Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.[5][6][7]

GSDME
Identifiers
AliasesGSDME, ICERE-1, DFNA5, DFNA5, deafness associated tumor suppressor, gasdermin E
External IDsOMIM: 608798; MGI: 1889850; HomoloGene: 3242; GeneCards: GSDME; OMA:GSDME - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004403
NM_001127453
NM_001127454

NM_018769

RefSeq (protein)

NP_001120925
NP_001120926
NP_004394
NP_001120926.1

NP_061239

Location (UCSC)Chr 7: 24.7 – 24.76 MbChr 6: 50.17 – 50.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.[7]

The observation that DFNA5 is epigenetically inactivated in a large number of cancers of frequent types (gastric, colorectal, and breast) is another important finding and is in line with its apoptosis-inducing properties. Indeed, if apoptosis is an intrinsic feature of DFNA5, shutting the gene down in tumor cells makes them more susceptible to uncontrolled cellular growth. Moreover, the fact that DFNA5 is regulated by P53 strongly suggests that DFNA5 is a tumor suppressor gene.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105928Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029821Ensembl, 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. ^ van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR (Mar 1996). "Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15". Hum Mol Genet. 4 (11): 2159–63. doi:10.1093/hmg/4.11.2159. hdl:2066/20568. PMID 8589696.
  6. ^ Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P (Mar 1998). "Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea". Eur J Hum Genet. 5 (6): 397–405. doi:10.1159/000484798. PMID 9450185.
  7. ^ a b "Entrez Gene: DFNA5 deafness, autosomal dominant 5".
  8. ^ de Beeck KO, Van Laer L, Van Camp G (Mar 2012). "DFNA5, a gene involved in hearing loss and cancer: a review". The Annals of Otology, Rhinology, and Laryngology. 121 (3): 197–207. doi:10.1177/000348941212100310. PMID 22530481. S2CID 32637216.

Further reading

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