 (ENSG00000104450), SGTA (ENSG00000104969), TTC1 (ENSG00000113312), TTC31 (ENSG00000115282), UNC45A (ENSG00000140553), UNC45B (ENSG00000141161), SPATA16 (ENSG00000144962), TTC12 (ENSG00000149292), TOMM70 (ENSG00000154174), SUGT1 (ENSG00000165416), STIP1 (ENSG00000168439), TTC32 (ENSG00000183891), SGTB (ENSG00000197860), TTC4 (ENSG00000243725), DNAAF4 (ENSG00000256061)
Protein
Protein identifiers
Hsc70-interacting protein — P50502 (reviewed: P50502)
Alternative names: Aging-associated protein 2, Progesterone receptor-associated p48 protein, Protein FAM10A1, Putative tumor suppressor ST13, Renal carcinoma antigen NY-REN-33, Suppression of tumorigenicity 13 protein
All UniProt accessions (6): P50502, A0A140VKA6, B4E0U6, F6VDH7, F8WAQ7, H7C3I1
UniProt curated annotations — full annotation on UniProt →
Function. One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins.
Subunit / interactions. Homotetramer. Interacts with HSC70 as well as DNAJ homologs and HSP90. Interacts (via the C-terminus 303- 319 AA) with GRK5.
Subcellular location. Cytoplasm.
Similarity. Belongs to the FAM10 family.
RefSeq proteins (2): NP_001265518, NP_003923* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006636 | STI1_HS-bd | Domain |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR034649 | Hip_N | Domain |
| IPR041243 | STI1/HOP_DP | Domain |
Pfam: PF13181, PF17830, PF18253
UniProt features (17 total): repeat 3, modified residue 3, sequence conflict 3, compositionally biased region 3, region of interest 2, chain 1, sequence variant 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P50502-F1 | 82.20 | 0.50 |
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 (3): 346, 353, 360
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3371453 | Regulation of HSF1-mediated heat shock response |
MSigDB gene sets: 254 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GGGACCA_MIR133A_MIR133B, RNGTGGGC_UNKNOWN, TSENG_IRS1_TARGETS_UP, DORSAM_HOXA9_TARGETS_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, EFC_Q6, GOBP_PROTEIN_MATURATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GNF2_FBL
GO Biological Process (2): protein folding (GO:0006457), response to bacterium (GO:0009617)
GO Molecular Function (4): Hsp70 protein binding (GO:0030544), protein-macromolecule adaptor activity (GO:0030674), protein dimerization activity (GO:0046983), protein binding (GO:0005515)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Cellular response to heat stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| response to other organism | 1 |
| heat shock protein binding | 1 |
| protein-folding chaperone binding | 1 |
| molecular adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ST13 | HSP90AA1 | P07900 | 994 |
| ST13 | HSP90AB1 | P08238 | 994 |
| ST13 | HSPA4 | P34932 | 993 |
| ST13 | HSPA8 | P11142 | 992 |
| ST13 | DNAJB1 | P25685 | 942 |
| ST13 | BAG1 | Q99933 | 823 |
| ST13 | ATXN3L | Q9H3M9 | 783 |
| ST13 | UBE2D1 | P51668 | 698 |
| ST13 | ATXN3 | P54252 | 670 |
| ST13 | GSK3B | P49841 | 667 |
| ST13 | UBXN2A | P68543 | 651 |
| ST13 | BAG3 | O95817 | 625 |
| ST13 | UBE4B | O95155 | 594 |
| ST13 | ST14 | Q9Y5Y6 | 594 |
| ST13 | BAG2 | O95816 | 590 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| HTT | ST13 | psi-mi:“MI:0915”(physical association) | 0.670 |
| ST13 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CD209 | ST13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG1 | ST13 | psi-mi:“MI:0407”(direct interaction) | 0.560 |
| APOE | ST13 | psi-mi:“MI:0914”(association) | 0.480 |
| NOS3 | ST13 | psi-mi:“MI:0914”(association) | 0.480 |
| ST13 | NOS3 | psi-mi:“MI:0914”(association) | 0.480 |
| ST13 | PSEN1 | psi-mi:“MI:0914”(association) | 0.480 |
| APOE | ST13 | psi-mi:“MI:0915”(physical association) | 0.480 |
BioGRID (267): ST13 (Affinity Capture-MS), HSP90AA1 (Reconstituted Complex), HSPA4 (Reconstituted Complex), CFL2 (Co-fractionation), CLIC1 (Co-fractionation), DSTN (Co-fractionation), HEATR3 (Co-fractionation), PACSIN2 (Co-fractionation), PACSIN3 (Co-fractionation), ST13 (Co-fractionation), SUB1 (Co-fractionation), ST13 (Affinity Capture-MS), ST13 (Affinity Capture-MS), ST13 (Affinity Capture-MS), HSP90AA1 (Reconstituted Complex)
ESM2 similar proteins: A1A0A3, A1A3P4, A4WDH8, A7ZQ54, A8A3C0, B1IVM0, B1VMF2, B1W5F4, B1XBT4, B2TYN5, B2VEC6, B3DQ30, B6I635, B7GPW0, B7LDK2, B7M983, B7MIV1, B7MYA6, B7N6J9, B7NSB2, B7UH62, B8DT61, B9JZG5, C4ZYN1, C6D9J8, O76031, O86810, P09372, P50502, Q05562, Q0T181, Q0TEM6, Q1R8B1, Q31XD2, Q32CX5, Q3YYM5, Q5R7N3, Q5RF31, Q5U2U0, Q7ABI1
Diamond homologs: A0A3L6DPG1, C4NYP8, O13797, P15705, P50502, P50503, P53041, P53042, Q08168, Q0JL44, Q28IV3, Q388N2, Q5RF31, Q5WA76, Q5ZLF0, Q60676, Q68FQ7, Q6ES52, Q6NU95, Q86DS1, Q8IZP2, Q8NFI4, Q8VWG7, Q93YR3, Q99L47, Q9D706, Q9H6T3, Q9HGM9, Q9LNB6, Q9NES8, Q9STH1, F8RP11, Q07617, Q4R8N7, Q54DA8, Q7ZWU1, Q80XJ3, Q80ZX8, Q8BW49, Q96AY4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GRK5 | “up-regulates activity” | ST13 | phosphorylation |
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 |
|---|---|---|---|
| Dengue Virus Genome Translation and Replication | 7 | 31.7× | 1e-06 |
| Activation of STAT3 by cadherin engagement | 5 | 11.7× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2696 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:40826667:C:CA | acceptor_loss | 1.0000 |
| 22:40826667:C:CC | acceptor_gain | 1.0000 |
| 22:40827094:A:AC | donor_gain | 1.0000 |
| 22:40827095:C:CC | donor_gain | 1.0000 |
| 22:40827095:CCTG:C | donor_gain | 1.0000 |
| 22:40827225:GCCAC:G | acceptor_gain | 1.0000 |
| 22:40827226:CCAC:C | acceptor_gain | 1.0000 |
| 22:40827226:CCACC:C | acceptor_gain | 1.0000 |
| 22:40827227:CAC:C | acceptor_gain | 1.0000 |
| 22:40827227:CACC:C | acceptor_gain | 1.0000 |
| 22:40827227:CACCT:C | acceptor_loss | 1.0000 |
| 22:40827228:AC:A | acceptor_gain | 1.0000 |
| 22:40827229:CC:C | acceptor_gain | 1.0000 |
| 22:40827229:CCTG:C | acceptor_loss | 1.0000 |
| 22:40827230:C:CC | acceptor_gain | 1.0000 |
| 22:40827232:G:GC | acceptor_gain | 1.0000 |
| 22:40827235:A:AC | acceptor_gain | 1.0000 |
| 22:40830824:G:C | donor_gain | 1.0000 |
| 22:40830835:TTTAC:T | donor_loss | 1.0000 |
| 22:40830836:TTAC:T | donor_loss | 1.0000 |
| 22:40830837:TA:T | donor_loss | 1.0000 |
| 22:40830838:AC:A | donor_gain | 1.0000 |
| 22:40830839:CC:C | donor_gain | 1.0000 |
| 22:40830839:CCCT:C | donor_gain | 1.0000 |
| 22:40830877:A:C | donor_gain | 1.0000 |
| 22:40830952:TGTGC:T | acceptor_gain | 1.0000 |
| 22:40830953:GTGC:G | acceptor_gain | 1.0000 |
| 22:40830954:TGC:T | acceptor_gain | 1.0000 |
| 22:40830955:GC:G | acceptor_gain | 1.0000 |
| 22:40830956:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
2459 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:40826578:A:G | L357P | 1.000 |
| 22:40826587:A:T | V354D | 1.000 |
| 22:40826606:A:C | Y348D | 1.000 |
| 22:40826632:G:T | A339D | 1.000 |
| 22:40826633:C:G | A339P | 1.000 |
| 22:40826644:A:G | F335S | 1.000 |
| 22:40826647:G:T | A334D | 1.000 |
| 22:40826656:A:T | V331D | 1.000 |
| 22:40826665:T:C | D328G | 1.000 |
| 22:40827104:C:G | A325P | 1.000 |
| 22:40832615:T:A | D212V | 1.000 |
| 22:40832656:C:A | W198C | 1.000 |
| 22:40832656:C:G | W198C | 1.000 |
| 22:40832658:A:G | W198R | 1.000 |
| 22:40832658:A:T | W198R | 1.000 |
| 22:40835572:C:T | G189E | 1.000 |
| 22:40835573:C:A | G189W | 1.000 |
| 22:40835573:C:G | G189R | 1.000 |
| 22:40835573:C:T | G189R | 1.000 |
| 22:40835809:C:A | R154M | 1.000 |
| 22:40826566:A:G | L361S | 0.999 |
| 22:40826575:A:T | I358N | 0.999 |
| 22:40826578:A:T | L357H | 0.999 |
| 22:40826605:T:C | Y348C | 0.999 |
| 22:40826605:T:G | Y348S | 0.999 |
| 22:40826635:A:T | V338E | 0.999 |
| 22:40826638:T:A | D337V | 0.999 |
| 22:40826639:C:G | D337H | 0.999 |
| 22:40826648:C:G | A334P | 0.999 |
| 22:40826665:T:A | D328V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000014107 (22:40858414 C>A), RS1000066028 (22:40827471 A>G), RS1000074137 (22:40847378 C>A), RS1000157111 (22:40856615 C>A,G,T), RS1000259599 (22:40844449 T>A,C), RS1000347997 (22:40833529 C>A), RS1000381831 (22:40839210 G>T), RS1000383655 (22:40852155 G>C,T), RS1000477359 (22:40843381 A>G), RS1000549011 (22:40843147 G>A), RS1000590475 (22:40844755 G>A), RS1000757149 (22:40837677 G>T), RS1000881433 (22:40830642 G>A), RS1000930770 (22:40858635 G>A), RS1000934216 (22:40824591 C>T)
Disease associations
OMIM: gene MIM:606796 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_42 | Autism spectrum disorder or schizophrenia | 1.000000e-08 |
| GCST004521_55 | Autism spectrum disorder or schizophrenia | 9.000000e-09 |
| GCST006948_57 | Feeling nervous | 2.000000e-08 |
| GCST008103_42 | Bipolar disorder | 2.000000e-07 |
| GCST008115_35 | Bipolar I disorder | 3.000000e-07 |
| GCST010002_83 | Refractive error | 2.000000e-27 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009597 | feeling nervous measurement |
| EFO:0009963 | bipolar I disorder |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs138335 | Efficacy | 3 | corticosteroids | Asthma |
| rs138337 | Efficacy | 3 | corticosteroids | Asthma |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs138335 | ST13 | 3 | 1.25 | 1 | corticosteroids |
| rs138337 | ST13 | 3 | 1.50 | 1 | corticosteroids |
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, increases expression | 4 |
| bisphenol A | decreases expression, increases expression | 3 |
| sodium arsenite | increases expression | 2 |
| cobaltous chloride | increases expression | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| Ivermectin | increases expression, decreases expression, affects cotreatment | 2 |
| bisphenol F | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| CD 437 | decreases expression | 1 |
| nickel acetate | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | increases oxidation, affects cotreatment, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 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): bipolar disorder