PTH (parathyroid hormone)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5741
Gene name Gene Name - the full gene name approved by the HGNC.
Parathyroid hormone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTH
Synonyms (NCBI Gene) Gene synonyms aliases
FIH1, PTH1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
APEX1 Repression 14633989
GCM2 Activation 20558332
RUNX2 Unknown 11814673
VDR Repression 17095575;7489414
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(71)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
168450 9606 ENSG00000152266
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypoparathyroidism Hypoparathyroidism, familial isolated 1, Familial hypoparathyroidism rs104894271, rs2134093224, rs104894272, rs6256 N/A
Hyperthyroidism Primary hyperparathyroidism rs6256 N/A
Show/Hide Text Mining Associations (192)
Associations from Text Mining Disease 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