CEP70
gene geneOn this page
Also known as BITEFLJ13036
Summary
CEP70 (centrosomal protein 70, HGNC:29972) is a protein-coding gene on chromosome 3q22.3, encoding Centrosomal protein of 70 kDa (Q8NHQ1). Plays a role in the organization of both preexisting and nascent microtubules in interphase cells.
Enables identical protein binding activity. Predicted to be involved in cilium assembly and regulation of microtubule cytoskeleton organization. Located in centrosome.
Source: NCBI Gene 80321 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 108 total
- MANE Select transcript:
NM_024491
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29972 |
| Approved symbol | CEP70 |
| Name | centrosomal protein 70 |
| Location | 3q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BITE, FLJ13036 |
| Ensembl gene | ENSG00000114107 |
| Ensembl biotype | protein_coding |
| OMIM | 614310 |
| Entrez | 80321 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 28 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000264982, ENST00000459695, ENST00000460967, ENST00000462419, ENST00000464035, ENST00000468900, ENST00000470159, ENST00000474781, ENST00000478673, ENST00000481834, ENST00000484888, ENST00000485115, ENST00000489254, ENST00000882528, ENST00000882529, ENST00000882530, ENST00000882531, ENST00000882532, ENST00000882533, ENST00000882534, ENST00000882535, ENST00000923048, ENST00000923049, ENST00000923050, ENST00000923051, ENST00000923052, ENST00000923053, ENST00000923054, ENST00000968169, ENST00000968170
RefSeq mRNA: 8 — MANE Select: NM_024491
NM_001288964, NM_001288965, NM_001288966, NM_001288967, NM_001320598, NM_001320599, NM_001320600, NM_024491
CCDS: CCDS3102, CCDS75022, CCDS75023, CCDS75024, CCDS82842
Canonical transcript exons
ENST00000264982 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001234062 | 138498031 | 138498110 |
| ENSE00001234070 | 138500110 | 138500224 |
| ENSE00001234076 | 138500399 | 138500567 |
| ENSE00001234084 | 138500735 | 138500881 |
| ENSE00001234089 | 138505295 | 138505465 |
| ENSE00001234092 | 138508439 | 138508544 |
| ENSE00001234106 | 138529199 | 138529287 |
| ENSE00001234110 | 138529375 | 138529462 |
| ENSE00001296820 | 138494344 | 138495076 |
| ENSE00001871979 | 138594198 | 138594260 |
| ENSE00003488824 | 138537178 | 138537347 |
| ENSE00003549068 | 138571266 | 138571356 |
| ENSE00003582780 | 138591854 | 138591956 |
| ENSE00003676297 | 138570318 | 138570498 |
| ENSE00003677172 | 138532514 | 138532570 |
| ENSE00003686624 | 138571034 | 138571157 |
| ENSE00003787670 | 138525490 | 138525564 |
| ENSE00003800729 | 138572859 | 138572932 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 96.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.6722 / max 387.5476, expressed in 1589 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44761 | 10.5121 | 1587 |
| 44762 | 0.1601 | 65 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.52 | gold quality |
| sperm | CL:0000019 | 95.98 | gold quality |
| right uterine tube | UBERON:0001302 | 95.92 | gold quality |
| ventricular zone | UBERON:0003053 | 95.03 | gold quality |
| left testis | UBERON:0004533 | 93.80 | gold quality |
| right testis | UBERON:0004534 | 93.58 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.87 | gold quality |
| testis | UBERON:0000473 | 92.69 | gold quality |
| male germ cell | CL:0000015 | 92.47 | gold quality |
| body of pancreas | UBERON:0001150 | 92.03 | gold quality |
| duodenum | UBERON:0002114 | 91.35 | gold quality |
| tendon | UBERON:0000043 | 91.27 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.79 | gold quality |
| buccal mucosa cell | CL:0002336 | 90.72 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.71 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 90.58 | gold quality |
| secondary oocyte | CL:0000655 | 90.56 | gold quality |
| thyroid gland | UBERON:0002046 | 90.10 | gold quality |
| pancreas | UBERON:0001264 | 89.44 | gold quality |
| left ovary | UBERON:0002119 | 89.39 | gold quality |
| endocervix | UBERON:0000458 | 89.12 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.01 | gold quality |
| adenohypophysis | UBERON:0002196 | 88.62 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.34 | gold quality |
| right ovary | UBERON:0002118 | 88.30 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.08 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.04 | gold quality |
| rectum | UBERON:0001052 | 87.76 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.62 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-79 | yes | 233.73 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting CEP70, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-8084 | 99.73 | 69.57 | 1760 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
Literature-anchored findings (GeneRIF, showing 10)
- These results thus report for the first time the identification of Cep70 as an important centrosomal protein that interacts with gamma-tubulin and underscore its critical role in the regulation of mitotic spindle assembly. (PMID:21795687)
- data showed that Cep70 increased the microtubule length without affecting the microtubule number in the purified system; results demonstrate that Cep70 could directly regulate microtubule assembly by promoting microtubule elongation instead of microtubule nucleation (PMID:22427462)
- findings suggest that Cep70 promotes microtubule stability by interaction with HDAC6 and regulation of tubulin acetylation (PMID:26112604)
- Cep70 overexpression stimulates pancreatic cancer by inducing centrosome abnormality and microtubule disorganization (PMID:26893288)
- these results demonstrate a critical role for Cep70 in the development and progression of breast cancer. (PMID:28063737)
- Cep70 interacts with tubulin, and promotes the ability of paclitaxel to stimulate microtubule assembly. These data demonstrate that Cep70 mediates paclitaxel sensitivity in breast cancer. (PMID:28632150)
- Loss of CEP70 function affects acrosome biogenesis and flagella formation during spermiogenesis. (PMID:33980814)
- Identification of biallelic variations of CEP70 in patients with male infertility. (PMID:36967801)
- BiTE secretion by adoptively transferred stem-like T cells improves FRalpha+ ovarian cancer control. (PMID:37647218)
- Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters. (PMID:38122899)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cep70 | ENSDARG00000076965 |
| mus_musculus | Cep70 | ENSMUSG00000056267 |
| rattus_norvegicus | Cep70 | ENSRNOG00000022845 |
Protein
Protein identifiers
Centrosomal protein of 70 kDa — Q8NHQ1 (reviewed: Q8NHQ1)
Alternative names: p10-binding protein
All UniProt accessions (8): A0A140VJG2, B7Z2D2, C9J0F4, C9J710, C9J966, C9JZ04, Q8NHQ1, H7C4Y6
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the organization of both preexisting and nascent microtubules in interphase cells. During mitosis, required for the organization and orientation of the mitotic spindle.
Subunit / interactions. Directly interacts with tubulin-gamma; this interaction determines centrosomal localization.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Domain organisation. The coiled-coil domains may be important for tubulin-gamma-binding and hence for centrosomal localization.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NHQ1-1 | 1 | yes |
| Q8NHQ1-2 | 2 | |
| Q8NHQ1-3 | 3 | |
| Q8NHQ1-4 | 4 | |
| Q8NHQ1-5 | 5 |
RefSeq proteins (8): NP_001275893, NP_001275894, NP_001275895, NP_001275896, NP_001307527, NP_001307528, NP_001307529, NP_077817* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019734 | TPR_rpt | Repeat |
| IPR037692 | CEP70 | Family |
UniProt features (19 total): sequence conflict 7, splice variant 5, sequence variant 2, coiled-coil region 2, chain 1, repeat 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NHQ1-F1 | 76.91 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
16 pathways
| ID | Pathway |
|---|---|
| R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| R-HSA-8854518 | AURKA Activation by TPX2 |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-1852241 | Organelle biogenesis and maintenance |
| R-HSA-380287 | Centrosome maturation |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-5617833 | Cilium Assembly |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 174 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_VESICLE_ORGANIZATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_MALE_GAMETE_GENERATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_SECRETORY_GRANULE_ORGANIZATION, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, FISCHER_G2_M_CELL_CYCLE, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOCC_CENTROSOME, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ACROSOME_ASSEMBLY
GO Biological Process (2): cilium assembly (GO:0060271), regulation of microtubule cytoskeleton organization (GO:0070507)
GO Molecular Function (3): identical protein binding (GO:0042802), gamma-tubulin binding (GO:0043015), protein binding (GO:0005515)
GO Cellular Component (5): centrosome (GO:0005813), microtubule organizing center (GO:0005815), cytosol (GO:0005829), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-10 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 3 |
| Centrosome maturation | 2 |
| Cell Cycle, Mitotic | 2 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 1 |
| Mitotic Prometaphase | 1 |
| Assembly of the 9+0 primary cilium | 1 |
| Organelle biogenesis and maintenance | 1 |
| M Phase | 1 |
| Mitotic G2-G2/M phases | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| microtubule cytoskeleton organization | 1 |
| regulation of microtubule-based process | 1 |
| regulation of cytoskeleton organization | 1 |
| protein binding | 1 |
| tubulin binding | 1 |
| binding | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| microtubule cytoskeleton | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1000 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEP70 | CD19 | P15391 | 979 |
| CEP70 | CD33 | P20138 | 751 |
| CEP70 | FOLH1 | Q04609 | 732 |
| CEP70 | GPRC5D | Q9NZD1 | 705 |
| CEP70 | TNFRSF17 | Q02223 | 684 |
| CEP70 | EGFR | P00533 | 658 |
| CEP70 | ERBB2 | P04626 | 643 |
| CEP70 | CD22 | P20273 | 622 |
| CEP70 | CD47 | Q08722 | 606 |
| CEP70 | EPCAM | P16422 | 605 |
| CEP70 | CEACAM5 | P06731 | 602 |
| CEP70 | TNFRSF9 | Q07011 | 587 |
| CEP70 | CD274 | Q9NZQ7 | 581 |
| CEP70 | CXXC1 | Q9P0U4 | 563 |
| CEP70 | CSPG4 | Q6UVK1 | 562 |
IntAct
1008 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP70 | CDC73 | psi-mi:“MI:0915”(physical association) | 0.850 |
| ZNF408 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.840 |
| CEP70 | UTP25 | psi-mi:“MI:0915”(physical association) | 0.830 |
| ZNF366 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.830 |
| UTP25 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.830 |
| CEP70 | ZNF366 | psi-mi:“MI:0915”(physical association) | 0.830 |
| PRPF31 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.810 |
| ZGPAT | CEP70 | psi-mi:“MI:0915”(physical association) | 0.810 |
| CEP70 | PRPF31 | psi-mi:“MI:0915”(physical association) | 0.810 |
| AKAP17A | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | TSGA10IP | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | TXLNB | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | ZNF329 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | ZNF227 | psi-mi:“MI:0915”(physical association) | 0.780 |
| LENG1 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CDCA7L | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| METTL17 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ARHGEF3 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZNF490 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | AKAP17A | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZNF329 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ZNF227 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | LENG1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CEP70 | CDCA7L | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRIM29 | CEP70 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CEP70 | ZBTB49 | psi-mi:“MI:0915”(physical association) | 0.740 |
BioGRID (364): CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid), CEP70 (Two-hybrid)
ESM2 similar proteins: A0JMQ7, A0JP75, A1A600, A2BGP7, B1A193, B1WBU8, B2RPU2, G9G127, H2MTR9, O88869, Q0VFN8, Q2TAA8, Q32LC2, Q3ULW6, Q3UP38, Q4R7V1, Q4V7B0, Q5EB20, Q5JU67, Q5PQQ9, Q5RDE3, Q5U4W1, Q5XIR4, Q61043, Q6AXZ4, Q6IP02, Q6IQY5, Q6IRU7, Q6NRK1, Q6NRX3, Q6PA69, Q6ZQ12, Q7Z3E5, Q86YF9, Q86YS3, Q8BIJ7, Q8BQP8, Q8CGZ2, Q8CJ96, Q8K342
Diamond homologs: Q4R7V1, Q5PQQ9, Q5RDE3, Q6IQY5, Q8NHQ1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 105 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 |
|---|---|---|---|
| mRNA Splicing - Major Pathway | 10 | 10.1× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
108 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3310 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:138500221:CTAT:C | acceptor_gain | 1.0000 |
| 3:138505289:CCTTA:C | donor_loss | 1.0000 |
| 3:138505290:CTTA:C | donor_loss | 1.0000 |
| 3:138505291:TTA:T | donor_loss | 1.0000 |
| 3:138505292:TAC:T | donor_loss | 1.0000 |
| 3:138508433:CAATA:C | donor_loss | 1.0000 |
| 3:138508434:AATAC:A | donor_loss | 1.0000 |
| 3:138508435:ATACC:A | donor_loss | 1.0000 |
| 3:138508436:TACCT:T | donor_loss | 1.0000 |
| 3:138508437:ACCTG:A | donor_loss | 1.0000 |
| 3:138508438:CCTGA:C | donor_loss | 1.0000 |
| 3:138508461:AGGG:A | donor_gain | 1.0000 |
| 3:138508540:GTAAT:G | acceptor_gain | 1.0000 |
| 3:138508541:TAAT:T | acceptor_gain | 1.0000 |
| 3:138508543:AT:A | acceptor_gain | 1.0000 |
| 3:138508545:C:CC | acceptor_gain | 1.0000 |
| 3:138525488:A:AC | donor_gain | 1.0000 |
| 3:138525489:C:CC | donor_gain | 1.0000 |
| 3:138525489:CTTGA:C | donor_gain | 1.0000 |
| 3:138525491:TG:T | donor_gain | 1.0000 |
| 3:138529284:ATGA:A | acceptor_gain | 1.0000 |
| 3:138529285:TGA:T | acceptor_gain | 1.0000 |
| 3:138529287:AC:A | acceptor_loss | 1.0000 |
| 3:138529288:C:CC | acceptor_gain | 1.0000 |
| 3:138537176:A:AC | donor_gain | 1.0000 |
| 3:138537177:C:CC | donor_gain | 1.0000 |
| 3:138537177:CTGT:C | donor_gain | 1.0000 |
| 3:138537256:T:TA | donor_gain | 1.0000 |
| 3:138570831:C:CC | acceptor_gain | 1.0000 |
| 3:138571028:TCTCA:T | donor_loss | 1.0000 |
AlphaMissense
3981 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:138505321:A:G | W399R | 0.995 |
| 3:138505321:A:T | W399R | 0.995 |
| 3:138498045:A:G | L573P | 0.992 |
| 3:138571341:A:G | W29R | 0.990 |
| 3:138571341:A:T | W29R | 0.990 |
| 3:138500505:A:C | F477L | 0.985 |
| 3:138500505:A:T | F477L | 0.985 |
| 3:138500507:A:G | F477L | 0.985 |
| 3:138498077:A:C | F562L | 0.984 |
| 3:138498077:A:T | F562L | 0.984 |
| 3:138498079:A:G | F562L | 0.984 |
| 3:138500419:A:G | L506P | 0.983 |
| 3:138571339:C:A | W29C | 0.982 |
| 3:138571339:C:G | W29C | 0.982 |
| 3:138505318:C:G | A400P | 0.979 |
| 3:138571058:A:G | L87P | 0.979 |
| 3:138498065:A:C | F566L | 0.978 |
| 3:138498065:A:T | F566L | 0.978 |
| 3:138498067:A:G | F566L | 0.978 |
| 3:138495055:A:T | I585N | 0.977 |
| 3:138505319:C:A | W399C | 0.976 |
| 3:138505319:C:G | W399C | 0.976 |
| 3:138498066:A:G | F566S | 0.975 |
| 3:138500509:A:G | L476S | 0.973 |
| 3:138495034:A:G | L592S | 0.972 |
| 3:138498033:A:G | L577S | 0.972 |
| 3:138500473:C:G | R488P | 0.972 |
| 3:138500517:G:C | F473L | 0.972 |
| 3:138500517:G:T | F473L | 0.972 |
| 3:138500519:A:G | F473L | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000005889 (3:138513430 T>G), RS1000007382 (3:138537680 A>G), RS1000079825 (3:138557666 G>T), RS1000093204 (3:138503392 T>C), RS1000102623 (3:138509418 G>A,T), RS1000142859 (3:138513051 G>C), RS1000162696 (3:138560533 C>A,G), RS1000240548 (3:138540334 A>G), RS1000355330 (3:138525215 G>T), RS1000359984 (3:138527664 C>T), RS1000364975 (3:138574623 C>T), RS1000372577 (3:138518675 C>A), RS1000382923 (3:138573811 T>A,C), RS1000384523 (3:138525019 G>A), RS1000423000 (3:138534310 A>G)
Disease associations
OMIM: gene MIM:614310 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005919_1 | Exhaled carbon monoxide levels in smokers with chronic obstructive pulmonary disease | 8.000000e-08 |
| GCST006661_139 | Male-pattern baldness | 3.000000e-19 |
| GCST012490_497 | Femur bone mineral density x serum urate levels interaction | 2.000000e-08 |
| GCST012490_94 | Femur bone mineral density x serum urate levels interaction | 4.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006520 | carbon monoxide exhalation measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 8 |
| trichostatin A | decreases expression, increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| sodium arsenite | affects expression, affects cotreatment, decreases expression, increases abundance | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Acetaminophen | increases expression | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 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.