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

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, Dec 2024]
Expression: Biased expression in brain (RPKM 3.7), thyroid (RPKM 1.4) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetic silencing of KCTD8 promotes hepatocellular carcinoma growth by activating PI3K/AKT signaling.
Title: Epigenetic silencing of KCTD8 promotes hepatocellular carcinoma growth by activating PI3K/AKT signaling.
Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis.
Title: Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis.
KCTD8 might modulate adverse effects of smoking during pregnancy on brain development via apoptosis triggered by low intracellular levels of potassium, possibly reducing the number of progenitor cells
Title: KCTD8 gene and brain growth in adverse intrauterine environment: a genome-wide association study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-105209 (e-PCR)
- UniSTS:169216

SHGC-111979 (e-PCR)
- UniSTS:183831

WI-21522 (e-PCR)
- UniSTS:26160

D7S2647 (e-PCR)
- UniSTS:65842

RH120530 (e-PCR)
- UniSTS:133695

D4S1627 (e-PCR), detects polymorphism
- UniSTS:13139

D4S2295 (e-PCR), detects polymorphism
- UniSTS:7775

MARC_21837-21838:1025100922:1 (e-PCR)
- UniSTS:268645

SHGC-112243 (e-PCR)
- UniSTS:168552

SHGC-111916 (e-PCR)
- UniSTS:168824

D4S1639 (e-PCR)
- UniSTS:148607

D4S1547 (e-PCR), detects polymorphism
- UniSTS:42185

SHGC-18275 (e-PCR)
- UniSTS:41163

SHGC-9448 (e-PCR)
- UniSTS:30412

SHGC-59732 (e-PCR)
- UniSTS:11483

SHGC-50887 (e-PCR)
- UniSTS:70620

D4S1547 (e-PCR), detects polymorphism
- UniSTS:57330

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

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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)

NM_198353.3 → NP_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:42 → 150

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:202 → 321

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

44173903..44448809 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513690.4 → XP_011511992.1 BTB/POZ domain-containing protein KCTD8 isoform X1

Conserved Domains (2) summary

smart00225
Location:46 → 145

BTB; Broad-Complex, Tramtrack and Bric a brac

cl02518
Location:46 → 142

BTB; BTB/POZ domain