CCDC86
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Also known as MGC2574cyclonCgr1
Summary
CCDC86 (coiled-coil domain containing 86, HGNC:28359) is a protein-coding gene on chromosome 11q12.2, encoding Coiled-coil domain-containing protein 86 (Q9H6F5). Required for proper chromosome segregation during mitosis and error-free mitotic progression. It is a selective cancer dependency (DepMap: 89.5% of cell lines).
Enables RNA binding activity. Located in chromosome; nucleolus; and nucleoplasm.
Source: NCBI Gene 79080 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 73 total
- Cancer dependency (DepMap): dependent in 89.5% of screened cell lines
- MANE Select transcript:
NM_024098
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28359 |
| Approved symbol | CCDC86 |
| Name | coiled-coil domain containing 86 |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC2574, cyclon, Cgr1 |
| Ensembl gene | ENSG00000110104 |
| Ensembl biotype | protein_coding |
| OMIM | 611293 |
| Entrez | 79080 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000227520, ENST00000535217, ENST00000545580, ENST00000649393
RefSeq mRNA: 1 — MANE Select: NM_024098
NM_024098
CCDS: CCDS7993
Canonical transcript exons
ENST00000227520 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000851430 | 60842113 | 60842882 |
| ENSE00000851431 | 60850206 | 60851081 |
| ENSE00003550038 | 60849940 | 60850014 |
| ENSE00003550301 | 60847924 | 60848053 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 92.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.2654 / max 326.2249, expressed in 1808 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114503 | 20.8619 | 1786 |
| 114502 | 10.8812 | 1751 |
| 114501 | 3.5279 | 1583 |
| 114500 | 0.4020 | 242 |
| 114508 | 0.2432 | 109 |
| 114504 | 0.2109 | 69 |
| 114505 | 0.0969 | 33 |
| 114507 | 0.0214 | 8 |
| 114506 | 0.0200 | 6 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 92.25 | gold quality |
| right testis | UBERON:0004534 | 91.81 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.89 | gold quality |
| testis | UBERON:0000473 | 90.68 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.62 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 88.43 | silver quality |
| muscle of leg | UBERON:0001383 | 88.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.23 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.21 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.99 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.74 | gold quality |
| right adrenal gland | UBERON:0001233 | 87.69 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.62 | gold quality |
| pituitary gland | UBERON:0000007 | 87.01 | gold quality |
| adrenal gland | UBERON:0002369 | 86.98 | gold quality |
| muscle organ | UBERON:0001630 | 86.22 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 86.21 | gold quality |
| gluteal muscle | UBERON:0002000 | 86.16 | silver quality |
| triceps brachii | UBERON:0001509 | 86.15 | gold quality |
| omental fat pad | UBERON:0010414 | 86.06 | gold quality |
| peritoneum | UBERON:0002358 | 86.04 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.01 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.98 | gold quality |
| sperm | CL:0000019 | 85.97 | silver quality |
| islet of Langerhans | UBERON:0000006 | 85.91 | gold quality |
| skin of leg | UBERON:0001511 | 85.79 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.46 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 85.37 | gold quality |
| male germ cell | CL:0000015 | 85.36 | silver quality |
| gingival epithelium | UBERON:0001949 | 85.31 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 144.49 |
| E-ANND-3 | no | 2.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting CCDC86, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-6126 | 99.62 | 68.09 | 996 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-5703 | 99.10 | 67.09 | 2053 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-16-1-3P | 98.70 | 69.23 | 1538 |
| HSA-MIR-4463 | 98.56 | 66.05 | 1071 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-505-5P | 97.01 | 65.54 | 778 |
| HSA-MIR-550B-2-5P | 96.56 | 64.61 | 646 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 89.5% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- cyclon gene encodes a phosphorylated nuclear protein consisting of repetitive sequences in the amino-terminus and a coiled-coil domain in the carboxyl-terminus (PMID:17300783)
- Cyclon/CCDC68 levels correlate with the clinical presentation of relapsed schizophrenia (PMID:23439384)
- CCDC86 is a novel Ki-67-interacting protein important for cell division. (PMID:36695333)
- CCDC86 promotes the aggressive behavior of nasopharyngeal carcinoma by positively regulating EGFR and activating the PI3K/Akt signaling. (PMID:38247332)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ccdc86 | ENSDARG00000059908 |
| mus_musculus | Ccdc86 | ENSMUSG00000024732 |
| rattus_norvegicus | Ccdc86 | ENSRNOG00000020925 |
| drosophila_melanogaster | CG14210 | FBGN0031040 |
| caenorhabditis_elegans | Y40B1B.7 | WBGENE00012739 |
Protein
Protein identifiers
Coiled-coil domain-containing protein 86 — Q9H6F5 (reviewed: Q9H6F5)
Alternative names: Cytokine-induced protein with coiled-coil domain
All UniProt accessions (2): Q9H6F5, H0YG79
UniProt curated annotations — full annotation on UniProt →
Function. Required for proper chromosome segregation during mitosis and error-free mitotic progression.
Subunit / interactions. (Microbial infection) Interacts with hepatitis C virus (HCV) protein NS5A.
Subcellular location. Nucleus. Chromosome. Nucleolus.
Post-translational modifications. Citrullinated by PADI4.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6F5-1 | 1 | yes |
| Q9H6F5-2 | 2 |
RefSeq proteins (1): NP_077003* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026570 | CCDC86 | Family |
UniProt features (32 total): modified residue 19, compositionally biased region 6, region of interest 2, chain 1, splice variant 1, coiled-coil region 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FL4 | ELECTRON MICROSCOPY | 2.89 |
| 8FL0 | ELECTRON MICROSCOPY | 2.91 |
| 8INK | ELECTRON MICROSCOPY | 3.2 |
| 8IPD | ELECTRON MICROSCOPY | 3.2 |
| 8IPY | ELECTRON MICROSCOPY | 3.2 |
| 8IR1 | ELECTRON MICROSCOPY | 3.3 |
| 8IR3 | ELECTRON MICROSCOPY | 3.5 |
| 8IPX | ELECTRON MICROSCOPY | 4.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6F5-F1 | 62.88 | 0.16 |
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 (19): 18, 21, 24, 47, 50, 58, 65, 66, 69, 80, 91, 102, 110, 113, 128, 188, 217, 218, 342
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 1–63 | loss of localization to chromosomes during mitosis. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_DN, ELVIDGE_HYPOXIA_DN, HORIUCHI_WTAP_TARGETS_DN, ZHAN_MULTIPLE_MYELOMA_MF_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, BROWNE_HCMV_INFECTION_12HR_UP, GTGCCTT_MIR506, GOBP_ORGANELLE_FISSION, GOBP_MITOTIC_NUCLEAR_DIVISION, GOBP_MITOTIC_CELL_CYCLE, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, SANSOM_APC_TARGETS_UP, WANG_TARGETS_OF_MLL_CBP_FUSION_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR
GO Biological Process (2): chromosome segregation (GO:0007059), mitotic nuclear division (GO:0140014)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| cell cycle process | 1 |
| mitotic cell cycle | 1 |
| nuclear division | 1 |
| mitotic cell cycle process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1030 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CCDC86 | IL3 | P08700 | 545 |
| CCDC86 | ETFA | P13804 | 471 |
| CCDC86 | UFSP2 | Q9NUQ7 | 467 |
| CCDC86 | TM2D1 | Q9BX74 | 458 |
| CCDC86 | NUP210 | Q8TEM1 | 437 |
| CCDC86 | MS4A10 | Q96PG2 | 432 |
| CCDC86 | PTGES2 | Q9H7Z7 | 412 |
| CCDC86 | CFAP184 | Q2M329 | 408 |
| CCDC86 | APTX | Q7Z2E3 | 397 |
| CCDC86 | SPMIP4 | Q8N865 | 394 |
| CCDC86 | CDK2AP2 | O75956 | 385 |
| CCDC86 | TMEM217 | Q8N7C4 | 385 |
| CCDC86 | TMEM217B | A0A494BZU4 | 383 |
| CCDC86 | APOF | Q13790 | 383 |
| CCDC86 | CCDC116 | Q8IYX3 | 377 |
IntAct
133 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LARP7 | CCNT1 | psi-mi:“MI:0914”(association) | 0.850 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| H2AC4 | PPM1G | psi-mi:“MI:0914”(association) | 0.670 |
| rep | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.660 |
| NSA2 | TYW5 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| H2BC26 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| H2AC20 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| DAXX | TNRC18 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC86 | psi-mi:“MI:0915”(physical association) | 0.510 | |
| CCDC86 | psi-mi:“MI:0915”(physical association) | 0.510 | |
| ORF20 | CCDC86 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MRTO4 | CCDC86 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCDC102B | CCDC86 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Gspt1 | MRPL27 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 | |
| NLRP3 | PHRF1 | psi-mi:“MI:0914”(association) | 0.350 |
| NPM1 | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| FOXQ1 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| KSR1 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (189): CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Co-fractionation), CCDC86 (Affinity Capture-MS), CCDC86 (Proximity Label-MS), CCDC86 (Biochemical Activity), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS), CCDC86 (Affinity Capture-MS)
ESM2 similar proteins: A2TJV2, A5D7J3, A5D7L8, A6NDB9, A6QPT6, A7E321, B1ASB6, F1MGG3, O08784, O15446, P0C671, P48382, P48681, Q14676, Q14684, Q149B8, Q1ED39, Q3UY34, Q4R729, Q5I034, Q5SV97, Q5TM66, Q5TM68, Q5U2M8, Q5XFX8, Q5XIB5, Q68A65, Q68FX5, Q6NYC8, Q767L8, Q767M0, Q76KJ5, Q7YR40, Q7Z6P3, Q80VR2, Q86VY4, Q86Y26, Q8BQ30, Q8CB87, Q8IY92
Diamond homologs: Q2TBX7, Q5RB69, Q5XIB5, Q9H6F5, Q9JJ89
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 142 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 6 | 21.5× | 5e-06 |
| Cap-dependent Translation Initiation | 6 | 21.5× | 5e-06 |
| SARS-CoV-1 modulates host translation machinery | 6 | 21.5× | 5e-06 |
| Eukaryotic Translation Elongation | 6 | 19.4× | 8e-06 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 6 | 19.0× | 9e-06 |
| Peptide chain elongation | 12 | 17.7× | 2e-10 |
| Viral mRNA Translation | 12 | 17.7× | 2e-10 |
| Formation of the ternary complex, and subsequently, the 43S complex | 7 | 17.5× | 3e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal large subunit biogenesis | 6 | 21.1× | 5e-05 |
| cytoplasmic translation | 13 | 19.1× | 1e-10 |
| ribosomal small subunit biogenesis | 10 | 18.1× | 3e-08 |
| rRNA processing | 13 | 14.6× | 2e-09 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 13.6× | 8e-05 |
| RNA processing | 7 | 12.2× | 1e-04 |
| translation | 14 | 11.4× | 5e-09 |
| RNA splicing | 8 | 5.6× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
300 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:60847922:A:AG | acceptor_gain | 1.0000 |
| 11:60847923:G:GC | acceptor_gain | 1.0000 |
| 11:60847923:GATTC:G | acceptor_gain | 1.0000 |
| 11:60848051:CAGG:C | donor_loss | 1.0000 |
| 11:60848052:AGGTG:A | donor_loss | 1.0000 |
| 11:60848054:G:A | donor_loss | 1.0000 |
| 11:60848054:G:GG | donor_gain | 1.0000 |
| 11:60848055:T:A | donor_loss | 1.0000 |
| 11:60849929:A:AG | acceptor_gain | 1.0000 |
| 11:60849929:ACAT:A | acceptor_gain | 1.0000 |
| 11:60849930:C:G | acceptor_gain | 1.0000 |
| 11:60849931:A:AG | acceptor_gain | 1.0000 |
| 11:60849931:AT:A | acceptor_gain | 1.0000 |
| 11:60849932:T:G | acceptor_gain | 1.0000 |
| 11:60849932:T:TA | acceptor_gain | 1.0000 |
| 11:60849938:A:AG | acceptor_gain | 1.0000 |
| 11:60849938:A:G | acceptor_loss | 1.0000 |
| 11:60849938:AG:A | acceptor_gain | 1.0000 |
| 11:60849939:G:GA | acceptor_gain | 1.0000 |
| 11:60849939:GG:G | acceptor_gain | 1.0000 |
| 11:60849939:GGA:G | acceptor_gain | 1.0000 |
| 11:60849939:GGAGA:G | acceptor_gain | 1.0000 |
| 11:60850010:AAGTG:A | donor_gain | 1.0000 |
| 11:60850012:GTG:G | donor_gain | 1.0000 |
| 11:60850013:TG:T | donor_gain | 1.0000 |
| 11:60850014:GG:G | donor_gain | 1.0000 |
| 11:60850015:G:GG | donor_gain | 1.0000 |
| 11:60850016:T:A | donor_loss | 1.0000 |
| 11:60850195:A:AG | acceptor_gain | 1.0000 |
| 11:60850196:C:G | acceptor_gain | 1.0000 |
AlphaMissense
2272 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:60842862:G:C | W246C | 0.994 |
| 11:60842862:G:T | W246C | 0.994 |
| 11:60842865:G:C | K247N | 0.994 |
| 11:60842865:G:T | K247N | 0.994 |
| 11:60842860:T:A | W246R | 0.993 |
| 11:60842860:T:C | W246R | 0.993 |
| 11:60847925:T:C | F254L | 0.993 |
| 11:60847927:C:A | F254L | 0.993 |
| 11:60847927:C:G | F254L | 0.993 |
| 11:60849974:G:C | R308P | 0.992 |
| 11:60849992:G:C | R314P | 0.991 |
| 11:60850229:G:C | K329N | 0.991 |
| 11:60850229:G:T | K329N | 0.991 |
| 11:60849953:G:C | R301P | 0.990 |
| 11:60847966:G:C | W267C | 0.989 |
| 11:60847966:G:T | W267C | 0.989 |
| 11:60850007:T:A | V319D | 0.988 |
| 11:60847964:T:A | W267R | 0.986 |
| 11:60847964:T:C | W267R | 0.986 |
| 11:60850207:T:C | I322T | 0.986 |
| 11:60849977:G:C | R309P | 0.985 |
| 11:60849997:G:C | A316P | 0.985 |
| 11:60849956:G:C | R302P | 0.984 |
| 11:60850207:T:A | I322N | 0.984 |
| 11:60842847:A:C | K241N | 0.983 |
| 11:60842847:A:T | K241N | 0.983 |
| 11:60842855:G:C | R244P | 0.983 |
| 11:60842852:G:A | G243E | 0.981 |
| 11:60850207:T:G | I322S | 0.980 |
| 11:60847975:G:C | K270N | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000406199 (11:60851281 T>C), RS1000583688 (11:60845786 C>A,G), RS1001491769 (11:60847788 C>T), RS1001640324 (11:60841970 C>G,T), RS1001745720 (11:60850388 C>G,T), RS1001978781 (11:60843115 C>T), RS1002406908 (11:60845529 C>G,T), RS1002467307 (11:60849730 A>C,G), RS1002511117 (11:60846750 T>A), RS1002654369 (11:60840580 G>A,C), RS1002750228 (11:60849318 G>A,T), RS1003473633 (11:60848134 C>G), RS1003999984 (11:60849394 A>G), RS1004360604 (11:60849269 A>G), RS1004377097 (11:60848873 T>G)
Disease associations
OMIM: gene MIM:611293 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002160_3 | Wegener’s granulomatosis | 2.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
61 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| (+)-JQ1 compound | decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases expression | 3 |
| Estradiol | increases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| beauvericin | decreases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| deoxynivalenol | increases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| chloropicrin | decreases expression | 1 |
| AM 251 | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| LDN 193189 | 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 | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7LV | Ubigene A-549 CCDC86 KO | Cancer cell line | Male |
| CVCL_E0ZI | Ubigene NCI-H1299 CCDC86 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): granulomatosis with polyangiitis