ENSG00000174417


Homo sapiens

Features
Gene ID: ENSG00000174417
  
Biological name :TRHR
  
Synonyms : P34981 / thyrotropin releasing hormone receptor / TRHR
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: 1
Band: q23.1
Gene start: 109086621
Gene end: 109119584
  
Corresponding Affymetrix probe sets: 211438_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000309818
Ensembl peptide - ENSP00000430711
NCBI entrez gene - 7201     See in Manteia.
OMIM - 188545
RefSeq - XM_011517263
RefSeq - NM_003301
RefSeq Peptide - NP_003292
swissprot - P34981
Ensembl - ENSG00000174417
  
Related genetic diseases (OMIM): 188545 - Thyrotropin-releasing hormone resistance, generalized
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
 trhraENSDARG00000076546Danio rerio
 trhrbENSDARG00000036159Danio rerio
 TRHRENSGALG00000033701Gallus gallus
 TrhrENSMUSG00000038760Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NMUR2 / Q9GZQ4 / neuromedin U receptor 2ENSG0000013291125
GHSR / Q92847 / growth hormone secretagogue receptorENSG0000012185323
NMUR1 / Q9HB89 / neuromedin U receptor 1ENSG0000017159623
MLNR / O43193 / motilin receptorENSG0000010253922
NTSR1 / P30989 / neurotensin receptor 1ENSG0000010118821
GPR39 / O43194 / G protein-coupled receptor 39ENSG0000018384020
NTSR2 / O95665 / neurotensin receptor 2ENSG0000016900618


Protein motifs (from Interpro)
Interpro ID Name
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR002120  Thyrotropin-releasing hormone receptor
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0004997 thyrotropin-releasing hormone receptor activity TAS


Pathways (from Reactome)
Pathway description
Peptide ligand-binding receptors
G alpha (q) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000158 Macroglossia "Increased length and width of the tongue." [pmid:19125428]
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 HP:0000280 Coarse facial features 
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 HP:0000821 Hypothyroidism 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001510 Growth retardation 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0002019 Constipation 
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0004491 Large posterior fontanelle "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:curators]
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 HP:0006579 Prolonged neonatal jaundice 
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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