Gene Gene information from NCBI Gene database.
Entrez ID 23510
Gene name Potassium channel tetramerization domain containing 2
Gene symbol KCTD2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q25.1
miRNA miRNA information provided by mirtarbase database.
662
miRTarBase ID miRNA Experiments Reference
MIRT047312 hsa-miR-181a-5p CLASH 23622248
MIRT045532 hsa-miR-149-5p CLASH 23622248
MIRT042759 hsa-miR-339-5p CLASH 23622248
MIRT038107 hsa-miR-423-5p CLASH 23622248
MIRT499691 hsa-miR-224-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0031463 Component Cul3-RING ubiquitin ligase complex IBA
GO:0043161 Process Proteasome-mediated ubiquitin-dependent protein catabolic process IBA
GO:0044877 Function Protein-containing complex binding IDA 23209302
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613422 21294 ENSG00000180901
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14681
Protein name BTB/POZ domain-containing protein KCTD2 (Potassium channel tetramerization domain-containing protein 2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 74 167 BTB/POZ domain Domain
Sequence
MAELQLDPAMAGLGGGGGSGVGDGGGPVRGPPSPRPAGPTPRGHGRPAAAVAQPLEPGPG
PPERAGGGGAARWVRLNVGGTYFVTTRQTLGREPKSFLCRLCCQEDPELDSDKDETGAYL
IDRDPTYFGPILNYLRHGKLIITKELAEEGVLEEAEFYNIASLVRLV
KERIRDNENRTSQ
GPVKHVYRVLQCQEEELTQMVSTMSDGWKFEQLISIGSSYNYGNEDQAEFLCVVSRELNN
STNGIVIEPSEKAKILQERGSRM
Sequence length 263
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 31545826 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22011044 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 28060381
★☆☆☆☆
Found in Text Mining only
Neoplasms, Intracranial Intracranial Neoplasm BEFREE 28060381
★☆☆☆☆
Found in Text Mining only