KCTD7 potassium channel tetramerization domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCTD7provided by HGNC
Official Full Name: potassium channel tetramerization domain containing 7provided by HGNC
Primary source: HGNC:HGNC:21957
See related: Ensembl:ENSG00000243335 MIM:611725; AllianceGenome:HGNC:21957
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPM3; CLN14
Summary: This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 8.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (66628881..66643229)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (67848529..67862889)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (66093868..66108216)

Chromosome 7 - NC_000007.14 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: 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?

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Title: KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Title: KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis.
Title: BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis.
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Title: Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Title: KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Title: Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Biallelic KCTD7 mutations define a neurodegenerative disorder with lipofuscin and lipid droplet accumulation but without defining features of neuronal ceroid lipofuscinosis or lysosomal storage disorders
Title: KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
KCTD7 has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and that malfunction of the encoded protein may lead to progressive myoclonus epilepsy.
Title: Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
reviews the phenotype of progressive myoclonic epilepsy associated with KCTD7 mutations [review]
Title: KCTD7-related progressive myoclonus epilepsy.
This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia.
Title: Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description	Tests
Progressive myoclonic epilepsy type 3 MedGen: C2673257 OMIM: 611726 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study. EBI GWAS Catalog EBI GWAS CatalogPubMed
The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human potassium channel tetramerisation domain containing 7 (KCTD7) at amino acid residues 510-511 by the HIV-1 protease	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

RH78008 (e-PCR)
- UniSTS:30737

GDB:4585276 (e-PCR)
- UniSTS:7789

SHGC-8688 (e-PCR)
- UniSTS:55512

GDB:1318635 (e-PCR)
- UniSTS:60663

GDB:4585394 (e-PCR)
- UniSTS:19196

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 intracellular glutamate homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular potassium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in membrane hyperpolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BTB/POZ domain-containing protein KCTD7

Names: potassium channel tetramerisation domain containing 7

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.

Genomic

NG_028110.2 RefSeqGene

Range

5001..19167

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_835

mRNA and Protein(s)

NM_001167961.2 → NP_001161433.1 BTB/POZ domain-containing protein KCTD7 isoform 2

See identical proteins and their annotated locations for NP_001161433.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) is 1-aa shorter at the C-terminus, compared to isoform 1.

Source sequence(s)

AC006001, AK055201, BC042482, BU682845, BY795857, DA493191

Consensus CDS

CCDS55117.1

UniProtKB/Swiss-Prot

Q96MP8

Related

ENSP00000411624.1, ENST00000443322.1

Conserved Domains (1) summary

cl02518
Location:53 → 138

BTB; BTB/POZ domain
NM_153033.5 → NP_694578.1 BTB/POZ domain-containing protein KCTD7 isoform 1

See identical proteins and their annotated locations for NP_694578.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC006001, AK056631

Consensus CDS

CCDS5534.1

UniProtKB/Swiss-Prot

A4D2M4, Q8IVR0, Q96MP8

Related

ENSP00000492240.1, ENST00000639828.2

Conserved Domains (1) summary

cd18366
Location:48 → 139

BTB_POZ_KCTD7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 7 (KCTD7)