Pejvakin

Pejvakin is a protein that in humans is encoded by the PJVK gene.^[5]

PJVK
Identifiers
Aliases	PJVK, DFNB59, deafness, autosomal recessive 59, pejvakin
External IDs	OMIM: 610219; MGI: 2685847; HomoloGene: 19773; GeneCards: PJVK; OMA:PJVK - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.2 Start 178,451,346 bp[1] End 178,462,102 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 C3 Start 76,478,820 bp[2] End 76,488,900 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm right testis left testis left ovary anterior pituitary right ovary right lobe of liver Brodmann area 9 C1 segment left lobe of thyroid gland Top expressed in embryo embryo proximal tubule genital tubercle ventricular zone tail of embryo islet of Langerhans mesencephalon right kidney human kidney More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 494513 381375 Ensembl ENSG00000204311 ENSMUSG00000075267 UniProt Q0ZLH3 Q0ZLH2 RefSeq (mRNA) NM_001042702 NM_001353775 NM_001353776 NM_001353777 NM_001353778 NM_001369912 NM_001080711 RefSeq (protein) NP_001036167 NP_001340704 NP_001340705 NP_001340706 NP_001340707 NP_001356841 NP_001074180 Location (UCSC) Chr 2: 178.45 – 178.46 Mb Chr 2: 76.48 – 76.49 Mb PubMed search [3] [4]
Wikidata
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Function

See also: Nonsyndromic deafness

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].