CCDC93
gene geneOn this page
Also known as FLJ10996
Summary
CCDC93 (CCC complex scaffolding subunit CCDC93, HGNC:25611) is a protein-coding gene on chromosome 2q14.1, encoding Coiled-coil domain-containing protein 93 (Q567U6). Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of composed of the CCC subcomplex and the retriever subcomplex.
Involved in Golgi to plasma membrane transport and endocytic recycling. Located in intracellular membrane-bounded organelle.
Source: NCBI Gene 54520 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 114 total
- MANE Select transcript:
NM_019044
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25611 |
| Approved symbol | CCDC93 |
| Name | CCC complex scaffolding subunit CCDC93 |
| Location | 2q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10996 |
| Ensembl gene | ENSG00000125633 |
| Ensembl biotype | protein_coding |
| OMIM | 620553 |
| Entrez | 54520 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 5 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000319432, ENST00000376300, ENST00000437999, ENST00000460781, ENST00000466171, ENST00000470650, ENST00000474006, ENST00000474546, ENST00000488908, ENST00000884938, ENST00000884939, ENST00000884940, ENST00000926449, ENST00000926450, ENST00000951763, ENST00000951764, ENST00000951765, ENST00000951766
RefSeq mRNA: 1 — MANE Select: NM_019044
NM_019044
CCDS: CCDS2121
Canonical transcript exons
ENST00000376300 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000857044 | 117945529 | 117945582 |
| ENSE00000857045 | 117946811 | 117946882 |
| ENSE00000857046 | 117948105 | 117948186 |
| ENSE00000963694 | 117958365 | 117958481 |
| ENSE00001130888 | 118000821 | 118000932 |
| ENSE00001470257 | 118006722 | 118006816 |
| ENSE00001470264 | 118008545 | 118008658 |
| ENSE00003476726 | 117936702 | 117936739 |
| ENSE00003501811 | 117939029 | 117939111 |
| ENSE00003559509 | 117977994 | 117978030 |
| ENSE00003582463 | 117935495 | 117935579 |
| ENSE00003585356 | 117995446 | 117995502 |
| ENSE00003597780 | 117974850 | 117974900 |
| ENSE00003603950 | 117931037 | 117931150 |
| ENSE00003609352 | 117973908 | 117973994 |
| ENSE00003631214 | 117985969 | 117986069 |
| ENSE00003639421 | 117996264 | 117996362 |
| ENSE00003641937 | 117949322 | 117949395 |
| ENSE00003644166 | 117941189 | 117941297 |
| ENSE00003647395 | 117952373 | 117952435 |
| ENSE00003655122 | 117975188 | 117975280 |
| ENSE00003665483 | 117944024 | 117944086 |
| ENSE00003843098 | 117915481 | 117920396 |
| ENSE00003849439 | 118013954 | 118014070 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 96.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0050 / max 228.4067, expressed in 1805 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30369 | 20.1155 | 1795 |
| 30370 | 2.4066 | 1263 |
| 30371 | 0.4829 | 270 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.60 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.34 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.36 | gold quality |
| tendon | UBERON:0000043 | 92.15 | gold quality |
| apex of heart | UBERON:0002098 | 92.05 | gold quality |
| right testis | UBERON:0004534 | 92.01 | gold quality |
| left testis | UBERON:0004533 | 91.92 | gold quality |
| pituitary gland | UBERON:0000007 | 91.55 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 91.43 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.30 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.18 | gold quality |
| testis | UBERON:0000473 | 90.95 | gold quality |
| right uterine tube | UBERON:0001302 | 90.74 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 90.68 | gold quality |
| tibial nerve | UBERON:0001323 | 90.60 | gold quality |
| rectum | UBERON:0001052 | 90.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.24 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.24 | gold quality |
| left ovary | UBERON:0002119 | 89.96 | gold quality |
| adrenal cortex | UBERON:0001235 | 89.89 | gold quality |
| parietal pleura | UBERON:0002400 | 89.79 | gold quality |
| body of pancreas | UBERON:0001150 | 89.76 | gold quality |
| left adrenal gland | UBERON:0001234 | 89.72 | gold quality |
| adrenal gland | UBERON:0002369 | 89.72 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.69 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.68 | gold quality |
| mucosa of stomach | UBERON:0001199 | 89.67 | gold quality |
| visceral pleura | UBERON:0002401 | 89.66 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.62 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
153 targeting CCDC93, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 2)
- A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor. (PMID:31630160)
- Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction. (PMID:39250516)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccdc93 | ENSDARG00000040678 |
| mus_musculus | Ccdc93 | ENSMUSG00000026339 |
| rattus_norvegicus | Ccdc93 | ENSRNOG00000002514 |
| drosophila_melanogaster | fidipidine | FBGN0025519 |
| caenorhabditis_elegans | WBGENE00007846 | |
| caenorhabditis_elegans | WBGENE00007847 | |
| caenorhabditis_elegans | WBGENE00015815 |
Protein
Protein identifiers
Coiled-coil domain-containing protein 93 — Q567U6 (reviewed: Q567U6)
All UniProt accessions (3): Q567U6, F8W9X7, H7C050
UniProt curated annotations — full annotation on UniProt →
Function. Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of composed of the CCC subcomplex and the retriever subcomplex. Component of the CCC complex, which is involved in the regulation of endosomal recycling of surface proteins, including integrins, signaling receptor and channels. The CCC complex associates with SNX17, retriever and WASH complexes to prevent lysosomal degradation and promote cell surface recycling of numerous cargos such as integrins ITGA5:ITGB1. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes and is dependent on its interaction with WASHC2C. (Microbial infection) The CCC complex, in collaboration with the heterotrimeric retriever complex, mediates the exit of human papillomavirus to the cell surface.
Subunit / interactions. Component of the commander complex consisting of the CCC subcomplex and the retriever subcomplex. Component of the CCC (COMMD/CCDC22/CCDC93) subcomplex consisting of COMMD1, COMMD2, COMMD3, COMMD4, COMMD5, COMMD6, COMMD7, COMMD8, COMMD9, COMMD10, CCDC22 and CCDC93. Forms a coiled-coil heterodimer with CCDC22; this heterodimer interacts with the guanine nucleotide exchange factor DENND10; the interaction is direct. Interacts with WASHC1. Interacts directly with WASHC2C. Interacts with SNX17 and SNX31.
Subcellular location. Early endosome.
Similarity. Belongs to the CCDC93 family.
RefSeq proteins (1): NP_061917* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019159 | CCDC93_CC | Domain |
| IPR039116 | CCDC93 | Family |
| IPR048747 | CCDC93_N | Domain |
Pfam: PF09762, PF21673
UniProt features (36 total): helix 11, region of interest 5, sequence variant 5, modified residue 3, strand 3, mutagenesis site 2, sequence conflict 2, compositionally biased region 2, chain 1, turn 1, coiled-coil region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8P0W | ELECTRON MICROSCOPY | 2.9 |
| 8F2U | ELECTRON MICROSCOPY | 3.53 |
| 8P0V | ELECTRON MICROSCOPY | 6.5 |
| 8P0X | ELECTRON MICROSCOPY | 7.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q567U6-F1 | 78.49 | 0.32 |
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 (3): 301, 305, 298
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 406 | impairs interaction with dennd10. |
| 410 | impairs interaction with dennd10. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 154 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, ACTACCT_MIR196A_MIR196B, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_ARTERY_DEVELOPMENT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, PATIL_LIVER_CANCER, GOBP_AORTA_DEVELOPMENT, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, ONKEN_UVEAL_MELANOMA_UP, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT
GO Biological Process (3): Golgi to plasma membrane transport (GO:0006893), protein transport (GO:0015031), endocytic recycling (GO:0032456)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): early endosome (GO:0005769), endosome (GO:0005768)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| vesicle-mediated transport to the plasma membrane | 2 |
| post-Golgi vesicle-mediated transport | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| endosomal transport | 1 |
| binding | 1 |
| endosome | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
734 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC93 | CCDC22 | O60826 | 998 |
| CCDC93 | VPS35L | Q7Z3J2 | 981 |
| CCDC93 | COMMD1 | Q8N668 | 918 |
| CCDC93 | VPS26C | O14972 | 913 |
| CCDC93 | COMMD9 | Q9P000 | 834 |
| CCDC93 | SNX17 | Q15036 | 757 |
| CCDC93 | WASHC2A | Q641Q2 | 752 |
| CCDC93 | WASHC2C | Q9Y4E1 | 723 |
| CCDC93 | COMMD6 | Q7Z4G1 | 708 |
| CCDC93 | COMMD10 | Q9Y6G5 | 668 |
| CCDC93 | WASHC1 | A8K0Z3 | 658 |
| CCDC93 | VPS29 | Q9UBQ0 | 636 |
| CCDC93 | WASHC3 | Q9Y3C0 | 621 |
| CCDC93 | WASHC5 | Q12768 | 611 |
| CCDC93 | COMMD5 | Q9GZQ3 | 566 |
IntAct
177 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COMMD1 | CCDC22 | psi-mi:“MI:0914”(association) | 0.970 |
| CCDC22 | CCDC93 | psi-mi:“MI:0914”(association) | 0.960 |
| CCDC93 | CCDC22 | psi-mi:“MI:0914”(association) | 0.960 |
| CCDC93 | CCDC22 | psi-mi:“MI:0915”(physical association) | 0.960 |
| CCDC93 | CCDC22 | psi-mi:“MI:0407”(direct interaction) | 0.960 |
| CCDC22 | CCDC93 | psi-mi:“MI:0403”(colocalization) | 0.960 |
| CCDC22 | CCDC93 | psi-mi:“MI:0915”(physical association) | 0.960 |
| COMMD2 | CCDC22 | psi-mi:“MI:0914”(association) | 0.930 |
| COMMD5 | CCDC22 | psi-mi:“MI:0914”(association) | 0.930 |
| VPS35L | CCDC22 | psi-mi:“MI:0914”(association) | 0.900 |
| COMMD1 | CCDC93 | psi-mi:“MI:0403”(colocalization) | 0.900 |
| COMMD1 | CCDC93 | psi-mi:“MI:0915”(physical association) | 0.900 |
BioGRID (179): CCDC93 (Two-hybrid), KRT40 (Two-hybrid), NOTCH2NL (Two-hybrid), CCDC93 (Affinity Capture-Western), CCDC22 (Affinity Capture-Western), C16orf62 (Affinity Capture-Western), CCDC93 (Affinity Capture-Western), COMMD1 (Affinity Capture-Western), COMMD6 (Affinity Capture-Western), CCDC93 (Affinity Capture-Western), CCDC93 (Affinity Capture-MS), CCDC93 (Affinity Capture-MS), CCDC93 (Affinity Capture-MS), CCDC93 (Affinity Capture-MS), CCDC22 (Co-fractionation)
ESM2 similar proteins: A7RNG8, B0WTU5, F1RKB1, O14777, O35594, O60826, P58501, P83829, P86182, Q16VW9, Q17QH9, Q28G12, Q3T0L1, Q3TDD9, Q4QQS3, Q4R630, Q4R6I5, Q4R8Y5, Q4V909, Q502W7, Q567U6, Q5BJT7, Q5XIR8, Q5ZKI4, Q640U7, Q68CZ6, Q6DCY9, Q6GQI5, Q6IR70, Q6PA15, Q6ZMI0, Q753N1, Q76I89, Q7PZ96, Q7TQK5, Q8CDN8, Q8I145, Q8I1C8, Q8I1H7, Q8LDS5
Diamond homologs: Q54CV3, Q567U6, Q5BJT7, Q5ZKI4, Q640U7, Q6GQI5, Q7TQK5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 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 |
|---|---|---|---|
| Regulation of PTEN gene transcription | 5 | 13.7× | 5e-03 |
| Neddylation | 11 | 8.0× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| Golgi to plasma membrane transport | 5 | 33.0× | 8e-05 |
| endocytic recycling | 10 | 31.5× | 3e-10 |
| retrograde transport, endosome to Golgi | 6 | 14.5× | 4e-04 |
| protein transport | 12 | 6.2× | 8e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4340 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:117935513:AATT:A | donor_gain | 1.0000 |
| 2:117936700:A:AC | donor_gain | 1.0000 |
| 2:117936701:C:CC | donor_gain | 1.0000 |
| 2:117936735:CTAAT:C | acceptor_gain | 1.0000 |
| 2:117939112:C:CC | acceptor_gain | 1.0000 |
| 2:117941187:A:AC | donor_gain | 1.0000 |
| 2:117941188:C:CC | donor_gain | 1.0000 |
| 2:117941188:CT:C | donor_gain | 1.0000 |
| 2:117944085:TCCTA:T | acceptor_loss | 1.0000 |
| 2:117944087:C:CA | acceptor_loss | 1.0000 |
| 2:117944087:C:CC | acceptor_gain | 1.0000 |
| 2:117944088:T:A | acceptor_loss | 1.0000 |
| 2:117945527:A:AC | donor_gain | 1.0000 |
| 2:117945528:C:CC | donor_gain | 1.0000 |
| 2:117945528:CGT:C | donor_gain | 1.0000 |
| 2:117946902:T:C | acceptor_gain | 1.0000 |
| 2:117946904:T:C | acceptor_gain | 1.0000 |
| 2:117946904:T:TC | acceptor_gain | 1.0000 |
| 2:117948098:CACT:C | donor_loss | 1.0000 |
| 2:117948099:ACTT:A | donor_loss | 1.0000 |
| 2:117948100:CT:C | donor_loss | 1.0000 |
| 2:117948101:TT:T | donor_loss | 1.0000 |
| 2:117948102:T:TG | donor_loss | 1.0000 |
| 2:117948103:A:AC | donor_gain | 1.0000 |
| 2:117948103:AC:A | donor_loss | 1.0000 |
| 2:117948104:C:CT | donor_gain | 1.0000 |
| 2:117948104:CT:C | donor_gain | 1.0000 |
| 2:117948104:CTCGA:C | donor_gain | 1.0000 |
| 2:117948182:GGATA:G | acceptor_gain | 1.0000 |
| 2:117948183:GATA:G | acceptor_gain | 1.0000 |
AlphaMissense
4162 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:117996358:A:G | L123P | 1.000 |
| 2:117996362:A:G | W122R | 1.000 |
| 2:117996362:A:T | W122R | 1.000 |
| 2:118006798:A:G | W59R | 1.000 |
| 2:118006798:A:T | W59R | 1.000 |
| 2:118006806:C:T | G56E | 1.000 |
| 2:118006807:C:G | G56R | 1.000 |
| 2:118006807:C:T | G56R | 1.000 |
| 2:118006809:C:T | G55E | 1.000 |
| 2:118008588:C:T | G38E | 1.000 |
| 2:118008589:C:A | G38W | 1.000 |
| 2:117941230:A:G | L494P | 0.999 |
| 2:117996347:C:G | A127P | 0.999 |
| 2:117996360:C:A | W122C | 0.999 |
| 2:117996360:C:G | W122C | 0.999 |
| 2:118000828:A:T | V119D | 0.999 |
| 2:118000837:A:T | I116K | 0.999 |
| 2:118000855:C:T | G110E | 0.999 |
| 2:118000856:C:A | G110W | 0.999 |
| 2:118000856:C:G | G110R | 0.999 |
| 2:118000856:C:T | G110R | 0.999 |
| 2:118000861:A:C | I108S | 0.999 |
| 2:118000861:A:T | I108N | 0.999 |
| 2:118000864:T:G | Q107P | 0.999 |
| 2:118000868:G:C | H106D | 0.999 |
| 2:118000889:A:G | C99R | 0.999 |
| 2:118000927:A:G | L86P | 0.999 |
| 2:118006722:A:T | I84K | 0.999 |
| 2:118006731:C:T | G81D | 0.999 |
| 2:118006751:A:C | F74L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000022072 (2:118012946 T>A), RS1000031782 (2:117978321 T>C), RS1000042314 (2:117992155 C>T), RS1000072122 (2:117927642 T>A,C), RS1000101817 (2:117970579 G>A), RS1000118731 (2:118013090 A>G), RS1000199773 (2:117995732 G>A), RS1000214571 (2:117920921 T>C), RS1000220382 (2:117959527 A>G), RS1000245487 (2:117945687 C>T), RS1000257723 (2:117988903 G>C), RS1000275221 (2:117952536 A>G), RS1000297596 (2:117976123 A>G), RS1000319968 (2:117915352 C>T), RS1000342311 (2:117965539 T>G)
Disease associations
OMIM: gene MIM:620553 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001168_2 | Recombination measurement | 3.000000e-08 |
| GCST006613_17 | Triglycerides | 1.000000e-08 |
| GCST008077_17 | LDL cholesterol levels | 1.000000e-09 |
| GCST008077_66 | LDL cholesterol levels | 2.000000e-09 |
| GCST008078_113 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 2.000000e-12 |
| GCST008078_20 | LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) | 4.000000e-12 |
| GCST008079_149 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 5.000000e-16 |
| GCST008079_16 | LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | 6.000000e-15 |
| GCST008086_43 | LDL cholesterol levels in current drinkers | 1.000000e-09 |
| GCST008086_62 | LDL cholesterol levels in current drinkers | 5.000000e-10 |
| GCST009936_22 | Venous thromboembolism | 4.000000e-06 |
| GCST011347_17 | Low density lipoprotein cholesterol levels | 1.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005919 | recombination measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004329 | alcohol drinking |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression, affects cotreatment | 2 |
| FR900359 | decreases phosphorylation | 1 |
| 2,4,6-tribromophenol | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | decreases reaction, affects binding | 1 |
| isobutyl alcohol | decreases expression, increases abundance, affects cotreatment | 1 |
| tamibarotene | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Theophylline | affects cotreatment, decreases 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.