DFNA5

GENERAL INFORMATION

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Gene name

DFNA5

Gene description

Deafness, autosomal dominant 5

Protein class

Disease related genes
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA011326 , CAB019306
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000342947
 
ENST00000409775
 
ENST00000409970
 
ENST00000414428
 
ENST00000415480
 
ENST00000419307
 
ENST00000430096
 
ENST00000446822
 
 
 
 


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