Details for: EDAR
Associated with
Other Information
Genular Protein ID: 1018481794
Symbol: EDAR_HUMAN
Name: Tumor necrosis factor receptor superfamily member EDAR
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10431241
Title: Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
PubMed ID: 10431241
DOI: 10.1038/11937
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15340161
Title: Signal peptide prediction based on analysis of experimentally verified cleavage sites.
PubMed ID: 15340161
DOI: 10.1110/ps.04682504
PubMed ID: 11039935
Title: Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.
PubMed ID: 11039935
PubMed ID: 11035039
Title: The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.
PubMed ID: 11035039
PubMed ID: 15373768
Title: A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.
PubMed ID: 15373768
PubMed ID: 16029325
Title: Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
PubMed ID: 16029325
PubMed ID: 16435307
Title: Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
PubMed ID: 16435307
DOI: 10.1002/humu.20295
PubMed ID: 18231121
Title: Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
PubMed ID: 18231121
PubMed ID: 18065779
Title: A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.
PubMed ID: 18065779
DOI: 10.1093/hmg/ddm355
PubMed ID: 18561327
Title: Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form.
PubMed ID: 18561327
DOI: 10.1002/humu.20795
PubMed ID: 19438931
Title: Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.
PubMed ID: 19438931
PubMed ID: 20979233
Title: Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
PubMed ID: 20979233
DOI: 10.1002/humu.21384
PubMed ID: 27657131
Title: Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in seven hypohidrotic ectodermal dysplasia patients.
PubMed ID: 27657131
DOI: 10.3390/genes7090065
Sequence Information:
- Length: 448
- Mass: 48582
- Checksum: AC8D61249D608439
- Sequence:
MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC GPGEEPYLSC GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT VLTPGDMEND AECGPCLPGY YMLENRPRNI YGMVCYSCLL APPNTKECVG ATSGASANFP GTSGSSTLSP FQHAHKELSG QGHLATALII AMSTIFIMAI AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK EAPDNVVMFS EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF DCLEKTSRML SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR ISTAGYSIPE LLTKLVQIER LDAVESLCAD ILEWAGVVPP ASQPHAAS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.