DFNA5

GENE INFORMATION

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Gene name

DFNA5 (HGNC Symbol)

Synonyms

ICERE-1

Description

Deafness, autosomal dominant 5 (HGNC Symbol)

Entrez gene summary

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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

7

Cytoband

p15.3

Chromosome location (bp)

24698353 - 24758113

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105928 (version 78.38)

Entrez gene

1687

UniProt

O60443 (UniProt - Evidence at protein level)

neXtProt

NX_O60443

Antibodypedia

DFNA5 antibodies
 

PROTEIN VIEW

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DFNA5-001
 
DFNA5-003
 
DFNA5-005
 
DFNA5-007
 
DFNA5-009
 
DFNA5-010
 
DFNA5-012
 
DFNA5-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DFNA5-001 ENSP00000339587
ENST00000342947
O60443
Show all »
Show » Show » 496 54.6 No 0
DFNA5-003 ENSP00000386670
ENST00000409775
O60443
Show all »
Show » Show » 496 54.6 No 0
DFNA5-005 ENSP00000387119
ENST00000409970
O60443
Show all »
Show » Show » 332 36 No 0
DFNA5-007 ENSP00000413963
ENST00000414428
Show » 18 2 No 0
DFNA5-009 ENSP00000398445
ENST00000446822
Show » 192 20.8 No 0
DFNA5-010 ENSP00000389874
ENST00000415480
Show » 155 16.9 No 0
DFNA5-012 ENSP00000395540
ENST00000430096
H7C0L2
Show all »
Show » 55 5.8 Yes 0
DFNA5-201 ENSP00000401332
ENST00000419307
O60443
Show all »
Show » Show » 332 36 No 0