KCTD5
gene geneOn this page
Also known as FLJ20040
Summary
KCTD5 (potassium channel tetramerization domain containing 5, HGNC:21423) is a protein-coding gene on chromosome 16p13.3, encoding BTB/POZ domain-containing protein KCTD5 (Q9NXV2). Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex.
Enables identical protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol.
Source: NCBI Gene 54442 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 41 total — 1 pathogenic
- MANE Select transcript:
NM_018992
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21423 |
| Approved symbol | KCTD5 |
| Name | potassium channel tetramerization domain containing 5 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20040 |
| Ensembl gene | ENSG00000167977 |
| Ensembl biotype | protein_coding |
| OMIM | 611285 |
| Entrez | 54442 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000301738, ENST00000564195, ENST00000564246, ENST00000569689, ENST00000570005, ENST00000855086, ENST00000956038
RefSeq mRNA: 1 — MANE Select: NM_018992
NM_018992
CCDS: CCDS10475
Canonical transcript exons
ENST00000301738 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001118879 | 2707298 | 2709030 |
| ENSE00001118883 | 2682523 | 2682800 |
| ENSE00003482289 | 2702353 | 2702478 |
| ENSE00003521016 | 2695935 | 2696043 |
| ENSE00003587810 | 2697906 | 2697997 |
| ENSE00003608322 | 2699821 | 2699916 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 99.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.4220 / max 445.3931, expressed in 1820 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 152263 | 33.4220 | 1820 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.04 | gold quality |
| oocyte | CL:0000023 | 97.89 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.90 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.62 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.02 | gold quality |
| colonic mucosa | UBERON:0000317 | 89.48 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.35 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 88.56 | gold quality |
| granulocyte | CL:0000094 | 88.45 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 88.38 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.21 | gold quality |
| ventricular zone | UBERON:0003053 | 88.00 | gold quality |
| transverse colon | UBERON:0001157 | 87.84 | gold quality |
| leukocyte | CL:0000738 | 87.51 | gold quality |
| monocyte | CL:0000576 | 87.48 | gold quality |
| mononuclear cell | CL:0000842 | 87.42 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 87.27 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 87.14 | silver quality |
| stromal cell of endometrium | CL:0002255 | 87.08 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 86.66 | gold quality |
| gingival epithelium | UBERON:0001949 | 86.14 | gold quality |
| esophagus | UBERON:0001043 | 86.11 | gold quality |
| gingiva | UBERON:0001828 | 85.80 | gold quality |
| colon | UBERON:0001155 | 85.73 | gold quality |
| large intestine | UBERON:0000059 | 85.64 | gold quality |
| skin of leg | UBERON:0001511 | 85.54 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 85.53 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 85.18 | gold quality |
| intestine | UBERON:0000160 | 85.16 | gold quality |
| cortical plate | UBERON:0005343 | 85.16 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 15.31 |
| E-MTAB-9067 | yes | 12.21 |
| E-ANND-3 | yes | 3.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting KCTD5, 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-3163 | 100.00 | 77.23 | 8605 |
| 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-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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-5682 | 99.89 | 72.56 | 1005 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
Literature-anchored findings (GeneRIF, showing 10)
- we have identified a novel cellular AAV-2 Rep78/Rep68 interaction partner, KCTD5, located predominantly in the cytoplasm. (PMID:17239418)
- Analysis of the interaction with cullin3 showed that, in addition to the BTB domain, some amino acids in the N-terminus of KCTD5 are required for binding to cullin3. Findings suggest that KCTD5 is a substrate-specific adaptor for cullin3-based E3 ligases (PMID:18573101)
- structure reveals assemblies of five subunits while tetramers were anticipated; pentameric stoichiometry is observed also in solution by scanning transmission electron microscopy mass analysis and analytical ultracentrifugation (PMID:19361449)
- Identification of MCM7, ZNF711 and FAM193 as KCTD5 interaction partners.KCTD5 is not involved in polyubiquitylation of MCM7 replication factor.The KCTD5/cullin3 complex stabilizes ZNF711 transcription factor. (PMID:26188516)
- genetic modifier screen exposes suppressors of the KCTD5 phenotype and mechanistically demonstrates that KCTD5 acts as an off-switch for GPCR signalling by triggering proteolysis of Gbetagamma heterodimers dissociated from the Galpha subunit (PMID:28562590)
- Cullin3/KCTD5 downregulates the DNA-binding affinity of DeltaNp63alpha, impairing either its transactivity or its transinhibitory activity. Functionally, Cullin3/KCTD5 abates the proproliferation activity of DeltaNp63alpha. These findings suggest that KCTD5-based CRL3 may mediate monoubiquitination and is a novel regulator of DeltaNp63alpha. (PMID:29782646)
- KCTD5, a novel TRPM4-regulatory protein required for cell migration as a new predictor for breast cancer prognosis. (PMID:32301552)
- K(+) Channel Tetramerization Domain 5 (KCTD5) Protein Regulates Cell Migration, Focal Adhesion Dynamics and Spreading through Modulation of Ca(2+) Signaling and Rac1 Activity. (PMID:33053687)
- Members of the KCTD family are major regulators of cAMP signaling. (PMID:34934014)
- KCTD Proteins Have Redundant Functions in Controlling Cellular Growth. (PMID:38732215)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | KCTD5 | ENSDARG00000098817 |
| mus_musculus | Kctd5 | ENSMUSG00000016946 |
| rattus_norvegicus | Kctd5 | ENSRNOG00000057186 |
| drosophila_melanogaster | inc | FBGN0025394 |
| caenorhabditis_elegans | WBGENE00016871 |
Paralogs (3): KCTD17 (ENSG00000100379), KCTD9 (ENSG00000104756), KCTD2 (ENSG00000180901)
Protein
Protein identifiers
BTB/POZ domain-containing protein KCTD5 — Q9NXV2 (reviewed: Q9NXV2)
All UniProt accessions (2): Q9NXV2, H3BSS5
UniProt curated annotations — full annotation on UniProt →
Function. Its interaction with CUL3 suggests that it may act as a substrate adapter in some E3 ligase complex. Does not affect the function of Kv channel Kv2.1/KCNB1, Kv1.2/KCNA2, Kv4.2/KCND2 and Kv3.4/KCNC4.
Subunit / interactions. Homopentamer. Interacts (via C-terminus) with GRASP55/GORASP2. Interacts with CUL3 and with ubiquitinated proteins. Interacts with CRY1. (Microbial infection) Interacts with adeno-associated virus 2 (AAV-2) REP proteins.
Subcellular location. Cytoplasm. Cytosol. Nucleus.
Domain organisation. The BTB (POZ) domain is atypical and mediates the formation of a homopentamer instead of a homotetramer. Homopentamerization is due to the presence of 4 residues in the BTB (POZ) domain: Leu-56, Gly-100, Val-112 and Ala-118.
Induction. Up-regulated in peripheral blood lymphocytes stimulated through the T-cell receptor.
RefSeq proteins (1): NP_061865* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR003131 | T1-type_BTB | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
Pfam: PF02214
UniProt features (24 total): helix 7, strand 7, turn 2, modified residue 2, initiator methionine 1, chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3DRZ | X-RAY DIFFRACTION | 1.9 |
| 8U7Z | ELECTRON MICROSCOPY | 2.97 |
| 3DRX | X-RAY DIFFRACTION | 3.11 |
| 3DRY | X-RAY DIFFRACTION | 3.3 |
| 8U80 | ELECTRON MICROSCOPY | 3.6 |
| 8U81 | ELECTRON MICROSCOPY | 3.82 |
| 8U82 | ELECTRON MICROSCOPY | 3.84 |
| 8U84 | ELECTRON MICROSCOPY | 3.88 |
| 8U83 | ELECTRON MICROSCOPY | 3.98 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NXV2-F1 | 78.97 | 0.55 |
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): 2, 10
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 184 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, FXR_IR1_Q6, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, CTATGCA_MIR153, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GTGCCTT_MIR506, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, OCT1_06, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_PROTEIN_HOMOOLIGOMERIZATION, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, P53_DECAMER_Q2
GO Biological Process (2): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein homooligomerization (GO:0051260)
GO Molecular Function (4): identical protein binding (GO:0042802), protein-containing complex binding (GO:0044877), cullin family protein binding (GO:0097602), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), Cul3-RING ubiquitin ligase complex (GO:0031463)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| protein complex oligomerization | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
768 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCTD5 | CUL3 | Q13618 | 977 |
| KCTD5 | KCTD11 | Q693B1 | 762 |
| KCTD5 | KCTD1 | Q719H9 | 671 |
| KCTD5 | KCTD15 | Q96SI1 | 576 |
| KCTD5 | KCTD20 | Q7Z5Y7 | 572 |
| KCTD5 | BTBD10 | Q9BSF8 | 557 |
| KCTD5 | KCNC4 | Q03721 | 556 |
| KCTD5 | KCTD19 | Q17RG1 | 515 |
| KCTD5 | KCNA2 | P16389 | 479 |
| KCTD5 | KCNB1 | Q14721 | 477 |
| KCTD5 | SKP1 | P34991 | 473 |
| KCTD5 | KCND2 | Q9NZV8 | 471 |
| KCTD5 | RBX1 | P62877 | 431 |
| KCTD5 | KCTD13 | Q8WZ19 | 425 |
| KCTD5 | RND2 | P52198 | 422 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| ARRDC1 | NEDD4 | psi-mi:“MI:0914”(association) | 0.640 |
| REPIN1 | IPO8 | psi-mi:“MI:0914”(association) | 0.640 |
| GNG8 | GNB5 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| KSR2 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| KCND2 | BAG3 | psi-mi:“MI:0914”(association) | 0.530 |
| KCTD17 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| GNG2 | GNB5 | psi-mi:“MI:0914”(association) | 0.530 |
| KCTD5 | KCTD5 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| PRDX2 | PRDX3 | psi-mi:“MI:0914”(association) | 0.510 |
| NHERF2 | ACTN4 | psi-mi:“MI:0914”(association) | 0.510 |
| Rep68 | KCTD5 | psi-mi:“MI:0915”(physical association) | 0.510 |
| KCTD5 | Rep68 | psi-mi:“MI:0915”(physical association) | 0.510 |
| NXF1 | KCTD5 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Rep78 | KCTD5 | psi-mi:“MI:0915”(physical association) | 0.490 |
| KCTD5 | Rep78 | psi-mi:“MI:0915”(physical association) | 0.490 |
| Kctd5 | CKAP5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMEM45A | KCTD5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KCTD5 | lcrD | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (195): KCTD5 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), KCTD5 (Affinity Capture-MS), KCTD5 (Reconstituted Complex), KCTD5 (Affinity Capture-MS), ZNF711 (Two-hybrid), MCM7 (Two-hybrid), FAM193B (Two-hybrid), ZNF711 (Affinity Capture-Western), MCM7 (Affinity Capture-Western), FAM193B (Affinity Capture-Western), KCTD5 (Affinity Capture-Western)
ESM2 similar proteins: A3KMV1, A4IFB4, A5PKG7, A9ULR9, B1WC97, B5DEL1, O70479, O73916, P0C5J9, Q01820, Q0VD00, Q0VFV7, Q12259, Q13829, Q28DC9, Q2HJ48, Q2T9W0, Q2TUM3, Q3URF8, Q4G0X4, Q5EAX2, Q5F3E8, Q5M956, Q5RBH4, Q5XJ34, Q5ZJP7, Q6DC02, Q6DCX3, Q6DG99, Q6P3P4, Q6P7W2, Q719H9, Q7TNY1, Q7TPL3, Q7Z3E5, Q863D4, Q8BGV7, Q8BJK1, Q8BNL5, Q8K0E1
Diamond homologs: A3KMV1, A4IFB4, A5PKG7, A6H6X4, B1WC97, B5DEL1, D5SHR0, G5EFC3, O65555, P0C5J9, P15388, P17971, P17972, P25122, P48547, P59994, P59995, Q01956, Q03607, Q03719, Q0VD00, Q0VFV7, Q14003, Q14681, Q29RJ0, Q2HJ48, Q2TUM3, Q3URF8, Q4G0X4, Q50H33, Q52PG9, Q54KH0, Q5DTY9, Q5M956, Q5XJ34, Q5ZJP7, Q62897, Q63881, Q63959, Q68DU8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4279197 | GRCh37/hg19 16p13.3(chr16:2747326-2817288)x1 | Pathogenic |
SpliceAI
1731 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:2682797:CAAGG:C | donor_loss | 1.0000 |
| 16:2682798:AAGG:A | donor_loss | 1.0000 |
| 16:2682799:AGG:A | donor_loss | 1.0000 |
| 16:2682800:GGTG:G | donor_loss | 1.0000 |
| 16:2695930:TTTA:T | acceptor_loss | 1.0000 |
| 16:2695933:A:AG | acceptor_gain | 1.0000 |
| 16:2695934:G:GG | acceptor_gain | 1.0000 |
| 16:2696039:GGAAG:G | donor_gain | 1.0000 |
| 16:2696040:GAAGG:G | donor_gain | 1.0000 |
| 16:2696041:A:T | donor_gain | 1.0000 |
| 16:2696041:AAGGT:A | donor_loss | 1.0000 |
| 16:2696044:G:GA | donor_loss | 1.0000 |
| 16:2696045:T:G | donor_loss | 1.0000 |
| 16:2697905:GGA:G | acceptor_gain | 1.0000 |
| 16:2699818:CA:C | acceptor_loss | 1.0000 |
| 16:2699819:A:AG | acceptor_gain | 1.0000 |
| 16:2699819:AG:A | acceptor_gain | 1.0000 |
| 16:2699819:AGGT:A | acceptor_gain | 1.0000 |
| 16:2699820:G:GC | acceptor_gain | 1.0000 |
| 16:2699820:GG:G | acceptor_gain | 1.0000 |
| 16:2699820:GGT:G | acceptor_gain | 1.0000 |
| 16:2699820:GGTG:G | acceptor_gain | 1.0000 |
| 16:2699820:GGTGC:G | acceptor_gain | 1.0000 |
| 16:2699904:G:GT | donor_gain | 1.0000 |
| 16:2699913:GCAG:G | donor_gain | 1.0000 |
| 16:2699914:CAGG:C | donor_loss | 1.0000 |
| 16:2699915:AGGT:A | donor_loss | 1.0000 |
| 16:2699917:G:GA | donor_loss | 1.0000 |
| 16:2699918:T:A | donor_loss | 1.0000 |
| 16:2702348:TGCA:T | acceptor_loss | 1.0000 |
AlphaMissense
1509 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:2682681:T:A | W45R | 1.000 |
| 16:2682681:T:C | W45R | 1.000 |
| 16:2682683:G:C | W45C | 1.000 |
| 16:2682683:G:T | W45C | 1.000 |
| 16:2682691:T:A | L48H | 1.000 |
| 16:2682691:T:C | L48P | 1.000 |
| 16:2682695:C:A | N49K | 1.000 |
| 16:2682695:C:G | N49K | 1.000 |
| 16:2682697:T:A | V50D | 1.000 |
| 16:2682699:G:C | G51R | 1.000 |
| 16:2682699:G:T | G51C | 1.000 |
| 16:2682700:G:A | G51D | 1.000 |
| 16:2682700:G:T | G51V | 1.000 |
| 16:2682702:G:C | G52R | 1.000 |
| 16:2682703:G:A | G52D | 1.000 |
| 16:2682703:G:T | G52V | 1.000 |
| 16:2682711:T:C | F55L | 1.000 |
| 16:2682712:T:C | F55S | 1.000 |
| 16:2682713:C:A | F55L | 1.000 |
| 16:2682713:C:G | F55L | 1.000 |
| 16:2682718:C:T | T57I | 1.000 |
| 16:2682721:C:T | T58I | 1.000 |
| 16:2682733:T:A | L62Q | 1.000 |
| 16:2682733:T:C | L62P | 1.000 |
| 16:2682750:T:C | S68P | 1.000 |
| 16:2682753:T:C | F69L | 1.000 |
| 16:2682754:T:C | F69S | 1.000 |
| 16:2682755:C:A | F69L | 1.000 |
| 16:2682755:C:G | F69L | 1.000 |
| 16:2682757:T:A | L70Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000134103 (16:2704401 C>T), RS1000136576 (16:2690839 C>T), RS1000192137 (16:2696711 C>T), RS1000375491 (16:2700876 C>A,T), RS1000466453 (16:2691051 G>A), RS1000466618 (16:2705054 G>A), RS1000485787 (16:2705113 A>C), RS1000560095 (16:2704877 G>A,C), RS1000668426 (16:2688128 C>A,G,T), RS1000762790 (16:2708118 G>A), RS1000844714 (16:2687422 C>G,T), RS1000957313 (16:2687275 T>C), RS1000963644 (16:2693507 C>A,G,T), RS1000999081 (16:2708880 T>A,C), RS1001000531 (16:2709381 G>A,C)
Disease associations
OMIM: gene MIM:611285 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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 |
|---|---|---|
| cobaltous chloride | increases expression | 2 |
| Tobacco Smoke Pollution | decreases methylation, increases expression | 2 |
| Zinc | affects cotreatment, increases expression, decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | increases expression, affects cotreatment | 1 |
| licochalcone B | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9HW | Ubigene HEK293 KCTD5 KO | Transformed cell line | Female |
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.