Gene Gene information from NCBI Gene database.
Entrez ID 386617
Gene name Potassium channel tetramerization domain containing 8
Gene symbol KCTD8
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4p13
miRNA miRNA information provided by mirtarbase database.
24
miRTarBase ID miRNA Experiments Reference
MIRT2021085 hsa-miR-1298 CLIP-seq
MIRT2021086 hsa-miR-3065-5p CLIP-seq
MIRT2021087 hsa-miR-3074-3p CLIP-seq
MIRT2021088 hsa-miR-3124-3p CLIP-seq
MIRT2021089 hsa-miR-3662 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 36931259
GO:0005886 Component Plasma membrane IEA
GO:0008277 Process Regulation of G protein-coupled receptor signaling pathway IBA
GO:0008277 Process Regulation of G protein-coupled receptor signaling pathway IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618442 22394 ENSG00000183783
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZWB6
Protein name BTB/POZ domain-containing protein KCTD8
Protein function Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitizatio
PDB 6G57
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 46 146 BTB/POZ domain Domain
Sequence
MALKDTGSGGSTILPISEMVSSSSSPGASAAAAPGPCAPSPFPEVVELNVGGQVYVTKHS
TLLSVPDSTLASMFSPSSPRGGARRRGELPRDSRARFFIDRDGFLFRYVLDYLRDKQLAL
PEHFPEKERLLREAEYFQLTDLVKLL
SPKVTKQNSLNDEGCQSDLEDNVSQGSSDALLLR
GAAAAVPSGPGAHGGGGGGGAQDKRSGFLTLGYRGSYTTVRDNQADAKFRRVARIMVCGR
IALAKEVFGDTLNESRDPDRQPEKYTSRFYLKFTYLEQAFDRLSEAGFHMVACNSSGTAA
FVNQYRDDKIWSSYTEYIFFRPPQKIVSPKQEHEDRKHDKVTDKGSESGTSCNELSTSSC
DSHSEASTPQDNPSSAQQATAHQPNTLTLDRPSKKAPVQWIPPPDKRRNSELFQTLISKS
RETNLSKKKVCEKLSVEEEMKKCIQDFKKIHIPDYFPERKRQWQSELLQKYGL
Sequence length 473
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EXOSTOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations