CCT6B
gene geneOn this page
Also known as Cctz2TSA303
Summary
CCT6B (chaperonin containing TCP1 subunit 6B, HGNC:1621) is a protein-coding gene on chromosome 17q12, encoding Probable T-complex protein 1 subunit zeta-2 (Q92526). Could function as a component of a tissue-specific chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis.
This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10693 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 93 total
- MANE Select transcript:
NM_006584
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1621 |
| Approved symbol | CCT6B |
| Name | chaperonin containing TCP1 subunit 6B |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Cctz2, TSA303 |
| Ensembl gene | ENSG00000132141 |
| Ensembl biotype | protein_coding |
| OMIM | 610730 |
| Entrez | 10693 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron
ENST00000314144, ENST00000421975, ENST00000436961, ENST00000577307, ENST00000585073, ENST00000885297, ENST00000885298
RefSeq mRNA: 3 — MANE Select: NM_006584
NM_001193529, NM_001193530, NM_006584
CCDS: CCDS32617, CCDS54105, CCDS54106
Canonical transcript exons
ENST00000314144 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000903595 | 34939183 | 34939330 |
| ENSE00000903596 | 34939617 | 34939713 |
| ENSE00000903600 | 34951950 | 34952053 |
| ENSE00000903602 | 34958560 | 34958694 |
| ENSE00000903604 | 34961257 | 34961460 |
| ENSE00001017481 | 34942796 | 34942906 |
| ENSE00001409265 | 34927861 | 34928117 |
| ENSE00001631822 | 34942484 | 34942643 |
| ENSE00001681555 | 34959587 | 34959650 |
| ENSE00003557224 | 34928962 | 34929034 |
| ENSE00003604854 | 34930949 | 34931051 |
| ENSE00003648802 | 34940539 | 34940621 |
| ENSE00003666799 | 34954426 | 34954599 |
| ENSE00003674411 | 34932367 | 34932500 |
Expression profiles
Bgee: expression breadth ubiquitous, 210 present calls, max score 97.58.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0106 / max 202.0861, expressed in 878 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165322 | 0.9064 | 449 |
| 165320 | 0.6525 | 311 |
| 165323 | 0.3165 | 124 |
| 165321 | 0.1004 | 27 |
| 165324 | 0.0348 | 7 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 97.58 | gold quality |
| male germ cell | CL:0000015 | 97.04 | gold quality |
| left testis | UBERON:0004533 | 96.59 | gold quality |
| right testis | UBERON:0004534 | 95.97 | gold quality |
| testis | UBERON:0000473 | 94.59 | gold quality |
| adult organism | UBERON:0007023 | 94.11 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.94 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 81.22 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.27 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.20 | gold quality |
| gastrocnemius | UBERON:0001388 | 76.54 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 76.38 | gold quality |
| muscle of leg | UBERON:0001383 | 76.21 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 75.55 | gold quality |
| mucosa of stomach | UBERON:0001199 | 74.78 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 74.35 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 74.06 | silver quality |
| nasopharynx | UBERON:0001728 | 74.05 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 74.02 | gold quality |
| tibia | UBERON:0000979 | 73.35 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 73.30 | gold quality |
| right adrenal gland | UBERON:0001233 | 73.10 | gold quality |
| tibialis anterior | UBERON:0001385 | 73.08 | silver quality |
| left adrenal gland | UBERON:0001234 | 72.93 | gold quality |
| bronchial epithelial cell | CL:0002328 | 72.60 | gold quality |
| corpus epididymis | UBERON:0004359 | 72.09 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 71.97 | gold quality |
| right uterine tube | UBERON:0001302 | 71.68 | gold quality |
| stromal cell of endometrium | CL:0002255 | 71.47 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 71.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.50 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ESR1
miRNA regulators (miRDB)
22 targeting CCT6B, 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-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
| HSA-MIR-548AV-3P | 99.43 | 68.50 | 1721 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-1244 | 99.33 | 68.38 | 832 |
| HSA-MIR-296-3P | 99.21 | 66.56 | 474 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-548L | 99.06 | 70.90 | 2560 |
| HSA-MIR-452-3P | 99.01 | 66.25 | 1241 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-3144-3P | 98.15 | 67.34 | 677 |
| HSA-MIR-8055 | 97.62 | 66.09 | 1023 |
| HSA-MIR-3667-5P | 97.16 | 64.87 | 591 |
| HSA-MIR-3672 | 94.46 | 65.67 | 646 |
| HSA-MIR-6864-3P | 94.46 | 65.97 | 625 |
Literature-anchored findings (GeneRIF, showing 2)
- antagonistic actions of PhLP3 and prefoldin serve to modulate CCT activity and play a key role in establishing a functional cytoskeleton in vivo (PMID:16415341)
- Describes the cloning of a very similar protein in mouse. (PMID:9013858)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cct6a | ENSDARG00000021252 |
| mus_musculus | Cct6b | ENSMUSG00000020698 |
| rattus_norvegicus | Cct6b | ENSRNOG00000007523 |
| drosophila_melanogaster | CCT6 | FBGN0027329 |
| caenorhabditis_elegans | WBGENE00000381 |
Paralogs (13): PIKFYVE (ENSG00000115020), CCT4 (ENSG00000115484), TCP1 (ENSG00000120438), MKKS (ENSG00000125863), CCT7 (ENSG00000135624), HSPD1 (ENSG00000144381), CCT6A (ENSG00000146731), CCT5 (ENSG00000150753), CCT8 (ENSG00000156261), CCT3 (ENSG00000163468), CCT2 (ENSG00000166226), BBS12 (ENSG00000181004), CCT8L2 (ENSG00000198445)
Protein
Protein identifiers
Probable T-complex protein 1 subunit zeta-2 — Q92526 (reviewed: Q92526)
Alternative names: CCT-zeta-2, CCT-zeta-like, Chaperonin containing T-complex polypeptide 1 subunit 6B, TCP-1-zeta-like, Testis-specific Tcp20, Testis-specific protein TSA303
All UniProt accessions (2): Q92526, J3KRI6
UniProt curated annotations — full annotation on UniProt →
Function. Could function as a component of a tissue-specific chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis.
Subunit / interactions. Could be a component of a tissue-specific chaperonin-containing T-complex (TRiC), a hexadecamer composed of two identical back-to-back stacked rings enclosing a protein folding chamber. Each ring is made up of eight different subunits: TCP1/CCT1, CCT2, CCT3, CCT4, CCT5, CCT6, CCT7, CCT8.
Subcellular location. Cytoplasm.
Tissue specificity. Testis-specific.
Similarity. Belongs to the TCP-1 chaperonin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92526-1 | 1 | yes |
| Q92526-2 | 2 | |
| Q92526-3 | 3 |
RefSeq proteins (3): NP_001180458, NP_001180459, NP_006575* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002194 | Chaperonin_TCP-1_CS | Conserved_site |
| IPR002423 | Cpn60/GroEL/TCP-1 | Family |
| IPR012722 | Chap_CCT_zeta | Family |
| IPR017998 | TCP-1 | Family |
| IPR027409 | GroEL-like_apical_dom_sf | Homologous_superfamily |
| IPR027410 | TCP-1-like_intermed_sf | Homologous_superfamily |
| IPR027413 | GROEL-like_equatorial_sf | Homologous_superfamily |
| IPR053374 |
Pfam: PF00118
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (21 total): binding site 9, sequence conflict 6, sequence variant 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92526-F1 | 89.98 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (9): 39; 90; 91; 92; 93; 411; 412; 496; 501
Function
Pathways and Gene Ontology
Reactome pathways
9 pathways
| ID | Pathway |
|---|---|
| R-HSA-389957 | Prefoldin mediated transfer of substrate to CCT/TriC |
| R-HSA-389960 | Formation of tubulin folding intermediates by CCT/TriC |
| R-HSA-390450 | Folding of actin by CCT/TriC |
| R-HSA-390471 | Association of TriC/CCT with target proteins during biosynthesis |
| R-HSA-6814122 | Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding |
| R-HSA-389958 | Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding |
| R-HSA-390466 | Chaperonin-mediated protein folding |
| R-HSA-391251 | Protein folding |
| R-HSA-392499 | Metabolism of proteins |
MSigDB gene sets: 141 (showing top):
BROWNE_HCMV_INFECTION_4HR_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, NFE2_01, MGGAAGTG_GABP_B, GOMF_UNFOLDED_PROTEIN_BINDING, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, FOSTER_KDM1A_TARGETS_UP
GO Biological Process (1): protein folding (GO:0006457)
GO Molecular Function (7): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), protein folding chaperone (GO:0044183), obsolete unfolded protein binding (GO:0051082), ATP-dependent protein folding chaperone (GO:0140662), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), chaperonin-containing T-complex (GO:0005832), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 3 |
| Chaperonin-mediated protein folding | 3 |
| Protein folding | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| molecular_function | 1 |
| protein folding | 1 |
| protein folding chaperone | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cytosol | 1 |
| protein folding chaperone complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2792 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCT6B | CCT5 | P48643 | 748 |
| CCT6B | CCT2 | P78371 | 731 |
| CCT6B | CCT3 | P49368 | 719 |
| CCT6B | CCT4 | P50991 | 589 |
| CCT6B | CCT8 | P50990 | 574 |
| CCT6B | CCT7 | Q99832 | 555 |
| CCT6B | TCP1 | P17987 | 541 |
| CCT6B | TUBA8 | Q9NY65 | 511 |
| CCT6B | RPA1 | P27694 | 504 |
| CCT6B | JADE1 | Q6IE81 | 498 |
| CCT6B | TUBA4A | P05215 | 440 |
| CCT6B | TEX30 | Q5JUR7 | 402 |
| CCT6B | KIF3A | Q9Y496 | 393 |
| CCT6B | C1orf185 | Q5T7R7 | 391 |
| CCT6B | HSPA4L | O95757 | 390 |
IntAct
281 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HDAC1 | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.840 |
| SEPTIN12 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.830 |
| HDAC1 | TNRC18 | psi-mi:“MI:0914”(association) | 0.790 |
| MOB4 | STK25 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| BUB3 | ZNF207 | psi-mi:“MI:0914”(association) | 0.690 |
| TUBA1B | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| DCTN5 | DCTN6 | psi-mi:“MI:0914”(association) | 0.640 |
| PDCL3 | PEX7 | psi-mi:“MI:0914”(association) | 0.640 |
| GNB1 | GNG7 | psi-mi:“MI:0914”(association) | 0.640 |
| TUBA1C | CCT6A | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT5 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| LOXL4 | CCT6B | psi-mi:“MI:0915”(physical association) | 0.620 |
| ACTBL2 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF8 | DCAF8L1 | psi-mi:“MI:0914”(association) | 0.530 |
| DYNC2I2 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC8A | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXW4 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.530 |
| TUBG2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.530 |
| HCFC2 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| GNB2 | PFDN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF5 | PFDN6 | psi-mi:“MI:0914”(association) | 0.530 |
| DCAF11 | GNPAT | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC2 | PFDN1 | psi-mi:“MI:0914”(association) | 0.530 |
| THOC3 | CLUH | psi-mi:“MI:0914”(association) | 0.530 |
| MRPL38 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| TUBB2A | EML2 | psi-mi:“MI:0914”(association) | 0.530 |
| EIPR1 | LDHC | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (297): CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6B (Affinity Capture-MS)
ESM2 similar proteins: O04450, O15891, O77622, O94515, P12612, P28769, P39078, P39079, P40227, P40412, P40413, P42943, P46550, P47208, P47209, P48643, P50991, P50999, P53451, P54409, P54411, P80315, P80316, P80317, P87153, Q2T9X2, Q3MHL7, Q3T084, Q4R6V2, Q54ER7, Q54TD3, Q5R637, Q5RCD2, Q5RF02, Q5ZJ54, Q61390, Q68FQ0, Q6C100, Q6CL82, Q6FQT2
Diamond homologs: A1TKQ5, A1W3W8, A9BXL3, B9MDC5, C0Z361, O04450, O15891, O24730, O24731, O24732, O24734, O24735, O26320, O26885, O28045, O28821, O30560, O30561, O57762, O74341, O77622, O93624, O94515, P21240, P28488, P39079, P40227, P40412, P40413, P46219, P46550, P47209, P48424, P48425, P48643, P50016, P50157, P50991, P53451, P54411
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 198 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 |
|---|---|---|---|
| Formation of tubulin folding intermediates by CCT/TriC | 13 | 43.3× | 2e-16 |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 13 | 41.8× | 2e-16 |
| Prefoldin mediated transfer of substrate to CCT/TriC | 13 | 40.3× | 3e-16 |
| Chaperonin-mediated protein folding | 14 | 33.1× | 3e-16 |
| Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane | 7 | 30.0× | 8e-08 |
| Transport of connexons to the plasma membrane | 7 | 30.0× | 8e-08 |
| Protein folding | 14 | 28.6× | 3e-15 |
| Association of TriC/CCT with target proteins during biosynthesis | 12 | 27.7× | 6e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of telomere maintenance via telomerase | 8 | 34.5× | 4e-08 |
| binding of sperm to zona pellucida | 5 | 12.4× | 4e-03 |
| microtubule cytoskeleton organization | 14 | 10.0× | 4e-08 |
| mitotic cell cycle | 12 | 9.4× | 1e-06 |
| protein folding | 13 | 7.9× | 2e-06 |
| protein stabilization | 15 | 5.9× | 6e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2528 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:34928113:CTGTG:C | acceptor_gain | 1.0000 |
| 17:34929032:CAC:C | acceptor_gain | 1.0000 |
| 17:34929033:ACCT:A | acceptor_loss | 1.0000 |
| 17:34929034:CCTGA:C | acceptor_loss | 1.0000 |
| 17:34929035:CTGAA:C | acceptor_loss | 1.0000 |
| 17:34930943:TCTTA:T | donor_loss | 1.0000 |
| 17:34930944:CTTA:C | donor_loss | 1.0000 |
| 17:34930945:TTA:T | donor_loss | 1.0000 |
| 17:34930946:TA:T | donor_loss | 1.0000 |
| 17:34930947:A:AG | donor_loss | 1.0000 |
| 17:34930948:C:CA | donor_loss | 1.0000 |
| 17:34931050:ACCT:A | acceptor_loss | 1.0000 |
| 17:34931053:T:A | acceptor_loss | 1.0000 |
| 17:34931393:T:A | donor_gain | 1.0000 |
| 17:34932362:TGTAC:T | donor_loss | 1.0000 |
| 17:34932364:TACC:T | donor_loss | 1.0000 |
| 17:34932365:ACC:A | donor_loss | 1.0000 |
| 17:34932421:T:TA | donor_gain | 1.0000 |
| 17:34932496:ACAAC:A | acceptor_gain | 1.0000 |
| 17:34932497:CAAC:C | acceptor_gain | 1.0000 |
| 17:34932497:CAACC:C | acceptor_gain | 1.0000 |
| 17:34932498:AAC:A | acceptor_gain | 1.0000 |
| 17:34932499:AC:A | acceptor_gain | 1.0000 |
| 17:34932499:ACCT:A | acceptor_loss | 1.0000 |
| 17:34932500:CCTA:C | acceptor_loss | 1.0000 |
| 17:34932500:CCTAT:C | acceptor_gain | 1.0000 |
| 17:34932501:C:CC | acceptor_gain | 1.0000 |
| 17:34932502:T:C | acceptor_loss | 1.0000 |
| 17:34932504:T:TC | acceptor_gain | 1.0000 |
| 17:34939176:AGCTT:A | donor_loss | 1.0000 |
AlphaMissense
3459 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:34958580:C:G | A106P | 0.995 |
| 17:34940557:T:A | K317I | 0.993 |
| 17:34932387:C:G | A443P | 0.991 |
| 17:34942490:A:C | N293K | 0.990 |
| 17:34942490:A:T | N293K | 0.990 |
| 17:34958675:G:T | A74D | 0.990 |
| 17:34942497:A:T | V291D | 0.989 |
| 17:34940563:C:G | R315T | 0.988 |
| 17:34940572:G:T | A312D | 0.987 |
| 17:34942829:A:G | L231P | 0.987 |
| 17:34954560:C:G | A126P | 0.987 |
| 17:34954572:C:G | G122R | 0.987 |
| 17:34954572:C:T | G122R | 0.987 |
| 17:34939648:C:T | G345E | 0.985 |
| 17:34940562:T:A | R315S | 0.985 |
| 17:34940562:T:G | R315S | 0.985 |
| 17:34940567:G:T | R314S | 0.985 |
| 17:34942500:A:T | V290D | 0.985 |
| 17:34942539:A:G | L277P | 0.985 |
| 17:34954559:G:T | A126E | 0.985 |
| 17:34958690:A:G | I69T | 0.984 |
| 17:34928085:T:A | D519V | 0.983 |
| 17:34940563:C:A | R315I | 0.983 |
| 17:34958666:A:T | I77K | 0.983 |
| 17:34961314:G:T | A27D | 0.983 |
| 17:34932393:C:G | A441P | 0.982 |
| 17:34942824:A:G | C233R | 0.982 |
| 17:34942889:A:T | V211D | 0.982 |
| 17:34958627:T:A | D90V | 0.982 |
| 17:34928117:G:C | C508W | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000049411 (17:34946617 G>T), RS1000096608 (17:34934598 A>T), RS1000108026 (17:34940154 G>A), RS1000125341 (17:34978523 C>T), RS1000173473 (17:34947631 C>T), RS1000266842 (17:34947874 C>A,G,T), RS1000321814 (17:34940441 T>C), RS1000331702 (17:34933615 T>C,G), RS1000400432 (17:34946300 C>T), RS1000585743 (17:34959238 C>T), RS1000732041 (17:34953014 T>C), RS1000811711 (17:34951877 G>T), RS1000816643 (17:34954651 A>C), RS1000827107 (17:34959279 A>C,G), RS1000935173 (17:34959438 T>A)
Disease associations
OMIM: gene MIM:610730 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_132 | Night sleep phenotypes | 2.000000e-07 |
| GCST003542_133 | Night sleep phenotypes | 4.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Silicon Dioxide | decreases expression | 2 |
| urushiol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| resorcinol | decreases expression | 1 |
| abrine | increases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Thimerosal | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Particulate Matter | 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.