DFNA5 information

GSDME
Identifiers
Aliases	GSDME, ICERE-1, DFNA5, DFNA5, deafness associated tumor suppressor, gasdermin E
External IDs	OMIM: 608798; MGI: 1889850; HomoloGene: 3242; GeneCards: GSDME; OMA:GSDME - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	24,757,940 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	50,240,842 bp
RNA expression pattern
	Top expressed in
	germinal epithelium; ; jejunal mucosa; ; stromal cell of endometrium; ; endothelial cell; ; optic nerve; ; placenta; ; oocyte; ; secondary oocyte; ; middle temporal gyrus; ; decidua;
	Top expressed in
	pineal gland; ; mammillary body; ; temporal muscle; ; medial ganglionic eminence; ; triceps brachii muscle; ; sternocleidomastoid muscle; ; granulocyte; ; vastus lateralis muscle; ; lateral geniculate nucleus; ; habenula;
	More reference expression data
	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; hearing; 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
	1687
	54722
	ENSG00000105928
	ENSMUSG00000029821
	O60443
	Q9Z2D3
	NM_004403; NM_001127453; NM_001127454
	NM_018769
	NP_001120925; NP_001120926; NP_004394; NP_001120926.1
	NP_061239
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105928 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029821 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: DFNA5 deafness, autosomal dominant 5".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105928 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029821 – 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.

[pmid8589696-5] 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.

[pmid9450185-6] 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.

[entrez-7] "Entrez Gene: DFNA5 deafness, autosomal dominant 5".

DFNA5 information

and 5 Related for: DFNA5 information

DFNA5

Nonsyndromic deafness

GSDMD

NUPL2

List of OMIM disorder codes