EDARADD (EDAR associated via death domain) - Rat Genome Database

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Gene: EDARADD (EDAR associated via death domain) Homo sapiens
Analyze
Symbol: EDARADD
Name: EDAR associated via death domain
RGD ID: 1351297
HGNC Page HGNC:14341
Description: Predicted to enable magnesium ion binding activity and phosphopyruvate hydratase activity. Predicted to be involved in cell differentiation; glycolytic process; and signal transduction. Predicted to act upstream of or within hair follicle development; odontogenesis of dentin-containing tooth; and trachea gland development. Predicted to be located in cytosol. Predicted to be part of phosphopyruvate hydratase complex. Implicated in ectodermal dysplasia 11A and ectodermal dysplasia 11B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CR; crinkled homolog; ECTD11A; ECTD11B; ectodysplasia A receptor associated death domain; ectodysplasin A receptor associated adapter protein; ectodysplasin-A receptor-associated adapter protein; ED3; EDA3; EDAR associated death domain; EDAR-associated death domain; EDAR-associated death domain protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,348,259 - 236,484,930 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,348,257 - 236,502,915 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,511,559 - 236,648,230 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361234,624,303 - 234,714,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341232,883,720 - 232,974,049NCBI
Celera1209,804,771 - 209,895,082 (+)NCBICelera
Cytogenetic Map1q42.3-q43NCBI
HuRef1207,012,849 - 207,103,467 (+)NCBIHuRef
CHM1_11237,829,988 - 237,920,874 (+)NCBICHM1_1
T2T-CHM13v2.01235,750,587 - 235,884,698 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
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Reference
Notes
Source
Original Reference(s)
EDARADDHumanhypohidrotic ectodermal dysplasia  ISOEdaradd (Rattus norvegicus)14398762DNA:missense mutation:exon:p.Pro153Ser(rat)RGD 
EDARADDHumanotitis media  ISOEdaradd (Rattus norvegicus)14398763 RGD 
1 to 20 of 38 rows
Object Symbol
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Original Reference(s)
EDARADDHumanChediak-Higashi syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Chédiak-Higashi syndromeClinVarPMID:11857544 more ...
EDARADDHumanectodermal dysplasia  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia and RecessiveClinVarPMID:25741868
EDARADDHumanectodermal dysplasia  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia and RecessiveClinVarPMID:25741868 and PMID:28492532
EDARADDHumanectodermal dysplasia  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia and RecessiveClinVar 
EDARADDHumanectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia and RecessiveClinVarPMID:28492532
EDARADDHumanectodermal dysplasia 10A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 10A more ...ClinVarPMID:11780064 more ...
EDARADDHumanectodermal dysplasia 10A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 10A more ...ClinVarPMID:20222921
EDARADDHumanectodermal dysplasia 10A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 10A more ...ClinVarPMID:17354266
EDARADDHumanectodermal dysplasia 10B  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Ectodermal dysplasia 10B more ...ClinVarPMID:25741868
EDARADDHumanectodermal dysplasia 10B  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 10B more ...ClinVar 
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:25741868 and PMID:28492532
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:25741868
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:28492532
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:11780064 more ...
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:11780064 and PMID:28492532
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:28492532 and PMID:34573371
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:26440664 more ...
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:28492532 and PMID:33502802
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:20222921 more ...
EDARADDHumanectodermal dysplasia 11A  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ectodermal dysplasia 11A more ...ClinVarPMID:11780064 more ...
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Original Reference(s)
EDARADDHumanectodermal dysplasia 10A  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
EDARADDHumanectodermal dysplasia 10B  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
Object Symbol
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Original Reference(s)
EDARADDHumanectodermal dysplasia 11A  IAGP 7240710 OMIM 
EDARADDHumanectodermal dysplasia 11B  IAGP 7240710 OMIM 

1 to 20 of 42 rows

  
Object Symbol
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Original Reference(s)
EDARADDHuman1,2-dimethylhydrazine multiple interactionsISOEdaradd (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of EDARADD mRNACTDPMID:22206623
EDARADDHuman17beta-estradiol multiple interactionsISOEdaradd (Rattus norvegicus)6480464[bisphenol A co-treated with Estradiol] results in decreased expression of EDARADD mRNACTDPMID:26496021
EDARADDHuman3-isobutyl-1-methyl-7H-xanthine multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of EDARADD mRNACTDPMID:28628672
EDARADDHuman4,4'-sulfonyldiphenol increases methylationISOEdaradd (Mus musculus)6480464bisphenol S results in increased methylation of EDARADD exonCTDPMID:33297965
EDARADDHuman6-propyl-2-thiouracil multiple interactionsISOEdaradd (Mus musculus)6480464[Propylthiouracil co-treated with Iodine deficiency] results in increased expression of EDARADD mRNACTDPMID:36706583
EDARADDHumanaldehydo-D-glucose multiple interactionsISOEdaradd (Mus musculus)6480464[lard co-treated with Cholesterol and Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose] results in increased expression of EDARADD mRNACTDPMID:37567420
EDARADDHumanAzaspiracid increases expressionEXP 6480464azaspiracid results in increased expression of EDARADD mRNACTDPMID:28939011
EDARADDHumanbenzo[a]pyrene decreases expressionISOEdaradd (Mus musculus)6480464Benzo(a)pyrene results in decreased expression of EDARADD mRNACTDPMID:22228805
EDARADDHumanbenzo[a]pyrene affects methylationEXP 6480464Benzo(a)pyrene affects the methylation of EDARADD promoterCTDPMID:27901495
EDARADDHumanbis(2-ethylhexyl) phthalate multiple interactionsISOEdaradd (Mus musculus)6480464Diethylhexyl Phthalate inhibits the reaction [[Streptozocin co-treated with Dietary Fats] results in decreased expression of EDARADD mRNA]CTDPMID:33484791
EDARADDHumanbisphenol A multiple interactionsISOEdaradd (Rattus norvegicus)6480464[bisphenol A co-treated with Estradiol] results in decreased expression of EDARADD mRNACTDPMID:26496021
EDARADDHumanbisphenol A decreases expressionISOEdaradd (Mus musculus)6480464bisphenol A results in decreased expression of EDARADD mRNACTDPMID:38074096
EDARADDHumanbisphenol A decreases expressionISOEdaradd (Rattus norvegicus)6480464bisphenol A results in decreased expression of EDARADD mRNACTDPMID:25181051 and PMID:26982218
EDARADDHumanbisphenol F multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of EDARADD mRNACTDPMID:28628672
EDARADDHumanbortezomib increases expressionEXP 6480464Bortezomib results in increased expression of EDARADD mRNACTDPMID:17895889
EDARADDHumanbuta-1,3-diene decreases expressionISOEdaradd (Mus musculus)64804641 and 3-butadiene results in decreased expression of EDARADD mRNACTDPMID:29038090
EDARADDHumancorosolic acid decreases expressionEXP 6480464corosolic acid results in decreased expression of EDARADD mRNACTDPMID:37939859
EDARADDHumancurcumin multiple interactionsEXP 6480464Curcumin inhibits the reaction [Oxygen deficiency results in increased expression of EDARADD mRNA]CTDPMID:23452621
EDARADDHumanD-glucose multiple interactionsISOEdaradd (Mus musculus)6480464[lard co-treated with Cholesterol and Dietary co-treated with Dietary Sucrose co-treated with Fructose co-treated with Glucose] results in increased expression of EDARADD mRNACTDPMID:37567420
EDARADDHumandexamethasone multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of EDARADD mRNACTDPMID:28628672

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Biological Process
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Cellular Component

  
Object Symbol
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Original Reference(s)
EDARADDHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
EDARADDHumancytoplasm located_inIEAUniProtKB-SubCell:SL-0086150520179 UniProtGO_REF:0000044
EDARADDHumancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-5675656
EDARADDHumanphosphopyruvate hydratase complex part_ofIEAInterPro:IPR000941150520179 InterProGO_REF:0000002

Molecular Function

  
Object Symbol
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Original Reference(s)
EDARADDHumanlyase activity enablesIEAUniProtKB-KW:KW-0456150520179 UniProtGO_REF:0000043
EDARADDHumanmagnesium ion binding enablesIEAInterPro:IPR000941150520179 InterProGO_REF:0000002
EDARADDHumanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
EDARADDHumanphosphopyruvate hydratase activity enablesIEAEC:4.2.1.11150520179 UniProtGO_REF:0000003
EDARADDHumanphosphopyruvate hydratase activity enablesIEAInterPro:IPR000941150520179 InterProGO_REF:0000002
EDARADDHumanprotein binding enablesIPIUniProtKB:G2XKQ0 more ...150520179 PMID:25416956IntActPMID:25416956
EDARADDHumanprotein binding enablesIPIUniProtKB:Q96HA8150520179 PMID:31515488IntActPMID:31515488

1 to 20 of 116 rows
Object Symbol
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Qualifier
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Source
Original Reference(s)
EDARADDHumanAbnormal dental morphology  IAGP 8699517 HPOORPHA:99798
EDARADDHumanAbnormal dental morphology  IAGP 8699517 HPOORPHA:248
EDARADDHumanAbnormal dental morphology  IAGP 8699517 HPOORPHA:1810
EDARADDHumanAbnormal fingernail morphology  IAGP 8699517 HPOORPHA:248
EDARADDHumanAbnormal fingernail morphology  IAGP 8699517 HPOORPHA:1810
EDARADDHumanAbnormal hair morphology  IAGP 8699517 HPOORPHA:248
EDARADDHumanAbnormal primary molar morphology  IAGP 8699517 HPOORPHA:99798
EDARADDHumanAbnormal toenail morphology  IAGP 8699517 HPOORPHA:248
EDARADDHumanAbnormality of canine  IAGP 8699517 HPOORPHA:99798
EDARADDHumanAbnormality of skin pigmentation  IAGP 8699517 HPOORPHA:1810
EDARADDHumanAbnormality of the dentition  IAGP 8699517 HPOORPHA:1810
EDARADDHumanAbsent eyebrow  IAGP 8699517 HPOMIM:614941 and PMID:26991760
EDARADDHumanAbsent eyelashes  IAGP 8699517 HPOMIM:614941 and PMID:26991760
EDARADDHumanAbsent hair  IAGP 8699517 HPOMIM:614940
EDARADDHumanAbsent nipple  IAGP 8699517 HPOMIM:614940
EDARADDHumanAbsent nipple  IAGP 8699517 HPOMIM:614941
EDARADDHumanAgenesis of central incisor  IAGP 8699517 HPOORPHA:99798
EDARADDHumanAgenesis of first permanent molar tooth  IAGP 8699517 HPOORPHA:99798
EDARADDHumanAgenesis of mandibular premolar  IAGP 8699517 HPOORPHA:99798
EDARADDHumanAgenesis of maxillary lateral incisor  IAGP 8699517 HPOORPHA:99798
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Object Symbol
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Original Reference(s)
EDARADDHumanGastrointestinal stroma tumor  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:28492532
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868 and PMID:28492532
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:28492532
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868 and PMID:28492532
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:28492532
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:28492532
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:20222921 more ...
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVarPMID:25741868
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
EDARADDHumanHypohidrotic ectodermal dysplasia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasiaClinVar 
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Reference Title
Reference Citation
1. Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia. Del-Pozo J, etal., Dis Model Mech. 2019 Apr 25;12(4). pii: 12/4/dmm037804. doi: 10.1242/dmm.037804.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. Kuramoto T, etal., BMC Genet. 2011 Oct 21;12:91. doi: 10.1186/1471-2156-12-91.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
PMID:9245989   PMID:11035039   PMID:11780064   PMID:11882293   PMID:11997580   PMID:12477932   PMID:14702039   PMID:16251197   PMID:16710414   PMID:17354266   PMID:20222921   PMID:20301291  
PMID:20979233   PMID:21626677   PMID:21873635   PMID:22924441   PMID:22984994   PMID:25416956   PMID:26440664   PMID:30022538   PMID:30809309   PMID:31515488   PMID:31796081   PMID:32188493  
PMID:32819890   PMID:34219261   PMID:34573371   PMID:35563538   PMID:35637063   PMID:35906200   PMID:37673591   PMID:37838280  



EDARADD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,348,259 - 236,484,930 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,348,257 - 236,502,915 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,511,559 - 236,648,230 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361234,624,303 - 234,714,631 (+)NCBINCBI36Build 36hg18NCBI36
Build 341232,883,720 - 232,974,049NCBI
Celera1209,804,771 - 209,895,082 (+)NCBICelera
Cytogenetic Map1q42.3-q43NCBI
HuRef1207,012,849 - 207,103,467 (+)NCBIHuRef
CHM1_11237,829,988 - 237,920,874 (+)NCBICHM1_1
T2T-CHM13v2.01235,750,587 - 235,884,698 (+)NCBIT2T-CHM13v2.0
Edaradd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391312,486,090 - 12,535,413 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1312,487,513 - 12,535,319 (-)EnsemblGRCm39 Ensembl
GRCm381312,471,209 - 12,520,535 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1312,472,632 - 12,520,438 (-)EnsemblGRCm38mm10GRCm38
MGSCv371312,569,175 - 12,612,715 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361312,531,162 - 12,574,879 (-)NCBIMGSCv36mm8
Celera1312,393,096 - 12,436,757 (-)NCBICelera
Cytogenetic Map13A1NCBI
cM Map134.77NCBI
Edaradd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81792,850,791 - 92,894,808 (-)NCBIGRCr8
mRatBN7.21785,866,629 - 85,910,612 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1785,656,905 - 85,910,447 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01790,802,280 - 90,843,476 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1790,802,393 - 90,843,485 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01792,462,305 - 92,503,399 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41767,056,373 - 67,143,933 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1785,700,726 - 85,744,668 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Edaradd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554923,711,549 - 3,777,528 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554923,709,819 - 3,777,506 (-)NCBIChiLan1.0ChiLan1.0
EDARADD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,702,380 - 12,787,405 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,914,211 - 12,999,256 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01211,973,108 - 212,043,142 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11217,042,359 - 217,043,804 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1216,960,418 - 217,044,046 (+)NCBIpanpan1.1panPan2
PanPan1.1 Ensembl1216,960,418 - 217,044,046 (+)Ensemblpanpan1.1panPan2
EDARADD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.143,608,545 - 3,659,357 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl43,610,079 - 3,669,789 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha43,654,946 - 3,715,144 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.043,629,190 - 3,689,391 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl43,629,181 - 3,690,451 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.143,641,762 - 3,701,937 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.043,758,964 - 3,819,177 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.043,979,463 - 4,039,647 (-)NCBIUU_Cfam_GSD_1.0
Edaradd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934440,226,404 - 40,281,250 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648416,395,935 - 16,446,146 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648416,394,753 - 16,446,102 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDARADD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1454,925,771 - 54,990,848 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11454,924,156 - 54,992,206 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21458,899,859 - 58,965,928 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EDARADD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12573,537,185 - 73,625,338 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2573,538,944 - 73,626,038 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605575,628,044 - 75,715,344 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Edaradd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477514,132,710 - 14,191,423 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477514,132,455 - 14,191,604 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in EDARADD
161 total Variants

1 to 10 of 255 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001729334]|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV004798715]|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000004407] Chr1:236482455 [GRCh38]
Chr1:236645755 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|not provided
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg) single nucleotide variant Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000055985]|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000004408] Chr1:236482366 [GRCh38]
Chr1:236645666 [GRCh37]
Chr1:1q43		 pathogenic|not provided
NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) single nucleotide variant Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000549383] Chr1:236482418 [GRCh38]
Chr1:236645718 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del) deletion Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001729373] Chr1:236482403..236482408 [GRCh38]
Chr1:236645703..236645708 [GRCh37]
Chr1:1q43		 pathogenic|not provided
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
1 to 10 of 255 rows

Predicted Target Of
Summary Value
Count of predictions:973
Count of miRNA genes:627
Interacting mature miRNAs:711
Transcripts:ENST00000334232, ENST00000359362, ENST00000439430
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 19 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597420605GWAS1516679_Haging QTL GWAS1516679 (human)2e-15aging1236362147236362148Human
597488027GWAS1584101_HCleft palate, cleft lip QTL GWAS1584101 (human)0.000004Cleft palate, cleft lip1236480251236480252Human
597278672GWAS1374746_Hhypothyroidism QTL GWAS1374746 (human)1e-11hypothyroidism1236465834236465835Human
597251028GWAS1347102_Hpulse pressure measurement QTL GWAS1347102 (human)0.000008pulse pressure measurementpulse pressure (CMO:0000292)1236457113236457114Human
597060216GWAS1156290_Hhypothyroidism QTL GWAS1156290 (human)4e-09hypothyroidism1236465834236465835Human
597253225GWAS1349299_Hinsomnia, total blood protein measurement QTL GWAS1349299 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236422478236422479Human
597253003GWAS1349077_Hinsomnia, total blood protein measurement QTL GWAS1349077 (human)1e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236406546236406547Human
597253227GWAS1349301_Hinsomnia, total blood protein measurement QTL GWAS1349301 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236424832236424833Human
597253226GWAS1349300_Hinsomnia, total blood protein measurement QTL GWAS1349300 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236424606236424607Human
597253005GWAS1349079_Hinsomnia, total blood protein measurement QTL GWAS1349079 (human)2e-08insomnia, total blood protein measurementblood protein measurement (CMO:0000028)1236415227236415228Human

1 to 10 of 19 rows
D1S2850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,630,670 - 236,630,816UniSTSGRCh37
Build 361234,697,293 - 234,697,439RGDNCBI36
Celera1209,877,753 - 209,877,899RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,085,995 - 207,086,141UniSTS
Marshfield Genetic Map1256.26RGD
Marshfield Genetic Map1256.26UniSTS
Genethon Genetic Map1260.3UniSTS
deCODE Assembly Map1246.74UniSTS
Stanford-G3 RH Map19060.0UniSTS
GeneMap99-G3 RH Map19016.0UniSTS
D1S2680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,629,647 - 236,629,867UniSTSGRCh37
Build 361234,696,270 - 234,696,490RGDNCBI36
Celera1209,876,732 - 209,876,950RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,084,960 - 207,085,192UniSTS
Marshfield Genetic Map1256.26UniSTS
Marshfield Genetic Map1256.26RGD
Genethon Genetic Map1260.3UniSTS
TNG Radiation Hybrid Map1119284.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,641,625 - 236,641,884UniSTSGRCh37
Build 361234,708,248 - 234,708,507RGDNCBI36
Celera1209,888,708 - 209,888,967RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,097,090 - 207,097,349UniSTS
Marshfield Genetic Map1256.26UniSTS
Marshfield Genetic Map1256.26RGD
Genethon Genetic Map1260.3UniSTS
deCODE Assembly Map1246.74UniSTS
RH121427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,579,665 - 236,579,890UniSTSGRCh37
Build 361234,646,288 - 234,646,513RGDNCBI36
Celera1209,826,748 - 209,826,973RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,034,967 - 207,035,192UniSTS
TNG Radiation Hybrid Map1119262.0UniSTS
SHGC-150737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,630,624 - 236,630,892UniSTSGRCh37
Build 361234,697,247 - 234,697,515RGDNCBI36
Celera1209,877,707 - 209,877,975RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,085,949 - 207,086,217UniSTS
TNG Radiation Hybrid Map1033043.0UniSTS
TNG Radiation Hybrid Map1119296.0UniSTS
AB072753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,647,714 - 236,647,887UniSTSGRCh37
Build 361234,714,337 - 234,714,510RGDNCBI36
Celera1209,894,788 - 209,894,961RGD
HuRef1207,103,173 - 207,103,346UniSTS
D1S372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,629,599 - 236,629,939UniSTSGRCh37
Build 361234,696,222 - 234,696,562RGDNCBI36
Celera1209,876,684 - 209,877,022RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,084,912 - 207,085,264UniSTS
Stanford-G3 RH Map19065.0UniSTS
D1S1680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,568,940 - 236,569,338UniSTSGRCh37
Build 361234,635,563 - 234,635,961RGDNCBI36
Celera1209,816,034 - 209,816,421RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,024,111 - 207,024,495UniSTS
Whitehead-RH Map1910.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S3450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,621,596 - 236,621,714UniSTSGRCh37
Build 361234,688,219 - 234,688,337RGDNCBI36
Celera1209,868,681 - 209,868,799RGD
Cytogenetic Map1q42.3UniSTS
HuRef1207,076,857 - 207,076,977UniSTS
TNG Radiation Hybrid Map1119288.0UniSTS
GeneMap99-GB4 RH Map1740.49UniSTS
Whitehead-RH Map1910.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
99-13794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,647,216 - 236,647,696UniSTSGRCh37
Build 361234,713,839 - 234,714,319RGDNCBI36
Celera1209,894,290 - 209,894,770RGD
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q43UniSTS
HuRef1207,102,675 - 207,103,155UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1174 2290 2382 2103 4470 1638 2243 4 576 1745 418 2230 6468 6071 42 3268 830 1694 1555 170


1 to 24 of 24 rows
RefSeq Transcripts NG_011566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001422628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH010677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY028914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY071862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN005919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP742956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 24 of 24 rows

Ensembl Acc Id: ENST00000334232   ⟹   ENSP00000335076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,394,286 - 236,484,930 (+)Ensembl
Ensembl Acc Id: ENST00000359362   ⟹   ENSP00000352320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,395,413 - 236,484,930 (+)Ensembl
Ensembl Acc Id: ENST00000439430   ⟹   ENSP00000405815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,348,262 - 236,482,319 (+)Ensembl
Ensembl Acc Id: ENST00000637660   ⟹   ENSP00000490347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,348,257 - 236,484,837 (+)Ensembl
Ensembl Acc Id: ENST00000642595   ⟹   ENSP00000494458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1236,395,449 - 236,502,915 (+)Ensembl
RefSeq Acc Id: NM_001422628   ⟹   NP_001409557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,348,259 - 236,484,930 (+)NCBI
T2T-CHM13v2.01235,750,587 - 235,884,698 (+)NCBI
RefSeq Acc Id: NM_080738   ⟹   NP_542776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,395,413 - 236,484,930 (+)NCBI
GRCh371236,557,680 - 236,648,008 (+)RGD
Build 361234,625,339 - 234,714,631 (+)NCBI Archive
Celera1209,804,771 - 209,895,082 (+)RGD
HuRef1207,012,849 - 207,103,467 (+)RGD
CHM1_11237,831,024 - 237,920,874 (+)NCBI
T2T-CHM13v2.01235,795,525 - 235,884,698 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145861   ⟹   NP_665860
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,394,286 - 236,484,930 (+)NCBI
GRCh371236,557,680 - 236,648,008 (+)RGD
Build 361234,624,303 - 234,714,631 (+)NCBI Archive
Celera1209,804,771 - 209,895,082 (+)RGD
HuRef1207,012,849 - 207,103,467 (+)RGD
CHM1_11237,829,988 - 237,920,874 (+)NCBI
T2T-CHM13v2.01235,794,398 - 235,884,698 (+)NCBI
Sequence:
RefSeq Acc Id: NP_665860   ⟸   NM_145861
- Peptide Label: isoform A
- UniProtKB: B9ZVW5 (UniProtKB/Swiss-Prot),   B1AL54 (UniProtKB/Swiss-Prot),   A8K7B5 (UniProtKB/Swiss-Prot),   A2VCK5 (UniProtKB/Swiss-Prot),   Q5VYJ7 (UniProtKB/Swiss-Prot),   Q8WWZ3 (UniProtKB/Swiss-Prot),   A0A0K0VQ49 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_542776   ⟸   NM_080738
- Peptide Label: isoform B
- UniProtKB: A0A0K0VQ49 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352320   ⟸   ENST00000359362
Ensembl Acc Id: ENSP00000405815   ⟸   ENST00000439430
Ensembl Acc Id: ENSP00000335076   ⟸   ENST00000334232
Death   Enolase C-terminal TIM barrel   Enolase N-terminal

Name Modeler Protein Id AA Range Protein Structure
AF-Q8WWZ3-F1-model_v2 AlphaFold Q8WWZ3 1-215 view protein structure

RGD ID:6785090
Promoter ID:HG_KWN:7967
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000096368
Position:
Human AssemblyChrPosition (strand)Source
Build 361234,624,021 - 234,624,521 (+)MPROMDB
RGD ID:6785091
Promoter ID:HG_KWN:7968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000096369
Position:
Human AssemblyChrPosition (strand)Source
Build 361234,625,071 - 234,625,571 (+)MPROMDB
RGD ID:6859370
Promoter ID:EPDNEW_H2850
Type:initiation region
Name:EDARADD_3
Description:EDAR associated death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2851  EPDNEW_H2852  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,348,259 - 236,348,319EPDNEW
RGD ID:6859372
Promoter ID:EPDNEW_H2851
Type:initiation region
Name:EDARADD_2
Description:EDAR associated death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2850  EPDNEW_H2852  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,394,286 - 236,394,346EPDNEW
RGD ID:6859374
Promoter ID:EPDNEW_H2852
Type:initiation region
Name:EDARADD_1
Description:EDAR associated death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2850  EPDNEW_H2851  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381236,395,441 - 236,395,501EPDNEW


1 to 40 of 40 rows
Database
Acc Id
Source(s)
COSMIC EDARADD COSMIC
Ensembl Genes ENSG00000186197 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000334232 ENTREZGENE
  ENST00000334232.9 UniProtKB/Swiss-Prot
  ENST00000359362 ENTREZGENE
  ENST00000359362.6 UniProtKB/Swiss-Prot
  ENST00000637660 ENTREZGENE
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot
GTEx ENSG00000186197 GTEx
HGNC ID HGNC:14341 ENTREZGENE
Human Proteome Map EDARADD Human Proteome Map
InterPro DEATH-like_dom_sf UniProtKB/Swiss-Prot
  Death_domain UniProtKB/Swiss-Prot
  EDARADD UniProtKB/Swiss-Prot
KEGG Report hsa:128178 UniProtKB/Swiss-Prot
NCBI Gene 128178 ENTREZGENE
OMIM 606603 OMIM
PANTHER ECTODYSPLASIN-A RECEPTOR-ASSOCIATED ADAPTER PROTEIN UniProtKB/Swiss-Prot
  PTHR28469 UniProtKB/Swiss-Prot
Pfam Death UniProtKB/Swiss-Prot
PharmGKB PA27603 PharmGKB
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot
UniProt A0A0K0VQ49 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GV26 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y5E0_HUMAN UniProtKB/TrEMBL
  A2VCK5 ENTREZGENE
  A8K7B5 ENTREZGENE
  B1AL54 ENTREZGENE
  B1AL55_HUMAN UniProtKB/TrEMBL
  B9ZVW5 ENTREZGENE
  EDAD_HUMAN UniProtKB/Swiss-Prot
  G8FL38_HUMAN UniProtKB/TrEMBL
  L0R849_HUMAN UniProtKB/TrEMBL
  Q5VYJ7 ENTREZGENE
  Q8WWZ3 ENTREZGENE
UniProt Secondary A2VCK5 UniProtKB/Swiss-Prot
  A8K7B5 UniProtKB/Swiss-Prot
  B1AL54 UniProtKB/Swiss-Prot
  B9ZVW5 UniProtKB/Swiss-Prot
  Q5VYJ7 UniProtKB/Swiss-Prot
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Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-01-23 EDARADD  EDAR associated via death domain  EDARADD  EDAR associated death domain  Symbol and/or name change 19259463 PROVISIONAL
2016-06-21 EDARADD  EDAR associated death domain  EDARADD  EDAR-associated death domain  Symbol and/or name change 5135510 APPROVED