CPNE8
gene geneOn this page
Summary
CPNE8 (copine 8, HGNC:23498) is a protein-coding gene on chromosome 12q12, encoding Copine-8 (Q86YQ8). Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus.
Source: NCBI Gene 144402 — RefSeq curated summary.
At a glance
- GWAS associations: 21
- Clinical variants (ClinVar): 57 total
- MANE Select transcript:
NM_153634
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23498 |
| Approved symbol | CPNE8 |
| Name | copine 8 |
| Location | 12q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000139117 |
| Ensembl biotype | protein_coding |
| Entrez | 144402 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 5 protein_coding, 5 protein_coding_CDS_not_defined
ENST00000331366, ENST00000360449, ENST00000538596, ENST00000546603, ENST00000547417, ENST00000549842, ENST00000550863, ENST00000551855, ENST00000552259, ENST00000862791
RefSeq mRNA: 1 — MANE Select: NM_153634
NM_153634
CCDS: CCDS8733
Canonical transcript exons
ENST00000331366 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001098349 | 38767635 | 38767738 |
| ENSE00001326921 | 38905437 | 38905591 |
| ENSE00001628967 | 38723772 | 38723833 |
| ENSE00001678586 | 38685490 | 38685617 |
| ENSE00002377339 | 38724846 | 38724899 |
| ENSE00002394433 | 38652203 | 38654070 |
| ENSE00003470844 | 38839916 | 38839955 |
| ENSE00003483869 | 38675717 | 38675774 |
| ENSE00003508238 | 38873004 | 38873050 |
| ENSE00003566435 | 38848559 | 38848662 |
| ENSE00003568665 | 38762112 | 38762216 |
| ENSE00003587218 | 38874471 | 38874511 |
| ENSE00003594426 | 38829379 | 38829455 |
| ENSE00003610232 | 38760847 | 38760888 |
| ENSE00003618238 | 38702875 | 38702921 |
| ENSE00003619166 | 38776238 | 38776301 |
| ENSE00003643056 | 38730283 | 38730358 |
| ENSE00003650104 | 38693657 | 38693838 |
| ENSE00003655783 | 38670729 | 38670802 |
| ENSE00003659731 | 38677452 | 38677554 |
Expression profiles
Bgee: expression breadth ubiquitous, 233 present calls, max score 92.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5059 / max 428.2626, expressed in 1577 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130427 | 9.1617 | 1468 |
| 130428 | 5.6855 | 1424 |
| 130429 | 0.8082 | 418 |
| 130433 | 0.2684 | 117 |
| 130430 | 0.2507 | 112 |
| 130432 | 0.2145 | 87 |
| 130435 | 0.0860 | 25 |
| 130431 | 0.0308 | 11 |
Top tissues by expression
246 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 92.05 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.69 | gold quality |
| sperm | CL:0000019 | 90.43 | gold quality |
| monocyte | CL:0000576 | 89.15 | gold quality |
| leukocyte | CL:0000738 | 88.52 | gold quality |
| right atrium auricular region | UBERON:0006631 | 87.37 | gold quality |
| cardiac atrium | UBERON:0002081 | 87.24 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.10 | gold quality |
| right lung | UBERON:0002167 | 87.03 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 86.60 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 86.29 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.01 | gold quality |
| omental fat pad | UBERON:0010414 | 86.01 | gold quality |
| peritoneum | UBERON:0002358 | 85.99 | gold quality |
| rectum | UBERON:0001052 | 85.59 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 85.42 | gold quality |
| upper lobe of lung | UBERON:0008948 | 85.29 | gold quality |
| colonic epithelium | UBERON:0000397 | 85.21 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.14 | gold quality |
| pericardium | UBERON:0002407 | 84.48 | gold quality |
| endothelial cell | CL:0000115 | 83.96 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 83.88 | gold quality |
| mucosa of stomach | UBERON:0001199 | 83.86 | gold quality |
| lung | UBERON:0002048 | 83.80 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 83.80 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.59 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 83.05 | gold quality |
| tibial artery | UBERON:0007610 | 82.95 | gold quality |
| popliteal artery | UBERON:0002250 | 82.93 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.85 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-76312 | yes | 622.77 |
| E-GEOD-81608 | yes | 604.99 |
| E-CURD-119 | yes | 25.97 |
| E-ANND-3 | yes | 25.21 |
| E-GEOD-83139 | no | 547.98 |
| E-MTAB-7249 | no | 252.68 |
| E-MTAB-6678 | no | 3.39 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
184 targeting CPNE8, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
Literature-anchored findings (GeneRIF, showing 1)
- CPNE8 Promotes Gastric Cancer Metastasis by Modulating Focal Adhesion Pathway and Tumor Microenvironment. (PMID:35982908)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | CPNE8 | ENSDARG00000102191 |
| mus_musculus | Cpne8 | ENSMUSG00000052560 |
| rattus_norvegicus | Cpne8 | ENSRNOG00000026128 |
| caenorhabditis_elegans | WBGENE00001577 | |
| caenorhabditis_elegans | WBGENE00012128 |
Paralogs (8): CPNE3 (ENSG00000085719), CPNE6 (ENSG00000100884), CPNE5 (ENSG00000124772), CPNE2 (ENSG00000140848), CPNE9 (ENSG00000144550), CPNE7 (ENSG00000178773), CPNE4 (ENSG00000196353), CPNE1 (ENSG00000214078)
Protein
Protein identifiers
Copine-8 — Q86YQ8 (reviewed: Q86YQ8)
Alternative names: Copine VIII
All UniProt accessions (3): Q86YQ8, E7ENV7, F8VZB5
UniProt curated annotations — full annotation on UniProt →
Function. Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes.
Cofactor. Binds 3 Ca(2+) ions per C2 domain.
Similarity. Belongs to the copine family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86YQ8-1 | 1 | yes |
| Q86YQ8-2 | 2 |
RefSeq proteins (1): NP_705898* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR002035 | VWF_A | Domain |
| IPR010734 | Copine_C | Domain |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR037768 | C2B_Copine | Domain |
| IPR045052 | Copine | Family |
Pfam: PF00168, PF07002
UniProt features (27 total): binding site 20, domain 3, chain 1, modified residue 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86YQ8-F1 | 88.19 | 0.67 |
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 (20): 101; 101; 104; 109; 111; 111; 173; 173; 179; 235; 235; 237 …
Post-translational modifications (1): 260
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013148 | CDC42 GTPase cycle |
| R-HSA-9013405 | RHOD GTPase cycle |
| R-HSA-9013406 | RHOQ GTPase cycle |
| R-HSA-9013409 | RHOJ GTPase cycle |
MSigDB gene sets: 230 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, AP1_01, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, chr12q12, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_NEUROGENESIS, GGGTGGRR_PAX4_03, GOBP_RESPONSE_TO_METAL_ION, WANG_RESPONSE_TO_BEXAROTENE_DN, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH
GO Biological Process (2): cellular response to calcium ion (GO:0071277), positive regulation of dendrite extension (GO:1903861)
GO Molecular Function (3): calcium-dependent phospholipid binding (GO:0005544), metal ion binding (GO:0046872), protein binding (GO:0005515)
GO Cellular Component (2): plasma membrane (GO:0005886), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 4 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to calcium ion | 1 |
| cellular response to metal ion | 1 |
| positive regulation of cell growth | 1 |
| positive regulation of developmental growth | 1 |
| dendrite extension | 1 |
| regulation of dendrite extension | 1 |
| phospholipid binding | 1 |
| cation binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CPNE8 | VSTM2L | Q96N03 | 476 |
| CPNE8 | POPDC3 | Q9HBV1 | 462 |
| CPNE8 | ZNF385B | Q569K4 | 458 |
| CPNE8 | RCAN2 | Q14206 | 427 |
| CPNE8 | CBLN2 | Q8IUK8 | 426 |
| CPNE8 | ANLN | Q9NQW6 | 425 |
| CPNE8 | SMIM12 | Q96EX1 | 419 |
| CPNE8 | SYT10 | Q6XYQ8 | 418 |
| CPNE8 | GNG4 | P50150 | 416 |
| CPNE8 | SPON1 | Q9HCB6 | 410 |
| CPNE8 | CNTNAP2 | Q9UHC6 | 410 |
| CPNE8 | CNTN4 | Q8IWV2 | 400 |
| CPNE8 | MSRB3 | Q8IXL7 | 396 |
| CPNE8 | NR4A2 | P43354 | 380 |
| CPNE8 | SERGEF | Q9UGK8 | 379 |
IntAct
60 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SORBS3 | CPNE8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CPNE8 | NECAB1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC25A41 | NUDT19 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM185A | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| SCRIB | CPNE8 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CPNE8 | MPI | psi-mi:“MI:0915”(physical association) | 0.400 |
| CPNE5 | CPNE8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CTDSPL2 | ELOC | psi-mi:“MI:0914”(association) | 0.350 |
| ARRB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| RNF213 | GNB1 | psi-mi:“MI:0914”(association) | 0.350 |
| CSPP1 | DCTN6 | psi-mi:“MI:0914”(association) | 0.350 |
| CPNE8 | Bgn | psi-mi:“MI:0914”(association) | 0.350 |
| CSAG2 | CAMK2D | psi-mi:“MI:0914”(association) | 0.350 |
| ANLN | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| MCM7 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC23 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| SRSF7 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| SNAPC1 | RP2 | psi-mi:“MI:0914”(association) | 0.350 |
| OGDHL | RP2 | psi-mi:“MI:0914”(association) | 0.350 |
| CACYBP | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CACYBP | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPRIN1 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CFL2 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CSDE1 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| EIF4A1 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
| TSC22D3 | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (126): CPNE8 (Affinity Capture-RNA), CPNE8 (Affinity Capture-RNA), CPNE8 (Affinity Capture-RNA), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), EIF3I (Co-fractionation), NDUFS1 (Co-fractionation), CPNE8 (Proximity Label-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS), CPNE8 (Affinity Capture-MS)
ESM2 similar proteins: A0JJX5, A2WWV5, A2X479, B6ETT4, B8XCH5, O49303, O49435, O64492, O65554, P59108, Q0JBH9, Q0JHU5, Q0VE82, Q1RLL3, Q25AG5, Q5BJS7, Q6YWF1, Q7XA06, Q84TJ7, Q86YQ8, Q8BLR2, Q8IYJ1, Q8L706, Q8LFN9, Q8RXU9, Q944C1, Q96A23, Q96FN4, Q9C6B7, Q9C8S6, Q9C8Y2, Q9DC53, Q9FHP6, Q9FI32, Q9FIK8, Q9FJG3, Q9FL59, Q9FVJ3, Q9LP65, Q9LVH4
Diamond homologs: A8WMY4, D4A1R8, H1UBN0, H2KYS8, O75131, O95741, P59108, Q08DB4, Q0VE82, Q1RLL3, Q1ZXB3, Q2KHY1, Q54FY7, Q54P51, Q55GG1, Q5BJS7, Q5R4W6, Q5RAE1, Q5S1W2, Q5XQC7, Q7YXU4, Q86K21, Q86YQ8, Q8BLR2, Q8BT60, Q8C166, Q8IYJ1, Q8JZW4, Q941L3, Q96A23, Q96FN4, Q99829, Q9DC53, Q9HCH3, Q9UBL6, Q9XUB9, Q9Z140, A0JJX5, Q09219, Q12466
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 62 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 |
|---|---|---|---|
| Signaling by RAF1 mutants | 5 | 34.0× | 1e-05 |
| Signaling by moderate kinase activity BRAF mutants | 5 | 30.9× | 1e-05 |
| Paradoxical activation of RAF signaling by kinase inactive BRAF | 5 | 30.9× | 1e-05 |
| Signaling downstream of RAS mutants | 5 | 30.9× | 1e-05 |
| Signaling by BRAF and RAF1 fusions | 5 | 20.8× | 6e-05 |
| RAF/MAP kinase cascade | 7 | 10.4× | 6e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ubiquitin-dependent protein catabolic process | 6 | 8.1× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4366 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:38654067:CAAA:C | acceptor_gain | 1.0000 |
| 12:38670723:TCTTA:T | donor_loss | 1.0000 |
| 12:38670724:CTTA:C | donor_loss | 1.0000 |
| 12:38670725:TTA:T | donor_loss | 1.0000 |
| 12:38670726:TA:T | donor_loss | 1.0000 |
| 12:38670728:CCTG:C | donor_gain | 1.0000 |
| 12:38670798:CATTG:C | acceptor_gain | 1.0000 |
| 12:38670799:ATTG:A | acceptor_gain | 1.0000 |
| 12:38670800:TTG:T | acceptor_gain | 1.0000 |
| 12:38670801:TG:T | acceptor_gain | 1.0000 |
| 12:38670801:TGC:T | acceptor_loss | 1.0000 |
| 12:38670803:C:A | acceptor_loss | 1.0000 |
| 12:38670803:C:CC | acceptor_gain | 1.0000 |
| 12:38670804:T:C | acceptor_gain | 1.0000 |
| 12:38670805:T:C | acceptor_gain | 1.0000 |
| 12:38677450:A:AC | donor_gain | 1.0000 |
| 12:38677451:C:CC | donor_gain | 1.0000 |
| 12:38679583:A:AC | donor_gain | 1.0000 |
| 12:38679584:C:CC | donor_gain | 1.0000 |
| 12:38685628:T:C | acceptor_gain | 1.0000 |
| 12:38702867:ACACT:A | donor_loss | 1.0000 |
| 12:38702868:CACT:C | donor_loss | 1.0000 |
| 12:38702869:ACTC:A | donor_loss | 1.0000 |
| 12:38702870:CT:C | donor_loss | 1.0000 |
| 12:38702872:C:CG | donor_loss | 1.0000 |
| 12:38702873:A:AC | donor_gain | 1.0000 |
| 12:38702873:A:AG | donor_loss | 1.0000 |
| 12:38702874:C:CC | donor_gain | 1.0000 |
| 12:38702874:C:T | donor_loss | 1.0000 |
| 12:38705208:T:TA | donor_gain | 1.0000 |
AlphaMissense
3716 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:38654068:A:C | F503L | 1.000 |
| 12:38654068:A:T | F503L | 1.000 |
| 12:38654070:A:G | F503L | 1.000 |
| 12:38670790:A:G | L482S | 1.000 |
| 12:38675721:A:C | F476L | 1.000 |
| 12:38675721:A:T | F476L | 1.000 |
| 12:38675723:A:G | F476L | 1.000 |
| 12:38675734:C:T | G472E | 1.000 |
| 12:38675735:C:G | G472R | 1.000 |
| 12:38675735:C:T | G472R | 1.000 |
| 12:38675740:C:T | G470D | 1.000 |
| 12:38675741:C:G | G470R | 1.000 |
| 12:38675746:A:T | I468K | 1.000 |
| 12:38677498:T:A | D443V | 1.000 |
| 12:38677510:A:G | L439P | 1.000 |
| 12:38677513:A:G | L438P | 1.000 |
| 12:38693705:A:C | F365L | 1.000 |
| 12:38693705:A:T | F365L | 1.000 |
| 12:38693707:A:G | F365L | 1.000 |
| 12:38693709:C:T | G364E | 1.000 |
| 12:38702876:G:C | N320K | 1.000 |
| 12:38702876:G:T | N320K | 1.000 |
| 12:38702886:G:A | T317I | 1.000 |
| 12:38702891:A:C | D315E | 1.000 |
| 12:38702891:A:T | D315E | 1.000 |
| 12:38702892:T:A | D315V | 1.000 |
| 12:38730344:C:T | G246E | 1.000 |
| 12:38762164:A:G | W210R | 1.000 |
| 12:38762164:A:T | W210R | 1.000 |
| 12:38653992:C:G | A529P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000011004 (12:38853922 C>A,T), RS1000031331 (12:38808191 G>A), RS1000031880 (12:38902050 G>A), RS1000034419 (12:38664631 G>A), RS1000039302 (12:38713292 C>T), RS1000060097 (12:38769575 G>C), RS1000091690 (12:38752526 A>G), RS1000095394 (12:38671396 C>A), RS1000103417 (12:38682549 A>G), RS1000104751 (12:38766458 T>A), RS1000112533 (12:38866920 G>A,T), RS1000116432 (12:38707277 G>A), RS1000151593 (12:38791411 T>A), RS1000154216 (12:38682854 T>C), RS1000161529 (12:38661749 A>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
21 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001969_21 | Heart rate | 4.000000e-09 |
| GCST002783_441 | Body mass index | 1.000000e-07 |
| GCST002783_517 | Body mass index | 7.000000e-08 |
| GCST004139_14 | Bipolar disorder | 4.000000e-07 |
| GCST005788_26 | Heart rate response to recovery post exercise | 2.000000e-07 |
| GCST005789_22 | Resting heart rate | 8.000000e-07 |
| GCST006304_11 | Irritable bowel syndrome | 3.000000e-06 |
| GCST007565_158 | Morning person | 5.000000e-43 |
| GCST007565_196 | Morning person | 6.000000e-29 |
| GCST007565_207 | Morning person | 2.000000e-39 |
| GCST007565_210 | Morning person | 1.000000e-40 |
| GCST007565_63 | Morning person | 1.000000e-17 |
| GCST007565_76 | Morning person | 2.000000e-43 |
| GCST007565_78 | Morning person | 4.000000e-43 |
| GCST007576_335 | Chronotype | 2.000000e-43 |
| GCST007672_2 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 5.000000e-07 |
| GCST007672_9 | 3-month functional outcome in ischaemic stroke (modified Rankin score) | 6.000000e-07 |
| GCST008097_2 | Bisphosphonate-associated atypical femoral fracture | 2.000000e-06 |
| GCST008403_9 | Arterial stiffness index | 3.000000e-06 |
| GCST008522_57 | Bitter alcoholic beverage consumption | 8.000000e-07 |
| GCST010989_38 | Body size at age 10 | 3.000000e-12 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0009185 | heart rate response to recovery post exercise |
| EFO:0008328 | chronotype measurement |
| EFO:0009603 | stroke outcome severity measurement |
| EFO:0009958 | response to bisphosphonate |
| EFO:0009960 | atypical femoral fracture |
| EFO:0004517 | arterial stiffness measurement |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | affects cotreatment, decreases methylation, decreases expression | 2 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Arsenic | increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | 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 | increases expression, affects cotreatment | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
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): irritable bowel syndrome