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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 and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PTH (Parathyroid Hormone) is a Protein Coding gene. Diseases associated with PTH include Hypoparathyroidism, Familial Isolated, 1 and Primary Hyperparathyroidism. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include hormone activity and peptide hormone receptor binding.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J013495 | Promoter | 0.6 | EPDnew | 250.7 | +0.2 | 166 | 0.1 | ATF2 ZNF350 KLF1 | PTH ENSG00000255401 HSALNG0082773 BTBD10 | |
GH11J013494 | Enhancer | 0.2 | Ensembl | 250.7 | +1.9 | 1880 | 0.2 | PTH ENSG00000255401 HSALNG0082773 BTBD10 | ||
GH11J013448 | Enhancer | 0.8 | Ensembl ENCODE | 10.1 | +47.6 | 47580 | 3.6 | EP400 CEBPG ATF4 ZNF148 CEBPB ATF3 MAFK TRIM24 MZF1 ATF2 | BTBD10 PTH piR-43105-076 lnc-PTH-3 ARNTL | |
GH11J013471 | Enhancer | 0.3 | Ensembl | 10.7 | +23.9 | 23880 | 1 | ZSCAN5C | piR-31534-091 PTH BTBD10 lnc-ARNTL-2 | |
GH11J013450 | Enhancer | 0.3 | Ensembl | 10.2 | +44.4 | 44378 | 2 | ZNF26 | PTH BTBD10 lnc-PTH-3 piR-43105-076 ARNTL |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | IMP | 11604398 |
GO:0005515 | protein binding | IPI | 19674967 |
GO:0031856 | parathyroid hormone receptor binding | IBA | 21873635 |
GO:0031857 | type 1 parathyroid hormone receptor binding | IMP | 11604398 |
GO:0047485 | protein N-terminus binding | IMP | 11604398 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | Peptide ligand-binding receptors | ||
3 | Endocrine and other factor-regulated calcium reabsorption | ||
4 | Parathyroid hormone synthesis, secretion and action | ||
5 | Rheumatoid arthritis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | TAS | 10913913 |
GO:0006874 | cellular calcium ion homeostasis | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007189 | adenylate cyclase-activating G protein-coupled receptor signaling pathway | IDA,IMP | 11604398 |
GO:0007202 | activation of phospholipase C activity | IMP | 11604398 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Vitamin D3 | Approved | Nutra | Fat-soluble secosteroids | 1139,1139 | ||
Alendronate | Approved | Pharma | Bone resorption inhibitor, Osteoclast function modifiers (important in bone metastasis) | 181 | ||
Calcium carbonate | Approved, Investigational | Pharma | 300 | |||
Calcitriol | Approved | Nutra | TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist | 177 | ||
Vitamin D | Approved, Vet_approved | Nutra | 2279 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Parathyroid hormone (1-34) (human) | Increases blood calcium level | 52232-67-4 |
Parathyroid Hormone (1-34), bovine | Enhancer of blood calcium level | 12583-68-5 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pth 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pth 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PTH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTH 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
879031 | Uncertain Significance: Familial isolated hypoparathyroidism | 13,492,308(-) |
T/C NM_000315.4(PTH):c.*97A>G |
THREE_PRIME_UTR | |
880245 | Uncertain Significance: Familial isolated hypoparathyroidism | 13,492,562(-) |
T/C NM_000315.4(PTH):c.191A>G (p.Asn64Ser) |
MISSENSE | |
880246 | Uncertain Significance: Familial isolated hypoparathyroidism | 13,492,630(-) |
G/T NM_000315.4(PTH):c.123C>A (p.Asn41Lys) |
MISSENSE | |
880247 | Benign: Familial isolated hypoparathyroidism | 13,492,787(-) |
C/T NM_000315.4(PTH):c.69G>A (p.Ser23=) |
SYNONYMOUS | |
rs104894271 | Pathogenic: Hypoparathyroidism, familial isolated 1. Hypoparathyroidism, familial isolated, 1 (FIH1) [MIM:146200] | 13,492,804(-) |
A/Gp.Cys18Arg NM_000315.4(PTH):c.52T>C (p.Cys18Arg) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1053021 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypoparathyroidism, familial isolated, 1 |
|
|
primary hyperparathyroidism |
|
|
familial isolated hypoparathyroidism |
|
|
hypoparathyroidism |
|
|
renal osteodystrophy |
|
|