Pejvakin

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
View/Edit Human View/Edit Mouse

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

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].

References

1. GRCh38: Ensembl release 89: ENSG00000204311 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000075267 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Pejvakin" . Retrieved 2020-05-18.

Further reading

• Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C (July 2006). "Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy". Nat. Genet. 38 (7): 770–8. doi:10.1038/ng1829. PMID   16804542. S2CID   2443891.
• Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ (June 2007). "Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction". Hum. Mutat. 28 (6): 571–7. doi: 10.1002/humu.20478 . PMID   17301963. S2CID   23186967.
• Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H (July 2007). "Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment". Hum. Mutat. 28 (7): 718–23. doi:10.1002/humu.20510. PMID   17373699. S2CID   37864188.
• Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH (September 2007). "Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families". Clin. Genet. 72 (3): 261–3. doi:10.1111/j.1399-0004.2007.00852.x. PMID   17718865. S2CID   12661287.
• Xu S, Chen Z, Lu Y, Wei Q, Cao X, Xing G, Bu X (October 2008). "[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy]". Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi (in Chinese). 22 (19): 880–2. PMID   19160860.
• Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD (November 2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC   2775832 . PMID   19913121.
• Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S (October 2010). "Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study". Diabetes Care. 33 (10): 2250–3. doi:10.2337/dc10-0452. PMC   2945168 . PMID   20628086.
• Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S (October 2010). "Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations". J. Hum. Genet. 55 (10): 639–48. doi: 10.1038/jhg.2010.96 . PMID   20739942.
• Borck G, Rainshtein L, Hellman-Aharony S, Volk AE, Friedrich K, Taub E, Magal N, Kanaan M, Kubisch C, Shohat M, Basel-Vanagaite L (September 2012). "High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel". Clin. Genet. 82 (3): 271–6. doi:10.1111/j.1399-0004.2011.01741.x. PMID   21696384. S2CID   7014274.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.