PTH (parathyroid hormone)

2009-01-01  

Identity

HGNC
PTH
LOCATION
11p15.3
LOCUSID
5741
ALIAS
FIH1,PTH1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5741
MIM: 168450
HGNC: 9606
Ensembl: ENSG00000152266

Variants:

dbSNP: 5741
ClinVar: 5741
TCGA: ENSG00000152266
COSMIC: PTH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152266ENST00000282091P01270
ENSG00000152266ENST00000529816P01270

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363212532023Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation.4
367957552023Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.0
369778912023Roles of PTH and FGF23 in kidney failure: a focus on nonclassical effects.1
376649382023Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.0
377122732023[MiR-301a-5p modulates parathyroid hormone secretion in secondary hyperparathyroidism possibly by regulating calcium-sensing receptor].0
378151402023The Relationship Between Atrial Fibrillation and Parathyroid Hormone in Heart Failure Outpatients.0
363212532023Conditional Loss of Nmp4 in Mesenchymal Stem Progenitor Cells Enhances PTH-Induced Bone Formation.4
367957552023Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.0
369778912023Roles of PTH and FGF23 in kidney failure: a focus on nonclassical effects.1
376649382023Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.0
377122732023[MiR-301a-5p modulates parathyroid hormone secretion in secondary hyperparathyroidism possibly by regulating calcium-sensing receptor].0
378151402023The Relationship Between Atrial Fibrillation and Parathyroid Hormone in Heart Failure Outpatients.0
351657222022Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.2
359531182022The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.0
361628662022Vitamin D, parathyroid hormone, glucose metabolism and incident diabetes in the multiethnic study of atherosclerosis.2

Citation

Dessen P

PTH (parathyroid hormone)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50622/gene-fusions-explorer/teaching-explorer/css/lib/dataTables.bootstrap.min.css