Gene Gene information from NCBI Gene database.
Entrez ID 79047
Gene name Potassium channel tetramerization domain containing 15
Gene symbol KCTD15
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.11
miRNA miRNA information provided by mirtarbase database.
743
miRTarBase ID miRNA Experiments Reference
MIRT020375 hsa-miR-29c-3p Sequencing 20371350
MIRT021087 hsa-miR-186-5p Sequencing 20371350
MIRT024933 hsa-miR-215-5p Microarray 19074876
MIRT026293 hsa-miR-192-5p Microarray 19074876
MIRT050356 hsa-miR-25-3p CLASH 23622248
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:0003714 Function Transcription corepressor activity IBA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053, 38113115
GO:0005634 Component Nucleus IEA
GO:0042802 Function Identical protein binding IEA
GO:0042802 Function Identical protein binding IPI 27152988
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615240 23297 ENSG00000153885
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96SI1
Protein name BTB/POZ domain-containing protein KCTD15 (Potassium channel tetramerization domain-containing protein 15)
Protein function During embryonic development, it is involved in neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain (PubMed:23382213). {ECO:0000250|UniProtKB:Q6DC02, ECO:0000269|PubMed:23382213
PDB 8PNM , 8PNR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 58 150 BTB/POZ domain Domain
Sequence
MPHRKERPSGSSLHTHGSTGTAEGGNMSRLSLTRSPVSPLAAQGIPLPAQLTKSNAPVHI
DVGGHMYTSSLATLTKYPDSRISRLFNGTEPIVLDSLKQHYFIDRDGEIFRYVLSFLRTS
KLLLPDDFKDFSLLYEEARYYQLQPMVREL
ERWQQEQEQRRRSRACDCLVVRVTPDLGER
IALSGEKALIEEVFPETGDVMCNSVNAGWNQDPTHVIRFPLNGYCRLNSVQVLERLFQRG
FSVAASCGGGVDSSQFSEYVLCREERRPQPTPTAVRIKQEPLD
Sequence length 283
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE 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
Adult Medulloblastoma Medulloblastoma BEFREE 31685809
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia Pubtator 28948079 Associate
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 28948079 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23820787
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 23820787
★☆☆☆☆
Found in Text Mining only
Bulimia Nervosa Bulimia Pubtator 28948079 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 19910641
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 19910641 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 31685809
★☆☆☆☆
Found in Text Mining only
Craniofacial Abnormalities Craniofacial abnormalities Pubtator 38296633 Associate
★☆☆☆☆
Found in Text Mining only