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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
  • Pejvakin 3

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 CIViC summary , 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 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
GH02G178412 1.2 ENCODE 11.4 -36.3 -36349 2.7 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC FKBP7 PLEKHA3 PRKRA DFNB59 LOC101927027
GH02G178428 1 ENCODE 11.7 -22.1 -22066 1.0 FOXA2 ATF1 ARID4B DMAP1 GATA2 MIER2 ZNF592 KAT8 CREB3 MIER3 FKBP7 PRKRA DFNB59 LOC101927027
GH02G178484 0.9 Ensembl 11.7 +34.1 34115 0.6 NFIB INSM2 FEZF1 ZNF366 ZSCAN5C ZNF350 ZNF391 ZNF263 ZNF174 TSHZ1 LOC101927027 FKBP7 PRKRA DFNB59 ENSG00000271401 PLEKHA3 TTN-AS1
GH02G178448 1.4 Ensembl ENCODE 0.7 +0.2 231 3.7 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FKBP7 PLEKHA3 ENSG00000270574 ENSG00000237477 LOC101927027 DFNB59 PRKRA
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Genomic Location for DFNB59 Gene

178,450,592 bp from pter
178,461,390 bp from pter
10,799 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A0PK14
    • B9EJE2

    Protein attributes for DFNB59 Gene

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

neXtProt entry for DFNB59 Gene

Post-translational modifications for DFNB59 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DFNB59 Gene

Domains & Families for DFNB59 Gene

Gene Families for DFNB59 Gene

Protein Domains for DFNB59 Gene


Suggested Antigen Peptide Sequences for DFNB59 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the gasdermin family.
  • Belongs to the gasdermin family.
genes like me logo Genes that share domains with DFNB59: view

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

CRISPR Products

Inhibitory RNA 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

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 DFNB59 gene
Compartment Confidence
mitochondrion 3
nucleus 2
cytosol 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DFNB59 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with DFNB59: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DFNB59 Gene

Pathways & Interactions for DFNB59 Gene

SuperPathways for DFNB59 Gene

No Data Available

Interacting Proteins for DFNB59 Gene

Selected Interacting proteins: Q0ZLH3-PJVK_HUMAN for DFNB59 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for DFNB59 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 DFNB59: view

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

(13) 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:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for DFNB59 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DFNB59 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for DFNB59 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DFNB59 Gene:


SOURCE GeneReport for Unigene cluster for DFNB59 Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for DFNB59 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DFNB59: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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
(Pan troglodytes)
Mammalia DFNB59 34 35
  • 99.72 (n)
(Bos Taurus)
Mammalia DFNB59 34 35
  • 94.7 (n)
(Canis familiaris)
Mammalia DFNB59 34 35
  • 93.47 (n)
(Monodelphis domestica)
Mammalia DFNB59 35
  • 90 (a)
(Mus musculus)
Mammalia Dfnb59 34 16 35
  • 87.69 (n)
(Rattus norvegicus)
Mammalia Dfnb59 34
  • 86.65 (n)
(Ornithorhynchus anatinus)
Mammalia DFNB59 35
  • 74 (a)
(Gallus gallus)
Aves DFNB59 34 35
  • 73.48 (n)
(Anolis carolinensis)
Reptilia DFNB59 35
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dfnb59 34
  • 71.6 (n)
(Danio rerio)
Actinopterygii dfnb59 34 35
  • 65.04 (n)
Species where no ortholog for DFNB59 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 DFNB59 Gene

Gene Tree for DFNB59 (if available)
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
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 DFNB59 Gene

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

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

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

Disorders for DFNB59 Gene

MalaCards: The human disease database

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

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


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. A p.C343S missense mutation in PJVK causes progressive hearing loss. (PMID: 22617256) Mujtaba G. … Naz S. (Gene 2012) 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. (PMID: 20739942) Mahdieh N. … Zeinali S. (J. Hum. Genet. 2010) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for DFNB59 Gene

Sources for DFNB59 Gene

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