InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EDA

Summary

InnateDB Gene

IDBG-74170.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDA

Gene Name

ectodysplasin A

Synonyms

ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; XHED; XLHED

Species

Homo sapiens

Ensembl Gene

ENSG00000158813

Encoded Proteins

IDBP-74172

ectodysplasin A

IDBP-74174

ectodysplasin A

IDBP-74180

ectodysplasin A

IDBP-483686

ectodysplasin A

IDBP-585174

ectodysplasin A

IDBP-596269

ectodysplasin A

IDBP-592442

ectodysplasin A

IDBP-810765

ectodysplasin A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:69616067-70039469

Strand

Forward strand

Band

q13.1

Transcripts

ENST00000374552	ENSP00000363680
ENST00000374553	ENSP00000363681
ENST00000374548
ENST00000338901	ENSP00000340611
ENST00000502251
ENST00000503592	ENSP00000423037
ENST00000510681
ENST00000525810	ENSP00000434195
ENST00000527388	ENSP00000434861
ENST00000533317
ENST00000524573	ENSP00000432585
ENST00000530321
ENST00000616899	ENSP00000481963

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005164	tumor necrosis factor receptor binding
GO:0005515	protein binding

Biological Process

GO:0001942	hair follicle development
GO:0006955	immune response
GO:0007160	cell-matrix adhesion
GO:0007165	signal transduction
GO:0007398	ectoderm development
GO:0010467	gene expression
GO:0030154	cell differentiation
GO:0042346	positive regulation of NF-kappaB import into nucleus
GO:0042475	odontogenesis of dentin-containing tooth
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043473	pigmentation
GO:0043588	skin development
GO:0051092	positive regulation of NF-kappaB transcription factor activity
GO:0060662	salivary gland cavitation
GO:0060789	hair follicle placode formation
GO:0061153	trachea gland development
GO:0090263	positive regulation of canonical Wnt signaling pathway

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005789	endoplasmic reticulum membrane
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0045177	apical part of cell

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000059327

View Gene Order

ENSBTAG00000012543

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04060

Cytokine-cytokine receptor interaction pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

D6RA95

UniProt Splice Variant

Entrez Gene

1896

UniGene

Hs.105407

RefSeq

NM_001005609 NM_001005610 NM_001005612 NM_001005613 NM_001399 XM_006724630

HUGO

HGNC:3157

OMIM

300451

CCDS

CCDS14394 CCDS35318 CCDS35319 CCDS43966 CCDS55436

HPRD

02347

IMGT

EMBL

AC002416 AF003528 AL158069 AL158141 AL392090 AL450448 AL450449

GenPept

RNA Seq Atlas

1896