Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1896
Gene name Gene Name - the full gene name approved by the HGNC.
Ectodysplasin A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EDA
Synonyms (NCBI Gene) Gene synonyms aliases
ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED
Disease Acronyms (UniProt) Disease acronyms from UniProt database
STHAGX1, XHED
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs132630308 T>A,C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs132630309 G>T Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, non coding transcript variant, missense variant
rs132630310 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs132630311 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs132630312 C>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051411 hsa-let-7f-5p CLASH 23622248
MIRT951892 hsa-let-7a CLIP-seq
MIRT951893 hsa-let-7b CLIP-seq
MIRT951894 hsa-let-7c CLIP-seq
MIRT951895 hsa-let-7d CLIP-seq
Transcription factors
Transcription factor Regulation Reference
LEF1 Unknown 12039047
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IDA 11039935
GO:0005123 Function Death receptor binding IBA 21873635
GO:0005164 Function Tumor necrosis factor receptor binding IEA
GO:0005515 Function Protein binding IPI 11039935, 11780064, 24722188, 25416956, 25910212, 31515488, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300451 3157 ENSG00000158813
Protein
UniProt ID Q92838
Protein name Ectodysplasin-A (Ectodermal dysplasia protein) (EDA protein) [Cleaved into: Ectodysplasin-A, membrane form; Ectodysplasin-A, secreted form]
Protein function Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, P
PDB 1RJ7 , 1RJ8 , 7X9G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00229 TNF 272 385 TNF(Tumour Necrosis Factor) family Domain
Tissue specificity 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 u
Sequence
MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCC
YLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGE
AALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKGKKAG
PPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPGPPGPPGPQGPPGLQGPSGAADK
AGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMNPKVFKLHPRSGELEVLVDGT
YFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAGVCLLKARQKI
AVKMVHADISINMSKHTTFFGAIRL
GEAPAS
Sequence length 391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
NF-kappa B signaling pathway
  TNFs bind their physiological receptors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Ectodermal dysplasia Ectodermal Dysplasia rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326
View all (42 more)
Hypertension Hypertensive disease rs13306026
Unknown
Disease term Disease name Evidence References Source
Tooth Agenesis tooth agenesis GenCC
Tooth Agenesis, X-Linked tooth agenesis, selective, X-linked, 1 GenCC
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Aneuploidy Associate 30067729
Anodontia Associate 18545687, 19623212, 22581971, 23227268, 23991204, 24312213, 24631698, 27049303, 30605838, 31652981, 31914153, 33205897, 33622384, 33943035, 38280992
View all (1 more)
Anodontia of Permanent Dentition Associate 20486090
Arthritis Psoriatic Stimulate 10733677
Blepharoptosis Associate 33933124
Brachydactyly type A1 Associate 37108325
Breast Neoplasms Associate 31323325
Carcinogenesis Associate 24631698
Cardiomyopathy Dilated Associate 8705761
Cerebral Infarction Stimulate 24578611