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2024-04-16 13:48:24, 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 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
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