KCTD19 potassium channel tetramerization domain containing 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCTD19provided by HGNC
Official Full Name: potassium channel tetramerization domain containing 19provided by HGNC
Primary source: HGNC:HGNC:24753
See related: Ensembl:ENSG00000168676 MIM:619943; AllianceGenome:HGNC:24753
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 be involved in male meiotic nuclear division. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Restricted expression toward testis (RPKM 29.8) See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (67289432..67326741, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (73083729..73121039, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (67323335..67360644, complement)

Chromosome 16 - NC_000016.10 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?

Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.
Title: Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.
Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.
Title: Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef-mediated downregulation of HLA (MHCI) may be affected by/inhibited by KCTD19 as demonstrated by siRNA genome-wide screen [in HeLa cells)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

RH65202 (e-PCR)
- UniSTS:88198

D16S325 (e-PCR)
- UniSTS:147089

G09450 (e-PCR)
- UniSTS:76697

RH92943 (e-PCR)
- UniSTS:92132

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 cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: BTB/POZ domain-containing protein KCTD19

Names: potassium channel tetramerisation domain containing 19; potassium channel tetramerization domain-containing protein 19; testicular tissue protein Li 101

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.