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Aliases for DFNB59 Gene

Aliases for DFNB59 Gene

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

External Ids for DFNB59 Gene

Previous GeneCards Identifiers for DFNB59 Gene

  • GC00U921558
  • GC02U900985
  • GC02P179028
  • GC02P179316
  • GC02P171186

Summaries for DFNB59 Gene

Entrez Gene Summary for DFNB59 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 DFNB59 Gene

DFNB59 (Deafness, Autosomal Recessive 59) is a Protein Coding gene. Diseases associated with DFNB59 include Deafness, Autosomal Recessive 59 and Dfnb59 Nonsyndromic Hearing Loss And Deafness. An important paralog of this gene is DFNA5.

UniProtKB/Swiss-Prot for DFNB59 Gene

  • Essential in the activity of auditory pathway neurons.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DFNB59 Gene

Genomics for DFNB59 Gene

Regulatory Elements for DFNB59 Gene

Enhancers for DFNB59 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DFNB59 on UCSC Golden Path with GeneCards custom track

Promoters for DFNB59 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DFNB59 on UCSC Golden Path with GeneCards custom track

Genomic Location for DFNB59 Gene

Chromosome:
2
Start:
178,450,592 bp from pter
End:
178,461,390 bp from pter
Size:
10,799 bases
Orientation:
Plus strand

Genomic View for DFNB59 Gene

Genes around DFNB59 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DFNB59 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DFNB59 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DFNB59 Gene

Proteins for DFNB59 Gene

  • Protein details for DFNB59 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for DFNB59 Gene

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

neXtProt entry for DFNB59 Gene

Proteomics data for DFNB59 Gene at MOPED

Post-translational modifications for DFNB59 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DFNB59 Gene

No data available for DME Specific Peptides for DFNB59 Gene

Domains & Families for DFNB59 Gene

Protein Domains for DFNB59 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DFNB59 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 DFNB59: view

No data available for Gene Families for DFNB59 Gene

Function for DFNB59 Gene

Molecular function for DFNB59 Gene

UniProtKB/Swiss-Prot Function:
Essential in the activity of auditory pathway neurons.

Phenotypes for DFNB59 Gene

genes like me logo Genes that share phenotypes with DFNB59: view

Human Phenotype Ontology for DFNB59 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DFNB59 Gene

Localization for DFNB59 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DFNB59 Gene COMPARTMENTS Subcellular localization image for DFNB59 gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 2
peroxisome 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for DFNB59 Gene

Pathways & Interactions for DFNB59 Gene

SuperPathways for DFNB59 Gene

No Data Available

Interacting Proteins for DFNB59 Gene

Gene Ontology (GO) - Biological Process for DFNB59 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DFNB59 Gene

Drugs & Compounds for DFNB59 Gene

No Compound Related Data Available

Transcripts for DFNB59 Gene

mRNA/cDNA for DFNB59 Gene

(9) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DFNB59 Gene

Deafness, autosomal recessive 59:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DFNB59 Gene

No ASD Table

Relevant External Links for DFNB59 Gene

GeneLoc Exon Structure for
DFNB59
ECgene alternative splicing isoforms for
DFNB59

Expression for DFNB59 Gene

mRNA expression in normal human tissues for DFNB59 Gene

mRNA differential expression in normal tissues according to GTEx for DFNB59 Gene

This gene is overexpressed in Testis (x7.4).

Protein differential expression in normal tissues from HIPED for DFNB59 Gene

This gene is overexpressed in Platelet (43.9) and Gallbladder (25.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DFNB59 Gene



SOURCE GeneReport for Unigene cluster for DFNB59 Gene Hs.87734

genes like me logo Genes that share expression patterns with DFNB59: view

Protein tissue co-expression partners for DFNB59 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for DFNB59 Gene

Orthologs for DFNB59 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DFNB59 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DFNB59 35
  • 94.7 (n)
  • 98.3 (a)
DFNB59 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DFNB59 35
  • 93.47 (n)
  • 97.73 (a)
DFNB59 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dfnb59 35
  • 87.69 (n)
  • 96.02 (a)
Dfnb59 16
Dfnb59 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DFNB59 35
  • 99.72 (n)
  • 99.43 (a)
DFNB59 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dfnb59 35
  • 86.65 (n)
  • 93.07 (a)
oppossum
(Monodelphis domestica)
Mammalia DFNB59 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DFNB59 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves DFNB59 35
  • 73.48 (n)
  • 74.72 (a)
DFNB59 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DFNB59 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dfnb59 35
  • 71.6 (n)
  • 75.21 (a)
zebrafish
(Danio rerio)
Actinopterygii dfnb59 35
  • 65.04 (n)
  • 66.38 (a)
dfnb59 36
  • 62 (a)
OneToOne
Species with no ortholog for DFNB59:
  • 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 DFNB59 Gene

ENSEMBL:
Gene Tree for DFNB59 (if available)
TreeFam:
Gene Tree for DFNB59 (if available)

Paralogs for DFNB59 Gene

Paralogs for DFNB59 Gene

genes like me logo Genes that share paralogs with DFNB59: view

Variants for DFNB59 Gene

Sequence variations from dbSNP and Humsavar for DFNB59 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_027387 Deafness, autosomal recessive, 59 (DFNB59)
VAR_027388 Deafness, autosomal recessive, 59 (DFNB59)
rs17304212 - 178,461,008(+) TTTCT(C/G/T)GTTCA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs569088856 Deafness, autosomal recessive, 59 (DFNB59) 178,461,243(+) TCCTT(C/G)TTTTG downstream-variant-500B, reference, missense, utr-variant-3-prime
rs6753709 -- 178,454,664(+) ACATT(A/G)GTAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DFNB59 Gene

Variant ID Type Subtype PubMed ID
nsv834467 CNV Loss 17160897

Variation tolerance for DFNB59 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 DFNB59 Gene

Human Gene Mutation Database (HGMD)
DFNB59

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DFNB59 Gene

Disorders for DFNB59 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DFNB59 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 59
  • deafness, autosomal recessive, 59
dfnb59 nonsyndromic hearing loss and deafness
  • dfnb 59 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive
  • autosomal recessive deafness
auditory neuropathy
  • auditory dys-synchrony
- elite association - COSMIC cancer census association via MalaCards

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 DFNB59

Genetic Association Database (GAD)
DFNB59
Human Genome Epidemiology (HuGE) Navigator
DFNB59
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DFNB59
genes like me logo Genes that share disorders with DFNB59: view

No data available for Genatlas for DFNB59 Gene

Publications for DFNB59 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. (Nat. Genet. 2006) 2 3 4 67
  2. Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. (PMID: 25631766) Zhang Q.J. … Wang Q.J. (Acta Otolaryngol. 2015) 3
  3. Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. (PMID: 26166082) Wu C.C. … Wu C.M. (Medicine (Baltimore) 2015) 3
  4. Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes. (PMID: 26544938) Delmaghani S. … Petit C. (Cell 2015) 3
  5. High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. (PMID: 21696384) Borck G. … Basel-Vanagaite L. (Clin. Genet. 2012) 3

Products for DFNB59 Gene

Sources for DFNB59 Gene

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