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KCTD8 potassium channel tetramerization domain containing 8 [ Homo sapiens (human) ]

Gene ID: 386617, updated on 18-Sep-2018

Summary

Official Symbol
KCTD8provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 8provided by HGNC
Primary source
HGNC:HGNC:22394
See related
Ensembl:ENSG00000183783 Vega:OTTHUMG00000099409
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
Expression
Biased expression in brain (RPKM 3.7), thyroid (RPKM 1.4) and 7 other tissues See more
Orthologs

Genomic context

See KCTD8 in Genome Data Viewer
Location:
4p13
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (44173903..44449792, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44175920..44450824, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374438 Neighboring gene long intergenic non-protein coding RNA 2475 Neighboring gene uncharacterized LOC107986275 Neighboring gene Yip1 domain family member 7 Neighboring gene GUF1 homolog, GTPase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of the Protein C anticoagulant pathway.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
receptor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
BTB/POZ domain-containing protein KCTD8
Names
potassium channel tetramerisation domain containing 8

NCBI Reference Sequences (RefSeq)

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_198353.2NP_938167.1  BTB/POZ domain-containing protein KCTD8

    See identical proteins and their annotated locations for NP_938167.1

    Status: VALIDATED

    Source sequence(s)
    AK123347, DB561746
    Consensus CDS
    CCDS3467.1
    UniProtKB/Swiss-Prot
    Q6ZWB6
    Related
    ENSP00000353129.3, OTTHUMP00000125257, ENST00000360029.3, OTTHUMT00000216868
    Conserved Domains (1) summary
    cl02518
    Location:46142
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    44173903..44449792 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513690.3XP_011511992.1  BTB/POZ domain-containing protein KCTD8 isoform X1

    Conserved Domains (2) summary
    smart00225
    Location:46145
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cl02518
    Location:46142
    BTB; BTB/POZ domain
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