LOCUS       NM_021783               3455 bp    mRNA    linear   PRI 24-DEC-2024
DEFINITION  Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant
            2, mRNA.
ACCESSION   NM_021783 XM_001715146
VERSION     NM_021783.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3455)
  AUTHORS   Kelam,J., Kelam,N., Filipovic,N., Komic,L., Racetin,A., Komic,D.,
            Kostic,S., Kuzmic Prusac,I. and Vukojevic,K.
  TITLE     Expression of Congenital Anomalies of the Kidney and Urinary Tract
            (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in Normal Human
            Kidney Development and CAKUT
  JOURNAL   Genes (Basel) 15 (6), 702 (2024)
   PUBMED   38927638
  REMARK    GeneRIF: Expression of Congenital Anomalies of the Kidney and
            Urinary Tract (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in
            Normal Human Kidney Development and CAKUT.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3455)
  AUTHORS   von Renesse,J. and Mirtschink,P.
  TITLE     Ectodysplasin A2 receptor-NF-kappaB-inducing kinase axis: a new
            player in muscle wasting to cancer cachexia
  JOURNAL   Signal Transduct Target Ther 8 (1), 383 (2023)
   PUBMED   37807033
  REMARK    GeneRIF: Ectodysplasin A2 receptor-NF-kappaB-inducing kinase axis:
            a new player in muscle wasting to cancer cachexia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3455)
  AUTHORS   Bilgic,S.N., Domaniku,A., Toledo,B., Agca,S., Weber,B.Z.C.,
            Arabaci,D.H., Ozornek,Z., Lause,P., Thissen,J.P., Loumaye,A. and
            Kir,S.
  TITLE     EDA2R-NIK signalling promotes muscle atrophy linked to cancer
            cachexia
  JOURNAL   Nature 617 (7962), 827-834 (2023)
   PUBMED   37165186
  REMARK    GeneRIF: EDA2R-NIK signalling promotes muscle atrophy linked to
            cancer cachexia.
REFERENCE   4  (bases 1 to 3455)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3455)
  AUTHORS   Kwack,M.H., Jun,M.S., Sung,Y.K., Kim,J.C. and Kim,M.K.
  TITLE     Ectodysplasin-A2 induces dickkopf 1 expression in human balding
            dermal papilla cells overexpressing the ectodysplasin A2 receptor
  JOURNAL   Biochem Biophys Res Commun 529 (3), 766-772 (2020)
   PUBMED   32736705
  REMARK    GeneRIF: Ectodysplasin-A2 induces dickkopf 1 expression in human
            balding dermal papilla cells overexpressing the ectodysplasin A2
            receptor.
REFERENCE   6  (bases 1 to 3455)
  AUTHORS   Hashimoto,T., Cui,C.Y. and Schlessinger,D.
  TITLE     Repertoire of mouse ectodysplasin-A (EDA-A) isoforms
  JOURNAL   Gene 371 (1), 42-51 (2006)
   PUBMED   16423472
  REMARK    GeneRIF: isoforms of EDA-A5 and A5',activated NF-kappaB through
            receptors EDAR and XEDAR
REFERENCE   7  (bases 1 to 3455)
  AUTHORS   Sinha,S.K. and Chaudhary,P.M.
  TITLE     Induction of apoptosis by X-linked ectodermal dysplasia receptor
            via a caspase 8-dependent mechanism
  JOURNAL   J Biol Chem 279 (40), 41873-41881 (2004)
   PUBMED   15280356
  REMARK    GeneRIF: XEDAR belongs to a novel class of death receptors that
            lack a discernible death domain but are capable of activating
            apoptosis in a caspase 8- and FADD-dependent fashion
REFERENCE   8  (bases 1 to 3455)
  AUTHORS   Sinha,S.K., Zachariah,S., Quinones,H.I., Shindo,M. and
            Chaudhary,P.M.
  TITLE     Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK
            pathways by X-linked ectodermal dysplasia receptor
  JOURNAL   J Biol Chem 277 (47), 44953-44961 (2002)
   PUBMED   12270937
  REMARK    GeneRIF: Results establish a major role of TRAF3 and -6 in X-linked
            ectodermal dysplasia receptor (XEDAR) signaling and in the process
            of ectodermal differentiation.
REFERENCE   9  (bases 1 to 3455)
  AUTHORS   Naito,A., Yoshida,H., Nishioka,E., Satoh,M., Azuma,S., Yamamoto,T.,
            Nishikawa,S. and Inoue,J.
  TITLE     TRAF6-deficient mice display hypohidrotic ectodermal dysplasia
  JOURNAL   Proc Natl Acad Sci U S A 99 (13), 8766-8771 (2002)
   PUBMED   12060722
REFERENCE   10 (bases 1 to 3455)
  AUTHORS   Yan,M., Wang,L.C., Hymowitz,S.G., Schilbach,S., Lee,J., Goddard,A.,
            de Vos,A.M., Gao,W.Q. and Dixit,V.M.
  TITLE     Two-amino acid molecular switch in an epithelial morphogen that
            regulates binding to two distinct receptors
  JOURNAL   Science 290 (5491), 523-527 (2000)
   PUBMED   11039935
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353136.21.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021783.4.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034919.1, SRR1803615.239908.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374719.8/ ENSP00000363851.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-84                AL353136.21        143248-143331       c
            85-181              AL353136.21        120187-120283       c
            182-360             AL353136.21        109301-109479       c
            361-446             AL353136.21        108674-108759       c
            447-611             AL353136.21        106886-107050       c
            612-998             AL353136.21        103727-104113       c
            999-3455            AL353136.21        99890-102346        c
FEATURES             Location/Qualifiers
     source          1..3455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq12"
     gene            1..3455
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="ectodysplasin A2 receptor"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:HGNC:17756"
                     /db_xref="MIM:300276"
     exon            1..84
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     exon            85..181
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..988
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="isoform 1 is encoded by transcript variant 2;
                     X-linked ectodysplasin-A2 receptor; tumor necrosis factor
                     receptor superfamily member XEDAR; EDA-A2 receptor; tumor
                     necrosis factor receptor superfamily member 27; X-linked
                     EDA receptor"
                     /codon_start=1
                     /product="tumor necrosis factor receptor superfamily
                     member 27 isoform 1"
                     /protein_id="NP_068555.2"
                     /db_xref="CCDS:CCDS14386.1"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:HGNC:17756"
                     /db_xref="MIM:300276"
                     /translation="MDCQENEYWDQWGRCVTCQRCGPGQELSKDCGYGEGGDAYCTAC
                     PPRRYKSSWGHHRCQSCITCAVINRVQKVNCTATSNAVCGDCLPRFYRKTRIGGLQDQ
                     ECIPCTKQTPTSEVQCAFQLSLVEADTPTVPPQEATLVALVSSLLVVFTLAFLGLFFL
                     YCKQFFNRHCQRGGLLQFEADKTAKEESLFPVPPSKETSAESQVSENIFQTQPLNPIL
                     EDDCSSTSGFPTQESFTMASCTSESHSHWVHSPIECTELDLQKFSSSASYTGAETLGG
                     NTVESTGDRLELNVPFEVPSP"
     exon            182..360
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     exon            361..446
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     exon            447..611
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     exon            612..998
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     exon            999..3455
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3432..3437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="hexamer: AATAAA"
     polyA_site      3455
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="major polyA site"
ORIGIN      
        1 gggtgagatg tgtgctctgc gctgaggtgg atttgtaccg gagtcccatt tgggagcaag
       61 agccatctac tcgtccgtta ccggccttcc caccatggat tgccaagaaa atgagtactg
      121 ggaccaatgg ggacggtgtg tcacctgcca acggtgtggt cctggacagg agctatccaa
      181 ggattgtggt tatggagagg gtggagatgc ctactgcaca gcctgccctc ctcgcaggta
      241 caaaagcagc tggggccacc acagatgtca gagttgcatc acctgtgctg tcatcaatcg
      301 tgttcagaag gtcaactgca cagctacctc taatgctgtc tgtggggact gtttgcccag
      361 gttctaccga aagacacgca ttggaggcct gcaggaccaa gagtgcatcc cgtgcacgaa
      421 gcagaccccc acctctgagg ttcaatgtgc cttccagttg agcttagtgg aggcagatac
      481 acccacagtg ccccctcagg aggccacact tgttgcactg gtgagcagcc tgctagtggt
      541 gtttaccctg gccttcctgg ggctcttctt cctctactgc aagcagttct tcaacagaca
      601 ttgccagcgt ggaggtttgc tgcagtttga ggctgataaa acagcaaagg aggaatctct
      661 cttccccgtg ccacccagca aggagaccag tgctgagtcc caagtgagtg agaacatctt
      721 tcagacccag ccacttaacc ctatcctcga ggacgactgc agctcgacta gtggcttccc
      781 cacacaggag tcctttacca tggcctcctg cacctcagag agccactccc actgggtcca
      841 cagccccatc gaatgcacag agctggacct gcaaaagttt tccagctctg cctcctatac
      901 tggagctgag accttggggg gaaacacagt cgaaagcact ggagacaggc tggagctcaa
      961 tgtgcccttt gaagttccca gcccttaact ctaatgaggt ctcttgggcc cctggcagcc
     1021 ttgcccagtt gttctctctg gactctgttc ctataccaca acagcagcag gggcctgaaa
     1081 tgtgatgtcc acaagagcta ataccctaca gatggggcat atcctatccc atcccaccag
     1141 aggattgatt ctccatttca caaggactga tctggagcat ttcttgcttc ccttttgtag
     1201 tctggggagc cagattccac attcatggga ctaccagaca tgttcctagc tcaacttgat
     1261 tatagagaag aggagagagg acagtgaatg gggtagggtt ttcatgtctg catttttggt
     1321 caggtaagcc tctcaaaatt gtgttggcac atctacctag cactttaggg acaaaatcaa
     1381 acccttctcc ccttttagct cctccacact gtctccctcc tcaacacaca cacacacaca
     1441 tacacacaca tatacataga cacacaaaca cacacacaca cattaatatc tatcttgggg
     1501 gaggcctcgt gccataattc ccaagttcat gtctcagact gctgcattgc agcatgaggc
     1561 agggcaaaca ctttccctct agatccctgg ggcctcaccc tgtatttgag gttctcacca
     1621 ccctcagcag ggagaagggc tgaagttcgc cattttggaa ccttacagaa catttctgag
     1681 ccaaagtaat cttccttctg gggcctgagt tccccaaact accccacagc agtccctcaa
     1741 agacagccct caatccatgt agggacatct gagtatgcct ctttctattg aaatgtcaat
     1801 tcaatcccag ctttctcacc accgttcccc tttgattctt tctcaattgt ctttttgcct
     1861 ttagctccca cctatacatc tcatgctcag agaaaaacaa gttccttaga ggttgtattc
     1921 tttattctcc aagaatctgt ctgaaacttg tacagctagt tcctgtccca caactattaa
     1981 gtggtttatt aagtacatta ggcagaatgt gcacttcatc accaggttct agctctggca
     2041 aaggagtgct gtctacagca agatttttgc ttttagaatt ttattaacta catcttttgg
     2101 gttcatccat ctacaaacac tgattaaggg cccctggggc aaccaattga tcagattact
     2161 aaaaggactt gggaaaaagc aaaaaggtcc cattgtactg gactgaggat tagaagcaat
     2221 tgaaatacaa gcctgtacca agcaagcagc ctggccccac acaggtatta gcaaatatgt
     2281 ggtaaccaag gttttaggcc ttggccttta ggtttcctgt tttttttttg tttttgtttt
     2341 tgtttttgtt tttctgcaac aggttattct tatctcactg gctttcactg atcatgttta
     2401 gaccttctgg tagaagaaat aatatccaga caggggatga tttggcttca gcaggctgca
     2461 ggtgttcaaa ggttgccatg tggctggcag tggttcaagc ccacatttga cactgctgct
     2521 ctagaggaaa gataatgatg gtaacacagt aataataata ataataacaa aaatatgata
     2581 aagtgaaaga gtaagacttc ttcagtgtgc ttgctcatgg catgaatgct atgtggacag
     2641 cccaagccat acccagaatc accttaattc caactttttg aggttcagca attggaggtg
     2701 gcaattggct ttgcatttta aagtatttcg ggtaaaggtg aagtgaagga ttttcgtctt
     2761 tataatttct gtttggccat ggcaaatacc atagttgagt atttgcttca ggagagttct
     2821 ttttacagtt ttacttttca atgctgaggc atatttcttt gagcactgtg cttttatgtg
     2881 tctttctaca aaggggttat tggtcagtgg aagaacaaag tacacttgat aaaaacattt
     2941 tcaacataca ttgagcctaa acagcagtta agttgtctct aaatgaacta gcaaaaaaaa
     3001 aaaatgtagt ttttgtttgt aaggaagggg aggtatttcc tgagaatgaa tttttttttt
     3061 tttggattac tgtttttctc tccatatacc ttgacttgga ttttgacagg agggagcctg
     3121 ggaaaataat tttttcctcc aagattctca gatccaggtt aggaaaggat tcagcactac
     3181 agcatacccc tctacaacat acagccctgt cacattgaga tcataatccc tcctgtccca
     3241 ctcctctcta ccaaccccac cctactagct aggtcttcag tgttttacat tgaatattgg
     3301 tacattttaa ttattttttc tcataaatgg gttatttata gaaattttgt taactcttga
     3361 gccatatgca tgtgtagata ctggcagggc tatgtttgtt tatgatgctc tgcaaacatt
     3421 tcatattggc caataaacag aaatatatcc aaaaa
//
