PTH (parathyroid hormone)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5741
Gene name Parathyroid hormone
Gene symbol PTH
Synonyms (NCBI Gene)
FIH1PTH1
Chromosome 11
Chromosome location 11p15.3
Summary This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium a
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs6256 G>A,T Benign, pathogenic Stop gained, synonymous variant, coding sequence variant
rs104894271 A>G Pathogenic Missense variant, coding sequence variant
rs104894272 A>G Pathogenic Missense variant, coding sequence variant
rs199955107 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT018218 hsa-miR-335-5p Microarray 18185580
MIRT1273376 hsa-miR-1271 CLIP-seq
MIRT1273377 hsa-miR-3074-3p CLIP-seq
MIRT1273378 hsa-miR-361-5p CLIP-seq
MIRT1273379 hsa-miR-96 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
APEX1 Repression 14633989
GCM2 Activation 20558332
RUNX2 Unknown 11814673
VDR Repression 17095575;7489414
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10913913
GO:0005179 Function Hormone activity IBA
GO:0005179 Function Hormone activity IDA 35932760
GO:0005179 Function Hormone activity IEA
GO:0005179 Function Hormone activity IMP 11604398
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
168450 9606 ENSG00000152266
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01270
Protein name Parathyroid hormone (PTH) (Parathormone) (Parathyrin)
Protein function Parathyroid hormone elevates calcium level by dissolving the salts in bone and preventing their renal excretion (PubMed:11604398, PubMed:35932760). Acts by binding to its receptor, PTH1R, activating G protein-coupled receptor signaling (PubMed:1
PDB 1BWX , 1ET1 , 1FVY , 1HPH , 1HPY , 1HTH , 1ZWA , 1ZWB , 1ZWD , 1ZWE , 1ZWF , 1ZWG , 2L1X , 3C4M , 7VVK , 7VVL , 7VVM , 7VVN , 7VVO , 7Y36 , 8FLQ , 8HA0 , 8HAO , 8T5F , 9JR2 , 9JR3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01279 Parathyroid 29 → 112 Parathyroid hormone family Family
Sequence
Sequence length 115
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Rheumatoid arthritis 		  Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial hypoparathyroidism Likely pathogenic rs6256 RCV002221476
Hypoparathyroidism, familial isolated 1 Pathogenic rs104894271, rs2134093224, rs104894272 RCV000014764
RCV004593962
RCV000014766
Primary hyperparathyroidism Likely pathogenic rs6256 RCV000014767
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PTH-related disorder Likely benign rs755746923 RCV003899154
Show/Hide Text Mining Associations (192)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 32759398
Adenoma Associate 10201002, 21593105
Adenoma Stimulate 26973719
Adrenal Gland Diseases Stimulate 17227961
Anemia Aplastic Associate 20443870, 32714069
Anodontia Associate 39519162
Aortic Valve Calcification of Associate 35409134
Aortic Valve Disease Stimulate 23798203
Aortic Valve Stenosis Stimulate 23798203
Arteriolosclerosis Associate 17190908