PJVK pejvakin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PJVKprovided by HGNC
Official Full Name: pejvakinprovided by HGNC
Primary source: HGNC:HGNC:29502
See related: Ensembl:ENSG00000204311 MIM:610219; AllianceGenome:HGNC:29502
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: DFNB59
Summary: The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Expression: Broad expression in testis (RPKM 5.2), ovary (RPKM 1.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (178451378..178462102)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (178934171..178944894)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (179316105..179326829)

Chromosome 2 - NC_000002.12 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?

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Title: Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
two mutations, one in MYO6 (c.554-1 G > A) gene and another in PJVK (c.547C > T) are responsible for 1% each of the Iranian ARNSHL patients
Title: Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
We identified in Moroccan deaf patients two mutations in PJVK and one mutation in MYO15A described for the first time in association with non-syndromic recessive hearing loss
Title: Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.
Study describes a genetic form of noise-induced hearing loss , by showing that pejvakin deficiency in mice and DFNB59 patients leads to hypervulnerability to sound, due to a peroxisomal deficiency.
Title: Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
p.C312W fsX19 mutation causative of autosomal recessive, non-syndromic, prelingual sensorineural hearing impairment
Title: Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
Title: Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene hearing loss in an isolated Arab population
Title: High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Missense mutation in PJVK causes progressive hearing loss.
Title: A p.C343S missense mutation in PJVK causes progressive hearing loss.
OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
Title: Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
failed to detect the presence either of mutations T54I and R183W in the exon 2 and exon 4 or any other deafness-associated mutations in the whole DFNB59 gene in this family
Title: [Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy].

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Autosomal recessive nonsyndromic hearing loss 59 MedGen: C1857744 OMIM: 610220 GeneReviews: Genetic Hearing Loss Overview	Compare labs

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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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in detection of mechanical stimulus involved in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in pexophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in programmed cell death in response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of peroxisome organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to reactive oxygen species	ISS Inferred from Sequence or Structural Similarity more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
involved_in stereocilium maintenance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in stereocilium base	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: pejvakin

Names: autosomal recessive deafness type 59 protein

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_012186.1 RefSeqGene

Range

4943..15667

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042702.5 → NP_001036167.1 pejvakin isoform 1

See identical proteins and their annotated locations for NP_001036167.1

Status: REVIEWED

Source sequence(s)

AC009948, BC127902, DQ365827

Consensus CDS

CCDS42787.1

UniProtKB/Swiss-Prot

A0PK14, B9EJE2, Q0ZLH3

UniProtKB/TrEMBL

A0A2R8Y564

Related

ENSP00000495855.2, ENST00000644580.2

Conserved Domains (1) summary

pfam04598
Location:1 → 237

Gasdermin; Gasdermin family
NM_001353775.2 → NP_001340704.1 pejvakin isoform 2

Status: REVIEWED

Source sequence(s)

AC009948

UniProtKB/TrEMBL

A0A2R8Y564

Conserved Domains (1) summary

pfam04598
Location:2 → 240

Gasdermin; Gasdermin family
NM_001353776.2 → NP_001340705.1 pejvakin isoform 3 precursor

Status: REVIEWED

Source sequence(s)

AC009948

UniProtKB/TrEMBL

A0A2R8Y564

Conserved Domains (1) summary

pfam04598
Location:41 → 258

Gasdermin; Gasdermin family
NM_001353777.1 → NP_001340706.1 pejvakin isoform 4

Status: REVIEWED

Source sequence(s)

AC009948

Consensus CDS

CCDS86897.1

UniProtKB/TrEMBL

A0PK15

Related

ENSP00000495731.1, ENST00000645817.1

Conserved Domains (1) summary

pfam04598
Location:1 → 77

Gasdermin; Gasdermin family
NM_001353778.2 → NP_001340707.1 pejvakin isoform 4

Status: REVIEWED

Source sequence(s)

AC009948

Consensus CDS

CCDS86897.1

UniProtKB/TrEMBL

A0PK15

Conserved Domains (1) summary

pfam04598
Location:1 → 77

Gasdermin; Gasdermin family
NM_001369912.1 → NP_001356841.1 pejvakin isoform 1

Status: REVIEWED

Source sequence(s)

AC009948

Consensus CDS

CCDS42787.1

UniProtKB/Swiss-Prot

A0PK14, B9EJE2, Q0ZLH3

UniProtKB/TrEMBL

A0A2R8Y564

Related

ENSP00000364271.4, ENST00000375129.8

Conserved Domains (1) summary

pfam04598
Location:1 → 237

Gasdermin; Gasdermin family