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KCTD12 (potassium channel tetramerization domain containing 12)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
115207
Gene nameGene Name - the full gene name approved by the HGNC.
Potassium channel tetramerization domain containing 12
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
KCTD12
SynonymsGene synonyms aliases
C13orf2, PFET1, PFETIN
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q22.3
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLL
WRMFTQQQPQELARDSKGRFFLDRDGFLFRYILDYLRDLQLVLPDYFPERSRLQREAEYF
ELPELVRRL
GAPQQPGPGPPPSRRGVHKEGSLGDELLPLGYSEPEQQEGASAGAPSPTLE
LASRSPSGGAAGPLLTPSQSLDGSRRSGYITIGYRGSYTIGRDAQADAKFRRVARITVCG
KTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQAFDKLSESGFHMVACSSTGTC
AFASSTDQSEDKIWTSYTEYVFCRE
Sequence length 325
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 25689571
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 25689571
Mood disorder Mood Disorders 25689571

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