LOCUS       NM_022336               4062 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ectodysplasin A receptor (EDAR), mRNA.
ACCESSION   NM_022336
VERSION     NM_022336.4
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 4062)
  AUTHORS   Fang,Z., Wang,Y., Huang,B., Chen,X., Jiang,R. and Yin,M.
  TITLE     Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis
            via targeting EDAR-NF-kappaB signaling in keratinocyte
  JOURNAL   Cell Death Dis 14 (9), 627 (2023)
   PUBMED   37739945
  REMARK    GeneRIF: Depletion of G9A attenuates imiquimod-induced psoriatic
            dermatitis via targeting EDAR-NF-kappaB signaling in keratinocyte.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4062)
  AUTHORS   Yagi,S., Yasuno,S., Ansai,O., Hayashi,R. and Shimomura,Y.
  TITLE     Different degree of loss-of-function among four missense mutations
            in the EDAR gene responsible for autosomal recessive hypohidrotic
            ectodermal dysplasia may be associated with the phenotypic severity
  JOURNAL   J Dermatol 50 (3), 349-356 (2023)
   PUBMED   36258277
  REMARK    GeneRIF: Different degree of loss-of-function among four missense
            mutations in the EDAR gene responsible for autosomal recessive
            hypohidrotic ectodermal dysplasia may be associated with the
            phenotypic severity.
REFERENCE   3  (bases 1 to 4062)
  AUTHORS   Zhao,Z., Zhang,T., Li,T., Ye,Y., Feng,C., Wang,H. and Zhang,X.
  TITLE     A novel EDAR variant identified in non-syndromic tooth agenesis:
            Insights from molecular dynamics
  JOURNAL   Arch Oral Biol 146, 105600 (2023)
   PUBMED   36470092
  REMARK    GeneRIF: A novel EDAR variant identified in non-syndromic tooth
            agenesis: Insights from molecular dynamics.
REFERENCE   4  (bases 1 to 4062)
  AUTHORS   Williams,R., Jobling,S., Sims,A.H., Mou,C., Wilkinson,L.,
            Collu,G.M., Streuli,C.H., Gilmore,A.P., Headon,D.J. and Brennan,K.
  TITLE     Elevated EDAR signalling promotes mammary gland tumourigenesis with
            squamous metaplasia
  JOURNAL   Oncogene 41 (7), 1040-1049 (2022)
   PUBMED   34916592
  REMARK    GeneRIF: Elevated EDAR signalling promotes mammary gland
            tumourigenesis with squamous metaplasia.
REFERENCE   5  (bases 1 to 4062)
  AUTHORS   Coletta,D.K., Hlusko,L.J., Scott,G.R., Garcia,L.A., Vachon,C.M.,
            Norman,A.D., Funk,J.L., Shaibi,G.Q., Hernandez,V., De Filippis,E.
            and Mandarino,L.J.
  TITLE     Association of EDARV370A with breast density and metabolic syndrome
            in Latinos
  JOURNAL   PLoS One 16 (10), e0258212 (2021)
   PUBMED   34618839
  REMARK    GeneRIF: Association of EDARV370A with breast density and metabolic
            syndrome in Latinos.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4062)
  AUTHORS   Kumar,A., Eby,M.T., Sinha,S., Jasmin,A. and Chaudhary,P.M.
  TITLE     The ectodermal dysplasia receptor activates the nuclear
            factor-kappaB, JNK, and cell death pathways and binds to
            ectodysplasin A
  JOURNAL   J Biol Chem 276 (4), 2668-2677 (2001)
   PUBMED   11035039
REFERENCE   7  (bases 1 to 4062)
  AUTHORS   Monreal,A.W., Ferguson,B.M., Headon,D.J., Street,S.L.,
            Overbeek,P.A. and Zonana,J.
  TITLE     Mutations in the human homologue of mouse dl cause autosomal
            recessive and dominant hypohidrotic ectodermal dysplasia
  JOURNAL   Nat Genet 22 (4), 366-369 (1999)
   PUBMED   10431241
REFERENCE   8  (bases 1 to 4062)
  AUTHORS   Ho,L., Williams,M.S. and Spritz,R.A.
  TITLE     A gene for autosomal dominant hypohidrotic ectodermal dysplasia
            (EDA3) maps to chromosome 2q11-q13
  JOURNAL   Am J Hum Genet 62 (5), 1102-1106 (1998)
   PUBMED   9545409
REFERENCE   9  (bases 1 to 4062)
  AUTHORS   Aswegan,A.L., Josephson,K.D., Mowbray,R., Pauli,R.M., Spritz,R.A.
            and Williams,M.S.
  TITLE     Autosomal dominant hypohidrotic ectodermal dysplasia in a large
            family
  JOURNAL   Am J Med Genet 72 (4), 462-467 (1997)
   PUBMED   9375732
REFERENCE   10 (bases 1 to 4062)
  AUTHORS   Wright,J.T., Grange,D.K. and Fete,M.
  TITLE     Hypohidrotic Ectodermal Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301291
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092160.5, AF130988.1,
            AC133784.2, AC073415.6 and AI017384.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_022336.3.
            
            Summary: This gene encodes a member of the tumor necrosis factor
            receptor family. The encoded transmembrane protein is a receptor
            for the soluble ligand ectodysplasin A, and can activate the
            nuclear factor-kappaB, JNK, and caspase-independent cell death
            pathways. It is required for the development of hair, teeth, and
            other ectodermal derivatives. Mutations in this gene result in
            autosomal dominant and recessive forms of hypohidrotic ectodermal
            dysplasia. [provided by RefSeq, Jul 2008].
            
            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##
            Transcript exon combination :: AF130988.1, AK313781.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258443.7/ ENSP00000258443.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               AC092160.5         27026-27141         c
            117-1667            AF130988.1         270-1820
            1668-1983           AC133784.2         1-316               c
            1984-3224           AC073415.6         211428-212668       c
            3225-4060           AF130988.1         3378-4213
            4061-4062           AI017384.1         13-14               c
FEATURES             Location/Qualifiers
     source          1..4062
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q13"
     gene            1..4062
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /note="ectodysplasin A receptor"
                     /db_xref="GeneID:10913"
                     /db_xref="HGNC:HGNC:2895"
                     /db_xref="MIM:604095"
     exon            1..261
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            262..330
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             280..1626
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /note="downless, mouse, homolog of; ectodysplasin 1,
                     anhidrotic receptor; tumor necrosis factor receptor
                     superfamily member EDAR; EDA-A1 receptor; downless
                     homolog; ectodermal dysplasia receptor; anhidrotic
                     ectodysplasin receptor 1; hypohidrotic ectodermal
                     dysplasia; ectodysplasin A1 receptor"
                     /codon_start=1
                     /product="tumor necrosis factor receptor superfamily
                     member EDAR precursor"
                     /protein_id="NP_071731.1"
                     /db_xref="CCDS:CCDS2081.1"
                     /db_xref="GeneID:10913"
                     /db_xref="HGNC:HGNC:2895"
                     /db_xref="MIM:604095"
                     /translation="MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLC
                     QECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFSKGGYQICRRHKDCEGFFRATVL
                     TPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP
                     GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAP
                     ACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSEN
                     EQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYA
                     NVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMT
                     DGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS"
     exon            331..453
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..635
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            636..721
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            722..808
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            809..934
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1009
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1010..1082
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1242
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1243..1303
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..4062
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4044..4049
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /note="hexamer: AATAAA"
     polyA_site      4062
                     /gene="EDAR"
                     /gene_synonym="DL; ECTD10A; ECTD10B; ED1R; ED3; ED5;
                     EDA-A1R; EDA1R; EDA3; HRM1"
                     /note="major polyA site"
ORIGIN      
        1 aaacttgcag acagggcagg gagcggtcaa ggaagagttc ccgggaagcc ctttaaacgg
       61 aaaggaagcg gggctagtgt cagagaggtg tgccaggtcc caggcagccc tgctggcccc
      121 taaggacata gagtacctgc ttctgagagg gctgccacgg tggccacctg tgaagcctgt
      181 cacccagaac tggatggtac ctgactttct tcatagaccc atcttctgct gggactgaag
      241 ctgacctcca acagaagcca ggtgagccct tgggagagga tggcccatgt gggggactgc
      301 acgcagacgc cctggctccc cgtcctggtg gtgtctctga tgtgctcagc ccgagcggaa
      361 tactcaaact gcggtgagaa cgagtactac aaccagacta cggggctgtg ccaggagtgc
      421 cccccgtgtg ggccgggaga ggagccctac ctgtcctgtg gctacggcac caaagacgag
      481 gactacggct gcgtcccctg cccggcggag aagttttcca aaggaggcta ccagatatgc
      541 aggcgtcaca aagactgtga gggcttcttc cgggccaccg tgctgacacc aggggacatg
      601 gagaatgacg ctgagtgtgg cccttgcctc cctggctact acatgctgga gaacagaccg
      661 aggaacatct atggcatggt ctgctactcc tgcctcctgg caccccccaa caccaaggaa
      721 tgtgtgggag ccacttcagg agcttctgcc aacttccctg gcacctcggg cagcagcacc
      781 ctgtctccct tccagcacgc ccacaaagaa ctctcaggcc aaggacacct ggccactgcc
      841 ctgatcattg caatgtccac catcttcatc atggccatcg ccatcgtcct catcatcatg
      901 ttctacatcc tgaagacaaa gccctctgcc ccagcctgtt gcaccagcca cccggggaag
      961 agcgtggagg cccaagtgag caaggacgag gagaagaaag aggccccaga caacgtggtg
     1021 atgttctccg agaaggatga atttgagaag ctgacagcaa ctccagcaaa gcccaccaag
     1081 agcgagaacg atgcctcatc cgagaatgag cagctgctga gccggagcgt cgacagtgat
     1141 gaggagcccg cccctgacaa gcagggctcc ccggagctgt gcctgctgtc gctggttcac
     1201 ctggccaggg agaagtctgc caccagcaac aagtcagccg ggattcaaag ccggaggaaa
     1261 aagatcctcg atgtgtatgc caacgtgtgt ggagtcgtgg aaggtcttag ccccacggag
     1321 ctgccatttg attgcctcga gaagactagc cgaatgctca gctccacgta caactctgag
     1381 aaggctgttg tgaaaacgtg gcgccacctc gccgagagct tcggcctgaa gagggatgag
     1441 attgggggca tgacagacgg catgcaactc tttgaccgca tcagcacggc aggctacagc
     1501 atccctgagc tactcacaaa actggtgcag attgagcggc tggatgctgt ggagtccttg
     1561 tgtgcagaca tactggagtg ggcgggggtt gtgccacctg cctcccagcc acatgctgca
     1621 tcctgaaaag catgcctgtg ggctgtcctc ccaggacaag ccaaggagcc aacgagggct
     1681 ctggagctgt gagtggtgcc aaaagactgc caagaatcaa ggcttttgtg atatgtcacc
     1741 gtatgcctta ggatgttcaa ggagccagac gaaataaggc ctgtcttcca atttaaccaa
     1801 agataaagga ctagagccgg gatactttca gatgctcgcc tgtacctcac caggcagagt
     1861 aaatatctac tcactcatac agccagccca ccagcccacc attaactcac tgaacaatga
     1921 gacaatgttg aggactcaaa tgaatcaaac cccgtgggaa tgacagaagt gaagaatctg
     1981 gtccctgtct ttaaggagtt tgcactccag tagaagacag aaggaacgta tgtttacaaa
     2041 ccacttcact ggaagacgtc aaacaagctg aatgaagggg cgcttagaaa acgttaatag
     2101 aagttctaag cgggagatga ctccctactg ggatgatgaa ggatggcatc ctagtgaaga
     2161 agcagctcaa acattttgat aaaatggcaa caaaatgcag acaccctgct ccaggtatta
     2221 tttcaggttt agtacaagtc tgttaatacc ctatgtggtt tcattaggat aactttttac
     2281 ctatccttga ggtcatccat attcttacag gccttccagt caataatgga agagctcact
     2341 ctatacaaaa ccaatatgca aggcatgtgt ttgtccaagc aattggatgt gtgcagtagc
     2401 caatttcatt tactgcatta ctctttggcc tgggaaccct gtggtctgca ctacatgtga
     2461 atggccttcc acttcagtct taggcagatt tgacctttta ggggcagcaa tgctgaagga
     2521 cacagcaatt taaattataa tgtgtcaggc tgtgttttca cttcaaacat gtatgagtag
     2581 tcagctgtaa ttagagaaat gatgacttcc taagagttca gccacgcata attctagatt
     2641 tcaagagcat ctaagacttg tggattagcc tcatggcatg agagtttcag actcagcctt
     2701 ctgagccagt cagggaaagt ggagttctgc agcgcaaatg agagcctggg cttgatgtcg
     2761 agggagctgg cttctagttg tgccaccttg ggccttgtct tttcctctct ctgcctcagt
     2821 ttctcgtctg ccaatgagat gttagttagt gattctataa ttggggcagg tagggttcag
     2881 gtgagcaaaa agaaagtgga gctataggaa atgccaggcc tttgaggtgc tctatggaag
     2941 tcaacacagt gtggtttgtc catttaaatg ggaataaaaa cagaaaaact cagacttggc
     3001 attttcacaa taactgcaat ggtttgacat aacatttata ggcagaaagt taataaactg
     3061 gcattgttct tggcatatta ttgtactatc cctgtaactg ccaagagctc aggagccagg
     3121 ctagtgatca caccaggggt tagagttcac tgctgaactc cctgatggca ggtctgtgtt
     3181 tattactaca ttaaaacaaa gtctctgact tataaagcga ggttgtaaaa attacaagtt
     3241 gcatgactga aaaaatgctt tagggggaaa atcagtcata tctttaacac caacaagcaa
     3301 tttcccacca acgaatgtag tacatactgt gagaggatca taatgaggtc ctgaatattt
     3361 aatatcatca tttactgtgt ctgtttgctg ctgtttttcg aacctatttg gtttaccctg
     3421 caagctaaat actccacggc agagcttaat tatcctttta attcctcttt gaaatcctgt
     3481 ggtgccccct tccccctgcc ttgtgatgat gatgagtgag tctcccctta attagactgc
     3541 aaatgtcact tgtgatgagt gtgccattcc aggataacag cttgcaccct cctcagaatg
     3601 ttttcagcga aagagtgggg tggctgttct ctgctcctgg tgctttggcc tcatttcaca
     3661 ctattagaat tctggggctg taaggccagc cagtgtcagc tcatgttcca ttggctctcc
     3721 acctgccatt tttagggagc tattccttat atagttacaa attcccttgt catttactta
     3781 tttggaaaca tgggatttac tctgacaagc tttagcctat gttatgggat tcagaacaat
     3841 gagatcataa taattctcac tgaccaaagc tgggactcca tcctgccatt tttgtgtgga
     3901 gatattcata attctgcaat actttaaaac atttagaaaa caccccaggg taggtctgtg
     3961 gcccttagac agtgaagtct taattgtcaa tattattttt gtctaattct gtatatatat
     4021 aacttattat attttataat ctcaataaac acattaataa ga
//
