PTH (parathyroid hormone) - Rat Genome Database

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Gene: PTH (parathyroid hormone) Homo sapiens
Analyze
Symbol: PTH
Name: parathyroid hormone
RGD ID: 69107
HGNC Page HGNC:9606
Description: Enables hormone activity; peptide hormone receptor binding activity; and type 1 parathyroid hormone receptor binding activity. Involved in several processes, including positive regulation of bone mineralization; positive regulation of glucose import; and regulation of carbohydrate biosynthetic process. Acts upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway; macromolecule biosynthetic process; and positive regulation of transcription by RNA polymerase II. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in several diseases, including chronic kidney disease; diabetes mellitus (multiple); familial isolated hypoparathyroidism; hyperphosphatemia; and secondary hyperparathyroidism. Biomarker of several diseases, including artery disease (multiple); atrophic gastritis; calcium oxalate nephrolithiasis; chronic kidney disease (multiple); and hyperparathyroidism (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FIH1; parathormone; parathyrin; parathyroid hormone 1; prepro-PTH; preproparathyroid hormone; PTH1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381113,492,054 - 13,496,181 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1113,492,054 - 13,496,181 (-)EnsemblGRCh38hg38GRCh38
GRCh371113,513,601 - 13,517,728 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361113,470,177 - 13,474,143 (-)NCBINCBI36Build 36hg18NCBI36
Build 341113,470,177 - 13,474,143NCBI
Celera1113,639,772 - 13,643,738 (-)NCBICelera
Cytogenetic Map11p15.3NCBI
HuRef1113,193,715 - 13,197,681 (-)NCBIHuRef
CHM1_11113,512,571 - 13,516,537 (-)NCBICHM1_1
T2T-CHM13v2.01113,584,795 - 13,588,918 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
24,25-Dihydroxyvitamin D  (EXP,ISO)
3',5'-cyclic AMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
8-Br-cAMP  (EXP)
adenine  (ISO)
alfacalcidol  (ISO)
aluminium atom  (EXP)
aluminium(0)  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
calcidiol  (ISO)
calciol  (EXP,ISO)
calcitriol  (EXP,ISO)
calcium atom  (EXP,ISO)
calcium carbonate  (EXP)
calcium(0)  (EXP,ISO)
canagliflozin  (ISO)
captopril  (ISO)
CGP 52608  (EXP)
cinacalcet  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
dexamethasone  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
furosemide  (ISO)
hydrogen chloride  (EXP)
ketoconazole  (ISO)
lead diacetate  (ISO)
lithium atom  (EXP,ISO)
lithium carbonate  (EXP)
lithium hydride  (EXP,ISO)
Maxacalcitol  (EXP,ISO)
menaquinone  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
nickel atom  (EXP)
paricalcitol  (EXP)
phenytoin  (EXP)
phosphorus atom  (ISO)
phosphorus(.)  (ISO)
protein kinase inhibitor  (ISO)
raloxifene  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
tamoxifen  (ISO)
Terfenadine  (EXP)
theophylline  (ISO)
Trapidil  (ISO)
trichostatin A  (EXP)
uranium atom  (ISO)
vanadyl sulfate  (EXP)
vinclozolin  (ISO)
vitamin D  (EXP)
vitamin K  (ISO)
warfarin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IDA,IEA,IMP)
bone mineralization  (IEA,ISO)
bone resorption  (NAS)
calcium ion homeostasis  (IEA)
cAMP metabolic process  (TAS)
cell-cell signaling  (IBA,IEA,ISO,TAS)
G protein-coupled receptor signaling pathway  (TAS)
homeostasis of number of cells within a tissue  (IEA,ISO)
hormone-mediated apoptotic signaling pathway  (TAS)
intracellular calcium ion homeostasis  (IEA,ISO)
macromolecule biosynthetic process  (IDA)
magnesium ion homeostasis  (IEA)
negative regulation of apoptotic process in bone marrow cell  (IEA,ISO)
negative regulation of bone mineralization involved in bone maturation  (IEA)
negative regulation of chondrocyte differentiation  (IEA)
negative regulation of gene expression  (IDA)
phosphate ion homeostasis  (IEA)
positive regulation of bone mineralization  (IDA,IEA,ISO)
positive regulation of cell proliferation in bone marrow  (IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of glucose import  (IDA)
positive regulation of glycogen biosynthetic process  (IDA)
positive regulation of inositol phosphate biosynthetic process  (IMP)
positive regulation of ossification  (IEA,ISO)
positive regulation of osteoclast proliferation  (IEA,ISO)
positive regulation of signal transduction  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA)
regulation of gene expression  (IDA,IEA)
response to cadmium ion  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to fibroblast growth factor  (IEA,ISO)
response to lead ion  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to parathyroid hormone  (IEA,ISO)
response to vitamin D  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
Rho protein signal transduction  (IEA,ISO)
signal transduction  (IEA,ISO)
skeletal system development  (TAS)
transcription by RNA polymerase II  (IEA,ISO)

Cellular Component
extracellular region  (IEA,NAS,TAS)
extracellular space  (IBA,IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. Arnold A, etal., J Clin Invest. 1990 Oct;86(4):1084-7.
2. Serum vitamin D levels in children with recurrent otitis media. Cayir A, etal., Eur Arch Otorhinolaryngol. 2013 Mar 30.
3. Impact of frequent nocturnal hemodialysis on myocardial mechanics and cardiomyocyte gene expression. Chan CT, etal., Circ Cardiovasc Imaging. 2012 Jul;5(4):474-80. doi: 10.1161/CIRCIMAGING.111.971606. Epub 2012 May 30.
4. Effect of cinacalcet on cardiovascular disease in patients undergoing dialysis. Chertow GM, etal., N Engl J Med. 2012 Dec 27;367(26):2482-94. doi: 10.1056/NEJMoa1205624. Epub 2012 Nov 3.
5. Effect of a magnesium-based phosphate binder on medial calcification in a rat model of uremia. De Schutter TM, etal., Kidney Int. 2013 Mar 13. doi: 10.1038/ki.2013.34.
6. New potent calcimimetics: II. Discovery of benzothiazole trisubstituted ureas. Deprez P, etal., Bioorg Med Chem Lett. 2013 Apr 15;23(8):2455-9. doi: 10.1016/j.bmcl.2013.01.077. Epub 2013 Feb 8.
7. Loss-of-function mutations of CYP24A1, the vitamin D 24- hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. Dinour D, etal., J Urol. 2013 Mar 4. pii: S0022-5347(13)03464-2. doi: 10.1016/j.juro.2013.02.3188.
8. Vitamin D Treatment and Mortality in Chronic Kidney Disease: A Systematic Review and Meta-Analysis. Duranton F, etal., Am J Nephrol. 2013 Mar 5;37(3):239-248.
9. The effect of PTH(1-34) on fracture healing during different loading conditions. Ellegaard M, etal., J Bone Miner Res. 2013 Apr 13. doi: 10.1002/jbmr.1957.
10. Dietary phosphate binding and loading alter kidney angiotensin-converting enzyme mRNA and protein content in 5/6 nephrectomized rats. Eraranta A, etal., Am J Nephrol. 2012;35(5):401-8. doi: 10.1159/000337942. Epub 2012 Apr 19.
11. Cardiovascular diseases in older patients with osteoporotic hip fracture: prevalence, disturbances in mineral and bone metabolism, and bidirectional links. Fisher A, etal., Clin Interv Aging. 2013;8:239-56. doi: 10.2147/CIA.S38856. Epub 2013 Feb 25.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Parathyroid hormone gene polymorphism and secondary hyperparathyroidism in hemodialysis patients. Gohda T, etal., Am J Kidney Dis. 2002 Jun;39(6):1255-60.
14. Significance of HCG to distinguish parathyroid carcinoma from benign disease and in adding prognostic information: a hospital based study from Nepal. Gupta SP, etal., Asian Pac J Cancer Prev. 2013;14(1):325-7.
15. Sirolimus induced phosphaturia is not caused by inhibition of renal apical sodium phosphate cotransporters. Haller M, etal., PLoS One. 2012;7(7):e39229. doi: 10.1371/journal.pone.0039229. Epub 2012 Jul 30.
16. A prospective randomized pilot study on intermittent post-dialysis dosing of cinacalcet. Haq N, etal., Int Urol Nephrol. 2013 Mar 26.
17. Role of phytoestrogenic oils in alleviating osteoporosis associated with ovariectomy in rats. Hassan HA, etal., Cytotechnology. 2012 Nov 18.
18. Ferric Citrate Hydrate, a New Phosphate Binder, Prevents the Complications of Secondary Hyperparathyroidism and Vascular Calcification. Iida A, etal., Am J Nephrol. 2013 Mar 23;37(4):346-358.
19. Mutations in the second cytoplasmic loop of the rat parathyroid hormone (PTH)/PTH-related protein receptor result in selective loss of PTH-stimulated phospholipase C activity. Iida-Klein A, etal., J Biol Chem. 1997 Mar 14;272(11):6882-9.
20. Submaximal suppression of parathyroid hormone ameliorates calcitriol-induced aortic calcification and remodeling and myocardial fibrosis in uremic rats. Jung S, etal., J Hypertens. 2012 Nov;30(11):2182-91. doi: 10.1097/HJH.0b013e328357c049.
21. Vitamin D, parathyroid hormone, and cardiovascular events among older adults. Kestenbaum B, etal., J Am Coll Cardiol. 2011 Sep 27;58(14):1433-41. doi: 10.1016/j.jacc.2011.03.069.
22. Parathyroid hormone signaling in bone and kidney. Lee M and Partridge NC, Curr Opin Nephrol Hypertens. 2009 Jul;18(4):298-302. doi: 10.1097/MNH.0b013e32832c2264.
23. Effect of lanthanum carbonate on phosphate control in continuous ambulatory peritoneal dialysis patients in Korea: a randomized prospective study. Lee YK, etal., Clin Nephrol. 2013 Feb;79(2):136-42. doi: 10.5414/CN107362.
24. Association of bone activity, calcium load, aortic stiffness, and calcifications in ESRD. London GM, etal., J Am Soc Nephrol. 2008 Sep;19(9):1827-35. doi: 10.1681/ASN.2007050622. Epub 2008 May 14.
25. The parathyroid hormone receptorsome and the potential for therapeutic intervention. Mahon MJ Curr Drug Targets. 2012 Jan;13(1):116-28.
26. CHRONIC AUTOIMMUNE ATROPHIC GASTRITIS ASSOCIATED WITH PRIMARY HYPERPARATHYROIDISM: A TRANSVERSAL PROSPECTIVE STUDY. Massironi S, etal., Eur J Endocrinol. 2013 Feb 27.
27. Retention of fetuin-A in renal tubular lumen protects the kidney from nephrocalcinosis in rats. Matsui I, etal., Am J Physiol Renal Physiol. 2013 Mar;304(6):F751-60. doi: 10.1152/ajprenal.00329.2012. Epub 2013 Jan 23.
28. The Bone-Protective Effect of Genistein in the Animal Model of Bilateral Ovariectomy: Roles of Phytoestrogens and PTH/PTHR1 Against Post-Menopausal Osteoporosis. Miao Q, etal., Int J Mol Sci. 2012;13(1):56-70. doi: 10.3390/ijms13010056. Epub 2011 Dec 22.
29. The pathophysiology of early-stage chronic kidney disease-mineral bone disorder (CKD-MBD) and response to phosphate binders in the rat. Moe SM, etal., J Bone Miner Res. 2011 Nov;26(11):2672-81. doi: 10.1002/jbmr.485.
30. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
31. Pro-inflammatory cytokines and bone fractures in CKD patients. An exploratory single centre study. Panuccio V, etal., BMC Nephrol. 2012 Oct 9;13:134. doi: 10.1186/1471-2369-13-134.
32. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Parkinson DB and Thakker RV, Nat Genet. 1992 May;1(2):149-52.
33. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
35. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
36. Calcium deficiency reduces circulating levels of FGF23. Rodriguez-Ortiz ME, etal., J Am Soc Nephrol. 2012 Jul;23(7):1190-7. doi: 10.1681/ASN.2011101006. Epub 2012 May 10.
37. Occurrence of cardiovascular calcifications in normal, aging rats. Roosens B, etal., Exp Gerontol. 2012 Aug;47(8):614-9. doi: 10.1016/j.exger.2012.05.012. Epub 2012 May 24.
38. The association of parathyroid hormone with ESRD and pre-ESRD mortality in the Kidney Early Evaluation Program. Saab G, etal., J Clin Endocrinol Metab. 2012 Dec;97(12):4414-21. doi: 10.1210/jc.2012-2001. Epub 2012 Oct 12.
39. Thalidomide suppresses inflammation in adenine-induced CKD with uraemia in mice. Santana AC, etal., Nephrol Dial Transplant. 2013 Jan 22.
40. Mineral metabolites and CKD progression in African Americans. Scialla JJ, etal., J Am Soc Nephrol. 2013 Jan;24(1):125-35. doi: 10.1681/ASN.2012070713. Epub 2012 Dec 14.
41. Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. Segawa H, etal., Am J Physiol Renal Physiol. 2009 Sep;297(3):F671-8. doi: 10.1152/ajprenal.00156.2009. Epub 2009 Jul 1.
42. Phosphorus as an early marker of morbidity and mortality in type 2 chronic kidney disease diabetic patients. Silva AP, etal., J Diabetes Complications. 2013 Mar 22. pii: S1056-8727(13)00053-6. doi: 10.1016/j.jdiacomp.2013.02.007.
43. Relation of vitamin D and parathyroid hormone to cardiac biomarkers and to left ventricular mass (from the Cardiovascular Health Study). van Ballegooijen AJ, etal., Am J Cardiol. 2013 Feb 1;111(3):418-24. doi: 10.1016/j.amjcard.2012.10.021. Epub 2012 Nov 17.
44. Polymorphisms in the vitamin d receptor gene and parathyroid hormone gene in the development and progression of diabetes mellitus and its chronic complications, diabetic nephropathy and non-diabetic renal disease. Vedralova M, etal., Kidney Blood Press Res. 2012;36(1):1-9. doi: 10.1159/000339021. Epub 2012 Jun 18.
45. Osteosarcoma in Sprague-Dawley rats after long-term treatment with teriparatide (human parathyroid hormone (1-34)). Watanabe A, etal., J Toxicol Sci. 2012;37(3):617-29.
46. Two Novel Vitamin D Receptor Modulators with Similar Structures Exhibit Different Hypercalcemic Effects in 5/6 Nephrectomized Uremic Rats. Wu-Wong JR, etal., Am J Nephrol. 2013 Mar 20;37(4):310-319.
47. Mapping the time-dependent effects of paricalcitol on serum calcium, phosphorus and parathyroid hormone levels in 5/6 nephrectomized uremic rats. Wu-Wong JR, etal., Life Sci. 2013 Feb 7;92(2):161-6. doi: 10.1016/j.lfs.2012.11.018. Epub 2012 Dec 19.
48. Cyclooxygenase 2 promotes parathyroid hyperplasia in ESRD. Zhang Q, etal., J Am Soc Nephrol. 2011 Apr;22(4):664-72. Epub 2011 Feb 18.
Additional References at PubMed
PMID:728431   PMID:1125201   PMID:1474331   PMID:1672845   PMID:2069952   PMID:2215618   PMID:3005800   PMID:4474131   PMID:4521809   PMID:4721748   PMID:4833516   PMID:6220408  
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PMID:10623601   PMID:10837469   PMID:10913913   PMID:11278902   PMID:11329013   PMID:11467957   PMID:11551928   PMID:11604398   PMID:11814621   PMID:11918225   PMID:11956184   PMID:11984699  
PMID:12036966   PMID:12195069   PMID:12207101   PMID:12364326   PMID:12369776   PMID:12403624   PMID:12477932   PMID:12490859   PMID:12893275   PMID:12905817   PMID:12914574   PMID:12947048  
PMID:14506618   PMID:14718574   PMID:14730973   PMID:14969386   PMID:15035617   PMID:15070914   PMID:15070925   PMID:15080150   PMID:15186723   PMID:15227728   PMID:15240611   PMID:15297458  
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PMID:20654748   PMID:20808842   PMID:20809279   PMID:20820131   PMID:20872272   PMID:21076856   PMID:21082232   PMID:21178378   PMID:21203493   PMID:21248778   PMID:21306649   PMID:21383630  
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PMID:37664938   PMID:37712273   PMID:37815140  


Genomics

Comparative Map Data
PTH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381113,492,054 - 13,496,181 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1113,492,054 - 13,496,181 (-)EnsemblGRCh38hg38GRCh38
GRCh371113,513,601 - 13,517,728 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361113,470,177 - 13,474,143 (-)NCBINCBI36Build 36hg18NCBI36
Build 341113,470,177 - 13,474,143NCBI
Celera1113,639,772 - 13,643,738 (-)NCBICelera
Cytogenetic Map11p15.3NCBI
HuRef1113,193,715 - 13,197,681 (-)NCBIHuRef
CHM1_11113,512,571 - 13,516,537 (-)NCBICHM1_1
T2T-CHM13v2.01113,584,795 - 13,588,918 (-)NCBIT2T-CHM13v2.0
Pth
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397112,984,783 - 112,987,879 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7112,984,787 - 112,987,777 (-)EnsemblGRCm39 Ensembl
GRCm387113,385,576 - 113,388,672 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7113,385,580 - 113,388,570 (-)EnsemblGRCm38mm10GRCm38
MGSCv377120,529,090 - 120,532,087 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367113,176,759 - 113,179,753 (-)NCBIMGSCv36mm8
Celera7113,358,705 - 113,361,703 (-)NCBICelera
Cytogenetic Map7F1NCBI
cM Map759.19NCBI
Pth
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81176,942,901 - 176,946,034 (-)NCBIGRCr8
mRatBN7.21167,508,121 - 167,511,530 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1167,508,598 - 167,511,530 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1175,843,980 - 175,846,912 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01183,030,070 - 183,033,002 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01175,725,437 - 175,728,369 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01178,215,829 - 178,218,761 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1178,215,829 - 178,218,761 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01185,183,456 - 185,186,388 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41171,240,596 - 171,243,528 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11171,360,529 - 171,363,462 (-)NCBI
Celera1165,378,267 - 165,381,199 (-)NCBICelera
Cytogenetic Map1q33NCBI
Pth
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541428,825,651 - 28,831,117 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541428,828,389 - 28,831,417 (-)NCBIChiLan1.0ChiLan1.0
PTH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2915,932,137 - 15,936,264 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11115,894,484 - 15,898,611 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01113,653,777 - 13,657,901 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11113,347,829 - 13,351,951 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1113,347,838 - 13,351,802 (-)Ensemblpanpan1.1panPan2
PTH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12136,417,062 - 36,419,967 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2136,417,058 - 36,419,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2135,920,892 - 35,923,798 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02137,300,338 - 37,303,244 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2137,300,334 - 37,303,244 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12136,558,731 - 36,561,637 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02136,734,945 - 36,737,853 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02137,024,013 - 37,026,919 (-)NCBIUU_Cfam_GSD_1.0
Pth
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494749,049,606 - 49,050,285 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365285,083,596 - 5,084,030 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365285,081,569 - 5,084,030 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl245,757,398 - 45,760,415 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1245,757,398 - 45,760,433 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2249,290,017 - 49,290,981 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1151,327,555 - 51,330,810 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038148,907,988 - 148,910,728 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pth
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247665,489,800 - 5,492,871 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247665,489,857 - 5,492,777 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTH
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000315.4(PTH):c.86+1G>C single nucleotide variant Familial hypoparathyroidism [RCV000014765] Chr11:13492769 [GRCh38]
Chr11:13514316 [GRCh37]
Chr11:11p15.3		 pathogenic
NM_000315.4(PTH):c.52T>C (p.Cys18Arg) single nucleotide variant Hypoparathyroidism, familial isolated 1 [RCV000014764] Chr11:13492804 [GRCh38]
Chr11:13514351 [GRCh37]
Chr11:11p15.3		 pathogenic
NM_000315.4(PTH):c.67T>C (p.Ser23Pro) single nucleotide variant Hypoparathyroidism, familial isolated 1 [RCV000014766] Chr11:13492789 [GRCh38]
Chr11:13514336 [GRCh37]
Chr11:11p15.3		 pathogenic
NM_000315.4(PTH):c.247C>T (p.Arg83Ter) single nucleotide variant Familial hypoparathyroidism [RCV002221476]|Primary hyperparathyroidism [RCV000014767] Chr11:13492506 [GRCh38]
Chr11:13514053 [GRCh37]
Chr11:11p15.3		 pathogenic|likely pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_000315.4(PTH):c.122A>G (p.Asn41Ser) single nucleotide variant not provided [RCV000054581] Chr11:13492631 [GRCh38]
Chr11:13514178 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.300G>T (p.Glu100Asp) single nucleotide variant not provided [RCV000054582] Chr11:13492453 [GRCh38]
Chr11:13514000 [GRCh37]
Chr11:11p15.3		 uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 copy number loss See cases [RCV000136773] Chr11:9989516..16825806 [GRCh38]
Chr11:10011063..16847353 [GRCh37]
Chr11:9967639..16803929 [NCBI36]
Chr11:11p15.4-15.2		 pathogenic
NM_000315.4(PTH):c.-5-10G>A single nucleotide variant Familial hypoparathyroidism [RCV000289575]|Hypoparathyroidism, familial isolated 1 [RCV001795387]|not specified [RCV000254294] Chr11:13492870 [GRCh38]
Chr11:13514417 [GRCh37]
Chr11:11p15.3		 benign
NM_000315.4(PTH):c.247C>A (p.Arg83=) single nucleotide variant Familial hypoparathyroidism [RCV000334070]|Hypoparathyroidism, familial isolated 1 [RCV001795388]|not provided [RCV001707571]|not specified [RCV000245073] Chr11:13492506 [GRCh38]
Chr11:13514053 [GRCh37]
Chr11:11p15.3		 benign
NM_000315.4(PTH):c.*51A>G single nucleotide variant Familial hypoparathyroidism [RCV000387192] Chr11:13492354 [GRCh38]
Chr11:13513901 [GRCh37]
Chr11:11p15.3		 benign|likely benign
NM_000315.4(PTH):c.276G>A (p.Glu92=) single nucleotide variant Familial hypoparathyroidism [RCV000295300]|not provided [RCV000962112] Chr11:13492477 [GRCh38]
Chr11:13514024 [GRCh37]
Chr11:11p15.3		 benign|likely benign
NM_000315.4(PTH):c.*319A>G single nucleotide variant Familial hypoparathyroidism [RCV000263588]|not provided [RCV001653491] Chr11:13492086 [GRCh38]
Chr11:13513633 [GRCh37]
Chr11:11p15.3		 benign
NM_000315.4(PTH):c.-33C>T single nucleotide variant Familial hypoparathyroidism [RCV000346869] Chr11:13495938 [GRCh38]
Chr11:13517485 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.*55C>T single nucleotide variant Familial hypoparathyroidism [RCV000330399] Chr11:13492350 [GRCh38]
Chr11:13513897 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.86+9T>G single nucleotide variant Familial hypoparathyroidism [RCV000381681]|not provided [RCV000962113] Chr11:13492761 [GRCh38]
Chr11:13514308 [GRCh37]
Chr11:11p15.3		 benign|likely benign
NM_000315.4(PTH):c.-83T>C single nucleotide variant Familial hypoparathyroidism [RCV000390227] Chr11:13495988 [GRCh38]
Chr11:13517535 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.166C>T (p.Arg56Cys) single nucleotide variant not provided [RCV000421942] Chr11:13492587 [GRCh38]
Chr11:13514134 [GRCh37]
Chr11:11p15.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000315.4(PTH):c.177G>A (p.Leu59=) single nucleotide variant not provided [RCV000926883] Chr11:13492576 [GRCh38]
Chr11:13514123 [GRCh37]
Chr11:11p15.3		 likely benign
NM_000315.4(PTH):c.124C>T (p.Leu42=) single nucleotide variant not provided [RCV000904000] Chr11:13492629 [GRCh38]
Chr11:13514176 [GRCh37]
Chr11:11p15.3		 likely benign
GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4 copy number gain not provided [RCV000847116] Chr11:13464883..14872063 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_000315.4(PTH):c.*97A>G single nucleotide variant Familial hypoparathyroidism [RCV001106167] Chr11:13492308 [GRCh38]
Chr11:13513855 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.123C>A (p.Asn41Lys) single nucleotide variant Familial hypoparathyroidism [RCV001108379] Chr11:13492630 [GRCh38]
Chr11:13514177 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.120T>C (p.His40=) single nucleotide variant not provided [RCV000935926] Chr11:13492633 [GRCh38]
Chr11:13514180 [GRCh37]
Chr11:11p15.3		 likely benign
NM_000315.4(PTH):c.191A>G (p.Asn64Ser) single nucleotide variant Familial hypoparathyroidism [RCV001108378] Chr11:13492562 [GRCh38]
Chr11:13514109 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.69G>A (p.Ser23=) single nucleotide variant Familial hypoparathyroidism [RCV001108380] Chr11:13492787 [GRCh38]
Chr11:13514334 [GRCh37]
Chr11:11p15.3		 benign
NM_000315.4(PTH):c.87-50G>A single nucleotide variant not provided [RCV001714777] Chr11:13492716 [GRCh38]
Chr11:13514263 [GRCh37]
Chr11:11p15.3		 benign
NM_000315.4(PTH):c.-5-98G>A single nucleotide variant not provided [RCV001694566] Chr11:13492958 [GRCh38]
Chr11:13514505 [GRCh37]
Chr11:11p15.3		 benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_000315.4(PTH):c.*187_*188del deletion not provided [RCV001535185] Chr11:13492217..13492218 [GRCh38]
Chr11:13513764..13513765 [GRCh37]
Chr11:11p15.3		 benign
NM_000315.4(PTH):c.46_47delinsAA (p.Ala16Lys) indel not provided [RCV001817693] Chr11:13492809..13492810 [GRCh38]
Chr11:13514356..13514357 [GRCh37]
Chr11:11p15.3		 likely pathogenic
NC_000011.9:g.(?_13513952)_(13514402_?)del deletion not provided [RCV003111001] Chr11:13513952..13514402 [GRCh37]
Chr11:11p15.2		 pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_000315.4(PTH):c.196G>A (p.Val66Ile) single nucleotide variant Inborn genetic diseases [RCV002684183] Chr11:13492557 [GRCh38]
Chr11:13514104 [GRCh37]
Chr11:11p15.3		 likely benign
NM_000315.4(PTH):c.211C>T (p.Pro71Ser) single nucleotide variant Inborn genetic diseases [RCV002884747] Chr11:13492542 [GRCh38]
Chr11:13514089 [GRCh37]
Chr11:11p15.3		 likely benign
NM_000315.4(PTH):c.230C>A (p.Ala77Asp) single nucleotide variant Inborn genetic diseases [RCV002759027]|not provided [RCV003738355] Chr11:13492523 [GRCh38]
Chr11:13514070 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.86+4A>T single nucleotide variant not provided [RCV002625575] Chr11:13492766 [GRCh38]
Chr11:13514313 [GRCh37]
Chr11:11p15.3		 likely pathogenic|uncertain significance
NM_000315.4(PTH):c.304G>A (p.Asp102Asn) single nucleotide variant Inborn genetic diseases [RCV002652324] Chr11:13492449 [GRCh38]
Chr11:13513996 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.47C>A (p.Ala16Glu) single nucleotide variant not provided [RCV003050424] Chr11:13492809 [GRCh38]
Chr11:13514356 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.86+4_86+7del microsatellite Hypoparathyroidism, familial isolated 1 [RCV003135159] Chr11:13492763..13492766 [GRCh38]
Chr11:13514310..13514313 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_000315.4(PTH):c.285A>T (p.Glu95Asp) single nucleotide variant Inborn genetic diseases [RCV003375931] Chr11:13492468 [GRCh38]
Chr11:13514015 [GRCh37]
Chr11:11p15.3		 uncertain significance
GRCh37/hg19 11p15.2(chr11:13446803-13696943)x3 copy number gain not provided [RCV003484833] Chr11:13446803..13696943 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_000315.4(PTH):c.98T>A (p.Val33Glu) single nucleotide variant Hypoparathyroidism, familial isolated 1 [RCV003388783] Chr11:13492655 [GRCh38]
Chr11:13514202 [GRCh37]
Chr11:11p15.3		 uncertain significance
NM_001316352.2(PTH):c.-5G>A single nucleotide variant PTH-related condition [RCV003899154] Chr11:13496137 [GRCh38]
Chr11:13517684 [GRCh37]
Chr11:11p15.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:490
Count of miRNA genes:252
Interacting mature miRNAs:263
Transcripts:ENST00000282091, ENST00000529816
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
G44342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,514,290 - 13,514,441UniSTSGRCh37
Build 361113,470,866 - 13,471,017RGDNCBI36
Celera1113,640,461 - 13,640,612RGD
Cytogenetic Map11p15.3-p15.1UniSTS
HuRef1113,194,404 - 13,194,555UniSTS
G60260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,514,222 - 13,514,507UniSTSGRCh37
Build 361113,470,798 - 13,471,083RGDNCBI36
Celera1113,640,393 - 13,640,678RGD
Cytogenetic Map11p15.3-p15.1UniSTS
HuRef1113,194,336 - 13,194,621UniSTS
TNG Radiation Hybrid Map116521.0UniSTS
GDB:186670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,513,877 - 13,514,476UniSTSGRCh37
Build 361113,470,453 - 13,471,052RGDNCBI36
Celera1113,640,048 - 13,640,647RGD
Cytogenetic Map11p15.3-p15.1UniSTS
HuRef1113,193,991 - 13,194,590UniSTS
GDB:197901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,513,981 - 13,514,508UniSTSGRCh37
Build 361113,470,557 - 13,471,084RGDNCBI36
Celera1113,640,152 - 13,640,679RGD
Cytogenetic Map11p15.3-p15.1UniSTS
HuRef1113,194,095 - 13,194,622UniSTS
STS-V00597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,513,888 - 13,514,039UniSTSGRCh37
Build 361113,470,464 - 13,470,615RGDNCBI36
Celera1113,640,059 - 13,640,210RGD
Cytogenetic Map11p15.3-p15.1UniSTS
HuRef1113,194,002 - 13,194,153UniSTS
GeneMap99-GB4 RH Map1152.99UniSTS
PTH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,514,503 - 13,514,785UniSTSGRCh37
GRCh371113,513,980 - 13,514,178UniSTSGRCh37
Build 361113,471,079 - 13,471,361RGDNCBI36
Celera1113,640,674 - 13,640,956RGD
Celera1113,640,151 - 13,640,349UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
HuRef1113,194,094 - 13,194,292UniSTS
HuRef1113,194,617 - 13,194,899UniSTS
GeneMap99-GB4 RH Map1152.79UniSTS
NCBI RH Map1183.9UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 3 3
Medium 1 13 13
Low 123 26 42 7 13 3 25 27 15 3 37 48 4 10 14
Below cutoff 246 86 107 19 47 13 134 83 189 29 193 139 6 43 89

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A29146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA843660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA889450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG188276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX103059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX106232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W52796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000282091   ⟹   ENSP00000282091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,492,054 - 13,495,997 (-)Ensembl
RefSeq Acc Id: ENST00000529816   ⟹   ENSP00000433208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1113,492,099 - 13,496,181 (-)Ensembl
RefSeq Acc Id: NM_000315   ⟹   NP_000306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,492,054 - 13,495,997 (-)NCBI
GRCh371113,513,601 - 13,517,567 (-)ENTREZGENE
Build 361113,470,177 - 13,474,143 (-)NCBI Archive
HuRef1113,193,715 - 13,197,681 (-)ENTREZGENE
CHM1_11113,512,562 - 13,516,537 (-)NCBI
T2T-CHM13v2.01113,584,795 - 13,588,734 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001316352   ⟹   NP_001303281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,492,054 - 13,496,181 (-)NCBI
CHM1_11113,512,562 - 13,516,692 (-)NCBI
T2T-CHM13v2.01113,584,795 - 13,588,918 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000306   ⟸   NM_000315
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q4VB48 (UniProtKB/Swiss-Prot),   Q9UD38 (UniProtKB/Swiss-Prot),   P01270 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001303281   ⟸   NM_001316352
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000282091   ⟸   ENST00000282091
RefSeq Acc Id: ENSP00000433208   ⟸   ENST00000529816

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01270-F1-model_v2 AlphaFold P01270 1-115 view protein structure

Promoters
RGD ID:6850032
Promoter ID:EP30044
Type:single initiation site
Name:HS_PTH_2
Description:Parathyroid hormone,PTH gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 172; Mammalian parathyroid hormone, promoter 2
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2.; see alsoEP30043  
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder; Nuclease protection with homologous sequence ladder; transfected; or transformed cells; Nuclease protection; transfected or transformed cells
Regulation:parathyroid gland; (repressed by or weakly expressed in) Ca (induced by or strongly expressed in) (induced by or strongly expressed in) , (repressed by or weakly expressed in) 1 (repressed by or weakly expressed in) 25OH2D3
Position:
Human AssemblyChrPosition (strand)Source
Build 361113,474,118 - 13,474,178EPD
RGD ID:6850030
Promoter ID:EP30043
Type:single initiation site
Name:HS_PTH_1
Description:Parathyroid hormone, PTH gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 171; Mammalian parathyroid hormone, promoter 1
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1; major promoter.; see alsoEP30044  
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder; Nuclease protection with homologous sequence ladder; transfected; or transformed cells; Nuclease protection; transfected or transformed cells
Regulation:parathyroid gland; (repressed by or weakly expressed in) Ca (induced by or strongly expressed in) (induced by or strongly expressed in) , (repressed by or weakly expressed in) 1 (repressed by or weakly expressed in) 25OH2D3
Position:
Human AssemblyChrPosition (strand)Source
Build 361113,474,148 - 13,474,208EPD
RGD ID:7219703
Promoter ID:EPDNEW_H15596
Type:initiation region
Name:PTH_1
Description:parathyroid hormone
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381113,495,995 - 13,496,055EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9606 AgrOrtholog
COSMIC PTH COSMIC
Ensembl Genes ENSG00000152266 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000282091 ENTREZGENE
  ENST00000282091.6 UniProtKB/Swiss-Prot
  ENST00000529816.1 UniProtKB/Swiss-Prot
GTEx ENSG00000152266 GTEx
HGNC ID HGNC:9606 ENTREZGENE
Human Proteome Map PTH Human Proteome Map
InterPro PTH UniProtKB/Swiss-Prot
  PTH/PTH-rel UniProtKB/Swiss-Prot
KEGG Report hsa:5741 UniProtKB/Swiss-Prot
NCBI Gene 5741 ENTREZGENE
OMIM 168450 OMIM
PANTHER PARATHYROID HORMONE UniProtKB/Swiss-Prot
  PTHR10541 UniProtKB/Swiss-Prot
Pfam Parathyroid UniProtKB/Swiss-Prot
PharmGKB PA33951 PharmGKB
PIRSF PTH UniProtKB/Swiss-Prot
PROSITE PARATHYROID UniProtKB/Swiss-Prot
SMART PTH UniProtKB/Swiss-Prot
UniProt P01270 ENTREZGENE, UniProtKB/Swiss-Prot
  Q4VB48 ENTREZGENE
  Q9UD38 ENTREZGENE
UniProt Secondary Q4VB48 UniProtKB/Swiss-Prot
  Q9UD38 UniProtKB/Swiss-Prot