JRK

protein-coding

Jrk helix-turn-helix protein, the group of Helix-turn-helix CENPB type domain containing|DNA transposon derived genes

Gene summary

This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

MANE transcript

NM_003724.4

Inheritance

—

ClinVar variants

U:32B:17

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr8:142,657,460-142,681,968

External References & Databases

Ensembl (ENSG00000234616)

Transcript & Mutation Effects

hg38 • Region Span ~24.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to JRK variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 26

not providedTotal: 14

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003724.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	10 clinvar	1 clinvar	13
missense			28 clinvar	6 clinvar		34
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	32	16	1	49

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_003724.4	RefSeq	NP_003715.3	1	MANE Select
ENST00000612905.2	Ensembl	ENSP00000482410.1	1	MANE Select
NM_001077527.3	RefSeq	NP_001070995.2	2	Standard
NM_001279352.2	RefSeq	NP_001266281.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of canonical Wnt signaling pathway

Molecular Function

DNA binding
mRNA binding
protein binding

Cellular Component

cellular_component
nucleus
cytoplasm
ribonucleoprotein complex

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May bind DNA. {ECO:0000250}.;

Essentials

Indispensability pred.: E
Indispensability score: 0.783