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EDA Gene

protein-coding GIFtS: 57

GC0XP068752

ectodysplasin A
(Previous names: ectodermal dysplasia 1, anhidrotic )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ED1, EDA2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ED1 ^², ³, ⁵
ED1-A1 ^¹, ²
ED1-A2 ^¹, ²
EDA1 ^¹, ²
EDA2 ^², ³
HED ^¹, ², ⁵
OTTHUMP00000023461 ^²
OTTHUMP00000023463 ^²
XHED ^¹, ²
XLHED ^¹, ²

Descriptions
EDA protein ^³
Ectodermal dysplasia protein ^³
X-linked anhidroitic ectodermal dysplasia protein ^²
ectodermal dysplasia 1, anhidrotic ^¹
ectodysplasin A ^²

External Ids
HGNC: 3157¹
Entrez Gene: 1896²
UniProtKB: Q92838³
Ensembl: ENSG00000158813⁷

Search outside databases for aliases for EDA gene

Previous GC identifer: GC0XP068618

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for EDA:

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]

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838

Function: Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of

ectodermal organs. Isoform A1 binds only to the receptor EDAR, while isoform A2 binds exclusively

to the receptor XEDAR

Gene Wiki entry for EDA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the EDA gene

Entrez Gene cytogenetic band: Xq12-q13.1 Ensembl cytogenetic band: Xq13.1 HGNC cytogenetic band: Xq12-q13.1

EDA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP068752: (about GC identifiers)

Start:	68,752,636 bp from pter
End:	69,176,047 bp from pter
Size:	423,412 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011669.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838 (See protein sequence)

Recommended Name: Ectodysplasin-A

Size: 391 amino acids; 41294 Da

Subunit: Homotrimer. The homotrimers may then dimerize and form higher order oligomers

Subcellular location: Cell membrane; Single-pass type II membrane protein

Subcellular location: Ectodysplasin-A, secreted form: Secreted

PDB structure from and Proteopedia :

1RJ7 (3D)

1RJ8 (3D)

Secondary accessions: A0AUZ2 A2A337 O75910 Q5JS00 Q5JUM7 Q9UP77 Q9Y6L0 Q9Y6L1 Q9Y6L2 Q9Y6L3 Q9Y6L4

Alternative splicing: 8 isoforms: Q92838-1 Q92838-2 Q92838-3 Q92838-4 Q92838-5 Q92838-6 Q92838-7 Q92838-8

(Additional isoforms seem to exist)

Post-translational modifications:

N-glycosylated¹

Processing by furin produces a secreted form¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (6 alternative transcripts):

NP_001005609.1 NP_001005610.1 NP_001005611.1 NP_001005612.1 NP_001005615.1 NP_001390.1

ENSEMBL proteins:

ENSP00000363680 ENSP00000363681 ENSP00000379324 ENSP00000340611 ENSP00000363674

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for EDA (EDA-A1, EDA-A2)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (EDA)
	Browse Abnova for Human Recombinant Proteins

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005624	membrane fraction	TAS	8696334
GO:0005856	cytoskeleton	TAS	10484778
GO:0005886	plasma membrane	TAS	9736768 10484778
GO:0016021	integral to membrane	TAS	8696334

About this table

Antibodies for EDA:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	R&D Systems Antibodies for EDA (EDA (pan), EDA-A2)
	Antibodies from Abcam (EDA), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (EDA)
	Search Novus for antibodies for EDA

Assays for EDA:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	R&D Systems ELISAs for EDA (EDA (pan)) (see all)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q92838

ProtoNet protein and cluster: Q92838

2 Blocks protein families:

IPB006052 Tumor Necrosis Factor

IPB008160 Collagen triple helix repeat

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838

Similarity: Belongs to the tumor necrosis factor family

Similarity: Contains 1 collagen-like domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_001399

Applied Biosystems Silencer® siRNAs for EDA

Sigma-Aldrich siRNA and siRNA Panels for EDA

Sigma-Aldrich shRNA for EDA

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001005609
Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001005609
untagged cDNA clones in CMV expression vector (see all 8): NM_001005609

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001399

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838

Function: Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of

ectodermal organs. Isoform A1 binds only to the receptor EDAR, while isoform A2 binds exclusively

to the receptor XEDAR

14 MGI mutant phenotypes (inferred from 20 alleles) (MGI details for Eda):

craniofacial	digestive/alimentary	endocrine/exocrine gland	growth/size	immune system
limbs/digits/tail	pigmentation	renal/urinary system	reproductive system	respiratory system
skeleton	skin/coat/nails	touch/vibrissae	vision/eye

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	IDA	11039935
GO:0005164	tumor necrosis factor receptor binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for EDA

1 Interacting protein for EDA (Q92838¹) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
EDAR Q9UNE0¹ EBI-529425, EBI-529289
About this table
5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):
GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response IEA --
GO:0007165 signal transduction TAS 8696334
GO:0007275 multicellular organismal development IEA --
GO:0007398 ectoderm development TAS 8696334
GO:0030154 cell differentiation IEA --
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for EDA

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 8): NM_001399

Sigma-Aldrich siRNA and siRNA Panels for EDA

Sigma-Aldrich shRNA for EDA

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001005609 NM_001005610 NM_001005611 NM_001005612 NM_001005615 NM_001399

REFSEQ mRNAs for EDA gene (6 alternative transcripts):

NM_001005609.1 NM_001005610.1 NM_001005611.1 NM_001005612.1 NM_001005615.1 NM_001399.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001005609 NM_001005610 NM_001005611 NM_001005612 NM_001005615 NM_001399

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): NM_001005609
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): NM_001005609
                                 untagged cDNA clones in CMV expression vector (see all 8): NM_001005609

Additional cDNA sequence:

AF040628.1 AF060999.1 AF061189.1 AF061190.1 AF061191.1 AF061192.1 AF061193.1 AF061194.1

AK311532.1 BC126143.1 BC144049.1 BC144051.1 U59228.1

7 DOTS entries:

DT.206235 DT.92324381 DT.121314494 DT.206070 DT.91759198 DT.91759200 DT.92009460

24/33 AceView cDNA sequences (see all 33 ):

BQ004154 BU185670 BU681223 AI015138 BU608133 AA363334 BQ008767 BQ682012

BQ676905 BU168874 BF935871 AF060999 BF002957 NM_001399 BE159499 BE892420

BU162989 AF061192 AF061193 AA879442 AW473357 AF040628 BQ422683 AA497125

highest scoring ESTs for EDA:

AF040628 AA363334 AA497125 AI015138 AI689443 AW473357 AW959387 BE159499 BE708154 BE892420

Unigene Cluster for EDA:

Ectodysplasin A

Hs.105407 [show with all ESTs]

Unigene Representative Sequence: AF040628

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for EDA

ExUns:	1	^	2	^	3	^	4	^	5
SP1:			-
SP2:					-		-
SP3:			-		-

About this scheme

ECgene alternative splicing isoforms for EDA

5 Ensembl transcripts including schematic representations:

ENST00000374552 ENST00000374553 ENST00000396002 ENST00000338901 ENST00000374548

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EDA expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EDA

¹ / ² / ³

14 probe-sets matching EDA gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37140_s_at²^{, 3}	U95-A	1	1.00	1.00	0.73	1.07	AF061193	0.80	0.80	0.80	1
37139_at²^{, 3}	U95-A	1	1.00	1.00	0.77	0.94	AF040628	1.00	0.87	0.94	1
211131_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF061193	0.80	0.80	0.80	1
211128_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF061191	0.60	1.00	0.82	1
206217_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001399	0.60	1.00	0.82	1
211127_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	AF061194	0.60	0.75	0.68	1
211130_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	AF061190	0.60	0.75	0.68	1
211129_x_at²^{, 3}	U133-A	2	1.00	0.95	--	--	AF061192	0.60	0.75	0.68	1
211131_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211128_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206217_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211127_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
211130_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
211129_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks EDA for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.105407
Expression variation in blood from EXPOLDB for EDA
UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838
Tissue specificity: Not abundant; expressed in specific cell types of ectodermal (but not
mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver,
muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for EDA gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	eda¹	--	ectodysplasin A	92.57(n) 92.49(a)	491935 NM_001014770.1 NP_001014770.1
chimpanzee (Pan troglodytes)	EDA¹	--	ectodysplasin A	99.83(n) 100(a)	473652 XM_529025.2 XP_529025.2
cow (Bos taurus)	EDA¹	--	ectodysplasin A	88.58(n) 91.3(a)	616179 XM_001250469.1 XP_001250470.1
rat (Rattus norvegicus)	Eda¹	--	ectodysplasin-A	91.8(n) 94.82(a)	302424 XM_228582.4 XP_228582.4
mouse (Mus musculus)	Eda^{1, 5}	X (37.00 cM)⁵	ectodysplasin-A^{1, 5}	91.47(n)¹ 94.63(a)¹	13607¹ NM_010099.2¹ NP_034229.1¹ AF004434⁵ AF004435⁵ (see all 27)

About this table Species with no ortholog for EDA

ENSEMBL Gene Tree for EDA

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for EDA gene

COL17A1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1438 NCBI SNPs in EDA are shown (see all 1438 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 325)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs762663^1,2	A,C,F,H,O	68753915(+)	`AATTTA/TAAAAA`	6	--	int¹ ng3¹		2		NA EU	204
	rs1938019^1,2	A,C,F,H,O	69094450(-)	`TGGGCA/CTGGTA`	4	--	ng3¹ int¹		12		EU EA WA NA	946
	rs1938018^1,2	C,F,H,O	69094486(-)	`ACTTAT/CAAACT`	4	--	int¹ ng3¹		13		NS EU EA WA	821
	rs3795170^1,2	A,C,F,H	69175240(+)	`TCTTTG/TGCTGA`	2	--	ut3¹		12		EU EA WA NA	996
	rs3811374^1,2	A,C,F,H	68752130(-)	`TCGCCC/TGAAGA`	6	--	ng5¹		4		EU EA WA	412
	rs1327346^1,2	A,C,F,H	68751820(+)	`CTGTCT/AACTCA`	6	--	ng5¹		8		EU EA WA NA	778
	rs12688186^1,2	C,F,H	68997861(+)	`CAAACC/AAGCAG`	5	--	ng3¹ int¹		8		EU EA WA NA	634
	rs3764746^1,2	C,F,H	69174697(+)	`AAAGAG/CAGGAC`	2	--	ut3¹ ese³ trp³		8		EU EA WA	732
--	rs1203003^1,2	C	68997565(-)	`AATGTT/CCATTT`	5	--	int¹ ut3¹		1		MN	184
	rs11798465^1,2	C	68751427(+)	`GAGTGC/TGTAGT`	6	--	ng5¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for EDA (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300451 disorders: 305100 300606

UniProtKB/Swiss-Prot: EDA_HUMAN, Q92838

Defects in EDA are the cause of ectodermal dysplasia, type 1 (ED1) [MIM:305100]; also

known as Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia (XLHED).

Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two

or more ectodermal structures. ED1 is a disease characterized by sparse hair (atrichosis or

hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat

glands. ED1 is the most common form of over 150 clinically distinct ectodermal dysplasias

Defects in EDA are a cause of hypodontia [MIM:300606]. Hypodontia is agenesis of two or

more permanent teeth without associated systemic disorders. Hypodontia due to EDA defects is an

X-linked recessive disorder. Affected individuals have normal hair, skin, and nails, but lack

primary and permanent teeth

7 Novoseek disease relationships for EDA gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ectodermal dysplasia, hypohidrotic	98.44	67	12673367 (3), 18666859 (3), 12021844 (3), 17686277 (2) (see all 37)
ectodermal dysplasia	90.10	7	17371397 (1), 18510547 (1), 11751679 (1), 11035039 (1) (see all 6)
hypodontia	89.33	19	19278982 (4), 18821982 (2), 18688569 (2), 17256800 (1) (see all 7)
hypohidrosis	88.69	3	19127222 (1)
genetic disorder	51.24	1	11416205 (1)
necrosis	39.26	23	15294294 (2), 16547002 (1), 17371397 (1), 14699584 (1) (see all 13)
tumors	4.46	20	15294294 (2), 16547002 (1), 17371397 (1), 14699584 (1) (see all 11)

About this table

GeneTests: EDA

Hypohidrotic Ectodermal Dysplasia

Human Gene Mutation Database: EDA

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/96 PubMed articles for EDA gene (see all 96 ):

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. (PubMed id 8696334)^{2, 3, 4} Kere J.... Schlessinger D. (1996)
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. (PubMed id 11416205)^{1, 3, 4} Chen Y.... Morris N.P. (2001)
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. (PubMed id 9736768)^{1, 3, 4} Bayes M.... Kere J. (1998)
A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia. (PubMed id 16583127)^{1, 3, 4} Tao R.... He L. (2006)
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. (PubMed id 11378824)^{1, 3, 4} Vincent M.-C.... Calvas P. (2001)
A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia. (PubMed id 17256800)^{1, 3, 4} Tarpey P....Patel P.I. (2007)
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg). (PubMed id 10469321)^{1, 3, 4} Martinez F.... Prieto F. (1999)
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. (PubMed id 9507389)^{1, 3, 4} Ferguson B.M....Zonana J. (1998)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 1896	HGNC: 3157	AceView: EDA	Ensembl:ENSG00000158813	euGenes: HUgn1896
ECgene: EDA	H-InvDB: EDA

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for EDA	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=EDA

Licensable Technologies for EDA
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for EDA:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for EDA-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for EDA		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for EDA		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Search for Recombinant Proteins
	Antibodies (EDA)
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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	Recombinant Proteins (EDA)
	Antibodies (EDA)

Search OriGene for EDA

Search Tocris compounds for EDA

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for EDA

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
EDA Gene at Home site.
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EDA Gene

protein-coding GIFtS: 57

Aliases &
Descriptions
for EDA

Summaries
for EDA

Genomic Location
for EDA

Proteins
for EDA

Protein Domains/
Families
for EDA

Gene Function
for EDA

Pathways & Interactions
for EDA

Drugs & Compounds
for EDA

Transcripts
for EDA

Expression
for EDA

Orthologs
for EDA

Paralogs
for EDA

SNPs/Variants
for EDA

Disorders & Mutations
for EDA

Medical News
for EDA

Publications
for EDA

Search for EDA

Genome Databases showing EDA

Other Databases showing EDA

Specialized Databases showing EDA

Licensable Technologies
for EDA

Services
for EDA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EDA Gene

protein-coding GIFtS: 57

Aliases & Descriptionsfor EDA

Summariesfor EDA

Genomic Locationfor EDA

Proteinsfor EDA

Protein Domains/Familiesfor EDA

Gene Functionfor EDA

Pathways & Interactionsfor EDA

Drugs & Compoundsfor EDA

Transcriptsfor EDA

Expression for EDA

Orthologsfor EDA

Paralogsfor EDA

SNPs/Variantsfor EDA

Disorders & Mutationsfor EDA

Medical Newsfor EDA

Publicationsfor EDA

Search for EDA

Genome Databases showing EDA

Other Databases showing EDA

Specialized Databases showing EDA

Licensable Technologiesfor EDA

Servicesfor EDA

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for EDA

Summaries
for EDA

Genomic Location
for EDA

Proteins
for EDA

Protein Domains/
Families
for EDA

Gene Function
for EDA

Pathways & Interactions
for EDA

Drugs & Compounds
for EDA

Transcripts
for EDA

Expression
for EDA

Orthologs
for EDA

Paralogs
for EDA

SNPs/Variants
for EDA

Disorders & Mutations
for EDA

Medical News
for EDA

Publications
for EDA

Licensable Technologies
for EDA

Services
for EDA