CCDC80
geneOn this page
Also known as URBSSG1DRO1CL2TCONS_00006930
Summary
CCDC80 (coiled-coil domain containing 80, HGNC:30649) is a protein-coding gene on chromosome 3q13.2, encoding Coiled-coil domain-containing protein 80 (Q76M96). Promotes cell adhesion and matrix assembly.
Predicted to enable fibronectin binding activity and heparin binding activity. Predicted to be involved in extracellular matrix organization and positive regulation of cell-substrate adhesion. Predicted to act upstream of or within response to bacterium. Predicted to be located in extracellular region; interstitial matrix; and membrane. Predicted to be active in basement membrane.
Source: NCBI Gene 151887 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 150 total
- MANE Select transcript:
NM_199511
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30649 |
| Approved symbol | CCDC80 |
| Name | coiled-coil domain containing 80 |
| Location | 3q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | URB, SSG1, DRO1, CL2, TCONS_00006930 |
| Ensembl gene | ENSG00000091986 |
| Ensembl biotype | protein_coding |
| OMIM | 608298 |
| Entrez | 151887 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000206423, ENST00000439685, ENST00000461431, ENST00000469554, ENST00000473959, ENST00000475181, ENST00000479368, ENST00000480275, ENST00000880155, ENST00000962650, ENST00000962651
RefSeq mRNA: 2 — MANE Select: NM_199511
NM_199511, NM_199512
CCDS: CCDS2968
Canonical transcript exons
ENST00000206423 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000967575 | 112616710 | 112616858 |
| ENSE00000967576 | 112609978 | 112610081 |
| ENSE00000967577 | 112607176 | 112607256 |
| ENSE00001076481 | 112618968 | 112619104 |
| ENSE00001076482 | 112630113 | 112630269 |
| ENSE00001200029 | 112638028 | 112639916 |
| ENSE00001358983 | 112640327 | 112641143 |
| ENSE00003703733 | 112596797 | 112605763 |
Expression profiles
Bgee: expression breadth ubiquitous, 251 present calls, max score 99.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 169.7153 / max 8088.8722, expressed in 1411 samples.
FANTOM5 promoters (21 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43814 | 97.8146 | 1103 |
| 43812 | 37.4259 | 1089 |
| 43813 | 17.1909 | 1068 |
| 43815 | 6.4361 | 1207 |
| 43797 | 1.8808 | 688 |
| 43805 | 1.6534 | 367 |
| 43798 | 1.6302 | 583 |
| 43794 | 0.8668 | 291 |
| 43803 | 0.8559 | 379 |
| 43795 | 0.8200 | 265 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parietal pleura | UBERON:0002400 | 99.75 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.58 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.51 | gold quality |
| upper arm skin | UBERON:0004263 | 99.36 | gold quality |
| skin of hip | UBERON:0001554 | 99.34 | gold quality |
| gall bladder | UBERON:0002110 | 99.34 | gold quality |
| vena cava | UBERON:0004087 | 98.99 | gold quality |
| saphenous vein | UBERON:0007318 | 98.56 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.50 | gold quality |
| tibia | UBERON:0000979 | 98.49 | gold quality |
| upper leg skin | UBERON:0004262 | 98.49 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.45 | gold quality |
| peritoneum | UBERON:0002358 | 98.36 | gold quality |
| omental fat pad | UBERON:0010414 | 98.35 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 98.33 | gold quality |
| body of uterus | UBERON:0009853 | 98.31 | gold quality |
| colonic epithelium | UBERON:0000397 | 98.24 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.21 | gold quality |
| right coronary artery | UBERON:0001625 | 98.18 | gold quality |
| myometrium | UBERON:0001296 | 98.13 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.09 | gold quality |
| pericardium | UBERON:0002407 | 98.04 | gold quality |
| apex of heart | UBERON:0002098 | 98.03 | gold quality |
| caecum | UBERON:0001153 | 97.98 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.88 | gold quality |
| tendon | UBERON:0000043 | 97.87 | gold quality |
| endocervix | UBERON:0000458 | 97.84 | gold quality |
| adipose tissue | UBERON:0001013 | 97.84 | gold quality |
| visceral pleura | UBERON:0002401 | 97.64 | gold quality |
| coronary artery | UBERON:0001621 | 97.62 | gold quality |
Single-cell (SCXA)
Detected in 23 experiment(s), a significant marker in 21.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8322 | yes | 2712.52 |
| E-HCAD-15 | yes | 2693.90 |
| E-MTAB-8530 | yes | 2479.31 |
| E-CURD-126 | yes | 2323.50 |
| E-HCAD-36 | yes | 2197.76 |
| E-MTAB-8142 | yes | 2159.75 |
| E-MTAB-8410 | yes | 1996.41 |
| E-HCAD-11 | yes | 1140.59 |
| E-MTAB-10662 | yes | 567.05 |
| E-MTAB-10137 | yes | 540.80 |
| E-MTAB-8205 | yes | 310.09 |
| E-HCAD-1 | yes | 90.98 |
| E-GEOD-135922 | yes | 47.17 |
| E-HCAD-10 | yes | 35.84 |
| E-MTAB-10287 | yes | 31.68 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NCOA3
miRNA regulators (miRDB)
70 targeting CCDC80, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
Literature-anchored findings (GeneRIF, showing 15)
- Downregulated during osteoblastic differentiation of bone marrow stromal cells. Suggests role in skeletogenesis. (PMID:15325258)
- URB is expressed in human dermal papilla cells (PMID:15998583)
- In conclusion, the expression pattern of URB suggests its role in obesity and the results suggest that URB is secreted, at least in part, from adipocytes. (PMID:18178152)
- The CCDC80 protein has three P-DUDES structural domains. These domains have significant albeit remote sequence similarity to thioredoxin-like domains and are predicted to have an oxidoreductase function. (PMID:209648)
- Results reveal DRO1 as an AIB1-targeted tumor suppressor, providing a novel mechanism for AIB1-dependent inhibition of apoptosis. (PMID:21871888)
- Data suggest that CCDC80 expression is down-regulated in many thyroid carcinomas; loss of heterozygosity partially accounts for CCDC80 down-regulation in thyroid carcinoma; CCDC80 expression positively regulates expression of E-cadherin. (PMID:23666966)
- activation of PKGI with cGMP regulated SSG1 intracellular distribution. (PMID:23831687)
- Ccdc80 is a novel betacat-regulated gene in adrenocortical cells (PMID:25029241)
- Our finding of upregulated CCDC80 expression in the visceral adipose tissue of obese patients indicates that it may be a component of the obesity-altered secretome in this depot. Furthermore, the presence of CCDC80 protein in human serum and its association with systemic metabolic dysfunction suggests that it may be linked to metabolic changes in other organs. (PMID:28850155)
- The authors identified that CCDC80 has genetic and functional relevance to Intracranial Aneurysm pathogenesis in the French-Canadian population. (PMID:29531279)
- LINC01279 and MSC-AS1 were upregulated in endometriosis. LINC01279 may be associated with the pathogenesis of endometriosis. (PMID:30106115)
- Plasma asprosin, CCDC80 and ANGPTL4 levels are associated with metabolic and cardiovascular risk in patients with inflammatory bowel disease. (PMID:33676388)
- The expression of long non-coding RNA LINC01279 in gastric adenocarcinoma and its clinical significance. (PMID:34507839)
- Loss of DRO1/CCDC80 in the tumor microenvironment promotes carcinogenesis. (PMID:35422964)
- Silencing immune-infiltrating biomarker CCDC80 inhibits malignant characterization and tumor formation in gastric cancer. (PMID:38872096)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ccdc80 | ENSMUSG00000022665 |
| rattus_norvegicus | Ccdc80 | ENSRNOG00000002052 |
Protein
Protein identifiers
Coiled-coil domain-containing protein 80 — Q76M96 (reviewed: Q76M96)
Alternative names: Down-regulated by oncogenes protein 1, Up-regulated in BRS-3 deficient mouse homolog
All UniProt accessions (3): Q76M96, C9J8I6, H7C5K4
UniProt curated annotations — full annotation on UniProt →
Function. Promotes cell adhesion and matrix assembly.
Subunit / interactions. Binds to various extracellular matrix proteins.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Expressed in dermal papilla and dermal fibroblasts (at protein level). Expressed in heart, thymus, placenta, pancreas, colon, epithelium, spleen and osteoblasts.
Post-translational modifications. Phosphorylated.
Induction. Down-regulated in cancer and after osteoblastic differentiation. Up-regulated by dihydrotestosterone (DHT).
Similarity. Belongs to the CCDC80 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q76M96-1 | 1 | yes |
| Q76M96-2 | 2 | |
| Q76M96-3 | 3 |
RefSeq proteins (2): NP_955805, NP_955806 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR025232 | DUF4174 | Domain |
Pfam: PF13778
UniProt features (24 total): compositionally biased region 10, sequence conflict 4, region of interest 3, cross-link 2, splice variant 2, signal peptide 1, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q76M96-F1 | 62.51 | 0.28 |
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 (2): 545, 548
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 213 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, TERAMOTO_OPN_TARGETS_CLUSTER_6, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, KOYAMA_SEMA3B_TARGETS_UP, TGCTGAY_UNKNOWN, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, TCF11_01, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, OCT1_07, GGGNNTTTCC_NFKB_Q6_01, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, ARGGGTTAA_UNKNOWN
GO Biological Process (3): response to bacterium (GO:0009617), positive regulation of cell-substrate adhesion (GO:0010811), extracellular matrix organization (GO:0030198)
GO Molecular Function (3): fibronectin binding (GO:0001968), heparin binding (GO:0008201), glycosaminoglycan binding (GO:0005539)
GO Cellular Component (5): basement membrane (GO:0005604), interstitial matrix (GO:0005614), extracellular region (GO:0005576), membrane (GO:0016020), extracellular matrix (GO:0031012)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| extracellular matrix | 2 |
| cellular anatomical structure | 2 |
| response to other organism | 1 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| extracellular structure organization | 1 |
| external encapsulating structure organization | 1 |
| protein binding | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| carbohydrate derivative binding | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1658 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC80 | BRS3 | P32247 | 917 |
| CCDC80 | CHI3L1 | P30923 | 477 |
| CCDC80 | CCL19 | Q99731 | 474 |
| CCDC80 | TRAM2 | Q15035 | 457 |
| CCDC80 | ZNF628 | Q5EBL2 | 447 |
| CCDC80 | OR10A3 | P58181 | 446 |
| CCDC80 | ADRA2C | P18825 | 443 |
| CCDC80 | GDNF | P39905 | 442 |
| CCDC80 | IL18 | Q14116 | 432 |
| CCDC80 | OXT | P01178 | 427 |
| CCDC80 | NTRK2 | Q16620 | 424 |
| CCDC80 | SDC1 | P18827 | 423 |
| CCDC80 | LRRC32 | Q14392 | 414 |
| CCDC80 | SRPX | P78539 | 411 |
| CCDC80 | MMP12 | P39900 | 403 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| PPP2R3A | WTIP | psi-mi:“MI:0914”(association) | 0.640 |
| CSN2 | CRYBB3 | psi-mi:“MI:0914”(association) | 0.530 |
| ISX | MOCS3 | psi-mi:“MI:0914”(association) | 0.530 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| PCNA | CCDC80 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCDC80 | GCNT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCDC80 | TFAP2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| CCDC80 | TFAP2C | psi-mi:“MI:0915”(physical association) | 0.370 |
| DLST | psi-mi:“MI:0914”(association) | 0.350 | |
| CUL4B | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARHGAP19 | IFIT5 | psi-mi:“MI:0914”(association) | 0.350 |
| PARP12 | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| REXO4 | ZNF316 | psi-mi:“MI:0914”(association) | 0.350 |
| SATB2 | CRYBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| THAP11 | XPC | psi-mi:“MI:0914”(association) | 0.350 |
| GATA2 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): CCDC80 (Affinity Capture-MS), CCDC80 (Affinity Capture-MS), CCDC80 (Affinity Capture-RNA), CCDC80 (Affinity Capture-MS), CCDC80 (Affinity Capture-MS), CCDC80 (Affinity Capture-MS), VCL (Cross-Linking-MS (XL-MS)), NPM1 (Cross-Linking-MS (XL-MS)), CCDC80 (Cross-Linking-MS (XL-MS)), CCDC80 (Affinity Capture-MS)
ESM2 similar proteins: A1XQX3, A1XQY0, A1XQY3, A6QLD2, D0PRN4, E9PUN2, O35181, O35464, O93279, O94933, O94991, P05067, P08592, P12023, P15379, P15943, P49415, P53601, P56975, P58401, P79307, Q06335, Q06481, Q27394, Q3UH99, Q3V1G4, Q58EG3, Q5IS80, Q5R3F8, Q60495, Q63376, Q68BL8, Q68FM6, Q6DR98, Q6QD51, Q6ZSJ9, Q76KF0, Q76M96, Q7TMB7, Q810B7
Diamond homologs: A0A1D5NSM8, B5DF94, O60687, P08607, P0C6B8, P42201, P78539, P98109, Q2VPA4, Q3SYW2, Q5EA25, Q63769, Q6GP28, Q6QD51, Q76M96, Q8R054, Q8R2G6, Q9R0M3, P04186, P16109, P98105, O08569, P0DTN2, P24083, P24084, P79138, Q01227, Q29RN8, Q4V9Z5, Q60736, Q6AX42, Q6UXD5, Q7TSY4, Q8AXP2, Q90X49, Q95LG1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
150 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 125 |
| Likely benign | 13 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1252 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:112605759:GCTCC:G | acceptor_gain | 1.0000 |
| 3:112605760:CTCC:C | acceptor_gain | 1.0000 |
| 3:112605760:CTCCC:C | acceptor_gain | 1.0000 |
| 3:112605761:TCC:T | acceptor_gain | 1.0000 |
| 3:112605761:TCCCT:T | acceptor_gain | 1.0000 |
| 3:112605762:CC:C | acceptor_gain | 1.0000 |
| 3:112605762:CCC:C | acceptor_gain | 1.0000 |
| 3:112605763:CC:C | acceptor_gain | 1.0000 |
| 3:112605764:C:CC | acceptor_gain | 1.0000 |
| 3:112605764:CTAG:C | acceptor_loss | 1.0000 |
| 3:112605765:T:A | acceptor_loss | 1.0000 |
| 3:112607202:C:CA | donor_gain | 1.0000 |
| 3:112607203:C:A | donor_gain | 1.0000 |
| 3:112607211:T:TA | donor_gain | 1.0000 |
| 3:112607255:ACC:A | acceptor_loss | 1.0000 |
| 3:112607256:CCTGA:C | acceptor_loss | 1.0000 |
| 3:112616854:TATTG:T | acceptor_gain | 1.0000 |
| 3:112616855:ATTG:A | acceptor_gain | 1.0000 |
| 3:112616856:TTG:T | acceptor_gain | 1.0000 |
| 3:112616857:TG:T | acceptor_gain | 1.0000 |
| 3:112616859:C:CC | acceptor_gain | 1.0000 |
| 3:112616859:C:G | acceptor_loss | 1.0000 |
| 3:112616860:T:G | acceptor_loss | 1.0000 |
| 3:112618962:CTGTA:C | donor_loss | 1.0000 |
| 3:112618963:TGTAC:T | donor_loss | 1.0000 |
| 3:112618964:GTACC:G | donor_loss | 1.0000 |
| 3:112618965:TAC:T | donor_loss | 1.0000 |
| 3:112618966:A:AC | donor_gain | 1.0000 |
| 3:112618966:A:AT | donor_loss | 1.0000 |
| 3:112618967:C:A | donor_loss | 1.0000 |
AlphaMissense
6244 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:112605533:A:G | C913R | 1.000 |
| 3:112605670:A:G | L867P | 1.000 |
| 3:112605531:G:C | C913W | 0.999 |
| 3:112605532:C:G | C913S | 0.999 |
| 3:112605533:A:T | C913S | 0.999 |
| 3:112605565:T:A | E902V | 0.999 |
| 3:112605566:C:T | E902K | 0.999 |
| 3:112605618:C:A | W884C | 0.999 |
| 3:112605618:C:G | W884C | 0.999 |
| 3:112605620:A:G | W884R | 0.999 |
| 3:112605620:A:T | W884R | 0.999 |
| 3:112605635:A:C | Y879D | 0.999 |
| 3:112605641:A:G | S877P | 0.999 |
| 3:112605642:T:A | K876N | 0.999 |
| 3:112605642:T:G | K876N | 0.999 |
| 3:112605657:T:A | K871N | 0.999 |
| 3:112605657:T:G | K871N | 0.999 |
| 3:112605658:T:A | K871I | 0.999 |
| 3:112605664:A:T | V869D | 0.999 |
| 3:112605667:A:G | L868P | 0.999 |
| 3:112605709:C:G | R854P | 0.999 |
| 3:112607229:A:G | L818P | 0.999 |
| 3:112607235:A:G | L816P | 0.999 |
| 3:112607251:G:T | R811S | 0.999 |
| 3:112609985:G:C | C806W | 0.999 |
| 3:112609986:C:G | C806S | 0.999 |
| 3:112609986:C:T | C806Y | 0.999 |
| 3:112609987:A:G | C806R | 0.999 |
| 3:112609987:A:T | C806S | 0.999 |
| 3:112610050:A:G | S785P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000050615 (3:112600973 T>C), RS1000164831 (3:112625510 C>A,G), RS1000165382 (3:112605038 G>A), RS1000252157 (3:112630387 T>C), RS1000339204 (3:112618502 G>T), RS1000474972 (3:112618287 G>A), RS1000528714 (3:112610556 C>T), RS1000578238 (3:112643013 A>C), RS1000768574 (3:112623777 G>A,C), RS1000919042 (3:112597736 C>T), RS1000962887 (3:112636683 T>C), RS1001017829 (3:112604317 A>G), RS1001031068 (3:112629869 C>G,T), RS1001101915 (3:112637001 G>A), RS1001253089 (3:112629057 C>T)
Disease associations
OMIM: gene MIM:608298 | 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 |
|---|---|---|
| GCST001709_11 | Atopic dermatitis | 2.000000e-19 |
| GCST005576_2 | Intracranial aneurysm | 5.000000e-07 |
| GCST007680_10 | Triiodothyronine levels and thyroxine levels | 4.000000e-06 |
| GCST008839_509 | Height | 1.000000e-15 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008392 | triiodothyronine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 3 |
| Tobacco Smoke Pollution | decreases expression | 3 |
| bisphenol A | decreases methylation, increases expression | 2 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| (+)-JQ1 compound | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Estradiol | affects expression, affects cotreatment, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| lead acetate | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| didecyldimethylammonium | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| cupric oxide | 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 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0TT | Ubigene Hep G2 CCDC80 KO | Cancer cell line | Male |
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): atopic eczema, brain aneurysm