Otoferlin

Alternative Names

OTOF

Length

101,496 bases

No. of Exons

No. of isoforms

Protein Name

Otoferlin

Molecular Mass

226753 Da

Amino Acid Count

1997

Genomic Location

chr2:26,457,203-26,558,698

Gene Map Locus

2p23-p22

Description

Using a positional cloning strategy combined to a candidate gene approach, the otoferlin gene (OTOF) has been identified, as responsible for neurosensory nonsyndromic recessive deafness, DFNB9. The OTOF gene codes for the protein: otoferlin, which is present in the inner ear and brain. The exact function of otoferlin is not yet known, but it appears to be essential for normal hearing.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_194248.2:c.4157C>T	Palestine	NC_000002.12:g.26467435G>A	Pathogenic	Pathogenic	Deafness, Autosomal Recessive 9	NG_009937.1:g.96264C>T; NM_194248.2:c.4157C>T; NP_919224.1:p.Thr1386Ile	397515600	65801
NM_194248.2:c.4491T>A	Lebanon	chr2:26466723	Pathogenic	Pathogenic	Deafness, Autosomal Recessive 9	NG_009937.1:g.96976T>A; NM_194248.2:c.4491T>A; NP_919224.1:p.Tyr1497Ter	80356600	6133
NM_194248.2:c.709C>T	United Arab Emirates	NC_000002.12:g.26502301G>A		Likely Pathogenic	Deafness, Autosomal Recessive 9	NG_009937.1:g.61398C>T; NM_194248.2:c.709C>T ; NP_919224.1:p.Arg237Ter	397515610	65814
NM_194248.3:c.5566C>T	United Arab Emirates	NC_000002.12:g.26460998G>A	Likely Pathogenic, Uncertain Significance			NG_009937.1:g.102701C>T; NM_194248.3:c.5566C>T; NP_919224.1:p.Arg1856Trp	368155547	48263

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External Links

http://ghr.nlm.nih.gov/gene=otof

Contributors

Sami Bizzari: 03.10.2023
Pratibha Nair: 08.11.2020
Tasneem Obeid: 14.09.2011
Ghazi O. Tadmouri: 06.02.2005
Ghazi O. Tadmouri: 02.02.2005

Edit History

Sami Bizzari: 03.10.2023
Pratibha Nair: 08.11.2020
Pratibha Nair: 25.02.2019
Sami Bizzari: 19.12.2018
Tasneem Obeid: 29.12.2011
Sarah Al-Haj Ali: 27.02.2005
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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