KCTD2 potassium channel tetramerization domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCTD2provided by HGNC
Official Full Name: potassium channel tetramerization domain containing 2provided by HGNC
Primary source: HGNC:HGNC:21294
See related: Ensembl:ENSG00000180901 MIM:613422; AllianceGenome:HGNC:21294
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 cullin family protein binding activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 22.9), brain (RPKM 16.4) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17q25.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (75032571..75065886)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (75924318..75957335)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (73028666..73061981)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

By merging results of a meta-GWAS, results in the CHARGE consortium data sets and an in vivo genotyping comprising 4501 individuals, detected a novel locus ATP5H/KCTD2 associated with Alzheimer's disease risk
Title: ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Whole genome association scan for genetic polymorphisms influencing information processing speed. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-31760 (e-PCR)
- UniSTS:77370

A002O02 (e-PCR)
- UniSTS:15949

RH78471 (e-PCR)
- UniSTS:72696

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cullin family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: BTB/POZ domain-containing protein KCTD2

Names: potassium channel tetramerisation domain containing 2; potassium channel tetramerization domain-containing protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_015353.3 → NP_056168.1 BTB/POZ domain-containing protein KCTD2

See identical proteins and their annotated locations for NP_056168.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.

Source sequence(s)

BC033329, CD742648, D79998, DB460074

Consensus CDS

CCDS32728.1

UniProtKB/Swiss-Prot

Q14681

Related

ENSP00000312814.6, ENST00000322444.7

Conserved Domains (1) summary

cd18389
Location:72 → 177

BTB_POZ_KCTD2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 2 (KCTD2)

RNA

NR_110834.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the in-frame ORF does not meet RefSeq quality criteria.

Source sequence(s)

AC087651, BC033329, CD742648

Related

ENST00000375286.7
NR_110835.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon and contains three alternate 5' exons, compared to variant 1. This variant is represented as non-coding because the in-frame ORF does not meet RefSeq quality criteria.

Source sequence(s)

AK307083, BC033329, CD742648, DA408645