EDA

GENE INFORMATION

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Gene name

EDA (HGNC Symbol)

Synonyms

ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, ODT1, XHED, XLHED

Description

ectodysplasin A (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

X (Chromosome progress)

Cytoband

q13.1

Chromosome location (bp)

68835911 - 69259319

Ensembl

ENSG00000158813 (version 73.37)

Entrez gene

1896

UniProt

Q92838 (UniProt - Evidence at protein level)

neXtProt

NX_Q92838

Antibodypedia

EDA antibodies
 

PROTEIN VIEW

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EDA-001
 
EDA-002
 
EDA-005
 
EDA-007
 
EDA-008
 
EDA-009
 
EDA-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)

EDA-001 ENSP00000363681
ENST00000374553
Q92838
Show all »
Show » Show » 389 41.1 No 1
EDA-002 ENSP00000363680
ENST00000374552
Q92838
Show all »
Show » Show » 391 41.3 No 1
EDA-005 ENSP00000423037
ENST00000503592
D6RA95
Show all »
Show » 137 13.8 No 0
EDA-007 ENSP00000434195
ENST00000525810
Q92838
Show all »
Show » Show » 135 14 No 1
EDA-008 ENSP00000432585
ENST00000524573
Q92838
Show all »
Show » Show » 386 40.7 No 1
EDA-009 ENSP00000434861
ENST00000527388
Q92838
Show all »
Show » Show » 148 15.6 No 1
EDA-201 ENSP00000340611
ENST00000338901
Q92838
Show all »
Show » Show » 148 15.6 No 1