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    PJVK pejvakin [ Homo sapiens (human) ]

    Gene ID: 494513, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178451378..178462102)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178934171..178944894)
    RS_2024_09 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

    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. Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Hashemzadeh Chaleshtori M, et al. Clin Genet, 2007 Sep. PMID 17718865
    3. [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
    4. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Collin RW, et al. Hum Mutat, 2007 Jul. PMID 17373699
    5. Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Ebermann I, et al. Hum Mutat, 2007 Jun. PMID 17301963

    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
    		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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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