HSBP1
gene geneOn this page
Summary
HSBP1 (heat shock factor binding protein 1, HGNC:5203) is a protein-coding gene on chromosome 16q23.3, encoding Heat shock factor-binding protein 1 (O75506). Negative regulator of the heat shock response.
The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response.
Source: NCBI Gene 3281 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 22 total
- MANE Select transcript:
NM_001537
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5203 |
| Approved symbol | HSBP1 |
| Name | heat shock factor binding protein 1 |
| Location | 16q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000230989 |
| Ensembl biotype | protein_coding |
| OMIM | 604553 |
| Entrez | 3281 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 7 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000433866, ENST00000567382, ENST00000569301, ENST00000570259, ENST00000685468, ENST00000685807, ENST00000689426, ENST00000690173, ENST00000693379, ENST00000693758, ENST00000959458, ENST00000959459, ENST00000959460
RefSeq mRNA: 1 — MANE Select: NM_001537
NM_001537
CCDS: CCDS45534
Canonical transcript exons
ENST00000433866 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001103920 | 83808680 | 83808746 |
| ENSE00002576831 | 83807978 | 83808121 |
| ENSE00002581925 | 83811421 | 83819737 |
| ENSE00003599662 | 83809305 | 83809425 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 148.1477 / max 1945.4391, expressed in 1826 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155263 | 145.7440 | 1825 |
| 155262 | 2.4037 | 1334 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oral cavity | UBERON:0000167 | 99.19 | gold quality |
| bronchial epithelial cell | CL:0002328 | 99.14 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 99.06 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.04 | gold quality |
| bronchus | UBERON:0002185 | 98.95 | gold quality |
| embryo | UBERON:0000922 | 98.94 | gold quality |
| ventricular zone | UBERON:0003053 | 98.80 | gold quality |
| adult organism | UBERON:0007023 | 98.73 | gold quality |
| endometrium epithelium | UBERON:0004811 | 98.69 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 98.68 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.45 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.39 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.28 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.26 | gold quality |
| cortical plate | UBERON:0005343 | 98.09 | gold quality |
| endothelial cell | CL:0000115 | 98.00 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.91 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.86 | gold quality |
| left testis | UBERON:0004533 | 97.83 | gold quality |
| spinal cord | UBERON:0002240 | 97.77 | gold quality |
| right testis | UBERON:0004534 | 97.77 | gold quality |
| type B pancreatic cell | CL:0000169 | 97.71 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.71 | gold quality |
| body of tongue | UBERON:0011876 | 97.71 | gold quality |
| medial globus pallidus | UBERON:0002477 | 97.67 | gold quality |
| monocyte | CL:0000576 | 97.63 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 97.63 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 97.63 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.59 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 97.58 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 62.84 |
| E-HCAD-1 | yes | 28.23 |
| E-MTAB-10287 | yes | 25.46 |
| E-MTAB-10042 | yes | 11.70 |
| E-CURD-112 | yes | 4.25 |
| E-MTAB-9388 | no | 2931.54 |
| E-HCAD-30 | no | 202.23 |
| E-HCAD-5 | no | 10.18 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
103 targeting HSBP1, 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-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
Literature-anchored findings (GeneRIF, showing 10)
- HSBP likely mediates its function through its trimerization domain. (PMID:11679589)
- This study reports the crystal structure of a degradation-resistant fragment of HSBP1. A continuous, long-helix conformation of HSBP1 assembles into a coiled-coil three-helix bundle and subsequently into an elongated, symmetrical hexamer. (PMID:18767159)
- HspBP1 inhibited the cytotoxic activity of the Tag7-Hsp70 complex secreted by lymphocytes. HspBP1 (PMID:21247889)
- HSBP1 is crucial for regulating resistance to radiotherapy of oral squamous epithelial carcinoma cells by inducing stem-like status. (PMID:24816843)
- Results presented here show that acquisition of a positive charge in HSBP1, either by protonation of His124 or its substitution by lysine, reduces the stability of the dimer interface of the alpha-crystallin domain, increases oligomeric size, and modestly increases chaperone activity. (PMID:28332148)
- HSPB1 protects cells against proapoptotic agents when expressed at high level, while inhibition of its expression has been found to predispose cells to apoptosis. (PMID:28828227)
- the armadillo-type NEFs budding yeast Fes1 and its human homolog HspBP1 employ flexible N-terminal release domains (RDs) with substrate-mimicking properties to ensure the efficient release of persistent substrates from Hsp70 (PMID:29323280)
- Here, we identify the small coiled-coil protein HSBP1 as a factor that specifically promotes the assembly of a ternary complex composed of CCDC53, WASH, and FAM21 by dissociating the CCDC53 homotrimeric precursor. HSBP1 operates at the centrosome, which concentrates the building blocks. (PMID:29844016)
- The functional HSPB1 rs2868371 promoter variant may affect lung cancer survival by regulation of HSPB1 expression levels through glucocorticoid receptor interaction. (PMID:31015126)
- Lin28A Regulates Stem-like Properties of Ovarian Cancer Cells by Enriching RAN and HSBP1 mRNA and Up-regulating its Protein Expression. (PMID:32398961)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hsbp1b | ENSDARG00000041921 |
| danio_rerio | hsbp1a | ENSDARG00000069425 |
| mus_musculus | Hsbp1 | ENSMUSG00000031839 |
| rattus_norvegicus | Hsbp1 | ENSRNOG00000014415 |
| drosophila_melanogaster | CG5446 | FBGN0032429 |
| caenorhabditis_elegans | WBGENE00002002 |
Paralogs (1): HSBP1L1 (ENSG00000226742)
Protein
Protein identifiers
Heat shock factor-binding protein 1 — O75506 (reviewed: O75506)
Alternative names: Nasopharyngeal carcinoma-associated antigen 13
All UniProt accessions (3): A0A8I5KTJ3, A0A8I5KYC9, O75506
UniProt curated annotations — full annotation on UniProt →
Function. Negative regulator of the heat shock response. Negatively affects HSF1 DNA-binding activity. May have a role in the suppression of the activation of the stress response during the aging process.
Subunit / interactions. Homohexamer. Associates with heptad repeats of HSF1 trimers and probably also HSF1 monomers, and with HSP70. Association with HSF1 trimers and HSP70 coincides with attenuation of heat shock response and the conversion of HSF1 trimer to monomer.
Subcellular location. Nucleus.
Similarity. Belongs to the HSBP1 family.
RefSeq proteins (1): NP_001528* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009643 | HS1-bd | Family |
Pfam: PF06825
UniProt features (8 total): mutagenesis site 4, sequence conflict 2, chain 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3CI9 | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75506-F1 | 87.35 | 0.68 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 16 | loss of interaction with hsf1; in association with k-19. |
| 19 | loss of interaction with hsf1; in association with k-16. |
| 45 | loss of interaction with hsf1; in association with k-48. |
| 48 | loss of interaction with hsf1; in association with k-45. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3371511 | HSF1 activation |
| R-HSA-3371568 | Attenuation phase |
| R-HSA-3371571 | HSF1-dependent transactivation |
MSigDB gene sets: 224 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, SHEPARD_BMYB_MORPHOLINO_UP, MORF_MBD4, GOBP_AXO_DENDRITIC_TRANSPORT, MORF_RAB5A, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, MODULE_151, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MORF_PSMC2, MORF_SKP1A, GOBP_MUSCLE_CONTRACTION
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), muscle contraction (GO:0006936), axonal transport of mitochondrion (GO:0019896), endodermal cell differentiation (GO:0035987), cellular heat acclimation (GO:0070370), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (3): transcription corepressor activity (GO:0003714), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), axon cytoplasm (GO:1904115)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cellular response to heat stress | 2 |
| HSF1-dependent transactivation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of DNA-templated transcription | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| muscle system process | 1 |
| mitochondrion transport along microtubule | 1 |
| axonal transport | 1 |
| axon cytoplasm | 1 |
| endoderm formation | 1 |
| cell differentiation | 1 |
| heat acclimation | 1 |
| cellular response to heat | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| axon | 1 |
| neuron projection cytoplasm | 1 |
Protein interactions and networks
STRING
570 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HSBP1 | HSPA4 | P34932 | 693 |
| HSBP1 | WASHC3 | Q9Y3C0 | 496 |
| HSBP1 | IREB2 | P48200 | 463 |
| HSBP1 | STOML2 | Q9UJZ1 | 447 |
| HSBP1 | LPCAT3 | Q6P1A2 | 442 |
| HSBP1 | SMS | P52788 | 437 |
| HSBP1 | ARPP19 | P56211 | 433 |
| HSBP1 | HSPH1 | Q92598 | 423 |
| HSBP1 | CARS1 | P49589 | 413 |
| HSBP1 | LAMTOR1 | Q6IAA8 | 410 |
| HSBP1 | UCHL3 | P15374 | 410 |
| HSBP1 | CARS2 | Q9HA77 | 409 |
| HSBP1 | GAPT | Q8N292 | 398 |
| HSBP1 | OTUD6A | Q7L8S5 | 393 |
| HSBP1 | PSMD4 | P55036 | 392 |
IntAct
169 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATG101 | ATG13 | psi-mi:“MI:0914”(association) | 0.950 |
| WASHC3 | HSBP1 | psi-mi:“MI:0915”(physical association) | 0.940 |
| HSBP1 | WASHC3 | psi-mi:“MI:0915”(physical association) | 0.940 |
| ATG13 | ULK1 | psi-mi:“MI:2364”(proximity) | 0.940 |
| RB1CC1 | ATG13 | psi-mi:“MI:0914”(association) | 0.820 |
| HSBP1 | LNX1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HSBP1 | BRK1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| BRK1 | HSBP1 | psi-mi:“MI:0914”(association) | 0.740 |
| HSBP1 | SDCBP | psi-mi:“MI:0915”(physical association) | 0.720 |
| SDCBP | HSBP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HSBP1 | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (91): HSBP1 (Two-hybrid), KIFC3 (Two-hybrid), SDCBP (Two-hybrid), CCDC53 (Two-hybrid), CCHCR1 (Two-hybrid), KIAA1217 (Two-hybrid), LNX1 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), HSBP1 (Affinity Capture-MS), HSBP1 (Affinity Capture-MS), CCDC53 (Two-hybrid), HSBP1 (Affinity Capture-MS), HSBP1 (Proximity Label-MS)
ESM2 similar proteins: B2RXB2, B5X3I1, C9JCN9, D4A7N1, D4A9E1, O75506, P58686, Q0P4J3, Q0VCF3, Q13503, Q2NKS9, Q3TY65, Q3ZC22, Q4R6N3, Q4V7L5, Q5E9D3, Q5EAU9, Q5FWT9, Q5R561, Q5R8J5, Q5RDI2, Q5RE46, Q5RGJ6, Q5ZKJ4, Q66H15, Q68EW7, Q6DF11, Q6ID77, Q6IP02, Q6P255, Q6TA25, Q7SYL1, Q7T338, Q8AVR2, Q8GW48, Q8K3X8, Q8R0H9, Q99LE1, Q9BRQ6, Q9BRV8
Diamond homologs: O75506, Q3ZC22, Q5RDI2, Q8K3X8, Q9CQZ1, Q8GW48
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HSBP1 | “up-regulates quantity” | “WASH complex” | relocalization |
| HSBP1 | “down-regulates activity” | HSF1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 96 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 |
|---|---|---|---|
| mitotic spindle organization | 5 | 16.4× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 1 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1834 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:83748107:GGT:G | acceptor_gain | 1.0000 |
| 16:83748246:CAGTG:C | donor_gain | 1.0000 |
| 16:83748248:GTG:G | donor_gain | 1.0000 |
| 16:83748249:TG:T | donor_gain | 1.0000 |
| 16:83748250:GG:G | donor_gain | 1.0000 |
| 16:83748251:G:C | donor_loss | 1.0000 |
| 16:83748251:G:GG | donor_gain | 1.0000 |
| 16:83748252:TGA:T | donor_loss | 1.0000 |
| 16:83748253:GAG:G | donor_loss | 1.0000 |
| 16:83748254:AGT:A | donor_loss | 1.0000 |
| 16:83779962:CCACA:C | acceptor_loss | 1.0000 |
| 16:83779963:CACA:C | acceptor_loss | 1.0000 |
| 16:83779964:ACAGG:A | acceptor_loss | 1.0000 |
| 16:83779965:CA:C | acceptor_loss | 1.0000 |
| 16:83779966:A:AG | acceptor_gain | 1.0000 |
| 16:83779966:AGGCA:A | acceptor_loss | 1.0000 |
| 16:83779967:G:GA | acceptor_gain | 1.0000 |
| 16:83779967:GGC:G | acceptor_gain | 1.0000 |
| 16:83779967:GGCA:G | acceptor_gain | 1.0000 |
| 16:83780197:CAACA:C | donor_gain | 1.0000 |
| 16:83780198:AACA:A | donor_gain | 1.0000 |
| 16:83780199:ACA:A | donor_gain | 1.0000 |
| 16:83780200:CA:C | donor_gain | 1.0000 |
| 16:83780201:AGT:A | donor_loss | 1.0000 |
| 16:83780202:G:GG | donor_gain | 1.0000 |
| 16:83780202:GTAA:G | donor_loss | 1.0000 |
| 16:83780203:T:G | donor_loss | 1.0000 |
| 16:83783469:GCTT:G | donor_gain | 1.0000 |
| 16:83811490:C:G | donor_gain | 1.0000 |
| 16:83748103:TTCA:T | acceptor_loss | 0.9900 |
AlphaMissense
516 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:83809335:T:C | L48P | 1.000 |
| 16:83808693:T:C | L20P | 0.999 |
| 16:83808725:T:C | S31P | 0.999 |
| 16:83808732:A:C | Q33P | 0.999 |
| 16:83809335:T:A | L48Q | 0.999 |
| 16:83808690:T:C | L19P | 0.998 |
| 16:83808713:T:C | F27L | 0.998 |
| 16:83808714:T:C | F27S | 0.998 |
| 16:83808715:T:A | F27L | 0.998 |
| 16:83808715:T:G | F27L | 0.998 |
| 16:83808735:T:G | I34S | 0.998 |
| 16:83809323:G:C | R44P | 0.998 |
| 16:83809338:A:T | E49V | 0.998 |
| 16:83809356:T:C | L55P | 0.998 |
| 16:83808717:A:C | Q28P | 0.997 |
| 16:83808735:T:C | I34T | 0.997 |
| 16:83809315:G:A | M41I | 0.997 |
| 16:83809315:G:C | M41I | 0.997 |
| 16:83809315:G:T | M41I | 0.997 |
| 16:83809349:G:C | A53P | 0.997 |
| 16:83809356:T:A | L55H | 0.997 |
| 16:83809367:G:C | A59P | 0.997 |
| 16:83808693:T:A | L20Q | 0.996 |
| 16:83808726:C:T | S31F | 0.996 |
| 16:83808735:T:A | I34N | 0.996 |
| 16:83808745:A:C | R37S | 0.996 |
| 16:83808745:A:T | R37S | 0.996 |
| 16:83809314:T:G | M41R | 0.996 |
| 16:83808111:T:C | L12P | 0.995 |
| 16:83808702:T:G | M23R | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000119018 (16:83814234 C>A,G,T), RS1000173691 (16:83817196 T>A,C,G), RS1000238678 (16:83814466 A>G), RS1000719161 (16:83813281 C>G), RS1000739928 (16:83808322 C>A,G), RS1001016509 (16:83819799 A>G,T), RS1001161436 (16:83818283 C>G,T), RS1001277471 (16:83818093 G>A), RS1001277850 (16:83815602 C>T), RS1001338304 (16:83815219 T>G), RS1001901270 (16:83810961 CAG>C), RS1001932175 (16:83811153 A>G), RS1002013523 (16:83815165 G>A), RS1002054700 (16:83817143 C>T), RS1002087343 (16:83812711 A>C,G)
Disease associations
OMIM: gene MIM:604553 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002935_4 | Lead levels | 3.000000e-07 |
| GCST003830_25 | Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) | 4.000000e-07 |
| GCST003830_5 | Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1) | 9.000000e-08 |
| GCST004097_3 | Response to platinum-based neoadjuvant chemotherapy in cervical cancer | 3.000000e-06 |
| GCST009391_1747 | Metabolite levels | 7.000000e-08 |
| GCST009391_2015 | Metabolite levels | 2.000000e-06 |
| GCST009391_276 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005921 | FEV change measurement |
| EFO:0007943 | response to platinum-based neoadjuvant chemotherapy |
| EFO:0010349 | cholesteryl ester 20:5 measurement |
| EFO:0010348 | cholesteryl ester 20:4 measurement |
| EFO:0010495 | guanosine monophosphate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 3 |
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| terbufos | increases methylation | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| indirubin | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Gold | decreases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| Parathion | increases methylation | 1 |
| Piroxicam | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Cyclosporine | 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.