ENSG00000152266


Homo sapiens

Features
Gene ID: ENSG00000152266
  
Biological name :PTH
  
Synonyms : P01270 / parathyroid hormone / PTH
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p15.3
Gene start: 13492055
Gene end: 13496181
  
Corresponding Affymetrix probe sets: 206977_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000282091
Ensembl peptide - ENSP00000433208
NCBI entrez gene - 5741     See in Manteia.
OMIM - 168450
RefSeq - NM_000315
RefSeq - NM_001316352
RefSeq Peptide - NP_000306
RefSeq Peptide - NP_001303281
swissprot - P01270
Ensembl - ENSG00000152266
  
Related genetic diseases (OMIM): 146200 - Hypoparathyroidism, autosomal dominant, 146200
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
 PTHENSGALG00000042878Gallus gallus
 PthENSMUSG00000059077Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001415  Parathyroid hormone/parathyroid hormone-related protein
 IPR003625  Parathyroid hormone


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0001501 skeletal system development TAS
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA
 biological_processGO:0007202 activation of phospholipase C activity IMP
 biological_processGO:0007266 Rho protein signal transduction IEA
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0008628 hormone-mediated apoptotic signaling pathway TAS
 biological_processGO:0009967 positive regulation of signal transduction IEA
 biological_processGO:0010288 response to lead ion IEA
 biological_processGO:0010468 regulation of gene expression IDA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0030501 positive regulation of bone mineralization IDA
 biological_processGO:0030819 obsolete positive regulation of cAMP biosynthetic process IMP
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032331 negative regulation of chondrocyte differentiation IEA
 biological_processGO:0033280 response to vitamin D IEA
 biological_processGO:0034645 cellular macromolecule biosynthetic process IDA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0045453 bone resorption IBA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045725 positive regulation of glycogen biosynthetic process IDA
 biological_processGO:0045778 positive regulation of ossification IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046058 cAMP metabolic process TAS
 biological_processGO:0046326 positive regulation of glucose import IDA
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0048873 homeostasis of number of cells within a tissue IEA
 biological_processGO:0060732 positive regulation of inositol phosphate biosynthetic process IMP
 biological_processGO:0071107 response to parathyroid hormone IEA
 biological_processGO:0071774 response to fibroblast growth factor IEA
 biological_processGO:0071864 positive regulation of cell proliferation in bone marrow IEA
 biological_processGO:0071866 negative regulation of apoptotic process in bone marrow IEA
 biological_processGO:0090290 positive regulation of osteoclast proliferation IEA
 biological_processGO:1900158 negative regulation of bone mineralization involved in bone maturation IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005623 cell IEA
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IMP
 molecular_functionGO:0005179 hormone activity IMP
 molecular_functionGO:0031856 parathyroid hormone receptor binding IEA
 molecular_functionGO:0031857 type 1 parathyroid hormone receptor binding IMP
 molecular_functionGO:0047485 protein N-terminus binding IMP
 molecular_functionGO:0048018 receptor ligand activity IMP
 molecular_functionGO:0051428 peptide hormone receptor binding IDA


Pathways (from Reactome)
Pathway description
Class B/2 (Secretin family receptors)
G alpha (s) signalling events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000829 Hypoparathyroidism 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001281 Tetany 
Show

 HP:0002514 Cerebral calcification "The presence of calcification within brain structures." [HPO:curators]
Show

 HP:0002901 Hypocalcemia "A level of blood calcium that is lower than normal." [HPO:curators]
Show

 HP:0002905 Hyperphosphatemia 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000144407 PTH2R / P49190 / parathyroid hormone 2 receptor  / complex / reaction
 ENSG00000160801 PTH1R / Q03431 / parathyroid hormone 1 receptor  / complex / reaction






 

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