PTH (parathyroid hormone)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5741
• Gene name: Parathyroid hormone
• Gene symbol: PTH
• Synonyms (NCBI Gene): FIH1, PTH1
• 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 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

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 factor	Regulation	Reference
APEX1	Repression	14633989
GCM2	Activation	20558332
RUNX2	Unknown	11814673
VDR	Repression	17095575;7489414

Gene ontology (GO) 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
GO:0005179	Function	Hormone activity	TAS	10499494
GO:0005515	Function	Protein binding	IMP	11604398
GO:0005515	Function	Protein binding	IPI	19674967, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	4509319, 7829495
GO:0005615	Component	Extracellular space	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7797535
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384, 35932760
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	11604398
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	TAS	7721880
GO:0008628	Process	Hormone-mediated apoptotic signaling pathway	TAS	10913913
GO:0009059	Process	Macromolecule biosynthetic process	IDA	19723499
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0010468	Process	Regulation of gene expression	IDA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	17696759
GO:0010960	Process	Magnesium ion homeostasis	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IDA	17696759
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0031856	Function	Parathyroid hormone receptor binding	IBA
GO:0031856	Function	Parathyroid hormone receptor binding	IEA
GO:0031857	Function	Type 1 parathyroid hormone receptor binding	IEA
GO:0031857	Function	Type 1 parathyroid hormone receptor binding	IMP	11604398
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0033280	Process	Response to vitamin D	IEA
GO:0045453	Process	Bone resorption	NAS	15080150
GO:0045471	Process	Response to ethanol	IEA
GO:0045725	Process	Positive regulation of glycogen biosynthetic process	IDA	21076856
GO:0045778	Process	Positive regulation of ossification	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19723499
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046058	Process	CAMP metabolic process	TAS	9927325
GO:0046326	Process	Positive regulation of D-glucose import	IDA	21076856
GO:0046686	Process	Response to cadmium ion	IEA
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	IMP	11604398
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0051428	Function	Peptide hormone receptor binding	IDA	19674967
GO:0051428	Function	Peptide hormone receptor binding	IEA
GO:0051428	Function	Peptide hormone receptor binding	IMP	11604398
GO:0055062	Process	Phosphate ion homeostasis	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060732	Process	Positive regulation of inositol phosphate biosynthetic process	IMP	11604398
GO:0071107	Process	Response to parathyroid hormone	IEA
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0071864	Process	Positive regulation of cell proliferation in bone marrow	IEA
GO:0071866	Process	Negative regulation of apoptotic process in bone marrow cell	IEA
GO:0090290	Process	Positive regulation of osteoclast proliferation	IEA
GO:0140582	Process	Adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway	IDA	35932760
GO:1900158	Process	Negative regulation of bone mineralization involved in bone maturation	IEA

Other IDs

• MIM: 168450
• HGNC: 9606
• e!Ensembl: ENSG00000152266

Protein

• 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:

  MIPAKDMAKVMIVMLAICFLTKSDGKSVKKRSVSEIQLMHNLGKHLNSMERVEWLRKKLQ
  DVHNFVALGAPLAPRDAGSQRPRKKEDNVLVESHEKSLGEADKADVNVLTKAKSQ

• Sequence length: 115

Pathways

KEGG Pathway	Reactome Pathway
Neuroactive ligand-receptor interaction	Class B/2 (Secretin family receptors)
Hormone signaling	G alpha (s) signalling events
Parathyroid hormone synthesis, secretion and action	ADORA2B mediated anti-inflammatory cytokines production
Endocrine and other factor-regulated calcium reabsorption
Rheumatoid arthritis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Familial hypoparathyroidism	Likely pathogenic	rs6256	RCV002221476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoparathyroidism, familial isolated 1	Pathogenic	rs104894271, rs2134093224, rs104894272	RCV000014764 RCV004593962 RCV000014766	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary hyperparathyroidism	Likely pathogenic	rs6256	RCV000014767	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (24)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANEMIA	—	CTD, Disgenet CTD, Disgenet	15354979, 19578808	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL NEVUS SYNDROME	—	CTD	24803734	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, ENDOCRINE	—	CTD, Disgenet CTD, Disgenet	18635661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE RESORPTION	—	CTD	9881647	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED HYPOPARATHYROIDISM DUE TO IMPAIRED PTH SECRETION	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	10523031, 2212001, 2212001, 10523031, 22722080, 22722080	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	17162251	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	10638776, 12399635, 17164314, 4004906, 7891547, 9382671	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCIURIA	—	CTD	17164314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, PRIMARY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, SECONDARY	—	CTD, Disgenet CTD, Disgenet	21350317, 22118402, 22373954	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	1930854	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA	—	CTD, Disgenet CTD, Disgenet	11701698, 11770836	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	15710971, 17317460, 17882678, 19578808, 21306167, 30639440	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS, POSTMENOPAUSAL	—	CTD, Disgenet CTD, Disgenet	20567999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	28935272	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	28935272	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTH-related disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RICKETS	—	CTD, Disgenet CTD, Disgenet	10375030	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	2051637	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PTH1R 2 shared diseasesHyperparathyroidism, Rickets 6 shared pathwaysHormone signaling, Parathyroid hormone synthesis, secretion and action, Endocrine and other factor-regulated calcium reabsorption, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production, Class B/2 (Secretin family receptors) 4 shared evidence sourcesDisgenet (Hyperparathyroidism), CTD (Hyperparathyroidism), Disgenet (Rickets), CTD (Rickets) Related via 6 shared pathways including Hormone signaling, Parathyroid hormone synthesis, secretion and action — evidence mostly Disgenet. PTHLH 3 shared diseasesBone resorption, Hypercalcemia, Ovarian serous carcinoma 5 shared pathwaysHormone signaling, Parathyroid hormone synthesis, secretion and action, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production, Class B/2 (Secretin family receptors) 4 shared evidence sourcesCTD (Bone resorption), CTD (Hypercalcemia), Disgenet (Hypercalcemia), GWAS catalog (Ovarian serous carcinoma) Related via 5 shared pathways including Hormone signaling, Parathyroid hormone synthesis, secretion and action — evidence mostly CTD. CALCR 2 shared diseasesHypercalcemia, Osteoporosis 3 shared pathwaysHormone signaling, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production 4 shared evidence sourcesCTD (Hypercalcemia), Disgenet (Hypercalcemia), Disgenet (Osteoporosis), CTD (Osteoporosis) Related via 3 shared pathways including Hormone signaling, G alpha (s) signalling events — evidence mostly CTD. TNFRSF11B 4 shared diseasesBone resorption, Hypercalcemia, Osteoporosis, Uremia 7 shared evidence sourcesCTD (Bone resorption), CTD (Hypercalcemia), Disgenet (Hypercalcemia), Disgenet (Osteoporosis), CTD (Osteoporosis), CTD (Uremia), Disgenet (Uremia) Related via 4 shared diseases including Bone resorption, Hypercalcemia — evidence mostly CTD. CALCA 2 shared diseasesHypercalcemia, Osteoporosis 3 shared pathwaysHormone signaling, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production 4 shared evidence sourcesCTD (Hypertension), CTD (Hypercalcemia), Disgenet (Hypercalcemia), Disgenet (Osteoporosis) Related via 3 shared pathways including Hormone signaling, G alpha (s) signalling events — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PTH1R	2	["Hyperparathyroidism","Rickets"]	6	["Hormone signaling","Parathyroid hormone synthesis, secretion and action","Endocrine and other factor-regulated calcium reabsorption","G alpha (s) signalling events","ADORA2B mediated anti-inflammatory cytokines production","Class B\/2 (Secretin family receptors)"]	4	["Disgenet (Hyperparathyroidism)","CTD (Hyperparathyroidism)","Disgenet (Rickets)","CTD (Rickets)"]
PTHLH	3	["Bone resorption","Hypercalcemia","Ovarian serous carcinoma"]	5	["Hormone signaling","Parathyroid hormone synthesis, secretion and action","G alpha (s) signalling events","ADORA2B mediated anti-inflammatory cytokines production","Class B\/2 (Secretin family receptors)"]	4	["CTD (Bone resorption)","CTD (Hypercalcemia)","Disgenet (Hypercalcemia)","GWAS catalog (Ovarian serous carcinoma)"]
CALCR	2	["Hypercalcemia","Osteoporosis"]	3	["Hormone signaling","G alpha (s) signalling events","ADORA2B mediated anti-inflammatory cytokines production"]	4	["CTD (Hypercalcemia)","Disgenet (Hypercalcemia)","Disgenet (Osteoporosis)","CTD (Osteoporosis)"]
TNFRSF11B	4	["Bone resorption","Hypercalcemia","Osteoporosis","Uremia"]	0	[]	7	["CTD (Bone resorption)","CTD (Hypercalcemia)","Disgenet (Hypercalcemia)","Disgenet (Osteoporosis)","CTD (Osteoporosis)","CTD (Uremia)","Disgenet (Uremia)"]
CALCA	2	["Hypercalcemia","Osteoporosis"]	3	["Hormone signaling","G alpha (s) signalling events","ADORA2B mediated anti-inflammatory cytokines production"]	4	["CTD (Hypertension)","CTD (Hypercalcemia)","Disgenet (Hypercalcemia)","Disgenet (Osteoporosis)"]

Diseases Linked via Similar Genes

Desbuquois syndrome Linked via 3 of 5 related genesPTH1R, PTHLH, TNFRSF11B Hyperalgesia Linked via 3 of 5 related genesPTHLH, TNFRSF11B, CALCA Brachydactyly Linked via 2 of 5 related genesPTH1R, PTHLH Connective tissue disease Linked via 2 of 5 related genesPTH1R, TNFRSF11B Lung disease Linked via 2 of 5 related genesPTH1R, PTHLH

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Desbuquois syndrome	3	["PTH1R","PTHLH","TNFRSF11B"]
Hyperalgesia	3	["PTHLH","TNFRSF11B","CALCA"]
Brachydactyly	2	["PTH1R","PTHLH"]
Connective tissue disease	2	["PTH1R","TNFRSF11B"]
Lung disease	2	["PTH1R","PTHLH"]