GGRNA Home | Help | Advanced search

2019-03-23 03:42:31, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001242310            3434 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant
            3, mRNA.
ACCESSION   NM_001242310
VERSION     NM_001242310.1  GI:334085254
KEYWORDS    RefSeq.
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 3434)
  AUTHORS   Redler,S., Brockschmidt,F.F., Tazi-Ahnini,R., Drichel,D.,
            Birch,M.P., Dobson,K., Giehl,K.A., Herms,S., Refke,M., Kluck,N.,
            Kruse,R., Lutz,G., Wolff,H., Bohm,M., Becker,T., Nothen,M.M.,
            Messenger,A.G. and Betz,R.C.
  TITLE     Investigation of the male pattern baldness major genetic
            susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
  JOURNAL   Br. J. Dermatol. 166 (6), 1314-1318 (2012)
   PUBMED   22309448
  REMARK    GeneRIF: The results suggest that EDA2R confers susceptibility to
            early onset female pattern hair loss
REFERENCE   2  (bases 1 to 3434)
  AUTHORS   Brockschmidt,F.F., Heilmann,S., Ellis,J.A., Eigelshoven,S.,
            Hanneken,S., Herold,C., Moebus,S., Alblas,M.A., Lippke,B.,
            Kluck,N., Priebe,L., Degenhardt,F.A., Jamra,R.A., Meesters,C.,
            Jockel,K.H., Erbel,R., Harrap,S., Schumacher,J., Frohlich,H.,
            Kruse,R., Hillmer,A.M., Becker,T. and Nothen,M.M.
  TITLE     Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new
            candidate gene for male-pattern baldness
  JOURNAL   Br. J. Dermatol. 165 (6), 1293-1302 (2011)
   PUBMED   22032556
REFERENCE   3  (bases 1 to 3434)
  AUTHORS   Ting,T.Y., Wong,R.W. and Rabie,A.B.
  TITLE     Analysis of genetic polymorphisms in skeletal Class I crowding
  JOURNAL   Am J Orthod Dentofacial Orthop 140 (1), E9-E15 (2011)
   PUBMED   21724072
  REMARK    GeneRIF: association in dental crowding in the Hong Kong Chinese
            population
REFERENCE   4  (bases 1 to 3434)
  AUTHORS   Tanikawa,C., Ri,C., Kumar,V., Nakamura,Y. and Matsuda,K.
  TITLE     Crosstalk of EDA-A2/XEDAR in the p53 signaling pathway
  JOURNAL   Mol. Cancer Res. 8 (6), 855-863 (2010)
   PUBMED   20501644
  REMARK    GeneRIF: A crucial role of the EDA-A2/ectodysplasin A2 (XEDAR)
            interaction is revealed in the p53-signaling pathway.
REFERENCE   5  (bases 1 to 3434)
  AUTHORS   Brockschmidt,F.F., Hillmer,A.M., Eigelshoven,S., Hanneken,S.,
            Heilmann,S., Barth,S., Herold,C., Becker,T., Kruse,R. and
            Nothen,M.M.
  TITLE     Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
  JOURNAL   Br. J. Dermatol. 162 (4), 899-903 (2010)
   PUBMED   20199557
  REMARK    GeneRIF: because no frequent variant other than rs1385699 has been
            reported in EDA2R in the European population, it is probable that
            the causative variant(s) modifies the expression of one or more
            flanking genes, i.e. AR and EDA2R
REFERENCE   6  (bases 1 to 3434)
  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   7  (bases 1 to 3434)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res. 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 3434)
  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 3434)
  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 3434)
  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 and AY152724.1.
            
            Summary: EDA-A1 and EDA-A2 are two isoforms of ectodysplasin that
            are encoded by the anhidrotic ectodermal dysplasia (EDA) gene.
            Mutations in EDA give rise to a clinical syndrome characterized by
            loss of hair, sweat glands, and teeth. The protein encoded by this
            gene specifically binds to EDA-A2 isoform. This protein is a type
            III transmembrane protein of the TNFR (tumor necrosis factor
            receptor) superfamily, and contains 3 cysteine-rich repeats and a
            single transmembrane domain but lacks an N-terminal signal peptide.
            Alternatively spliced transcript variants have been found for this
            gene.[provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (3) contains an alternate exon and
            uses an alternate splice site in the 3' coding region but maintains
            the reading frame compared to variant 1. The resulting protein
            (isoform 2) is longer compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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##
            CDS exon combination :: AY152724.1 [ECO:0000331]
            RNAseq introns       :: mixed/partial sample support ERS025083,
                                    ERS025084 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                AL353136.21        120274-120283       c
            11-778              AY152724.1         1-768
            779-779             AL353136.21        103925-103925       c
            780-967             AY152724.1         770-957
            968-977             AL353136.21        103727-103736       c
            978-3434            AL353136.21        99890-102346        c
FEATURES             Location/Qualifiers
     source          1..3434
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq12"
     gene            1..3434
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="ectodysplasin A2 receptor"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:17756"
                     /db_xref="MIM:300276"
     exon            1..97
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     CDS             11..967
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="isoform 2 is encoded by transcript variant 3;
                     X-linked ectodysplasin-A2 receptor; tumor necrosis factor
                     receptor superfamily member XEDAR; EDA-A2 receptor; tumor
                     necrosis factor receptor superfamily member 27"
                     /codon_start=1
                     /product="tumor necrosis factor receptor superfamily
                     member 27 isoform 2"
                     /protein_id="NP_001229239.1"
                     /db_xref="GI:334085255"
                     /db_xref="CCDS:CCDS56603.1"
                     /db_xref="GeneID:60401"
                     /db_xref="HGNC:17756"
                     /db_xref="MIM:300276"
                     /translation="
MDCQENEYWDQWGRCVTCQRCGPGQELSKDCGYGEGGDAYCTACPPRRYKSSWGHHRCQSCITCAVINRVQKVNCTATSNAVCGDCLPRFYRKTRIGGLQDQECIPCTKQTPTSEVQCAFQLSLVEADAPTVPPQEATLVALVSSLLVVFTLAFLGLFFLYCKQFFNRHCQREKLIIFSDPVPASLNLIPEFAGGLLQFEADKTAKEESLFPVPPSKETSAESQVSENIFQTQPLNPILEDDCSSTSGFPTQESFTMASCTSESHSHWVHSPIECTELDLQKFSSSASYTGAETLGGNTVESTGDRLELNVPFEVPSP
"
     misc_feature    17..334
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="Tumor necrosis factor receptor (TNFR) domain;
                     superfamily of TNF-like receptor domains. When bound to
                     TNF-like cytokines, TNFRs trigger multiple signal
                     transduction pathways, they are involved in inflammation
                     response, apoptosis, autoimmunity and...; Region: TNFR;
                     cd00185"
                     /db_xref="CDD:29147"
     misc_feature    order(17..22,155..157,185..187,215..217,284..286,320..322)
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="antiparallel homodimerization interface
                     [polypeptide binding]; other site"
                     /db_xref="CDD:29147"
     misc_feature    order(29..31,65..67,77..79,83..85,128..130,137..139,
                     167..169)
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="parallel homodimerization interface [polypeptide
                     binding]; other site"
                     /db_xref="CDD:29147"
     misc_feature    order(65..94,125..139,236..244)
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="protein binding site [polypeptide binding]; other
                     site"
                     /db_xref="CDD:29147"
     misc_feature    order(164..169,182..190)
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="50's loop TNF binding site; other site"
                     /db_xref="CDD:29147"
     misc_feature    order(284..286,320..334)
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /note="90's loop TNF binding site; other site"
                     /db_xref="CDD:29147"
     exon            98..276
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     STS             103..327
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /standard_name="EDA2R"
                     /db_xref="UniSTS:506602"
     exon            277..362
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     exon            363..527
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     variation       523
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61761340"
     exon            528..584
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     exon            585..977
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     variation       640
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:449504"
     variation       787
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372024"
     variation       811
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:430991"
     exon            978..3434
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /inference="alignment:Splign:1.39.8"
     variation       3177
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368049948"
     variation       3322
                     /gene="EDA2R"
                     /gene_synonym="EDA-A2R; EDAA2R; TNFRSF27; XEDAR"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1485682"
ORIGIN      
ccttcccaccatggattgccaagaaaatgagtactgggaccaatggggacggtgtgtcacctgccaacggtgtggtcctggacaggagctatccaaggattgtggttatggagagggtggagatgcctactgcacagcctgccctcctcgcaggtacaaaagcagctggggccaccacagatgtcagagttgcatcacctgtgctgtcatcaatcgtgttcagaaggtcaactgcacagctacctctaatgctgtctgtggggactgtttgcccaggttctaccgaaagacacgcattggaggcctgcaggaccaagagtgcatcccgtgcacgaagcagacccccacctctgaggttcaatgtgccttccagttgagcttagtggaggcagatgcacccacagtgccccctcaggaggccacacttgttgcactggtgagcagcctgctagtggtgtttaccctggccttcctggggctcttcttcctctactgcaagcagttcttcaacagacattgccagcgtgagaaattgattattttctctgatccagtaccagctagcctcaatctgatacctgaatttgcaggaggtttgctgcagtttgaggctgataaaacagcaaaggaggaatctctcttccccgtgccacccagcaaggagaccagtgctgagtcccaagtgagtgagaacatctttcagacccagccacttaaccctatcctcgaggacgactgcagctcgactagtggcttccccacacaggagtcctttaccatggcctcctgcacctcagagagccactcccactgggtccacagccccatcgaatgcacagagctggacctgcaaaagttttccagctctgcctcctatactggagctgagaccttggggggaaacacagtcgaaagcactggagacaggctggagctcaatgtgccctttgaagttcccagcccttaactctaatgaggtctcttgggcccctggcagccttgcccagttgttctctctggactctgttcctataccacaacagcagcaggggcctgaaatgtgatgtccacaagagctaataccctacagatggggcatatcctatcccatcccaccagaggattgattctccatttcacaaggactgatctggagcatttcttgcttcccttttgtagtctggggagccagattccacattcatgggactaccagacatgttcctagctcaacttgattatagagaagaggagagaggacagtgaatggggtagggttttcatgtctgcatttttggtcaggtaagcctctcaaaattgtgttggcacatctacctagcactttagggacaaaatcaaacccttctccccttttagctcctccacactgtctccctcctcaacacacacacacacacatacacacacatatacatagacacacaaacacacacacacacattaatatctatcttgggggaggcctcgtgccataattcccaagttcatgtctcagactgctgcattgcagcatgaggcagggcaaacactttccctctagatccctggggcctcaccctgtatttgaggttctcaccaccctcagcagggagaagggctgaagttcgccattttggaaccttacagaacatttctgagccaaagtaatcttccttctggggcctgagttccccaaactaccccacagcagtccctcaaagacagccctcaatccatgtagggacatctgagtatgcctctttctattgaaatgtcaattcaatcccagctttctcaccaccgttcccctttgattctttctcaattgtctttttgcctttagctcccacctatacatctcatgctcagagaaaaacaagttccttagaggttgtattctttattctccaagaatctgtctgaaacttgtacagctagttcctgtcccacaactattaagtggtttattaagtacattaggcagaatgtgcacttcatcaccaggttctagctctggcaaaggagtgctgtctacagcaagatttttgcttttagaattttattaactacatcttttgggttcatccatctacaaacactgattaagggcccctggggcaaccaattgatcagattactaaaaggacttgggaaaaagcaaaaaggtcccattgtactggactgaggattagaagcaattgaaatacaagcctgtaccaagcaagcagcctggccccacacaggtattagcaaatatgtggtaaccaaggttttaggccttggcctttaggtttcctgttttttttttgtttttgtttttgtttttgtttttctgcaacaggttattcttatctcactggctttcactgatcatgtttagaccttctggtagaagaaataatatccagacaggggatgatttggcttcagcaggctgcaggtgttcaaaggttgccatgtggctggcagtggttcaagcccacatttgacactgctgctctagaggaaagataatgatggtaacacagtaataataataataataacaaaaatatgataaagtgaaagagtaagacttcttcagtgtgcttgctcatggcatgaatgctatgtggacagcccaagccatacccagaatcaccttaattccaactttttgaggttcagcaattggaggtggcaattggctttgcattttaaagtatttcgggtaaaggtgaagtgaaggattttcgtctttataatttctgtttggccatggcaaataccatagttgagtatttgcttcaggagagttctttttacagttttacttttcaatgctgaggcatatttctttgagcactgtgcttttatgtgtctttctacaaaggggttattggtcagtggaagaacaaagtacacttgataaaaacattttcaacatacattgagcctaaacagcagttaagttgtctctaaatgaactagcaaaaaaaaaaaatgtagtttttgtttgtaaggaaggggaggtatttcctgagaatgaatttttttttttttggattactgtttttctctccatataccttgacttggattttgacaggagggagcctgggaaaataattttttcctccaagattctcagatccaggttaggaaaggattcagcactacagcatacccctctacaacatacagccctgtcacattgagatcataatccctcctgtcccactcctctctaccaaccccaccctactagctaggtcttcagtgttttacattgaatattggtacattttaattattttttctcataaatgggttatttatagaaattttgttaactcttgagccatatgcatgtgtagatactggcagggctatgtttgtttatgatgctctgcaaacatttcatattggccaataaacagaaatatatccaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:60401 -> Molecular function: GO:0004872 [receptor activity] evidence: IDA
            GeneID:60401 -> Molecular function: GO:0005031 [tumor necrosis factor-activated receptor activity] evidence: NAS
            GeneID:60401 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:60401 -> Biological process: GO:0008544 [epidermis development] evidence: NAS
            GeneID:60401 -> Biological process: GO:0009790 [embryo development] evidence: NAS
            GeneID:60401 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
            GeneID:60401 -> Biological process: GO:0033209 [tumor necrosis factor-mediated signaling pathway] evidence: NAS
            GeneID:60401 -> Biological process: GO:0046330 [positive regulation of JNK cascade] evidence: IDA
            GeneID:60401 -> Biological process: GO:0051092 [positive regulation of NF-kappaB transcription factor activity] evidence: IDA
            GeneID:60401 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: IEA
            GeneID:60401 -> Cellular component: GO:0016021 [integral to membrane] evidence: IC

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.