KCTD4 potassium channel tetramerization domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCTD4provided by HGNC
Official Full Name: potassium channel tetramerization domain containing 4provided by HGNC
Primary source: HGNC:HGNC:23227
See related: Ensembl:ENSG00000180332 MIM:620638; AllianceGenome:HGNC:23227
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: bA321C24.3
Summary: Predicted to be involved in protein homooligomerization. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 6.1), skin (RPKM 1.4) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.12-q14.13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (45192853..45201045, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (44412904..44421096, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (45766988..45775180, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

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

A004S30 (e-PCR)
- UniSTS:17245

D13S1542 (e-PCR)
- UniSTS:473471

D13S1557 (e-PCR)
- UniSTS:473486

WI-13796 (e-PCR)
- UniSTS:63666

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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

General protein information

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Preferred Names: BTB/POZ domain-containing protein KCTD4

Names: potassium channel tetramerisation domain containing 4

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_198404.3 → NP_940686.2 BTB/POZ domain-containing protein KCTD4

See identical proteins and their annotated locations for NP_940686.2

Status: VALIDATED

Source sequence(s)

AL138963, BC018063, BQ575935, DA683655, DB557284

Consensus CDS

CCDS9396.1

UniProtKB/Swiss-Prot

Q5W0P9, Q8WVF5

Related

ENSP00000368402.1, ENST00000379108.2

Conserved Domains (1) summary

cd18364
Location:34 → 119

BTB_POZ_KCTD4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 4 (KCTD4)