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Aliases for PJVK Gene

Aliases for PJVK Gene

  • Pejvakin 2 3 3
  • DFNB59 3 4 5
  • Autosomal Recessive Deafness Type 59 Protein 3 4
  • Deafness, Autosomal Recessive 59 2 5

External Ids for PJVK Gene

Previous HGNC Symbols for PJVK Gene

  • DFNB59

Summaries for PJVK Gene

Entrez Gene Summary for PJVK Gene

  • 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]

GeneCards Summary for PJVK Gene

PJVK (Pejvakin) is a Protein Coding gene. Diseases associated with PJVK include Deafness, Autosomal Recessive 59 and Nonsyndromic Hearing Loss And Deafness. An important paralog of this gene is GSDME.

UniProtKB/Swiss-Prot for PJVK Gene

  • Essential in the activity of auditory pathway neurons.

Additional gene information for PJVK Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PJVK Gene

Genomics for PJVK Gene

Regulatory Elements for PJVK Gene

Enhancers for PJVK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H178412 1.2 ENCODE 11.4 -36.3 -36349 2.7 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FKBP7 PLEKHA3 PJVK PRKRA LOC101927027
GH02H178477 1.1 ENCODE 11.7 +29.1 29117 4 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 LOC101927027 FKBP7 RBM45 PRKRA PJVK NUDCP2
GH02H178428 1 ENCODE 11.7 -22.1 -22066 1 FOXA2 ATF1 ARID4B DMAP1 GATA2 MIER2 ZNF592 KAT8 NFIL3 MIER3 FKBP7 PRKRA PJVK LOC101927027
GH02H178484 0.9 Ensembl 11.7 +34.1 34115 0.6 NFIB INSM2 FEZF1 ZNF366 ZSCAN5C ZNF350 ZNF391 ZNF174 TSHZ1 ZEB2 RBM45 LOC101927027 FKBP7 PRKRA PJVK NUDCP2 ENSG00000271401 PLEKHA3 TTN-AS1
GH02H178448 1.4 Ensembl ENCODE 0.7 +0.2 231 3.7 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B FKBP7 LOC101927027 PLEKHA3 RBM45 ENSG00000270574 ENSG00000237477 PJVK PRKRA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PJVK on UCSC Golden Path with GeneCards custom track

Promoters for PJVK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126971 508 2201 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B

Genomic Locations for PJVK Gene

Genomic Locations for PJVK Gene
chr2:178,450,592-178,461,390
(GRCh38/hg38)
Size:
10,799 bases
Orientation:
Plus strand
chr2:179,316,163-179,326,117
(GRCh37/hg19)

Genomic View for PJVK Gene

Genes around PJVK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PJVK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PJVK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PJVK Gene

Proteins for PJVK Gene

  • Protein details for PJVK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0ZLH3-PJVK_HUMAN
    Recommended name:
    Pejvakin
    Protein Accession:
    Q0ZLH3
    Secondary Accessions:
    • A0PK14
    • B9EJE2

    Protein attributes for PJVK Gene

    Size:
    352 amino acids
    Molecular mass:
    39913 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Pejvakin means echo in Persian.

neXtProt entry for PJVK Gene

Post-translational modifications for PJVK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PJVK Gene

Domains & Families for PJVK Gene

Gene Families for PJVK Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PJVK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PJVK Gene

Graphical View of Domain Structure for InterPro Entry

Q0ZLH3

UniProtKB/Swiss-Prot:

PJVK_HUMAN :
  • Belongs to the gasdermin family.
Family:
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with PJVK: view

Function for PJVK Gene

Molecular function for PJVK Gene

UniProtKB/Swiss-Prot Function:
Essential in the activity of auditory pathway neurons.
genes like me logo Genes that share phenotypes with PJVK: view

Human Phenotype Ontology for PJVK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PJVK Gene

Localization for PJVK Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PJVK gene
Compartment Confidence
mitochondrion 3
nucleus 2
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PJVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with PJVK: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PJVK Gene

Pathways & Interactions for PJVK Gene

No Data Available

Interacting Proteins for PJVK Gene

Selected Interacting proteins: Q0ZLH3-PJVK_HUMAN for PJVK Gene via IID

Symbol External ID(s) Details
GSDMC

Gene Ontology (GO) - Biological Process for PJVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with PJVK: view

No data available for Pathways by source and SIGNOR curated interactions for PJVK Gene

Drugs & Compounds for PJVK Gene

No Compound Related Data Available

Transcripts for PJVK Gene

mRNA/cDNA for PJVK Gene

(17) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PJVK Gene

No ASD Table

Relevant External Links for PJVK Gene

GeneLoc Exon Structure for
PJVK
ECgene alternative splicing isoforms for
PJVK

Expression for PJVK Gene

NURSA nuclear receptor signaling pathways regulating expression of PJVK Gene:

PJVK

Phenotype-based relationships between genes and organs from Gene ORGANizer for PJVK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for PJVK Gene

Orthologs for PJVK Gene

This gene was present in the common ancestor of chordates.

Orthologs for PJVK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DFNB59 34 33
  • 99.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DFNB59 33 34
  • 94.7 (n)
dog
(Canis familiaris)
Mammalia DFNB59 34 33
  • 93.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DFNB59 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dfnb59 34 33
  • 87.69 (n)
OneToOne
Pjvk 16
rat
(Rattus norvegicus)
Mammalia Dfnb59 33
  • 86.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DFNB59 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves DFNB59 34 33
  • 73.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DFNB59 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dfnb59 33
  • 71.6 (n)
zebrafish
(Danio rerio)
Actinopterygii dfnb59 34 33
  • 65.04 (n)
OneToOne
Species where no ortholog for PJVK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PJVK Gene

ENSEMBL:
Gene Tree for PJVK (if available)
TreeFam:
Gene Tree for PJVK (if available)

Paralogs for PJVK Gene

Paralogs for PJVK Gene

genes like me logo Genes that share paralogs with PJVK: view

Variants for PJVK Gene

Sequence variations from dbSNP and Humsavar for PJVK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs111706634 Pathogenic, Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] 178,456,149(+) CAATG(A/C/T)GGGTA nc-transcript-variant, reference, synonymous-codon, missense
rs118203988 Pathogenic, Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] 178,453,570(+) TTCAA(C/T)ACCTT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs569088856 Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] 178,461,243(+) TCCTT(C/G)TTTTG downstream-variant-500B, reference, missense, utr-variant-3-prime
rs118203989 Pathogenic 178,456,101(+) CCACA(C/G/T)GACAG nc-transcript-variant, reference, stop-gained
rs112215702 Likely benign 178,451,211(+) CCGTA(A/G)CTCCG intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PJVK Gene

Variant ID Type Subtype PubMed ID
nsv834467 CNV loss 17160897
nsv961535 CNV duplication 23825009

Variation tolerance for PJVK Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PJVK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PJVK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PJVK Gene

Disorders for PJVK Gene

MalaCards: The human disease database

(13) MalaCards diseases for PJVK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 59
  • autosomal recessive nonsyndromic deafness 59
nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
nonsyndromic deafness
  • nonsyndromic hearing loss
dfnb59 nonsyndromic hearing loss and deafness
  • dfnb 59 nonsyndromic hearing loss and deafness
- elite association - COSMIC cancer census association via MalaCards
Search PJVK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PJVK_HUMAN
  • Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]: A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. {ECO:0000269 PubMed:16804542, ECO:0000269 PubMed:22617256}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PJVK

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PJVK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PJVK
genes like me logo Genes that share disorders with PJVK: view

No data available for Genatlas for PJVK Gene

Publications for PJVK Gene

  1. Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. (PMID: 16804542) Delmaghani S … Petit C (Nature genetics 2006) 2 3 4 60
  2. A p.C343S missense mutation in PJVK causes progressive hearing loss. (PMID: 22617256) Mujtaba G … Naz S (Gene 2012) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner. (PMID: 28209736) Kazmierczak M … Schwander M (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 60
  5. Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes. (PMID: 26544938) Delmaghani S … Petit C (Cell 2015) 3 60

Products for PJVK Gene

Sources for PJVK Gene

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