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EDA2R ectodysplasin A2 receptor [ Homo sapiens (human) ]

Gene ID: 60401, updated on 3-Jun-2018
Official Symbol
EDA2Rprovided by HGNC
Official Full Name
ectodysplasin A2 receptorprovided by HGNC
Primary source
HGNC:HGNC:17756
See related
Ensembl:ENSG00000131080 MIM:300276; Vega:OTTHUMG00000021736
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
XEDAR; EDAA2R; EDA-A2R; TNFRSF27
Summary
The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]
Expression
Broad expression in thyroid (RPKM 3.4), ovary (RPKM 3.3) and 22 other tissues See more
Orthologs
See EDA2R in Genome Data Viewer
Location:
Xq12
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (66594384..66639303, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (65815479..65859140, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 165 pseudogene Neighboring gene pyruvate kinase M1/2 pseudogene 2 Neighboring gene RNA, U6 small nuclear 394, pseudogene Neighboring gene uncharacterized LOC105373240

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
tumor necrosis factor-activated receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ectodermal cell differentiation IC
Inferred by Curator
more info
PubMed 
epidermis development NAS
Non-traceable Author Statement
more info
PubMed 
intrinsic apoptotic signaling pathway by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JNK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IC
Inferred by Curator
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
tumor necrosis factor receptor superfamily member 27
Names
EDA-A2 receptor
X-linked ectodysplasin-A2 receptor
ectodysplasin A2 isoform receptor
tumor necrosis factor receptor superfamily member XEDAR

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_013271.2 RefSeqGene

    Range
    5173..48630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199687.2NP_001186616.1  tumor necrosis factor receptor superfamily member 27 isoform 1

    See identical proteins and their annotated locations for NP_001186616.1

    Status: REVIEWED

    Source sequence(s)
    AK314881, BC034919, DA215848
    Consensus CDS
    CCDS14386.1
    UniProtKB/Swiss-Prot
    Q9HAV5
    UniProtKB/TrEMBL
    B2RBZ9
    Related
    ENSP00000415242.3, ENST00000451436.6
    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
  2. NM_001242310.1NP_001229239.1  tumor necrosis factor receptor superfamily member 27 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL353136, AY152724
    Consensus CDS
    CCDS56603.1
    UniProtKB/Swiss-Prot
    Q9HAV5
    Related
    ENSP00000379365.2, ENST00000396050.5
    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
  3. NM_001324199.1NP_001311128.1  tumor necrosis factor receptor superfamily member 27 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK299018, AL353136, DA574050
    UniProtKB/TrEMBL
    B4DQY6
  4. NM_001324201.1NP_001311130.1  tumor necrosis factor receptor superfamily member 27 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL353136, AY358735
    UniProtKB/Swiss-Prot
    Q9HAV5
  5. NM_001324202.1NP_001311131.1  tumor necrosis factor receptor superfamily member 27 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK299018, AL353136
    UniProtKB/TrEMBL
    B4DQY6
  6. NM_001324204.1NP_001311133.1  tumor necrosis factor receptor superfamily member 27 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL353136, AY358735
    UniProtKB/Swiss-Prot
    Q9HAV5
  7. NM_001324205.1NP_001311134.1  tumor necrosis factor receptor superfamily member 27 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL353136, AY358735
    UniProtKB/Swiss-Prot
    Q9HAV5
  8. NM_001324206.1NP_001311135.1  tumor necrosis factor receptor superfamily member 27 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL353136, AY358735
    UniProtKB/Swiss-Prot
    Q9HAV5
  9. NM_021783.4NP_068555.1  tumor necrosis factor receptor superfamily member 27 isoform 1

    See identical proteins and their annotated locations for NP_068555.1

    Status: REVIEWED

    Source sequence(s)
    AL353136, BC034919
    Consensus CDS
    CCDS14386.1
    UniProtKB/Swiss-Prot
    Q9HAV5
    Related
    ENSP00000363851.3, OTTHUMP00000023448, ENST00000374719.7, OTTHUMT00000057002
    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)

RNA

  1. NR_136726.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK299018, AL353136
  2. NR_136727.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK296264, AL353136, BC034919

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    66594384..66639303 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531005.2XP_011529307.1  tumor necrosis factor receptor superfamily member 27 isoform X10

    See identical proteins and their annotated locations for XP_011529307.1

  2. XM_011531001.1XP_011529303.1  tumor necrosis factor receptor superfamily member 27 isoform X1

    See identical proteins and their annotated locations for XP_011529303.1

    UniProtKB/Swiss-Prot
    Q9HAV5
    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
  3. XM_017029708.1XP_016885197.1  tumor necrosis factor receptor superfamily member 27 isoform X13

  4. XM_017029707.1XP_016885196.1  tumor necrosis factor receptor superfamily member 27 isoform X8

  5. XM_017029705.1XP_016885194.1  tumor necrosis factor receptor superfamily member 27 isoform X6

  6. XM_011531003.2XP_011529305.1  tumor necrosis factor receptor superfamily member 27 isoform X4

    Conserved Domains (2) summary
    cd00185
    Location:4483
    TNFRSF; CRD2 [structural motif]
    cl22855
    Location:389
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  7. XM_017029703.1XP_016885192.1  tumor necrosis factor receptor superfamily member 27 isoform X2

  8. XM_011531006.2XP_011529308.1  tumor necrosis factor receptor superfamily member 27 isoform X11

    Conserved Domains (2) summary
    cd00185
    Location:4483
    TNFRSF; CRD2 [structural motif]
    cl22855
    Location:3118
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  9. XM_017029706.1XP_016885195.1  tumor necrosis factor receptor superfamily member 27 isoform X7

  10. XM_017029704.1XP_016885193.1  tumor necrosis factor receptor superfamily member 27 isoform X5

  11. XM_011531002.1XP_011529304.1  tumor necrosis factor receptor superfamily member 27 isoform X3

    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
  12. XM_011531000.1XP_011529302.1  tumor necrosis factor receptor superfamily member 27 isoform X1

    See identical proteins and their annotated locations for XP_011529302.1

    UniProtKB/Swiss-Prot
    Q9HAV5
    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
  13. XM_011531007.2XP_011529309.1  tumor necrosis factor receptor superfamily member 27 isoform X12

    Conserved Domains (2) summary
    cd00185
    Location:4483
    TNFRSF; CRD2 [structural motif]
    cl22855
    Location:3118
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  14. XM_011531004.1XP_011529306.1  tumor necrosis factor receptor superfamily member 27 isoform X9

    Conserved Domains (1) summary
    cd15838
    Location:3118
    TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)

RNA

  1. XR_938405.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001199688.1: Suppressed sequence

    Description
    NM_001199688.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001199689.1: Suppressed sequence

    Description
    NM_001199689.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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