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Gene Model: Edar

NomenclatureGenomic Location
SymbolEdarChromosome2
NameEctodysplasin-A receptor Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 90 Mbp

Molecular Function

Receptor for EDA isoform TAA, but not for EDA isoform TA-2. May mediate the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.

Molecular Function Terms:

receptor activity

Human Disease Association

Defects in EDAR are a cause of ectodermal dysplasia anhidrotic (EDA) [MIM:224900]; also known ectodermal dysplasia hypohidrotic autosomal recessive (HED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDA is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

Defects in EDAR are the cause of ectodermal dysplasia type 3 (ED3) [MIM:129490]; also known as ectodermal dysplasia hypohidrotic autosomal dominant or EDA3. ED3 is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

Polymorphism: Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIM:612630]. Besides skin color and facial features, hair morphology is one of the most distinctive traits among human populations, and classical classification of human population is based on such visible traits.

Predicted Transcript
     1 ATGGTGTGTCTGGGAGAATGCCGATGGCTTCACATGTTTCCATTCCTCATGGTATCACTT
    61 GTATATTCTGCTAATGCTGAATATTCTAACTGTGGTGAAAATGAGTACTACAACCAGACG
   121 ACCGGGATGTGCCATGAGTGTCCACAATGTGAGCCAGGAGAAGAACCATACATGACATGT
   181 GGATATGGGACTAAAGATGAAGACTACGGCTGTGTTCCTTGTCCATCGGAAAAGTTTTCT
   241 AAAGGAGGTTATCAGATATGCAGGAGGCACAAGGATTGCGAGGGCTTCTTCCGGGCAACT
   301 GTTATGACACCTGGAGATCAAGAGAATGATGCAGAATGTGGGCCTTGTCTCCCCGGTTAC
   361 TACATGTTAGAAAACCGGCCCCGGAATATCTATGGGATGGTTTGCTACTCATGCTCGCTG
   421 GCACCTCCAAACACCAAAGAATGTGCAGGTATTACTTCTGGTGCATCAGTCAGTTTCTCA
   481 AGTACTTCTGGAACAAGTACTCAATCTCCTTTCCGGCATATACACAAAGCAGATCTGACT
   541 GGACAAGGCCATCTTGCTACAGCTCTCATAATTGCTATGTCAACTATATTCATCATGGCT
   601 ATTGCTATCGTCCTGATCATCATGTTCTACATTGTCAAAACAAAAACATCAGCACAAGCA
   661 TGCTGCACCAGCCATCCTGTGAAGACTGTGGAAGCCCCAGCCATTATGCAGGAAGAAAAG
   721 AAAGAAGTACAAGAAAATGTAGTTATTTTCTCAGAGAAAGATGAGTTTGGAAAATTAACA
   781 GCAACTCCTGCAAAAGTGGTCAAGAGTGAAAATGATGCTTCCTCGGAGAATGAGAGACTT
   841 TTAAGTCGGAGCATGGACAGTGATGAAGAAGCTGCAATTGACAAACAAGGAACACCAGAT
   901 CTGTGCTTGTTATCTCTAGTCCATCTGGCTCGAGATAAATCTTCTACAAACAACAAATCT
   961 ACTGGTATACAAAGCCGGAGGAAAAAGATTCTTGATCTGTATGCTAATGTATGCAGTGTT
  1021 GCAGAAGGTCTCAGTCCCACAGAGCTGCCTTTTGATTGTCTGGAGAAGACCAGCAGGATG
  1081 CTCAGCTCTACATACAACACTGAAAAAGCTATTGTGAAGACTTGGCGTCACCTTGCTGAA
  1141 AGCTTTGGACTGAAGCGTGATGAAATTGGGGGCATGACAGATGGCATGCAGCTCTTTGAT
  1201 CGCATCAGCACAGCAGGCTACAGTATCCCAGAACTCTTAACAAAACTAGTGCAAATTGAG
  1261 CGGTTGGATGCTGTGGAGTCTCTCTGCGCAGATATTTTGGAGTGGGCACAAGTGATGCCC
  1321 AAACCTGAACCAGTGGTGGCTTCGTGA

Predicted Protein Product
MVCLGECRWLHMFPFLMVSLVYSANAEYSNCGENEYYNQTTGMCHECPQCEPGEEPYMTC
GYGTKDEDYGCVPCPSEKFSKGGYQICRRHKDCEGFFRATVMTPGDQENDAECGPCLPGY
YMLENRPRNIYGMVCYSCSLAPPNTKECAGITSGASVSFSSTSGTSTQSPFRHIHKADLT
GQGHLATALIIAMSTIFIMAIAIVLIIMFYIVKTKTSAQACCTSHPVKTVEAPAIMQEEK
KEVQENVVIFSEKDEFGKLTATPAKVVKSENDASSENERLLSRSMDSDEEAAIDKQGTPD
LCLLSLVHLARDKSSTNNKSTGIQSRRKKILDLYANVCSVAEGLSPTELPFDCLEKTSRM
LSSTYNTEKAIVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIE
RLDAVESLCADILEWAQVMPKPEPVVAS
Protein Alignment to Mouse
sp|Q9R187|EDAR_MOUSE Tumor necrosis factor receptor superfamily member EDAR
            OS=Mus musculus GN=Edar PE=1 SV=1
      MGI:1343498 Edar ectodysplasin-A receptor (Chr 10)
        Length = 448

 Score = 1745 (619.3 bits), Expect = 1.8e-180, P = 1.8e-180
 Identities = 328/448 (73%), Positives = 358/448 (79%)

Query:     1 MVCLGECRWLHMFPFLMVSLVYSANAEYSNCGENEYYNQTTGMCHECPQCEPGEEPYMTC 60
             M  +G+C+W+   P L+VSL+ SA AE SNCGENEY+NQTTG+C +CP C PGEEPYM+C
Sbjct:     1 MAHVGDCKWMSWLPVLVVSLMCSAKAEDSNCGENEYHNQTTGLCQQCPPCRPGEEPYMSC 60

Query:    61 GYGTKDEDYGCVPCPSEKFSKGGYQICRRHKDCEGFFRATVMTPGDQENDAECGPCLPGY 120
             GYGTKD+DYGCVPCP+EKFSKGGYQICRRHKDCEGFFRATV+TPGD ENDAECGPCLPGY
Sbjct:    61 GYGTKDDDYGCVPCPAEKFSKGGYQICRRHKDCEGFFRATVLTPGDMENDAECGPCLPGY 120

Query:   121 YMLENRPRNIYGMVCYSCSLAPPNTKECAXXXXXXXXXXXXXXXXXXXXPFRHIHKADLT 180
             YMLENRPRNIYGMVCYSC LAPPNTKEC                     PF+H HK +L+
Sbjct:   121 YMLENRPRNIYGMVCYSCLLAPPNTKECVGATSGVSAHSSSTSGGSTLSPFQHAHK-ELS 179

Query:   181 GQGHLATALIIAMSTXXXXXXXXXXXXXXYIVKTKTSAQACCTSHPVKTVEAPAIMXXXX 240
             GQGHLATALIIAMST              YI+KTK SA ACC+S P K+ EAPA      
Sbjct:   180 GQGHLATALIIAMSTIFIMAIAIVLIIMFYIMKTKPSAPACCSSPPGKSAEAPANTHEEK 239

Query:   241 XXXXXXXXIFSEKDEFGKLTATPAKVVKSENDASSENERLLSRSMDSDEEAAIDKQGTPD 300
                      F E  EF KLTATP K  KSENDASSENE+LLSRS+DSDEE A DKQG+P+
Sbjct:   240 KEAPDSVVTFPENGEFQKLTATPTKTPKSENDASSENEQLLSRSVDSDEEPAPDKQGSPE 299

Query:   301 LCLLSLVHLARDKSSTNNKSTGIQSRRKKILDLYANVCSVAEGLSPTELPFDCLEKTSRM 360
             LCLLSLVHLAR+KS T+NKS GIQSRRKKILD+YANVC V EGLSPTELPFDCLEKTSRM
Sbjct:   300 LCLLSLVHLAREKSVTSNKSAGIQSRRKKILDVYANVCGVVEGLSPTELPFDCLEKTSRM 359

Query:   361 LSSTYNTEKAIVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIE 420
             LSSTYN+EKA+VKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIE
Sbjct:   360 LSSTYNSEKAVVKTWRHLAESFGLKRDEIGGMTDGMQLFDRISTAGYSIPELLTKLVQIE 419

Query:   421 RLDAVESLCADILEWAQVMPKPEPVVAS 448
             RLDAVESLCADILEWA V+P   P  A+
Sbjct:   420 RLDAVESLCADILEWAGVVPPASPPPAA 447