Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115207
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium channel tetramerization domain containing 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCTD12
Synonyms (NCBI Gene) Gene synonyms aliases
C13orf2, PFET1, PFETIN
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q22.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019041 hsa-miR-335-5p Microarray 18185580
MIRT021600 hsa-miR-142-3p Microarray 17612493
MIRT024442 hsa-miR-215-5p Microarray 19074876
MIRT026816 hsa-miR-192-5p Microarray 19074876
MIRT032456 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 32296183
GO:0042734 Component Presynaptic membrane IBA 21873635
GO:0042802 Function Identical protein binding IPI 27152988
GO:0042995 Component Cell projection IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610521 14678 ENSG00000178695
Protein
UniProt ID Q96CX2
Protein name BTB/POZ domain-containing protein KCTD12 (Pfetin) (Predominantly fetal expressed T1 domain)
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 6M8S , 6QZL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 36 129 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Present in a variety of fetal organs, with highest expression levels in the cochlea and brain and, in stark contrast, is detected only at extremely low levels in adult organs, such as brain and lung. {ECO:0000269|PubMed:15357420}.
Sequence
MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLL
WRMFTQQQPQELARDSKGRFFLDRDGFLFRYILDYLRDLQLVLPDYFPERSRLQREAEYF
ELPELVRRL
GAPQQPGPGPPPSRRGVHKEGSLGDELLPLGYSEPEQQEGASAGAPSPTLE
LASRSPSGGAAGPLLTPSQSLDGSRRSGYITIGYRGSYTIGRDAQADAKFRRVARITVCG
KTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQAFDKLSESGFHMVACSSTGTC
AFASSTDQSEDKIWTSYTEYVFCRE
Sequence length 325
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
25689571
Unknown
Disease term Disease name Evidence References Source
Cerebral amyloid angiopathy Cerebral amyloid angiopathy GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 37626178
Adenocarcinoma of Lung Associate 37626178
Bipolar Disorder Associate 31311980
Breast Neoplasms Inhibit 32207860
Breast Neoplasms Associate 36647876, 37626178
Carcinoma Squamous Cell Associate 37626178
Esophageal Squamous Cell Carcinoma Inhibit 30157793
Gastrointestinal Stromal Tumors Associate 18535868, 24977158, 30157793
Multiple Myeloma Associate 36534449
Neoplasms Associate 32207860, 37626178