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PJVK pejvakin [ Homo sapiens (human) ]

Gene ID: 494513, updated on 5-Mar-2024

Summary

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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
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Genomic context

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See PJVK in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12148 Neighboring gene Sharpr-MPRA regulatory region 8011 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179075951-179076528 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:179076529-179077106 Neighboring gene oxysterol binding protein like 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179142162-179142662 Neighboring gene Sharpr-MPRA regulatory region 7285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179217195-179217695 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:179228225-179228383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16802 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179278150-179278725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179279303-179279877 Neighboring gene cholesterol induced regulator of metabolism RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179315058-179315632 Neighboring gene protein activator of interferon induced protein kinase EIF2AK2 Neighboring gene uncharacterized LOC124906102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12150 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene uncharacterized LOC124907911 Neighboring gene FKBP prolyl isomerase 7 Neighboring gene pleckstrin homology domain containing A3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. Domínguez-Ruiz M, et al. Genes (Basel), 2022 Jan 15. PMID 35052489, Free PMC Article
  2. Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. Zhang QJ, et al. Acta Otolaryngol, 2015 Mar. PMID 25631766
  3. A p.C343S missense mutation in PJVK causes progressive hearing loss. Mujtaba G, et al. Gene, 2012 Aug 1. PMID 22617256, Free PMC Article
  4. High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. Borck G, et al. Clin Genet, 2012 Sep. PMID 21696384
  5. [Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]. Xu S, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2008 Oct. PMID 19160860

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Missense mutation in PJVK causes progressive hearing loss.
    Title: A p.C343S missense mutation in PJVK causes progressive hearing loss.
  9. 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.
  10. 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_012186.1 RefSeqGene

    Range
    4943..15667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    178451378..178462102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004221.3 → XP_016859710.1  pejvakin isoform X1

RNA

  1. XR_922929.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    178934171..178944894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342303.1 → XP_054198278.1  pejvakin isoform X1

RNA

  1. XR_008486378.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q0ZLH3.1 GenPept UniProtKB/Swiss-Prot:Q0ZLH3

Gene LinkOut

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