DFNA5

GSDME
Identifiers
Aliases	GSDME, ICERE-1, DFNA5, DFNA5, deafness associated tumor suppressor, gasdermin E
External IDs	OMIM: 608798 MGI: 1889850 HomoloGene: 3242 GeneCards: GSDME
Gene location (Human) Chr. Chromosome 7 (human) Band 7p15.3 Start 24,698,355 bp End 24,757,940 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 B2.3 Start 50,165,868 bp End 50,240,842 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium jejunal mucosa stromal cell of endometrium endothelial cell optic nerve placenta oocyte secondary oocyte middle temporal gyrus spinal cord Top expressed in pineal gland mammillary body temporal muscle medial ganglionic eminence triceps brachii muscle sternocleidomastoid muscle vastus lateralis muscle lateral geniculate nucleus habenula digastric muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatidylinositol-4,5-bisphosphate binding cardiolipin binding Cellular component cytoplasm cytosol plasma membrane membrane Biological process inner ear receptor cell differentiation sensory perception of sound positive regulation of intrinsic apoptotic signaling pathway negative regulation of cell population proliferation programmed cell death cell death positive regulation of MAPK cascade necrotic cell death pyroptosis cellular response to tumor necrosis factor cellular response to virus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1687 54722 Ensembl ENSG00000105928 ENSMUSG00000029821 UniProt O60443 Q9Z2D3 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 Mb Chr 6: 50.17 – 50.24 Mb PubMed search
Wikidata
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Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.

Function

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.

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.

Further reading

• Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Thompson DA, Weigel RJ (1998). "Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas". Eur. J. Biochem. 252 (1): 169–77. doi:10.1046/j.1432-1327.1998.2520169.x. PMID 9523727.
• Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G (1998). "Nonsyndromic hearing impairment is associated with a mutation in DFNA5". Nat. Genet. 20 (2): 194–7. doi:10.1038/2503. PMID 9771715. S2CID 23534085.
• Grottke C, Mantwill K, Dietel M, Schadendorf D, Lage H (2000). "Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs". Int. J. Cancer. 88 (4): 535–46. doi:10.1002/1097-0215(20001115)88:4<535::AID-IJC4>3.0.CO;2-V. PMID 11058868. S2CID 24030621.
• Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT (2003). "Is DFNA5 a susceptibility gene for age-related hearing impairment?". Eur. J. Hum. Genet. 10 (12): 883–6. doi:10.1038/sj.ejhg.5200878. PMID 12461698.
• Gregan J, Van Laer L, Lieto LD, Van Camp G, Kearsey SE (2003). "A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment". Biochim. Biophys. Acta. 1638 (2): 179–86. doi:10.1016/s0925-4439(03)00083-8. hdl:10067/429010151162165141. PMID 12853124.
• Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X (2004). "A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family". Genomics. 82 (5): 575–9. doi:10.1016/S0888-7543(03)00175-7. PMID 14559215.
• Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H (2004). "A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation". Audiol. Neurootol. 9 (1): 34–46. doi:10.1159/000074185. PMID 14676472. S2CID 20139112.
• Masuda Y, Futamura M, Kamino H, Nakamura Y, Kitamura N, Ohnishi S, Miyamoto Y, Ichikawa H, Ohta T, Ohki M, Kiyono T, Egami H, Baba H, Arakawa H (2006). "The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage". J. Hum. Genet. 51 (8): 652–64. doi:10.1007/s10038-006-0004-6. PMID 16897187.
• Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJ (2007). "A novel DFNA5 mutation does not cause hearing loss in an Iranian family". J. Hum. Genet. 52 (6): 549–52. doi:10.1007/s10038-007-0137-2. PMID 17427029. S2CID 24786210.

External links

• GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview