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Aliases for DFNB59 Gene

Aliases for DFNB59 Gene

  • Deafness, Autosomal Recessive 59 2 3
  • Autosomal Recessive Deafness Type 59 Protein 3 4
  • PJVK 3 4
  • Pejvakin 3
  • PJVK, 6

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DFNB59 Gene

Start:
178,451,436 bp from pter
End:
178,461,422 bp from pter
Size:
9,987 bases
Orientation:
Plus strand

Genomic View for DFNB59 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for DFNB59 Gene

Protein Domains for DFNB59 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DFNB59 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q0ZLH3

UniProtKB/Swiss-Prot:

PJVK_HUMAN :
  • Q0ZLH3
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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DFNB59

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting 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
cytosol 2
nucleus 2
golgi apparatus 1
mitochondrion 1
peroxisome 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 for DFNB59 Gene

SuperPathways for DFNB59 Gene

No Data Available

Interacting Proteins for DFNB59 Gene

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 for DFNB59 Gene

Transcripts for DFNB59 Gene

mRNA/cDNA for DFNB59 Gene

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

Unigene Clusters for DFNB59 Gene

Deafness, autosomal recessive 59:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DFNB59

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DFNB59
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 (7.4).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DFNB59 Gene

SOURCE GeneReport for Unigene cluster for DFNB59 Gene Hs.87734

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia DFNB59 35
  • 99.72 (n)
  • 99.43 (a)
DFNB59 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia DFNB59 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DFNB59 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dfnb59 35
  • 86.65 (n)
  • 93.07 (a)
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 MAF
rs2288322 -- 178,458,390(+) ATAAT(C/T)CTTTA intron-variant
rs6718614 -- 178,461,804(+) gatct(G/T)gaact downstream-variant-500B
rs6753709 -- 178,454,664(+) ACATT(A/G)GTAGT intron-variant
rs6758838 -- 178,457,177(+) tccgc(C/T)agcct intron-variant
rs7600176 -- 178,459,298(+) CTGTT(C/T)TTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834467 CNV Loss 17160897

Relevant External Links for DFNB59 Gene

HapMap Linkage Disequilibrium report
DFNB59
Human Gene Mutation Database (HGMD)
DFNB59

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

Disorders for DFNB59 Gene

(1) OMIM Diseases for DFNB59 Gene (610219)

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.

(2) University of Copenhagen DISEASES for DFNB59 Gene

Relevant External Links for DFNB59

Genetic Association Database (GAD)
DFNB59
Human Genome Epidemiology (HuGE) Navigator
DFNB59
genes like me logo Genes that share disorders with DFNB59: view

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
  2. 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 48
  3. Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations. (PMID: 20739942) Mahdieh N. … Zeinali S. (J. Hum. Genet. 2010) 3 48
  4. 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
  5. A p.C343S missense mutation in PJVK causes progressive hearing loss. (PMID: 22617256) Mujtaba G. … Naz S. (Gene 2012) 3 4

Products for DFNB59 Gene

Sources for DFNB59 Gene

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