EDA (ectodysplasin A)

2003-10-01 Affiliation

Identity

HGNC

EDA

LOCATION

Xq13.1

LOCUSID

1896

ALIAS

ECTD1,ED1,ED1-A1,ED1-A2,EDA-A1,EDA-A2,EDA1,EDA2,HED,HED1,ODT1,STHAGX1,TNLG7C,XHED,XLHED

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1896
MIM: 300451
HGNC: 3157
Ensembl: ENSG00000158813

Variants:

dbSNP: 1896
ClinVar: 1896
TCGA: ENSG00000158813
COSMIC: EDA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000158813	ENST00000338901	Q92838
ENSG00000158813	ENST00000374552	Q92838
ENSG00000158813	ENST00000374553	Q92838
ENSG00000158813	ENST00000374553	A0A0U5J797
ENSG00000158813	ENST00000503592	D6RA95
ENSG00000158813	ENST00000524573	Q92838
ENSG00000158813	ENST00000525810	Q92838
ENSG00000158813	ENST00000527388	Q92838
ENSG00000158813	ENST00000616899	A0A0C4DGX3

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cytokine-cytokine receptor interaction	KEGG	ko04060
Cytokine-cytokine receptor interaction	KEGG	hsa04060
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
TNFR2 non-canonical NF-kB pathway	REACTOME	R-HSA-5668541
TNFs bind their physiological receptors	REACTOME	R-HSA-5669034

References

Pubmed ID	Year	Title	Citations
20979233	2011	Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.	52
17102627	2006	EDA signaling and skin appendage development.	36
20195514	2010	Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.	31
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
19278982	2009	EDA gene mutations underlie non-syndromic oligodontia.	23
18657636	2008	Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.	19
19657145	2009	Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains.	16
19623212	2010	Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.	15
17256800	2007	A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.	12
20501644	2010	Crosstalk of EDA-A2/XEDAR in the p53 signaling pathway.	12

Citation

Dessen P

EDA (ectodysplasin A)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/40402/eda-(ectodysplasin-a)