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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Non-syndromic hearing impairment protein 5''' is a [[protein]] that in humans is encoded by the ''DFNA5'' [[gene]].<ref name="pmid8589696">{{cite journal | vauthors = 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 | title = Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 | journal = Hum Mol Genet | volume = 4 | issue = 11 | pages = 2159–63 | date = Mar 1996 | pmid = 8589696 | pmc =  | doi = 10.1093/hmg/4.11.2159 }}</ref><ref name="pmid9450185">{{cite journal | vauthors = 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 | title = 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 | journal = Eur J Hum Genet | volume = 5 | issue = 6 | pages = 397–405 | date = Mar 1998 | pmid = 9450185 | pmc = | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DFNA5 deafness, autosomal dominant 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1687| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Deafness, autosomal dominant 5
| HGNCid = 2810
| Symbol = DFNA5
| AltSymbols =; ICERE-1
| OMIM = 608798
| ECnumber = 
| Homologene = 3242
| MGIid = 1889850
| GeneAtlas_image1 = PBB_GE_DFNA5_203695_s_at_tn.png
| Function =  
| Component =
| Process = {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0035315 |text = hair cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1687
    | Hs_Ensembl = ENSG00000105928
    | Hs_RefseqProtein = NP_004394
    | Hs_RefseqmRNA = NM_004403
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 7
    | Hs_GenLoc_start = 24704500
    | Hs_GenLoc_end = 24763888
    | Hs_Uniprot = O60443
    | Mm_EntrezGene = 54722
    | Mm_Ensembl = ENSMUSG00000029821
    | Mm_RefseqmRNA = NM_018769
    | Mm_RefseqProtein = NP_061239
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 6
    | Mm_GenLoc_start = 50136991
    | Mm_GenLoc_end = 50193448
    | Mm_Uniprot = Q3TBE9
  }}
}}
'''Deafness, autosomal dominant 5''', also known as '''DFNA5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DFNA5 deafness, autosomal dominant 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1687| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 deafness|Nonsyndromic hearing impairment]] is associated with a mutation in this gene.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: DFNA5 deafness, autosomal dominant 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1687| accessdate = }}</ref>
}}


==References==
The observation that DFNA5 is [[epigenetics|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.<ref name = "de_Beeck_2012">{{cite journal | vauthors = de Beeck KO, Van Laer L, Van Camp G | title = DFNA5, a gene involved in hearing loss and cancer: a review | journal = The Annals of Otology, Rhinology, and Laryngology | volume = 121 | issue = 3 | pages = 197–207 | date = Mar 2012 | pmid = 22530481 }}</ref>
{{reflist|2}}
 
==Further reading==
== References ==
{{refbegin | 2}}
{{reflist}}
{{PBB_Further_reading
{{Clear}}
| citations =
 
*{{cite journal | author=van Camp G, Coucke P, Balemans W, ''et al.'' |title=Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. |journal=Hum. Mol. Genet. |volume=4 |issue= 11 |pages= 2159-63 |year= 1996 |pmid= 8589696 |doi=  }}
== Further reading ==
*{{cite journal | author=Andersson B, Wentland MA, Ricafrente JY, ''et al.'' |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107-13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138 }}
{{refbegin|33em}}
*{{cite journal | author=Yu W, Andersson B, Worley KC, ''et al.'' |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353-8 |year= 1997 |pmid= 9110174 |doi= }}
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Anal. Biochem. | volume = 236 | issue = 1 | pages = 107–13 | year = 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
*{{cite journal  | author=Van Laer L, Van Camp G, van Zuijlen D, ''et al.'' |title=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. |journal=Eur. J. Hum. Genet. |volume=5 |issue= 6 |pages= 397-405 |year= 1998 |pmid= 9450185 |doi=  }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Res. | volume = 7 | issue = 4 | pages = 353–8 | year = 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
*{{cite journal | author=Thompson DA, Weigel RJ |title=Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas. |journal=Eur. J. Biochem. |volume=252 |issue= 1 |pages= 169-77 |year= 1998 |pmid= 9523727 |doi= }}
* {{cite journal | vauthors = Thompson DA, Weigel RJ | title = Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas | journal = Eur. J. Biochem. | volume = 252 | issue = 1 | pages = 169–77 | year = 1998 | pmid = 9523727 | doi = 10.1046/j.1432-1327.1998.2520169.x }}
*{{cite journal | author=Van Laer L, Huizing EH, Verstreken M, ''et al.'' |title=Nonsyndromic hearing impairment is associated with a mutation in DFNA5. |journal=Nat. Genet. |volume=20 |issue= 2 |pages= 194-7 |year= 1998 |pmid= 9771715 |doi= 10.1038/2503 }}
* {{cite journal | vauthors = 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 | title = Nonsyndromic hearing impairment is associated with a mutation in DFNA5 | journal = Nat. Genet. | volume = 20 | issue = 2 | pages = 194–7 | year = 1998 | pmid = 9771715 | doi = 10.1038/2503 }}
*{{cite journal | author=Grottke C, Mantwill K, Dietel M, ''et al.'' |title=Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs. |journal=Int. J. Cancer |volume=88 |issue= 4 |pages= 535-46 |year= 2000 |pmid= 11058868 |doi= }}
* {{cite journal | vauthors = Grottke C, Mantwill K, Dietel M, Schadendorf D, Lage H | title = Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs | journal = Int. J. Cancer | volume = 88 | issue = 4 | pages = 535–46 | year = 2000 | pmid = 11058868 | doi = 10.1002/1097-0215(20001115)88:4<535::AID-IJC4>3.0.CO;2-V }}
*{{cite journal | author=Van Laer L, DeStefano AL, Myers RH, ''et al.'' |title=Is DFNA5 a susceptibility gene for age-related hearing impairment? |journal=Eur. J. Hum. Genet. |volume=10 |issue= 12 |pages= 883-6 |year= 2003 |pmid= 12461698 |doi= 10.1038/sj.ejhg.5200878 }}
* {{cite journal | vauthors = Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT | title = Is DFNA5 a susceptibility gene for age-related hearing impairment? | journal = Eur. J. Hum. Genet. | volume = 10 | issue = 12 | pages = 883–6 | year = 2003 | pmid = 12461698 | doi = 10.1038/sj.ejhg.5200878 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Gregan J, Van Laer L, Lieto LD, Van Camp G, Kearsey SE | title = A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment | journal = Biochim. Biophys. Acta | volume = 1638 | issue = 2 | pages = 179–86 | year = 2003 | pmid = 12853124 | doi = 10.1016/s0925-4439(03)00083-8 }}
*{{cite journal  | author=Gregan J, Van Laer L, Lieto LD, ''et al.'' |title=A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. |journal=Biochim. Biophys. Acta |volume=1638 |issue= 2 |pages= 179-86 |year= 2003 |pmid= 12853124 |doi=  }}
* {{cite journal | vauthors = Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X | title = A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family | journal = Genomics | volume = 82 | issue = 5 | pages = 575–9 | year = 2004 | pmid = 14559215 | doi = 10.1016/S0888-7543(03)00175-7 }}
*{{cite journal  | author=Hillier LW, Fulton RS, Fulton LA, ''et al.'' |title=The DNA sequence of human chromosome 7. |journal=Nature |volume=424 |issue= 6945 |pages= 157-64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 }}
* {{cite journal | vauthors = Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H | title = A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation | journal = Audiol. Neurootol. | volume = 9 | issue = 1 | pages = 34–46 | year = 2004 | pmid = 14676472 | doi = 10.1159/000074185 }}
*{{cite journal | author=Yu C, Meng X, Zhang S, ''et al.'' |title=A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. |journal=Genomics |volume=82 |issue= 5 |pages= 575-9 |year= 2004 |pmid= 14559215 |doi= }}
* {{cite journal | vauthors = 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 | title = The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage | journal = J. Hum. Genet. | volume = 51 | issue = 8 | pages = 652–64 | year = 2006 | pmid = 16897187 | doi = 10.1007/s10038-006-0004-6 }}
*{{cite journal | author=Bischoff AM, Luijendijk MW, Huygen PL, ''et al.'' |title=A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. |journal=Audiol. Neurootol. |volume=9 |issue= 1 |pages= 34-46 |year= 2004 |pmid= 14676472 |doi= 10.1159/000074185 }}
* {{cite journal | vauthors = Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJ | title = A novel DFNA5 mutation does not cause hearing loss in an Iranian family | journal = J. Hum. Genet. | volume = 52 | issue = 6 | pages = 549–52 | year = 2007 | pmid = 17427029 | doi = 10.1007/s10038-007-0137-2 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Masuda Y, Futamura M, Kamino H, ''et al.'' |title=The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage. |journal=J. Hum. Genet. |volume=51 |issue= 8 |pages= 652-64 |year= 2006 |pmid= 16897187 |doi= 10.1007/s10038-006-0004-6 }}
*{{cite journal | author=Van Laer L, Meyer NC, Malekpour M, ''et al.'' |title=A novel DFNA5 mutation does not cause hearing loss in an Iranian family. |journal=J. Hum. Genet. |volume=52 |issue= 6 |pages= 549-52 |year= 2007 |pmid= 17427029 |doi= 10.1007/s10038-007-0137-2 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1434/  GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview]
 
 
{{gene-7-stub}}

Latest revision as of 18:24, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.[1][2][3]

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.[3]

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.[4]

References

  1. ↑ 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. PMID 8589696.
  2. ↑ 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. PMID 9450185.
  3. ↑ 3.0 3.1 "Entrez Gene: DFNA5 deafness, autosomal dominant 5".
  4. ↑ 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. PMID 22530481.

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.
  • 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.
  • 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. 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.
  • 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.

External links


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