TTC4
gene geneOn this page
Also known as MGC5097FLJ41930CNS1
Summary
TTC4 (tetratricopeptide repeat domain 4, HGNC:12394) is a protein-coding gene on chromosome 1p32.3, encoding Hsp70/Hsp90 co-chaperone CNS1 homolog (O95801). Co-chaperone that recruits molecular chaperones Hsp90 (HSC82 and HSP82) and Hsp70 (SSA1) to nascent polypeptides, facilitating their proper folding into functional proteins. It is a selective cancer dependency (DepMap: 81.2% of cell lines).
This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene.
Source: NCBI Gene 7268 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 1 total
- Cancer dependency (DepMap): dependent in 81.2% of screened cell lines
- MANE Select transcript:
NM_004623
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12394 |
| Approved symbol | TTC4 |
| Name | tetratricopeptide repeat domain 4 |
| Location | 1p32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC5097, FLJ41930, CNS1 |
| Ensembl gene | ENSG00000243725 |
| Ensembl biotype | protein_coding |
| OMIM | 606753 |
| Entrez | 7268 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000371281, ENST00000371284, ENST00000486091, ENST00000486621, ENST00000876949, ENST00000876950, ENST00000934475, ENST00000934476, ENST00000970583, ENST00000970584
RefSeq mRNA: 2 — MANE Select: NM_004623
NM_001291333, NM_004623
CCDS: CCDS596
Canonical transcript exons
ENST00000371281 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001916259 | 54715861 | 54716019 |
| ENSE00001950635 | 54741411 | 54742657 |
| ENSE00003475759 | 54733629 | 54733710 |
| ENSE00003476538 | 54737582 | 54737664 |
| ENSE00003486312 | 54722675 | 54722799 |
| ENSE00003492944 | 54721163 | 54721240 |
| ENSE00003533561 | 54717492 | 54717653 |
| ENSE00003589511 | 54728346 | 54728432 |
| ENSE00003598202 | 54731486 | 54731700 |
| ENSE00003680510 | 54716600 | 54716717 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 91.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.7301 / max 265.9175, expressed in 1819 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2962 | 27.6503 | 1818 |
| 2961 | 1.0797 | 682 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 91.43 | gold quality |
| muscle of leg | UBERON:0001383 | 91.02 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.51 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.72 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 89.34 | gold quality |
| muscle tissue | UBERON:0002385 | 88.77 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.70 | gold quality |
| pituitary gland | UBERON:0000007 | 88.45 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.45 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.42 | gold quality |
| ventricular zone | UBERON:0003053 | 87.41 | gold quality |
| apex of heart | UBERON:0002098 | 87.34 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.88 | gold quality |
| hypothalamus | UBERON:0001898 | 86.78 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.65 | gold quality |
| caudate nucleus | UBERON:0001873 | 86.59 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.08 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.04 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.99 | gold quality |
| lower esophagus | UBERON:0013473 | 85.98 | gold quality |
| heart | UBERON:0000948 | 85.95 | gold quality |
| nucleus accumbens | UBERON:0001882 | 85.94 | gold quality |
| endometrium | UBERON:0001295 | 85.89 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.87 | gold quality |
| brain | UBERON:0000955 | 85.80 | gold quality |
| amygdala | UBERON:0001876 | 85.79 | gold quality |
| pancreas | UBERON:0001264 | 85.78 | gold quality |
| skin of leg | UBERON:0001511 | 85.77 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.74 | gold quality |
| putamen | UBERON:0001874 | 85.66 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 2.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting TTC4, 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-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-5009-3P | 99.45 | 69.43 | 1341 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-183-5P | 99.31 | 72.27 | 1164 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-9500 | 98.62 | 66.54 | 1845 |
| HSA-MIR-147A | 98.33 | 66.40 | 795 |
| HSA-MIR-3166 | 98.24 | 66.63 | 1223 |
| HSA-MIR-6787-3P | 97.75 | 66.17 | 1233 |
| HSA-MIR-3928-3P | 97.61 | 66.53 | 1096 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
| HSA-MIR-1289 | 97.46 | 65.37 | 655 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 81.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- TTC4 is highly expressed in malignant melanoma (PMID:18320024)
- Studies identi fi ed a novel signal of nuclear localization (NLS) in all MSL1 protein isoforms and found that the combination of both NLS allows for its intra-nuclear focal accumulation and nuclear transport of TTC4 while all MSL1 isoforms affect H4K16Ac. (PMID:24913909)
- Study identified TTC4 as a TBK1 interactor and positive regulator of Sendai virus-induced innate immunity. (PMID:29251827)
- Promoting TTC4 and HSP70 interaction and translocation of annexin A7 to lysosome inhibits apoptosis in vascular endothelial cells. (PMID:33000523)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttc4 | ENSDARG00000044405 |
| mus_musculus | Ttc4 | ENSMUSG00000025413 |
| rattus_norvegicus | Ttc4 | ENSRNOG00000042467 |
| drosophila_melanogaster | Dpit47 | FBGN0266518 |
| caenorhabditis_elegans | WBGENE00015916 |
Paralogs (18): RPAP3 (ENSG00000005175), TOMM34 (ENSG00000025772), ST13 (ENSG00000100380), 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), DNAAF4 (ENSG00000256061)
Protein
Protein identifiers
Hsp70/Hsp90 co-chaperone CNS1 homolog — O95801 (reviewed: O95801)
Alternative names: Tetratricopeptide repeat protein 4
All UniProt accessions (1): O95801
UniProt curated annotations — full annotation on UniProt →
Function. Co-chaperone that recruits molecular chaperones Hsp90 (HSC82 and HSP82) and Hsp70 (SSA1) to nascent polypeptides, facilitating their proper folding into functional proteins. Client proteins include eukaryotic elongation factor eEF2, a key player in cellular translation. Stimulates SSA1 ATPase activity, but not Hsp90 ATPase activity. Promotes Sendai virus (SeV)-induced host cell innate immune responses.
Subunit / interactions. Interacts (via TPR repeats) with HSP90AB1. Interacts with HSPA8 and CDC6. Interacts with TBK1. Interacts with MSL1.
Subcellular location. Nucleus. Nucleoplasm. Cytoplasm.
Tissue specificity. Highly expressed in proliferating tissue and tumor cell lines but not in normal cell lines.
Similarity. Belongs to the TTC4 family.
RefSeq proteins (2): NP_001278262, NP_004614* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR044059 | Csn1/TTC4_wheel | Domain |
Pfam: PF18972
UniProt features (37 total): strand 7, mutagenesis site 6, helix 6, modified residue 4, turn 4, site 4, repeat 3, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6HFO | X-RAY DIFFRACTION | 1.65 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95801-F1 | 87.31 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 77 (essential for interaction with cdc6); 152 (essential for interaction with hspa8); 156 (essential for interaction with hspa8); 217 (essential for interaction with cdc6)
Post-translational modifications (4): 51, 243, 1, 47
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 42 | no effect on interaction with hspa8, hsp90ab1 and cdc6. |
| 67 | no effect on interaction with hspa8, hsp90ab1 and cdc6. |
| 77 | no effect on interaction with hspa8 and hsp90ab1. loss of interaction with cdc6. |
| 152 | loss of interaction with hspa8. |
| 156 | loss of interaction with hspa8. |
| 217 | no effect on interaction with hspa8 and hsp90ab1. loss of interaction with cdc6. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 120 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, GOBP_PROTEIN_MATURATION, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_PROTEIN_FOLDING, GOBP_DEFENSE_RESPONSE_TO_VIRUS, DANG_BOUND_BY_MYC, GOBP_RESPONSE_TO_VIRUS, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, BENPORATH_MYC_MAX_TARGETS, GOMF_HEAT_SHOCK_PROTEIN_BINDING, GOMF_HSP90_PROTEIN_BINDING, GOMF_PROTEIN_FOLDING_CHAPERONE_BINDING, GOMF_HSP70_PROTEIN_BINDING, ALKBH3_TARGET_GENES, DIDO1_TARGET_GENES
GO Biological Process (4): protein folding (GO:0006457), innate immune response (GO:0045087), defense response to virus (GO:0051607), immune system process (GO:0002376)
GO Molecular Function (3): Hsp70 protein binding (GO:0030544), Hsp90 protein binding (GO:0051879), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| heat shock protein binding | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| defense response | 1 |
| response to virus | 1 |
| biological_process | 1 |
| protein-folding chaperone binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2882 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTC4 | SMAD3 | P84022 | 771 |
| TTC4 | CDC37 | Q16543 | 677 |
| TTC4 | RAX | Q9Y2V3 | 665 |
| TTC4 | PPID | Q08752 | 658 |
| TTC4 | FOXP3 | Q9BZS1 | 608 |
| TTC4 | GATA3 | P23771 | 602 |
| TTC4 | SATB1 | Q01826 | 599 |
| TTC4 | CBFB | Q13951 | 596 |
| TTC4 | IL4 | P05112 | 589 |
| TTC4 | TNFRSF18 | Q9Y5U5 | 586 |
| TTC4 | TTC9C | Q8N5M4 | 573 |
| TTC4 | HSP90AA1 | P07900 | 573 |
| TTC4 | TBX21 | Q9UL17 | 567 |
| TTC4 | HSP90AB1 | P08238 | 566 |
| TTC4 | GPS1 | Q13098 | 565 |
IntAct
82 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TTC4 | HGH1 | psi-mi:“MI:0915”(physical association) | 0.770 |
| TTC4 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.750 |
| TTC4 | HSP90AB1 | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| TTC4 | HSP90AB1 | psi-mi:“MI:0914”(association) | 0.750 |
| TTC4 | EDRF1 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| HSP90AA1 | CHUK | psi-mi:“MI:0914”(association) | 0.670 |
| SLC27A6 | TTC4 | psi-mi:“MI:0914”(association) | 0.640 |
| TTC4 | SNAPC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TBK1 | TTC4 | psi-mi:“MI:0914”(association) | 0.540 |
| TBK1 | TTC4 | psi-mi:“MI:0915”(physical association) | 0.540 |
| TBK1 | TTC4 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| HSP90AA1 | USP19 | psi-mi:“MI:0914”(association) | 0.530 |
| SERPINB13 | TTC4 | psi-mi:“MI:0914”(association) | 0.530 |
| EDA | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| TTC4 | HSPA8 | psi-mi:“MI:0915”(physical association) | 0.480 |
| TTC4 | CDC6 | psi-mi:“MI:0915”(physical association) | 0.480 |
| TUBA1A | TUBAL3 | psi-mi:“MI:2364”(proximity) | 0.420 |
| MTRF1L | TTC4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TTC4 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TTC4 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TTC4 | RXFP4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TTC4 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| TBK1 | FMNL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (190): HSP90AB3P (Affinity Capture-MS), GCC2 (Affinity Capture-MS), EDRF1 (Affinity Capture-MS), HGH1 (Affinity Capture-MS), TTC4 (Affinity Capture-MS), CTPS1 (Co-fractionation), HAT1 (Co-fractionation), PCID2 (Co-fractionation), SAC3D1 (Co-fractionation), TLN2 (Co-fractionation), TTC4 (Co-fractionation), TTC4 (Co-fractionation), TTC4 (Co-fractionation), TTC4 (Co-fractionation), TTC4 (Co-fractionation)
ESM2 similar proteins: A0A1L8G016, A1A5Q0, B3DH20, D3Z8X7, D4A1F2, E1BTG2, F1MF74, F1RA39, O14730, O60308, O88978, O94851, O95801, P51432, P70566, Q1RMR5, Q1RMT7, Q28FY0, Q2YDM7, Q3UHZ5, Q3UM18, Q4KLT3, Q4R3F0, Q4R8L2, Q5BJT6, Q5EA11, Q5ZJD3, Q6AZN0, Q6P5Q4, Q7Z569, Q80V31, Q863A4, Q863A5, Q863A6, Q863A7, Q86X45, Q8BML1, Q8CCP0, Q8R368, Q8R3H9
Diamond homologs: A1Z6M6, O95801, Q28IV3, Q5EA11, Q6NU95, Q8R3H9, A4K2V0, A6HD62, A6ZRW3, D7REX8, F1RBN2, F4IRM4, F4JTI1, F4K487, F4KCL7, O13754, O14217, O16259, O35814, O48802, O54981, O94826, P07213, P23231, P25638, P31948, P33313, P38825, P53041, P53042, Q07617, Q12118, Q13451, Q15785, Q32PZ3, Q3KRD5, Q3ZBR5, Q43207, Q4R8N7, Q5PPS5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 73 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 |
|---|---|---|---|
| HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand | 8 | 27.2× | 2e-07 |
| Autophagy | 5 | 13.0× | 2e-03 |
| Macroautophagy | 5 | 10.1× | 3e-03 |
| SARS-CoV-2 activates/modulates innate and adaptive immune responses | 5 | 7.8× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein folding | 9 | 13.5× | 1e-05 |
| protein stabilization | 8 | 7.8× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1476 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:54716005:G:GT | donor_gain | 1.0000 |
| 1:54716015:AGAAG:A | donor_loss | 1.0000 |
| 1:54716017:AAG:A | donor_loss | 1.0000 |
| 1:54716018:AGG:A | donor_loss | 1.0000 |
| 1:54716019:GG:G | donor_loss | 1.0000 |
| 1:54716020:G:GA | donor_loss | 1.0000 |
| 1:54717488:GCA:G | acceptor_loss | 1.0000 |
| 1:54717490:A:AG | acceptor_gain | 1.0000 |
| 1:54717491:G:GA | acceptor_gain | 1.0000 |
| 1:54717491:GA:G | acceptor_gain | 1.0000 |
| 1:54717491:GAA:G | acceptor_gain | 1.0000 |
| 1:54717491:GAAC:G | acceptor_gain | 1.0000 |
| 1:54717491:GAACA:G | acceptor_gain | 1.0000 |
| 1:54717638:GCACA:G | donor_gain | 1.0000 |
| 1:54717643:G:GG | donor_gain | 1.0000 |
| 1:54717650:CTGG:C | donor_loss | 1.0000 |
| 1:54717651:TGGGT:T | donor_loss | 1.0000 |
| 1:54717652:GG:G | donor_gain | 1.0000 |
| 1:54717653:GG:G | donor_gain | 1.0000 |
| 1:54717655:T:A | donor_loss | 1.0000 |
| 1:54721146:AAAC:A | acceptor_gain | 1.0000 |
| 1:54721149:C:CA | acceptor_gain | 1.0000 |
| 1:54728345:GC:G | acceptor_gain | 1.0000 |
| 1:54731485:GGCTA:G | acceptor_gain | 1.0000 |
| 1:54733706:TGGAG:T | donor_loss | 1.0000 |
| 1:54733709:AGG:A | donor_loss | 1.0000 |
| 1:54733709:AGGTA:A | donor_loss | 1.0000 |
| 1:54733710:GG:G | donor_loss | 1.0000 |
| 1:54733711:G:A | donor_loss | 1.0000 |
| 1:54733711:GTAAG:G | donor_loss | 1.0000 |
AlphaMissense
2558 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:54717630:G:C | R123P | 0.997 |
| 1:54717511:A:C | K83N | 0.993 |
| 1:54717511:A:T | K83N | 0.993 |
| 1:54717554:G:C | A98P | 0.992 |
| 1:54717632:G:C | A124P | 0.992 |
| 1:54731630:T:A | W276R | 0.992 |
| 1:54731630:T:C | W276R | 0.992 |
| 1:54717518:G:C | G86R | 0.991 |
| 1:54717519:G:A | G86D | 0.991 |
| 1:54722675:G:A | G157D | 0.991 |
| 1:54717555:C:A | A98D | 0.990 |
| 1:54717633:C:A | A124E | 0.990 |
| 1:54717575:G:C | G105R | 0.989 |
| 1:54722683:T:C | C160R | 0.989 |
| 1:54722685:C:G | C160W | 0.989 |
| 1:54722725:T:C | C174R | 0.988 |
| 1:54722734:G:A | G177R | 0.988 |
| 1:54722734:G:C | G177R | 0.988 |
| 1:54722785:G:C | A194P | 0.988 |
| 1:54717519:G:T | G86V | 0.987 |
| 1:54716621:T:C | F45L | 0.986 |
| 1:54716623:T:A | F45L | 0.986 |
| 1:54716623:T:G | F45L | 0.986 |
| 1:54721199:C:A | A143D | 0.986 |
| 1:54733672:T:A | W314R | 0.986 |
| 1:54733672:T:C | W314R | 0.986 |
| 1:54722713:G:C | A170P | 0.985 |
| 1:54717576:G:A | G105D | 0.984 |
| 1:54717638:G:C | A126P | 0.984 |
| 1:54721198:G:C | A143P | 0.982 |
dbSNP variants (sampled 300 via entrez): RS1000162021 (1:54730026 A>G), RS1000189006 (1:54719220 G>A), RS1000235241 (1:54732455 T>C,G), RS1000291350 (1:54726390 A>C), RS1000363913 (1:54726040 A>C), RS1000889200 (1:54737433 C>T), RS1000976834 (1:54718566 A>G), RS1001163720 (1:54731784 T>G), RS1001278133 (1:54732022 G>A), RS1001391709 (1:54724742 T>G), RS1001597126 (1:54718086 A>C,G), RS1001941720 (1:54736049 C>T), RS1002109186 (1:54737800 C>T), RS1002169926 (1:54738245 C>A,T), RS1002213250 (1:54733160 A>AAT)
Disease associations
OMIM: gene MIM:606753 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| beta-lapachone | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Acetaminophen | affects expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Particulate Matter | increases abundance, increases 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.