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    EDA2R ectodysplasin A2 receptor [ Homo sapiens (human) ]

    Gene ID: 60401, updated on 2-May-2024

    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
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    Try the new Transcript table

    Genomic context

    Location:
    Xq12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (66595637..66639269, complement)
    RS_2023_10 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 H3K4me1 hESC enhancer GRCh37_chrX:65709355-65709854 Neighboring gene pyruvate kinase M1/2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29722 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:65855165-65856364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29724 Neighboring gene RNA, U6 small nuclear 394, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:65937581-65938780 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

    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
     
    enables transmembrane 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
     
    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
      Q5VYX9, Q5VYY0, Q6UWM2, Q8IZA6, 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/TrEMBL
      B2RBZ9
      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
      UniProtKB/TrEMBL
      B4DQY6
    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
      UniProtKB/TrEMBL
      B2RBZ9
      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
      Q5VYX9, Q5VYY0, Q6UWM2, Q8IZA6, Q9HAV5
      UniProtKB/TrEMBL
      B2RBZ9
      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: GCF_000001405.40-RS_2023_10

    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

      UniProtKB/TrEMBL
      B4DJW5
      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/TrEMBL
      B2RBZ9
      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)

    mRNA and Protein(s)

    1. XM_054327517.1XP_054183492.1  tumor necrosis factor receptor superfamily member 27 isoform X31

    2. XM_054327516.1XP_054183491.1  tumor necrosis factor receptor superfamily member 27 isoform X30

    3. XM_054327511.1XP_054183486.1  tumor necrosis factor receptor superfamily member 27 isoform X26

    4. XM_054327509.1XP_054183484.1  tumor necrosis factor receptor superfamily member 27 isoform X24

    5. XM_054327507.1XP_054183482.1  tumor necrosis factor receptor superfamily member 27 isoform X22

    6. XM_054327505.1XP_054183480.1  tumor necrosis factor receptor superfamily member 27 isoform X20

    7. XM_054327512.1XP_054183487.1  tumor necrosis factor receptor superfamily member 27 isoform X27

    8. XM_054327499.1XP_054183474.1  tumor necrosis factor receptor superfamily member 27 isoform X16

    9. XM_054327497.1XP_054183472.1  tumor necrosis factor receptor superfamily member 27 isoform X15

    10. XM_054327502.1XP_054183477.1  tumor necrosis factor receptor superfamily member 27 isoform X18

    11. XM_054327490.1XP_054183465.1  tumor necrosis factor receptor superfamily member 27 isoform X10

    12. XM_054327488.1XP_054183463.1  tumor necrosis factor receptor superfamily member 27 isoform X9

    13. XM_054327486.1XP_054183461.1  tumor necrosis factor receptor superfamily member 27 isoform X7

    14. XM_054327506.1XP_054183481.1  tumor necrosis factor receptor superfamily member 27 isoform X21

    15. XM_054327493.1XP_054183468.1  tumor necrosis factor receptor superfamily member 27 isoform X12

    16. XM_054327492.1XP_054183467.1  tumor necrosis factor receptor superfamily member 27 isoform X11

    17. XM_054327496.1XP_054183471.1  tumor necrosis factor receptor superfamily member 27 isoform X14

    18. XM_054327487.1XP_054183462.1  tumor necrosis factor receptor superfamily member 27 isoform X8

    19. XM_054327484.1XP_054183459.1  tumor necrosis factor receptor superfamily member 27 isoform X6

    20. XM_054327518.1XP_054183493.1  tumor necrosis factor receptor superfamily member 27 isoform X32

    21. XM_054327515.1XP_054183490.1  tumor necrosis factor receptor superfamily member 27 isoform X29

    22. XM_054327513.1XP_054183488.1  tumor necrosis factor receptor superfamily member 27 isoform X27

    23. XM_054327500.1XP_054183475.1  tumor necrosis factor receptor superfamily member 27 isoform X16

    24. XM_054327498.1XP_054183473.1  tumor necrosis factor receptor superfamily member 27 isoform X15

    25. XM_054327503.1XP_054183478.1  tumor necrosis factor receptor superfamily member 27 isoform X18

    26. XM_054327491.1XP_054183466.1  tumor necrosis factor receptor superfamily member 27 isoform X10

    27. XM_054327489.1XP_054183464.1  tumor necrosis factor receptor superfamily member 27 isoform X9

    28. XM_054327485.1XP_054183460.1  tumor necrosis factor receptor superfamily member 27 isoform X7

    29. XM_054327510.1XP_054183485.1  tumor necrosis factor receptor superfamily member 27 isoform X25

    30. XM_054327508.1XP_054183483.1  tumor necrosis factor receptor superfamily member 27 isoform X23

    31. XM_054327494.1XP_054183469.1  tumor necrosis factor receptor superfamily member 27 isoform X13

    32. XM_054327483.1XP_054183458.1  tumor necrosis factor receptor superfamily member 27 isoform X5

    33. XM_054327480.1XP_054183455.1  tumor necrosis factor receptor superfamily member 27 isoform X2

    34. XM_054327482.1XP_054183457.1  tumor necrosis factor receptor superfamily member 27 isoform X4

    35. XM_054327481.1XP_054183456.1  tumor necrosis factor receptor superfamily member 27 isoform X3

    36. XM_054327477.1XP_054183452.1  tumor necrosis factor receptor superfamily member 27 isoform X1

    37. XM_054327504.1XP_054183479.1  tumor necrosis factor receptor superfamily member 27 isoform X19

    38. XM_054327495.1XP_054183470.1  tumor necrosis factor receptor superfamily member 27 isoform X13

    39. XM_054327479.1XP_054183454.1  tumor necrosis factor receptor superfamily member 27 isoform X2

    40. XM_054327478.1XP_054183453.1  tumor necrosis factor receptor superfamily member 27 isoform X1

    41. XM_054327501.1XP_054183476.1  tumor necrosis factor receptor superfamily member 27 isoform X17

    42. XM_054327514.1XP_054183489.1  tumor necrosis factor receptor superfamily member 27 isoform X28

    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.