ENSG00000131080


Homo sapiens

Features
Gene ID: ENSG00000131080
  
Biological name :EDA2R
  
Synonyms : ectodysplasin A2 receptor / EDA2R / Q9HAV5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q12
Gene start: 66595637
Gene end: 66639298
  
Corresponding Affymetrix probe sets: 221399_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000253392
Ensembl peptide - ENSP00000363851
Ensembl peptide - ENSP00000379365
Ensembl peptide - ENSP00000415242
NCBI entrez gene - 60401     See in Manteia.
OMIM - 300276
RefSeq - XM_017029706
RefSeq - NM_001199687
RefSeq - NM_001242310
RefSeq - NM_001324201
RefSeq - NM_001324206
RefSeq - NM_021783
RefSeq - XM_011531005
RefSeq - XM_011531006
RefSeq - XM_011531007
RefSeq - XM_017029703
RefSeq - XM_017029704
RefSeq - XM_017029705
RefSeq - XM_011531000
RefSeq - XM_011531001
RefSeq - XM_011531002
RefSeq - XM_011531003
RefSeq - XM_011531004
RefSeq Peptide - NP_001229239
RefSeq Peptide - NP_001311130
RefSeq Peptide - NP_001311135
RefSeq Peptide - NP_068555
RefSeq Peptide - NP_001186616
swissprot - Q9HAV5
Ensembl - ENSG00000131080
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EDA2RENSGALG00000031094Gallus gallus
 Eda2rENSMUSG00000034457Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9NS68 / TNFRSF19 / TNF receptor superfamily member 19ENSG0000012786332


Protein motifs (from Interpro)
Interpro ID Name
 IPR001368  TNFR/NGFR cysteine-rich region
 IPR022319  Tumour necrosis factor receptor 27
 IPR034060  Tumor necrosis factor receptor 27, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0008544 epidermis development NAS
 biological_processGO:0009888 tissue development IBA
 biological_processGO:0010668 ectodermal cell differentiation IC
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0033209 tumor necrosis factor-mediated signaling pathway TAS
 biological_processGO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IBA
 biological_processGO:0046330 positive regulation of JNK cascade IDA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IDA
 biological_processGO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IC
 molecular_functionGO:0005031 tumor necrosis factor-activated receptor activity NAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
TNFs bind their physiological receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000232 Everted lower lip 
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 HP:0000457 Flat nose 
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000830 Hypopituitarism "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators]
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 HP:0000966 Hypohidrosis "Abnormally diminished capacity to sweat." [HPO:curators]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0009882 Hypoplasia of the distal phalanges of the hand 
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 HP:0010803 Everted upper lip vermilion "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an `everted` (PATO:0001597) `upper lip` (FMA:59817)." [HPO:probinson, pmid:19125428]
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 HP:0100651 Diabetes mellitus Type I 
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000158813 EDA / Q92838 / ectodysplasin A  / reaction / complex






 

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