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KCTD12 potassium channel tetramerization domain containing 12 [ Homo sapiens (human) ]

Gene ID: 115207, updated on 22-Sep-2022

Summary

Official Symbol
KCTD12provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 12provided by HGNC
Primary source
HGNC:HGNC:14678
See related
Ensembl:ENSG00000178695 MIM:610521; AllianceGenome:HGNC:14678
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFET1; PFETIN; C13orf2
Summary
Enables identical protein binding activity. Predicted to be involved in protein homooligomerization. Predicted to act upstream of or within regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

See KCTD12 in Genome Data Viewer
Location:
13q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (76880175..76886405, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (76103834..76110076, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (77454310..77460540, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370265 Neighboring gene uncharacterized LOC107984587 Neighboring gene uncharacterized LOC105370269 Neighboring gene basic transcription factor 3 pseudogene 11 Neighboring gene aconitate decarboxylase 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33073, KIAA1778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in presynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
BTB/POZ domain-containing protein KCTD12
Names
potassium channel tetramerisation domain containing 12
predominantly fetal expressed T1 domain
testicular tissue protein Li 100

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_138444.4NP_612453.1  BTB/POZ domain-containing protein KCTD12

    See identical proteins and their annotated locations for NP_612453.1

    Status: VALIDATED

    Source sequence(s)
    AC000403, AF359381, BU742274, DB153209
    Consensus CDS
    CCDS9455.1
    UniProtKB/Swiss-Prot
    Q96CX2
    UniProtKB/TrEMBL
    A0A140VJM4
    Related
    ENSP00000366694.2, ENST00000377474.4
    Conserved Domains (1) summary
    cl02518
    Location:36125
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    76880175..76886405 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    76103834..76110076 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)