TTC7B
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Summary
TTC7B (tetratricopeptide repeat domain 7B, HGNC:19858) is a protein-coding gene on chromosome 14q32.11, encoding Tetratricopeptide repeat protein 7B (Q86TV6). Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.
Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane.
Source: NCBI Gene 145567 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 133 total
- MANE Select transcript:
NM_001010854
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19858 |
| Approved symbol | TTC7B |
| Name | tetratricopeptide repeat domain 7B |
| Location | 14q32.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000165914 |
| Ensembl biotype | protein_coding |
| OMIM | 620060 |
| Entrez | 145567 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 12 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000328459, ENST00000553948, ENST00000553972, ENST00000554462, ENST00000554654, ENST00000555005, ENST00000555239, ENST00000555894, ENST00000556490, ENST00000556749, ENST00000556960, ENST00000557059, ENST00000557187, ENST00000557292, ENST00000557766, ENST00000919976, ENST00000919977, ENST00000963264, ENST00000963265, ENST00000963266
RefSeq mRNA: 3 — MANE Select: NM_001010854
NM_001010854, NM_001320421, NM_001401365
CCDS: CCDS32140
Canonical transcript exons
ENST00000328459 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000941125 | 90658304 | 90658387 |
| ENSE00001214462 | 90676523 | 90676660 |
| ENSE00001297705 | 90680472 | 90680535 |
| ENSE00001298819 | 90695500 | 90695578 |
| ENSE00001317652 | 90689540 | 90689712 |
| ENSE00001388803 | 90744792 | 90744922 |
| ENSE00001390457 | 90730075 | 90730196 |
| ENSE00001434205 | 90524564 | 90541589 |
| ENSE00002693320 | 90816175 | 90816430 |
| ENSE00003477514 | 90786174 | 90786328 |
| ENSE00003522180 | 90780738 | 90780906 |
| ENSE00003522377 | 90657174 | 90657278 |
| ENSE00003530818 | 90578106 | 90578308 |
| ENSE00003549299 | 90617929 | 90618045 |
| ENSE00003577596 | 90654993 | 90655110 |
| ENSE00003586899 | 90593486 | 90593626 |
| ENSE00003599048 | 90610742 | 90610839 |
| ENSE00003678948 | 90646951 | 90647023 |
| ENSE00003689939 | 90644048 | 90644208 |
| ENSE00003788774 | 90652841 | 90652898 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 98.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2648 / max 169.5902, expressed in 1682 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 144471 | 8.8044 | 1678 |
| 144472 | 0.4604 | 236 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lateral nuclear group of thalamus | UBERON:0002736 | 98.42 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.26 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.26 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.17 | gold quality |
| cerebellum | UBERON:0002037 | 97.95 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.51 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.38 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.19 | gold quality |
| cerebellar vermis | UBERON:0004720 | 96.91 | gold quality |
| amygdala | UBERON:0001876 | 96.57 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.53 | gold quality |
| frontal cortex | UBERON:0001870 | 96.24 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 96.13 | gold quality |
| neocortex | UBERON:0001950 | 96.09 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.63 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.27 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.16 | gold quality |
| hypothalamus | UBERON:0001898 | 95.10 | gold quality |
| caudate nucleus | UBERON:0001873 | 94.85 | gold quality |
| putamen | UBERON:0001874 | 94.82 | gold quality |
| muscle of leg | UBERON:0001383 | 94.78 | gold quality |
| Ammon’s horn | UBERON:0001954 | 94.78 | gold quality |
| brain | UBERON:0000955 | 94.68 | gold quality |
| pons | UBERON:0000988 | 94.57 | gold quality |
| forebrain | UBERON:0001890 | 94.37 | gold quality |
| temporal lobe | UBERON:0001871 | 94.20 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.15 | gold quality |
| ventricular zone | UBERON:0003053 | 94.09 | gold quality |
| lower esophagus | UBERON:0013473 | 94.08 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.00 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7303 | yes | 23.43 |
| E-ANND-3 | yes | 7.29 |
| E-MTAB-6678 | no | 4.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
67 targeting TTC7B, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| 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-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
Literature-anchored findings (GeneRIF, showing 3)
- associated with IS risk in the Spanish and combined data sets. Multiple independent lines of evidence therefore support the role of TTC7B in stroke susceptibility (PMID:22453632)
- 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. (PMID:33634591)
- TTC7B is a new prognostic biomarker in head and neck squamous cell carcinoma linked to immune infiltration and ferroptosis. (PMID:37990988)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ttc7b | ENSDARG00000061207 |
| mus_musculus | Ttc7b | ENSMUSG00000033530 |
| rattus_norvegicus | Ttc7b | ENSRNOG00000027300 |
| caenorhabditis_elegans | WBGENE00021444 |
Paralogs (14): IFT88 (ENSG00000032742), TTC7A (ENSG00000068724), TMTC4 (ENSG00000125247), TMTC1 (ENSG00000133687), TMTC3 (ENSG00000139324), TTC6 (ENSG00000139865), BBS4 (ENSG00000140463), TTC13 (ENSG00000143643), OGT (ENSG00000147162), CFAP70 (ENSG00000156042), TTC8 (ENSG00000165533), TTC16 (ENSG00000167094), TMTC2 (ENSG00000179104), TTC34 (ENSG00000215912)
Protein
Protein identifiers
Tetratricopeptide repeat protein 7B — Q86TV6 (reviewed: Q86TV6)
Alternative names: Tetratricopeptide repeat protein 7-like-1
All UniProt accessions (9): A0A0C4DGK5, Q86TV6, G3V3E4, G3V3H1, H0YIZ4, H0YJP9, H0YJS2, H0YK02, Q6PIF1
UniProt curated annotations — full annotation on UniProt →
Function. Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions.
Subunit / interactions. Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2). Interacts with PI4KA, interaction is direct. Interacts with EFR3 (EFR3A or EFR3B), interaction is direct. Interacts with HYCC (HYCC1 or HYCC2), interaction is direct. Association with the PI4K complex is strongly reduced by TMEM150A.
Subcellular location. Cytoplasm. Cytosol. Cell membrane.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86TV6-1 | 1 | yes |
| Q86TV6-2 | 2 |
RefSeq proteins (3): NP_001010854, NP_001307350, NP_001388294 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR045819 | TTC7_N | Domain |
| IPR051722 | Endocytosis_PI4K-reg_protein | Family |
Pfam: PF12895, PF13181, PF13424, PF19440
UniProt features (65 total): helix 37, repeat 11, modified residue 9, turn 5, chain 1, splice variant 1, strand 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5DSE | X-RAY DIFFRACTION | 2.9 |
| 9B9G | ELECTRON MICROSCOPY | 3.5 |
| 9OT6 | ELECTRON MICROSCOPY | 3.54 |
| 6BQ1 | ELECTRON MICROSCOPY | 3.6 |
| 9BAX | ELECTRON MICROSCOPY | 3.65 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86TV6-F1 | 85.55 | 0.62 |
Antibody-complex structures (SAbDab): 1 — 9OT6
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 (9): 160, 202, 625, 629, 630, 673, 677, 678, 681
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 149 (showing top):
GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, CACCAGC_MIR138, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, ATGTTAA_MIR302C, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, ACATTCC_MIR1_MIR206, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_LOCALIZATION_WITHIN_MEMBRANE
GO Biological Process (2): phosphatidylinositol phosphate biosynthetic process (GO:0046854), protein localization to plasma membrane (GO:0072659)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): cytosol (GO:0005829), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| glycerophospholipid biosynthetic process | 1 |
| protein localization to membrane | 1 |
| protein localization to cell periphery | 1 |
| binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
766 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TTC7B | HYCC1 | Q9BYI3 | 938 |
| TTC7B | EFR3B | Q9Y2G0 | 875 |
| TTC7B | TMEM150A | Q86TG1 | 666 |
| TTC7B | EFR3A | Q14156 | 630 |
| TTC7B | PI4KA | P42356 | 621 |
| TTC7B | HYCC2 | Q8IXS8 | 565 |
| TTC7B | PI4KB | P78405 | 532 |
| TTC7B | TMED6 | Q8WW62 | 493 |
| TTC7B | LARGE2 | Q8N3Y3 | 476 |
| TTC7B | TEX2 | Q8IWB9 | 475 |
| TTC7B | NCS1 | P36610 | 472 |
| TTC7B | COPZ2 | Q9P299 | 468 |
| TTC7B | SH3GLB2 | Q9NR46 | 461 |
| TTC7B | NKIRAS1 | Q9NYS0 | 449 |
| TTC7B | FAM181A | Q8N9Y4 | 443 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TTC7B | HYCC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTC7B | HYCC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTC7B | COG6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTC7B | RAB3IL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TTC7B | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD226 | MEN1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPC1 | SNAP23 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| RGS20 | PGP | psi-mi:“MI:0914”(association) | 0.350 |
| PI4KA | EFR3A | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| CENPM | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| RGS20 | KIF3B | psi-mi:“MI:0914”(association) | 0.350 |
| CIMIP5 | PI4KA | psi-mi:“MI:0914”(association) | 0.350 |
| PI4KA | GCLM | psi-mi:“MI:0914”(association) | 0.350 |
| POU3F1 | DUSP3 | psi-mi:“MI:0914”(association) | 0.350 |
| CTDSPL | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CFTR | UBA6 | psi-mi:“MI:2364”(proximity) | 0.270 |
| KCNK3 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TTC7B | HYCC2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TTC7B | COG6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TTC7B | HYCC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RAB3IL1 | TTC7B | psi-mi:“MI:0915”(physical association) | 0.000 |
| TTC7B | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): TTC7B (Proximity Label-MS), TTC7B (Affinity Capture-MS), TTC7B (Two-hybrid), TTC7B (Two-hybrid), TTC7B (Two-hybrid), TTC7B (Two-hybrid), RAB3IL1 (Two-hybrid), TTC7B (Affinity Capture-MS), TTC7B (Proximity Label-MS), TTC7B (Proximity Label-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS), TTC7B (Affinity Capture-MS)
ESM2 similar proteins: A1A5P5, A1L1K3, A7SUU7, B4JHK2, B4NKT1, E9Q6P5, F1QN74, P09913, P50748, Q0P5W1, Q14CX7, Q294E0, Q2KI89, Q32NR4, Q32PH0, Q3U0M1, Q4R6I5, Q4R6M4, Q5R629, Q5RE52, Q5U249, Q5ZKK3, Q60462, Q68F70, Q6AYP3, Q6PA97, Q6QI44, Q80VM3, Q86TV6, Q8BGB2, Q8BH74, Q8BTZ4, Q8BWZ3, Q8C0S4, Q8CIM8, Q8GZN1, Q8IYW2, Q8JGR7, Q8K368, Q8N3P4
Diamond homologs: E9Q6P5, Q86TV6, Q8BGB2, Q9ULT0, A1Z8E9, P39143, Q1JQ97, Q28G25, Q5CZ52, Q8C1Z7, Q96RK4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
133 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 116 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5630 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:90530573:T:C | acceptor_gain | 1.0000 |
| 14:90530573:T:TC | acceptor_gain | 1.0000 |
| 14:90644044:TTA:T | donor_loss | 1.0000 |
| 14:90644045:TACAT:T | donor_loss | 1.0000 |
| 14:90644046:A:AC | donor_gain | 1.0000 |
| 14:90644046:A:AG | donor_loss | 1.0000 |
| 14:90644047:C:CG | donor_gain | 1.0000 |
| 14:90644047:CA:C | donor_gain | 1.0000 |
| 14:90644047:CAT:C | donor_gain | 1.0000 |
| 14:90644047:CATG:C | donor_gain | 1.0000 |
| 14:90644047:CATGA:C | donor_gain | 1.0000 |
| 14:90644204:GGGAT:G | acceptor_gain | 1.0000 |
| 14:90644205:GGAT:G | acceptor_gain | 1.0000 |
| 14:90644205:GGATC:G | acceptor_gain | 1.0000 |
| 14:90644206:GAT:G | acceptor_gain | 1.0000 |
| 14:90644206:GATC:G | acceptor_gain | 1.0000 |
| 14:90644207:AT:A | acceptor_gain | 1.0000 |
| 14:90644207:ATC:A | acceptor_gain | 1.0000 |
| 14:90644208:TC:T | acceptor_gain | 1.0000 |
| 14:90644209:C:CC | acceptor_gain | 1.0000 |
| 14:90644209:CTG:C | acceptor_gain | 1.0000 |
| 14:90644210:T:A | acceptor_loss | 1.0000 |
| 14:90644210:T:G | acceptor_gain | 1.0000 |
| 14:90644212:G:GC | acceptor_gain | 1.0000 |
| 14:90644213:T:TC | acceptor_gain | 1.0000 |
| 14:90644214:T:C | acceptor_gain | 1.0000 |
| 14:90644214:T:TC | acceptor_gain | 1.0000 |
| 14:90644220:C:CT | acceptor_gain | 1.0000 |
| 14:90655111:C:CC | acceptor_gain | 1.0000 |
| 14:90657168:ACT:A | donor_loss | 1.0000 |
AlphaMissense
5441 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:90644138:A:G | L554P | 1.000 |
| 14:90655022:C:T | G477E | 1.000 |
| 14:90655023:C:A | G477W | 1.000 |
| 14:90655023:C:G | G477R | 1.000 |
| 14:90655023:C:T | G477R | 1.000 |
| 14:90658320:A:G | L407P | 1.000 |
| 14:90676569:A:G | L369P | 1.000 |
| 14:90680488:A:G | L333P | 1.000 |
| 14:90689696:A:G | L265P | 1.000 |
| 14:90695548:T:A | R243S | 1.000 |
| 14:90695548:T:G | R243S | 1.000 |
| 14:90695549:C:A | R243I | 1.000 |
| 14:90695549:C:G | R243T | 1.000 |
| 14:90816229:A:G | W23R | 1.000 |
| 14:90816229:A:T | W23R | 1.000 |
| 14:90541420:A:G | L827P | 0.999 |
| 14:90541499:A:G | W801R | 0.999 |
| 14:90541499:A:T | W801R | 0.999 |
| 14:90578206:C:T | G737D | 0.999 |
| 14:90578252:C:G | A722P | 0.999 |
| 14:90593498:A:G | W699R | 0.999 |
| 14:90593498:A:T | W699R | 0.999 |
| 14:90617960:A:G | W613R | 0.999 |
| 14:90617960:A:T | W613R | 0.999 |
| 14:90617968:A:G | L610P | 0.999 |
| 14:90644126:A:G | L558P | 0.999 |
| 14:90644129:A:G | L557P | 0.999 |
| 14:90644135:A:G | L555P | 0.999 |
| 14:90644199:C:G | A534P | 0.999 |
| 14:90646955:C:A | R529I | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000008122 (14:90595038 T>C), RS1000011347 (14:90540727 T>C), RS1000011448 (14:90556214 T>C), RS1000030651 (14:90626372 C>T), RS1000065861 (14:90601396 A>C), RS1000071397 (14:90686398 C>T), RS1000071849 (14:90799588 C>G,T), RS1000071957 (14:90729776 G>A), RS1000078934 (14:90692965 A>T), RS1000083776 (14:90778698 G>A), RS1000085598 (14:90533944 C>A,T), RS1000088273 (14:90548399 G>A,T), RS1000094617 (14:90713943 A>T), RS1000095427 (14:90736150 C>A), RS1000100458 (14:90686019 A>G)
Disease associations
OMIM: gene MIM:620060 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001272_9 | Cytomegalovirus antibody response | 9.000000e-06 |
| GCST002696_1 | Anxiety disorder | 6.000000e-06 |
| GCST004097_2 | Response to platinum-based neoadjuvant chemotherapy in cervical cancer | 7.000000e-06 |
| GCST004862_28 | Itch intensity from mosquito bite adjusted by bite size | 6.000000e-06 |
| GCST005956_47 | Waist-to-hip ratio adjusted for BMI | 7.000000e-07 |
| GCST005962_28 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 7.000000e-07 |
| GCST007505_12 | Nevus count or cutaneous melanoma | 4.000000e-07 |
| GCST007672_7 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 3.000000e-06 |
| GCST011768_11 | Schizophrenia | 6.000000e-09 |
| GCST90026412_4 | Severe autoimmune type 2 diabetes | 4.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007943 | response to platinum-based neoadjuvant chemotherapy |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0004632 | nevus count |
| EFO:0009603 | stroke outcome severity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 6 |
| bisphenol A | increases expression, increases methylation, affects cotreatment, decreases methylation, decreases expression | 4 |
| Aflatoxin B1 | affects expression, affects methylation, decreases expression | 4 |
| methylmercuric chloride | affects cotreatment, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Rotenone | increases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases methylation, affects cotreatment | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| aflatoxin B2 | increases methylation | 1 |
| acetochlor | affects methylation, increases abundance | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| pentabrominated diphenyl ether 100 | increases expression | 1 |
| hexabrominated diphenyl ether 153 | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9V6 | Ubigene HEK293 TTC7B KO | Transformed cell line | Female |
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): anxiety disorder, cutaneous melanoma