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EDA ectodysplasin A [ Homo sapiens (human) ]

Gene ID: 1896, updated on 23-Dec-2018

Summary

Official Symbol
EDAprovided by HGNC
Official Full Name
ectodysplasin Aprovided by HGNC
Primary source
HGNC:HGNC:3157
See related
Ensembl:ENSG00000158813 MIM:300451
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ED1; HED; EDA1; EDA2; HED1; ODT1; XHED; ECTD1; XLHED; ED1-A1; ED1-A2; EDA-A1; EDA-A2; TNLG7C; STHAGX1
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]
Expression
Broad expression in adrenal (RPKM 1.8), thyroid (RPKM 1.7) and 24 other tissues See more
Orthologs

Genomic context

See EDA in Genome Data Viewer
Location:
Xq13.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (69616067..70039472)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (68835911..69259322)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cytochrome c, somatic pseudogene 43 Neighboring gene family with sequence similarity 155 member B Neighboring gene RNA, 5S ribosomal pseudogene 506 Neighboring gene PRKX pseudogene 2 Neighboring gene CCR4-NOT transcription complex subunit 7 pseudogene 1 Neighboring gene microRNA 676 Neighboring gene acyl-CoA wax alcohol acyltransferase 2 Neighboring gene OTU deubiquitinase 6A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypohidrotic X-linked ectodermal dysplasia Compare labs
Tooth agenesis, selective, X-linked, 1
MedGen: C1970757 OMIM: 313500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-26)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
NHGRI GWA Catalog
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
    TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
  • TNFs bind their physiological receptors, organism-specific biosystem (from REACTOME)
    TNFs bind their physiological receptors, organism-specific biosystemMembers of the tumour necrosis factor superfamily (TNFSF) and TNF receptor superfamily (TNFRSF) have crucial roles in both innate and adaptive immunity. These members are implicated in various acquir...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
tumor necrosis factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell-matrix adhesion IEA
Inferred from Electronic Annotation
more info
 
gene expression IEA
Inferred from Electronic Annotation
more info
 
hair follicle placode formation IEA
Inferred from Electronic Annotation
more info
 
immune response IEA
Inferred from Electronic Annotation
more info
 
odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
pigmentation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
salivary gland cavitation IEA
Inferred from Electronic Annotation
more info
 
trachea gland development IEA
Inferred from Electronic Annotation
more info
 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
collagen trimer IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lipid droplet IDA
Inferred from Direct Assay
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ectodysplasin-A
Names
X-linked anhidroitic ectodermal dysplasia protein
oligodontia 1
tumor necrosis factor ligand 7C

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009809.2 RefSeqGene

    Range
    5001..428406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005609.1NP_001005609.1  ectodysplasin-A isoform 2

    See identical proteins and their annotated locations for NP_001005609.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (2, also known as EDA-A2) has the same N- and C-termini but is shorter than isoform 1.
    Source sequence(s)
    AF040628, AL158141, BC144051, BQ008767
    Consensus CDS
    CCDS43966.1
    UniProtKB/Swiss-Prot
    Q92838
    UniProtKB/TrEMBL
    A0A0U5J797
    Related
    ENSP00000363681.2, ENST00000374553.6
    Conserved Domains (1) summary
    cd00184
    Location:249381
    TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
  2. NM_001005610.3NP_001005610.2  ectodysplasin-A isoform 3

    See identical proteins and their annotated locations for NP_001005610.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (3, also known as EDA-O) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC144049, CA433299, FO393403, U59228
    Consensus CDS
    CCDS35318.2
    UniProtKB/Swiss-Prot
    Q92838
    Related
    ENSP00000434195.1, ENST00000525810.5
  3. NM_001005612.2NP_001005612.2  ectodysplasin-A isoform 5

    See identical proteins and their annotated locations for NP_001005612.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate in-frame splice sites compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter than isoform 1.
    Source sequence(s)
    AF061189, AL158141, BC144049, BU608133
    Consensus CDS
    CCDS35319.2
    UniProtKB/Swiss-Prot
    Q92838
    Related
    ENSP00000432585.1, ENST00000524573.5
    Conserved Domains (1) summary
    cd00184
    Location:249378
    TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
  4. NM_001005613.3NP_001005613.1  ectodysplasin-A isoform 6

    See identical proteins and their annotated locations for NP_001005613.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (6, also known as EDA-E) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AF061193, BC144049, CA433299, FO393403
    Consensus CDS
    CCDS55436.1
    UniProtKB/Swiss-Prot
    Q92838
    Related
    ENSP00000434861.1, ENST00000527388.5
  5. NM_001399.5NP_001390.1  ectodysplasin-A isoform 1

    See identical proteins and their annotated locations for NP_001390.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as EDA-A1).
    Source sequence(s)
    AF040628, AL158141, BC126143, BQ008767
    Consensus CDS
    CCDS14394.1
    UniProtKB/Swiss-Prot
    Q92838
    Related
    ENSP00000363680.4, ENST00000374552.8
    Conserved Domains (1) summary
    cl00147
    Location:249383
    TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    69616067..70039472
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029336.1XP_016884825.1  ectodysplasin-A isoform X2

    Conserved Domains (1) summary
    cl00147
    Location:249369
    TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
  2. XM_006724630.2XP_006724693.1  ectodysplasin-A isoform X1

    See identical proteins and their annotated locations for XP_006724693.1

    Conserved Domains (1) summary
    cd00184
    Location:249380
    TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
  3. XM_011530885.2XP_011529187.1  ectodysplasin-A isoform X3

    Conserved Domains (1) summary
    cl00147
    Location:249325
    TNF; Tumor Necrosis Factor; TNF superfamily members include the cytokines: TNF (TNF-alpha), LT (lymphotoxin-alpha, TNF-beta), CD40 ligand, Apo2L (TRAIL), Fas ligand, and osteoprotegerin (OPG) ligand. These proteins generally have an intracellular N-terminal ...
  4. XM_017029337.1XP_016884826.1  ectodysplasin-A isoform X4

RNA

  1. XR_001755660.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001005611.1: Suppressed sequence

    Description
    NM_001005611.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_001005614.1: Suppressed sequence

    Description
    NM_001005614.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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