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

Gene ID: 386617, updated on 27-Nov-2024

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 MIM:618442; AllianceGenome:HGNC:22394
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
Summary
Predicted to enable G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection and postsynaptic membrane. Predicted to be part of receptor complex. Predicted to be active in postsynapse and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 3.7), thyroid (RPKM 1.4) and 7 other tissues See more
Orthologs
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Genomic context

See KCTD8 in Genome Data Viewer
Location:
4p13
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (44173903..44448809, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (44140713..44416533, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44175920..44450826, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900849 Neighboring gene uncharacterized LOC105374438 Neighboring gene long intergenic non-protein coding RNA 2475 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:44058850-44059376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:44183470-44184174 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:44184175-44184879 Neighboring gene uncharacterized LOC107986275 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665473-44665974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:44665975-44666474 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:44679656-44680544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15397 Neighboring gene Yip1 domain family member 7 Neighboring gene GTP binding elongation factor GUF1

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 Apr 4 07:08:55 2018

Bibliography

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
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
 
involved_in regulation of G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
part_of receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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

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_198353.3NP_938167.1  BTB/POZ domain-containing protein KCTD8

    See identical proteins and their annotated locations for NP_938167.1

    Status: VALIDATED

    Source sequence(s)
    AC131951, AK123347, DB561746
    Consensus CDS
    CCDS3467.1
    UniProtKB/Swiss-Prot
    A2RU39, Q6ZWB6
    Related
    ENSP00000353129.3, ENST00000360029.4
    Conserved Domains (2) summary
    cd18396
    Location:42150
    BTB_POZ_KCTD8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein KCTD8
    cd22218
    Location:202321
    H1_KCTD8; H1 domain found in potassium channel tetramerization domain-containing protein 8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    44173903..44448809 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513690.4XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    44140713..44416533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349967.1XP_054205942.1  BTB/POZ domain-containing protein KCTD8 isoform X1