Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

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

Show/Hide all (4)

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

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

MIM	HGNC	e!Ensembl
168450	9606	ENSG00000152266

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

Interactions

View interactions

	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

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL NEVUS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES, ENDOCRINE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE RESORPTION	—	CTD	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCIURIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, PRIMARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM, SECONDARY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOCALCEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS, POSTMENOPAUSAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UREMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PTH (parathyroid hormone)