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PTH (parathyroid hormone)

Identity

Alias_symbol (synonym)PTH1
Other alias
HGNC (Hugo) PTH
LocusID (NCBI) 5741
Atlas_Id 50622
Location 11p15.2  [Link to chromosome band 11p15]
Location_base_pair Starts at 13513592 and ends at 13517567 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KHDRBS1 (1p35.1) / PTH (11p15.2)NUMA1 (11q13.4) / PTH (11p15.2)NUMA1 11q13.4 / PTH 11p15.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PTH   9606
Cards
Entrez_Gene (NCBI)PTH  5741  parathyroid hormone
AliasesPTH1
GeneCards (Weizmann)PTH
Ensembl hg19 (Hinxton)ENSG00000152266 [Gene_View]  chr11:13513592-13517567 [Contig_View]  PTH [Vega]
Ensembl hg38 (Hinxton)ENSG00000152266 [Gene_View]  chr11:13513592-13517567 [Contig_View]  PTH [Vega]
ICGC DataPortalENSG00000152266
TCGA cBioPortalPTH
AceView (NCBI)PTH
Genatlas (Paris)PTH
WikiGenes5741
SOURCE (Princeton)PTH
Genetics Home Reference (NIH)PTH
Genomic and cartography
GoldenPath hg19 (UCSC)PTH  -     chr11:13513592-13517567 -  11p15.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PTH  -     11p15.2   [Description]    (hg38-Dec_2013)
EnsemblPTH - 11p15.2 [CytoView hg19]  PTH - 11p15.2 [CytoView hg38]
Mapping of homologs : NCBIPTH [Mapview hg19]  PTH [Mapview hg38]
OMIM146200   168450   
Gene and transcription
Genbank (Entrez)AA843660 AA889450 BC096142 BC096143 BC096144
RefSeq transcript (Entrez)NM_000315 NM_001316352
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008962 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)PTH
Cluster EST : UnigeneHs.37045 [ NCBI ]
CGAP (NCI)Hs.37045
Alternative Splicing GalleryENSG00000152266
Gene ExpressionPTH [ NCBI-GEO ]   PTH [ EBI - ARRAY_EXPRESS ]   PTH [ SEEK ]   PTH [ MEM ]
Gene Expression Viewer (FireBrowse)PTH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5741
GTEX Portal (Tissue expression)PTH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01270   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01270  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01270
Splice isoforms : SwissVarP01270
PhosPhoSitePlusP01270
Domaine pattern : Prosite (Expaxy)PARATHYROID (PS00335)   
Domains : Interpro (EBI)PTH    PTH/PTH-rel   
Domain families : Pfam (Sanger)Parathyroid (PF01279)   
Domain families : Pfam (NCBI)pfam01279   
Domain families : Smart (EMBL)PTH (SM00087)  
Conserved Domain (NCBI)PTH
DMDM Disease mutations5741
Blocks (Seattle)PTH
PDB (SRS)1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
PDB (PDBSum)1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
PDB (IMB)1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
PDB (RSDB)1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
Structural Biology KnowledgeBase1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
SCOP (Structural Classification of Proteins)1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
CATH (Classification of proteins structures)1BWX    1ET1    1ET2    1FVY    1HPH    1HPY    1HTH    1ZWA    1ZWB    1ZWD    1ZWE    1ZWF    1ZWG    2L1X    3C4M   
SuperfamilyP01270
Human Protein AtlasENSG00000152266
Peptide AtlasP01270
HPRD01345
IPIIPI00000940   
Protein Interaction databases
DIP (DOE-UCLA)P01270
IntAct (EBI)P01270
FunCoupENSG00000152266
BioGRIDPTH
STRING (EMBL)PTH
ZODIACPTH
Ontologies - Pathways
QuickGOP01270
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  skeletal system development  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  hormone activity  extracellular region  extracellular region  extracellular space  intracellular  cellular calcium ion homeostasis  G-protein coupled receptor signaling pathway  adenylate cyclase-activating G-protein coupled receptor signaling pathway  Rho protein signal transduction  cell-cell signaling  hormone-mediated apoptotic signaling pathway  positive regulation of signal transduction  response to lead ion  regulation of gene expression  positive regulation of bone mineralization  positive regulation of cAMP biosynthetic process  parathyroid hormone receptor binding  type 1 parathyroid hormone receptor binding  response to vitamin D  cellular macromolecule biosynthetic process  response to drug  bone resorption  bone resorption  response to ethanol  positive regulation of glycogen biosynthetic process  positive regulation of transcription from RNA polymerase II promoter  cAMP metabolic process  positive regulation of glucose import  response to cadmium ion  homeostasis of number of cells within a tissue  peptide hormone receptor binding  response to parathyroid hormone  response to fibroblast growth factor  positive regulation of cell proliferation in bone marrow  negative regulation of apoptotic process in bone marrow  positive regulation of osteoclast proliferation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  skeletal system development  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  hormone activity  extracellular region  extracellular region  extracellular space  intracellular  cellular calcium ion homeostasis  G-protein coupled receptor signaling pathway  adenylate cyclase-activating G-protein coupled receptor signaling pathway  Rho protein signal transduction  cell-cell signaling  hormone-mediated apoptotic signaling pathway  positive regulation of signal transduction  response to lead ion  regulation of gene expression  positive regulation of bone mineralization  positive regulation of cAMP biosynthetic process  parathyroid hormone receptor binding  type 1 parathyroid hormone receptor binding  response to vitamin D  cellular macromolecule biosynthetic process  response to drug  bone resorption  bone resorption  response to ethanol  positive regulation of glycogen biosynthetic process  positive regulation of transcription from RNA polymerase II promoter  cAMP metabolic process  positive regulation of glucose import  response to cadmium ion  homeostasis of number of cells within a tissue  peptide hormone receptor binding  response to parathyroid hormone  response to fibroblast growth factor  positive regulation of cell proliferation in bone marrow  negative regulation of apoptotic process in bone marrow  positive regulation of osteoclast proliferation  
NDEx NetworkPTH
Atlas of Cancer Signalling NetworkPTH
Wikipedia pathwaysPTH
Orthology - Evolution
OrthoDB5741
GeneTree (enSembl)ENSG00000152266
Phylogenetic Trees/Animal Genes : TreeFamPTH
HOVERGENP01270
HOGENOMP01270
Homologs : HomoloGenePTH
Homology/Alignments : Family Browser (UCSC)PTH
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/PTH [11q13.4/11p15.2]  [t(11;11)(p15;q13)]  
Fusion: TCGANUMA1 11q13.4 PTH 11p15.2 BRCA
Fusion Cancer (Beijing)KHDRBS1 [1p35.1]  -  PTH [11p15.2]  [FUSC004152]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTH
dbVarPTH
ClinVarPTH
1000_GenomesPTH 
Exome Variant ServerPTH
ExAC (Exome Aggregation Consortium)PTH (select the gene name)
Genetic variants : HAPMAP5741
Genomic Variants (DGV)PTH [DGVbeta]
DECIPHER (Syndromes)11:13513592-13517567  ENSG00000152266
CONAN: Copy Number AnalysisPTH 
Mutations
ICGC Data PortalPTH 
TCGA Data PortalPTH 
Broad Tumor PortalPTH
OASIS PortalPTH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTH
DgiDB (Drug Gene Interaction Database)PTH
DoCM (Curated mutations)PTH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTH (select a term)
intoGenPTH
Cancer3DPTH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146200    168450   
Orphanet18377   
MedgenPTH
Genetic Testing Registry PTH
NextProtP01270 [Medical]
TSGene5741
GENETestsPTH
Huge Navigator PTH [HugePedia]
snp3D : Map Gene to Disease5741
BioCentury BCIQPTH
ClinGenPTH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5741
Chemical/Pharm GKB GenePA33951
Clinical trialPTH
Miscellaneous
canSAR (ICR)PTH (select the gene name)
Probes
Litterature
PubMed252 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTH
EVEXPTH
GoPubMedPTH
iHOPPTH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:16:11 CEST 2017

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