LOCUS AF130988 4235 bp mRNA linear HUM 18-AUG-1999 DEFINITION Homo sapiens ectodysplasin-A receptor protein (EDAR) mRNA, complete cds. ACCESSION AF130988 VERSION AF130988.1 KEYWORDS . 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 4235) 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 2 (bases 1 to 4235) AUTHORS Monreal,A.W., Ferguson,B.M., Headon,D.J., Street,S., Overbeek,P.A. and Zonana,J. TITLE Direct Submission JOURNAL Submitted (24-FEB-1999) Molecular and Medical Genetics, Oregon Health Sciences University, 3181 S.W. Sam Jackson Park Rd. L103, Portland, OR 97201, USA FEATURES Location/Qualifiers source 1..4235 /db_xref="H-InvDB:HIT000070733" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q11-q13" /note="77d fetal skin; 20-25 week fetal heart" gene 1..4235 /gene="EDAR" 5'UTR 1..432 /gene="EDAR" CDS 433..1779 /gene="EDAR" /note="TNF receptor homolog" /codon_start=1 /product="ectodysplasin-A receptor protein" /protein_id="AAD50076.1" /translation="MAHVGDCTQTPWLPVLVVSLMCSARAEYSNCGENEYYNQTTGLC QECPPCGPGEEPYLSCGYGTKDEDYGCVPCPAEKFSKGGYQICRRHKDCEGFFRATVL TPGDMENDAECGPCLPGYYMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGASANFP GTSGSSTLSPFQHAHKELSGQGHLATALIIAMSTIFIMAIAIVLIIMFYILKTKPSAP ACCTSHPGKSVEAQVSKDEEKKEAPDNVVMFSEKDEFEKLTATPAKPTKSENDASSEN EQLLSRSVDSDEEPAPDKQGSPELCLLSLVHLAREKSATSNKSAGIQSRRKKILDVYA NVCGVVEGLSPTELPFDCLEKTSRMLSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMT DGMQLFDRISTAGYSIPELLTKLVQIERLDAVESLCADILEWAGVVPPASQPHAAS" variation 1182 /gene="EDAR" /note="polymorphism" /replace="t" variation 1488 /gene="EDAR" /note="polymorphism" /replace="t" 3'UTR 1780..4235 /gene="EDAR" repeat_region 2134..2180 /gene="EDAR" /rpt_family="LINE/L2" /rpt_type=dispersed repeat_region 2927..2983 /gene="EDAR" /rpt_family="SINE/MIR" /rpt_type=dispersed regulatory 3126..3131 /regulatory_class="polyA_signal_sequence" /gene="EDAR" /note="alternative" regulatory 3205..3210 /regulatory_class="polyA_signal_sequence" /gene="EDAR" /note="alternative" regulatory 3343..3348 /regulatory_class="polyA_signal_sequence" /gene="EDAR" /note="alternative" regulatory 4197..4202 /regulatory_class="polyA_signal_sequence" /gene="EDAR" /note="alternative" BASE COUNT 1125 a 1021 c 1061 g 1028 t ORIGIN 1 gggggcagac ggccgaagag ccaggtgtgc cagggaccta tggcagcagg gctgaacgtg 61 cccgctccag cctctccagt gctgggagag acctctagat ggtgcaggtg agtttgcaat 121 gagggaaagc ccctcggcaa ggactgagtt tccaaacttg cagacagggc agggagcggt 181 caaggaagag ttcccgggaa gccctttaaa cggaaaggaa gcggggctag tgtcagagag 241 gtgtgccagg tcccaggcag ccctgctgac ccctaaggac atagagtacc tgcttctgag 301 agggctgcca cggtggccac ctgtgaagcc tgtcacccag aactggatgg tacctgactt 361 tcttcataga cccatcttct gctgggactg aagctgacct ccaacagaag ccaggtgagc 421 ccttgggaga ggatggccca tgtgggggac tgcacgcaga cgccctggct ccccgtcctg 481 gtggtgtctc tgatgtgctc agcccgagcg gaatactcaa actgcggtga gaacgagtac 541 tacaaccaga ctacggggct gtgccaggag tgccccccgt gtgggccggg agaggagccc 601 tacctgtcct gtggctacgg caccaaagac gaggactacg gctgcgtccc ctgcccggcg 661 gagaagtttt ccaaaggagg ctaccagata tgcaggcgtc acaaagactg tgagggcttc 721 ttccgggcca ccgtgctgac accaggggac atggagaatg acgctgagtg tggcccttgc 781 ctccctggct actacatgct ggagaacaga ccgaggaaca tctatggcat ggtctgctac 841 tcctgcctcc tggcaccccc caacaccaag gaatgtgtgg gagccacttc aggagcttct 901 gccaacttcc ctggcacctc gggcagcagc accctgtctc ccttccagca cgcccacaaa 961 gaactctcag gccaaggaca cctggccact gccctgatca ttgcaatgtc caccatcttc 1021 atcatggcca tcgccatcgt cctcatcatc atgttctaca tcctgaagac aaagccctct 1081 gccccagcct gttgcaccag ccacccgggg aagagcgtgg aggcccaagt gagcaaggac 1141 gaggagaaga aagaggcccc agacaacgtg gtgatgttct ccgagaagga tgaatttgag 1201 aagctgacag caactccagc aaagcccacc aagagcgaga acgatgcctc atccgagaat 1261 gagcagctgc tgagccggag cgtcgacagt gatgaggagc ccgcccctga caagcagggc 1321 tccccggagc tgtgcctgct gtcgctggtt cacctggcca gggagaagtc tgccaccagc 1381 aacaagtcag ccgggattca aagccggagg aaaaagatcc tcgatgtgta tgccaacgtg 1441 tgtggagtcg tggaaggtct tagccccacg gagctgccat ttgattgcct cgagaagact 1501 agccgaatgc tcagctccac gtacaactct gagaaggctg ttgtgaaaac gtggcgccac 1561 ctcgccgaga gcttcggcct gaagagggat gagattgggg gcatgacaga cggcatgcaa 1621 ctctttgacc gcatcagcac ggcaggctac agcatccctg agctactcac aaaactggtg 1681 cagattgagc ggctggatgc tgtggagtcc ttgtgtgcag acatactgga gtgggcgggg 1741 gttgtgccac ctgcctccca gccacatgct gcatcctgaa aagcatgcct gtgggctgtc 1801 ctcccaggac aagccaagga tccaacgagg gctctggagc tgtgagtggt gccaaaagac 1861 tgccaagaat caaggctttt gtgatatgtc accgtatgcc ttaggatgtt caaggagcca 1921 gacgaaataa ggcctgtctt ccaatttaac caaagataaa ggactagagc cgggatactt 1981 tcagatgctc gcctgtacct caccaggcag agtaaatatc tactcactca tacagccagc 2041 ccaccagccc accattaact cactgaacaa tgagacaatg ttgaggactc aaatgaatca 2101 aaccccgtgg gaatgacaga agtgaagaat ctggtccctg tctttaagga gtttgcactc 2161 cagtagaaga cagaaggaac gtatgtttac aaaccacttc actggaagac gtcaaacaag 2221 ctgaatgaag gggcgcttag aaaacgttaa tagaagttct aagcgggaga tgactcccta 2281 ctgggatgat gaaggatggc atcctagtga agaagcagct caaacatttt gataaaatgg 2341 caacaaaatg cagacaccct gctccaggta ttatttcagg tttagtacaa gtctgttaat 2401 accctatgtg gtttcattag gataactttt tacctatcct tgaggtcatc catattctta 2461 caggccttcc agtcaataat ggaagagctc actctataca aaaccaatat gcaaggcatg 2521 tgtttgtcca agcaattgga tgtgtgcagt agccaatttc atttactgca ttactctttg 2581 gcctgggaac cctgtggtct gcactacatg tgaatggcct tccacttcag tcttaggcag 2641 atttgacctt ttaggggcag caatgctgaa ggacacagca atttaaatta taatgtgtca 2701 ggctgtgttt tcacttcaaa catgtatgag tagtcagctg taattagaga aatgatgact 2761 tcctaagagt tcagccacgc ataattctag atttcaagag catctaagac ttgtggatta 2821 gcctcatggc atgagagttt cagactcagc cttctgagcc agtcagggaa agtggagttc 2881 tgcagcgcaa atgagagcct gggcttggtg tcgagggagc tggcttctag ttgtgccacc 2941 ttgggccttg tcttttcctc tctctgcctc agtttctcgt ctgccaatga gatgttagtt 3001 agtgattcta taattggggc aggtagggtt caggtgagca aaaagaaagt ggagctatag 3061 gaaatgccag gcctttgagg tgctctatgg aagtcaacac agtgtggttt gtccatttaa 3121 atgggaataa aaacagaaaa actcagactt ggcattttca caataactgc aatggtttga 3181 cataacattt ataggcagaa agttaataaa ctggcattgt tcttggcata ttattgtact 3241 atccctgtaa ctgccaagag ctcaggagcc aggctagtga tcacaccagg ggttagagtt 3301 cactgctgaa ctccctgatg gcaggtctgt gtttattact acattaaaac aaagtctctg 3361 acttataaag cgaggtcgta aaaattacaa gttgcatgac tgaaaaaatg ctttaggggg 3421 aaaatcagtc atatctttaa caccaacaag caatttccca ccaacgaatg tagtacatac 3481 tgtgagagga tcataatgag gtcctgaata tttaatatca tcatttactg tgtctgtttg 3541 ctgctgtttt tcgaacctat ttggtttacc ctgcaagcta aatactccac ggcagagctt 3601 aattatcctt ttaattcctc tttgaaatcc tgtggtgccc ccttccccct gccttgtgat 3661 gatgatgagt gagtctcccc ttaattagac tgcaaatgtc acttgtgatg agtgtgccat 3721 tccaggataa cagcttgcac cctcctcaga atgttttcag cgaaagagtg gggtggctgt 3781 tctctgctcc tggtgctttg gcctcatttc acactattag aattctgggg ctgtaaggcc 3841 agccagtgtc agctcatgtt ccattggctc tccacctgcc atttttaggg agctattcct 3901 tatatagtta caaattccct tgtcatttac ttatttggaa acatgggatt tactctgaca 3961 agctttagcc tatgttatgg gattcagaac aatgagatca taataattct cactgaccaa 4021 agctgggact ccatcctgcc atttttgtgt ggagatattc ataattctgc aatactttaa 4081 aacatttaga aaacacccca gggtaggtct gtggccctta gacagtgaag tcttaattgt 4141 caatattatt tttgtctaat tctgtatata tataacttat tatattttat aatctcaata 4201 aacacattaa taaaaaaaaa aaaaaaaaaa aaaaa //