EDA (ectodysplasin A)

2003-10-01  

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158813ENST00000338901Q92838
ENSG00000158813ENST00000374552Q92838
ENSG00000158813ENST00000374553Q92838
ENSG00000158813ENST00000374553A0A0U5J797
ENSG00000158813ENST00000503592D6RA95
ENSG00000158813ENST00000524573Q92838
ENSG00000158813ENST00000525810Q92838
ENSG00000158813ENST00000527388Q92838
ENSG00000158813ENST00000616899A0A0C4DGX3

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Cytokine-cytokine receptor interactionKEGGhsa04060
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
TNFR2 non-canonical NF-kB pathwayREACTOMER-HSA-5668541
TNFs bind their physiological receptorsREACTOMER-HSA-5669034

References

Pubmed IDYearTitleCitations
360291582023Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.0
364482322023A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.3
367650552023Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.2
370014122023A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.0
370910442023Association between Circulating Ectodysplasin A and Diabetic Kidney Disease.0
360291582023Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.0
364482322023A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.3
367650552023Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.2
370014122023A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.0
370910442023Association between Circulating Ectodysplasin A and Diabetic Kidney Disease.0
348170772022Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.2
348630152022Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.1
355466892022Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis.2
359646642022Ectodysplasin-A mRNA in exosomes released from activated hepatic stellate cells stimulates macrophage response.3
348170772022Understanding the impact of missense mutations on the structure and function of the EDA gene in X-linked hypohidrotic ectodermal dysplasia: A bioinformatics approach.2

Citation

Dessen P

EDA (ectodysplasin A)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/40402/favicon/css/lib/js/lib/jquery-3.5.1.min.js