U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

EDA2R ectodysplasin A2 receptor [ Homo sapiens (human) ]

Gene ID: 60401, updated on 6-Jan-2023

Summary

Official Symbol
EDA2Rprovided by HGNC
Official Full Name
ectodysplasin A2 receptorprovided by HGNC
Primary source
HGNC:HGNC:17756
See related
Ensembl:ENSG00000131080 MIM:300276; AllianceGenome:HGNC:17756
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See EDA2R in Genome Data Viewer
Location:
Xq12
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (66595637..66639269, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (65023365..65067011, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (65815479..65859111, 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

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables tumor necrosis factor receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in membrane IC
Inferred by Curator
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
tumor necrosis factor receptor superfamily member 27
Names
EDA-A2 receptor
X-linked EDA receptor
X-linked ectodysplasin-A2 receptor
tumor necrosis factor receptor superfamily member XEDAR

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_013271.3 RefSeqGene

    Range
    5191..48632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199687.3NP_001186616.2  tumor necrosis factor receptor superfamily member 27 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL353136
    Consensus CDS
    CCDS14386.1
    UniProtKB/Swiss-Prot
    Q8IZA6
    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_001324199.2NP_001311128.2  tumor necrosis factor receptor superfamily member 27 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL353136
  4. NM_001324201.2NP_001311130.2  tumor necrosis factor receptor superfamily member 27 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL353136
  5. NM_001324202.2NP_001311131.2  tumor necrosis factor receptor superfamily member 27 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL353136
  6. NM_001324204.2NP_001311133.2  tumor necrosis factor receptor superfamily member 27 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL353136
  7. NM_001324205.2NP_001311134.2  tumor necrosis factor receptor superfamily member 27 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL353136
  8. NM_001324206.2NP_001311135.2  tumor necrosis factor receptor superfamily member 27 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL353136
    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)
  9. NM_021783.5NP_068555.2  tumor necrosis factor receptor superfamily member 27 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL353136
    Consensus CDS
    CCDS14386.1
    UniProtKB/Swiss-Prot
    Q8IZA6
    Related
    ENSP00000363851.3, ENST00000374719.8
    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_136726.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL353136
  2. NR_136727.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL353136

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    66595637..66639269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442328.1XP_047298284.1  tumor necrosis factor receptor superfamily member 27 isoform X31

  2. XM_047442327.1XP_047298283.1  tumor necrosis factor receptor superfamily member 27 isoform X30

  3. XM_047442323.1XP_047298279.1  tumor necrosis factor receptor superfamily member 27 isoform X26

  4. XM_047442321.1XP_047298277.1  tumor necrosis factor receptor superfamily member 27 isoform X24

  5. XM_047442319.1XP_047298275.1  tumor necrosis factor receptor superfamily member 27 isoform X22

  6. XM_047442317.1XP_047298273.1  tumor necrosis factor receptor superfamily member 27 isoform X20

  7. XM_047442324.1XP_047298280.1  tumor necrosis factor receptor superfamily member 27 isoform X27

  8. XM_047442312.1XP_047298268.1  tumor necrosis factor receptor superfamily member 27 isoform X16

  9. XM_047442310.1XP_047298266.1  tumor necrosis factor receptor superfamily member 27 isoform X15

  10. XM_047442315.1XP_047298271.1  tumor necrosis factor receptor superfamily member 27 isoform X18

  11. XM_047442305.1XP_047298261.1  tumor necrosis factor receptor superfamily member 27 isoform X10

  12. XM_047442303.1XP_047298259.1  tumor necrosis factor receptor superfamily member 27 isoform X9

  13. XM_047442301.1XP_047298257.1  tumor necrosis factor receptor superfamily member 27 isoform X7

  14. XM_047442318.1XP_047298274.1  tumor necrosis factor receptor superfamily member 27 isoform X21

  15. XM_047442307.1XP_047298263.1  tumor necrosis factor receptor superfamily member 27 isoform X12

  16. XM_047442306.1XP_047298262.1  tumor necrosis factor receptor superfamily member 27 isoform X11

  17. XM_047442309.1XP_047298265.1  tumor necrosis factor receptor superfamily member 27 isoform X14

  18. XM_047442302.1XP_047298258.1  tumor necrosis factor receptor superfamily member 27 isoform X8

  19. XM_047442300.1XP_047298256.1  tumor necrosis factor receptor superfamily member 27 isoform X6

  20. XM_017029708.2XP_016885197.1  tumor necrosis factor receptor superfamily member 27 isoform X32

  21. XM_047442326.1XP_047298282.1  tumor necrosis factor receptor superfamily member 27 isoform X29

  22. XM_011531006.3XP_011529308.1  tumor necrosis factor receptor superfamily member 27 isoform X27

    Conserved Domains (2) summary
    cd00185
    Location:4483
    TNFRSF; CRD2 [structural motif]
    cl22855
    Location:3118
    TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
  23. XM_047442313.1XP_047298269.1  tumor necrosis factor receptor superfamily member 27 isoform X16

  24. XM_047442311.1XP_047298267.1  tumor necrosis factor receptor superfamily member 27 isoform X15

  25. XM_017029706.2XP_016885195.1  tumor necrosis factor receptor superfamily member 27 isoform X18

  26. XM_017029704.2XP_016885193.1  tumor necrosis factor receptor superfamily member 27 isoform X10

  27. XM_047442304.1XP_047298260.1  tumor necrosis factor receptor superfamily member 27 isoform X9

  28. XM_011531002.2XP_011529304.1  tumor necrosis factor receptor superfamily member 27 isoform X7

    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)
  29. XM_047442322.1XP_047298278.1  tumor necrosis factor receptor superfamily member 27 isoform X25

  30. XM_047442320.1XP_047298276.1  tumor necrosis factor receptor superfamily member 27 isoform X23

  31. XM_047442308.1XP_047298264.1  tumor necrosis factor receptor superfamily member 27 isoform X13

  32. XM_047442299.1XP_047298255.1  tumor necrosis factor receptor superfamily member 27 isoform X5

  33. XM_011531001.2XP_011529303.1  tumor necrosis factor receptor superfamily member 27 isoform X2

    See identical proteins and their annotated locations for XP_011529303.1

    UniProtKB/Swiss-Prot
    Q9HAV5
    Related
    ENSP00000253392.5, ENST00000253392.5
    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)
  34. XM_047442298.1XP_047298254.1  tumor necrosis factor receptor superfamily member 27 isoform X4

  35. XM_047442297.1XP_047298253.1  tumor necrosis factor receptor superfamily member 27 isoform X3

  36. XM_047442294.1XP_047298250.1  tumor necrosis factor receptor superfamily member 27 isoform X1

  37. XM_047442316.1XP_047298272.1  tumor necrosis factor receptor superfamily member 27 isoform X19

  38. XM_017029705.2XP_016885194.1  tumor necrosis factor receptor superfamily member 27 isoform X13

  39. XM_047442296.1XP_047298252.1  tumor necrosis factor receptor superfamily member 27 isoform X2

  40. XM_047442295.1XP_047298251.1  tumor necrosis factor receptor superfamily member 27 isoform X1

  41. XM_047442314.1XP_047298270.1  tumor necrosis factor receptor superfamily member 27 isoform X17

  42. XM_047442325.1XP_047298281.1  tumor necrosis factor receptor superfamily member 27 isoform X28

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    65023365..65067011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.