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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PTH Gene

protein-coding GIFtS: 66
GCID: GC11M013470

parathyroid hormone

Explore 116 diseases affiliated with
PTH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Parathyroid Hormone¹ ²		Parathyroid Hormone 1²
PTH1¹ ²		Parathormone³
Parathormone³		Parathyrin³
Parathyrin³

External Ids:	HGNC: 9606¹	Entrez Gene: 5741²	Ensembl: ENSG00000152266⁷	OMIM: 168450⁵	UniProtKB: P01270³

Export aliases for PTH gene to outside databases

Previous GC identifers: GC11M014784 GC11M014262 GC11M013552 GC11M013477 GC11M013193

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PTH:

The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by

dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial

isolated hypoparathyroidism (FIH). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270

Function: PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates

[1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells

Gene Wiki entry for PTH (Parathyroid hormone)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_009237.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PTH gene promoter:
TBP AP-1 Pax-6 ATF-2 Tal-1beta C/EBPalpha E47 TFIID c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PTH promoter sequence

Search SABiosciences Chromatin IP Primers for PTH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.3-p15.1 Ensembl cytogenetic band: 11p15.2 HGNC cytogenetic band: 11p15.3-p15.1

PTH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTH gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M013470: view genomic region (about GC identifiers)

Start:	13,513,601 bp from pter	End:	13,517,728 bp from pter
Size:	4,128 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270 (See protein sequence)

Recommended Name: Parathyroid hormone precursor

Size: 115 amino acids; 12861 Da

Subunit: Interacts with PTH1R (via N-terminal extracellular domain)

Subcellular location: Secreted

6/15 PDB 3D structures from and Proteopedia for PTH (see all 15):

1BWX (3D)

1ET1 (3D)

1ET2 (3D)

1FVY (3D)

1HPH (3D)

1HPY (3D)

Secondary accessions: Q4VB48 Q9UD38

Explore the universe of human proteins at neXtProt for PTH: NX_P01270

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01270

PTH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000306.1

ENSEMBL proteins:

ENSP00000282091 ENSP00000433208

Reactome Protein details: P01270
Human Recombinant Protein Products:

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	Uscn Proteins for PTH

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IEA	--

PTH for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PTH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PTH for domains About GeneDecksing

2 InterPro domains/families:

IPR003625 PTH

IPR001415 PTH/PTH-rel

Graphical View of Domain Structure for InterPro Entry P01270

ProtoNet protein and cluster: P01270

1 Blocks protein family: IPB001415 Parathyroid hormone

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270

Similarity: Belongs to the parathyroid hormone family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270

Function: PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates

[1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells

Genatlas biochemistry entry for PTH:

parathyroid hormone,9.5kDa,formed from a 12.5kDa precursor

Summary:

During embryonic development, PTH as signaling molecule is secreted from the following cells: Chief Cells Of Parathyroid in Parathyroid It affects the following cells: Endochondral Osteoblasts in Endochondral Facial Bones, Endochondral Osteoblasts in Rostral Endochondral Facial Bones (see all 22).

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTH
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PTH (see all 11):
		hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-103a hsa-miR-424 hsa-miR-186 hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: PTH 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IMP	17696759
GO:0005179	hormone activity	IEA	--
GO:0031856	parathyroid hormone receptor binding	IEA	--
GO:0051428	peptide hormone receptor binding	IDA	19674967

PTH for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Pth^tm1Dgo for PTH
     9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pth):

cardiovascular system	craniofacial	endocrine/exocrine gland	growth/size	hematopoietic system
immune system	limbs/digits/tail	mortality/aging	skeleton

PTH for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Transcription_Role of VDR in regulation of genes involved in osteoporosis

Transcription_Role of VDR in regulation of genes involved in osteoporosis

1.00

Transcription Role of VDR in regulation of genes involved in osteoporosis

0.80

Development_Hedgehog and PTH signaling pathways in bone and cartilage development

Development_Hedgehog and PTH signaling pathways in bone and cartilage development

1.00

Development Hedgehog and PTH signaling pathways in bone and cartilage development

0.97

G beta:gamma signalling through PLC beta

Class B/2 (Secretin family receptors)

0.20

G alpha (s) signalling events

0.14

Osteoblast Signaling

Osteoblast Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for PTH

	Development Hedgehog and PTH signaling pathways in bone and cartilage development
	Transcription Role of VDR in regulation of genes involved in osteoporosis

2 GeneGo (Thomson Reuters) Pathways for PTH

	Development Hedgehog and PTH signaling pathways in bone and cartilage development
	Transcription Role of VDR in regulation of genes involved in osteoporosis

3 BioSystems Pathways for PTH

	Vitamin D synthesis
	Endochondral Ossification
	Osteoblast Signaling

5/6 Reactome Pathways for PTH (see all 6)

	GPCR downstream signaling
	Signal Transduction
	Signaling by GPCR
	GPCR ligand binding
	Class B/2 (Secretin family receptors)

PTH for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PTH

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/67 Interacting proteins for PTH (P01270^{2, 3} ENSP00000282091⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 67)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BAG6	P46379²^,³	MINT-63346 I2D: score=5
FEZ1	Q99689²^,³	MINT-63345 I2D: score=5
PTH1R	Q03431³, ENSP00000321999⁴	I2D: score=2 STRING: ENSP00000321999
PTH2R	P49190³, ENSP00000272847⁴	I2D: score=2 STRING: ENSP00000272847
MEP1A	Q16819³, ENSP00000230588⁴	I2D: score=2 STRING: ENSP00000230588

About this table

Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	17696759
GO:0001501	skeletal system development	TAS	10913913
GO:0006874	cellular calcium ion homeostasis	NAS	--
GO:0007186	G-protein coupled receptor signaling pathway	TAS	7797535
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IEA	--

PTH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PTH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PTH

1 HMDB Compound for PTH About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 DrugBank Compound for PTH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Norleucine	--	--	target	--	--

10/51 Novoseek chemical compound relationships for PTH gene (see all 51) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
25-hydroxyvitamin d	76.4	26	9435366 (2), 10672132 (1), 11388078 (1), 16807549 (1) (see all 22)
vitamin d	74.5	56	8891962 (4), 17854393 (3), 11705321 (3), 17368185 (3) (see all 36)
calcitriol	72.5	31	10988200 (3), 12213894 (3), 10720039 (2), 9730564 (1) (see all 23)
calcium	71.4	337	9768650 (7), 7705374 (5), 1291861 (5), 20032048 (5) (see all 99)
deoxypyridinoline	66.3	15	18004084 (2), 14555415 (1), 19158198 (1), 18999899 (1) (see all 11)
1,25 dihydroxy vitamin d3	65.7	10	9626120 (2), 10077002 (1), 12788900 (1), 17293108 (1) (see all 9)
doxercalciferol	55	3	16282676 (3)
phosphorus	54.7	46	8647946 (8), 15486872 (3), 19463763 (3), 16160737 (2) (see all 17)
procollagen	50.5	13	16352693 (2), 12788900 (1), 12381951 (1), 15049968 (1) (see all 7)
forskolin	48.4	16	12209875 (4), 2175562 (1), 18450967 (1), 9572838 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about PTH / PTHY

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PTH gene:

NM_000315.2

Unigene Cluster for PTH:

Parathyroid hormone

Hs.37045 [show with all ESTs]

Unigene Representative Sequence: NM_000315

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000282091(uc001mlb.3) ENST00000529816

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTH
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate PTH (see all 11):
		hsa-miR-15a hsa-miR-503 hsa-miR-497 hsa-miR-646 hsa-miR-103a hsa-miR-424 hsa-miR-186 hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: PTH 3' UTR sequence

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Additional cDNA sequence:

BC096142.1 BC096143.1 BC096144.3 BC096145.1 V00597.1

1 DOTS entry:

DT.318355

24/100 AceView cDNA sequences (see all 100):

AA037414 AA888818 AI092021 W39202 W56886 N89821 AI050896 N90261

W37306 NM_000315 AI457923 W37708 BX106232 AA845431 AA855144 AA843660

AI051997 W32283 BX103059 W56235 AA372113 W32526 N91351 AA846633

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PTH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCTAATTC

About this image

PTH expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Thyroid

Parathyroid

Chief Cells Of Parathyroid

NULL

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PTH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PTH

SOURCE GeneReport for Unigene cluster: Hs.37045

SABiosciences Expression via Pathway-Focused PCR Array including PTH:

Apoptosis 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PTH gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pth^{1 , 5}	parathyroid hormone^{1, 5}	78.55(n)¹ 67.83(a)¹		7 (59.19 cM)⁵ 19226¹ NM_020623.2¹ NP_065648.1¹ 113385576⁵
chicken (Gallus gallus)	Aves	PTH¹	parathyroid hormone	66.67(n) 55.24(a)		396436 NM_205452.2 NP_990783.1

ENSEMBL Gene Tree for PTH (if available)
TreeFam Gene Tree for PTH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894271^1,2	C	pathogenic	88037617(-)	`CAATTC/TGTTTT`	2	R C	mis¹		0	--	--	--	--
rs6256^1,2	C,F,A,H,	pathogenic	88037915(-)	`GGCCCA/C/TGAAAA`	3	R *	syn¹ stg¹ ese³		23		MN NA NS EA WA EU	7824
rs78336627^1,2	F,	--	13193249(+)	`TAGGCC/TGCATG`	1	--	ds500¹		1		NA	120
rs58315198^1,2	C,	--	13193254(+)	`CGCATG/ATAGAC`	1	--	ds500¹		2		WA	120
rs58399136^1,2	C,	--	13193313(+)	`GTACAC/TGACAA`	1	--	ds500¹		2		WA	120
rs60665800^1,2	C,F,	--	13193364(+)	`ATGAAT/CGAAAT`	1	--	ds500¹		4		WA CSA	123
rs117223787^1,2	C,F,	--	13193491(+)	`NNNNCC/TTTTTT`	1	--	ds500¹		1		NA	120
rs16912873^1,2	C,F,H,	--	13193747(+)	`ACTTAT/CGATCA`	1	--	ut3¹ ese³		18		NA NS EA WA CSA	1636
rs186788473^1,2	C,	--	13194933(+)	`AATTCC/TTAATT`	1	--	int¹		0	--	--	--	--
rs11329839^1,2		--	13196214(+)	`ATGTT-/CTGCAA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PTH (13513601 - 13517728 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PTH: --
Human Gene Mutation Database (HGMD): PTH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PTH

DNA2.0 Custom Variant and Variant Library Synthesis for PTH

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PTH for disorders           About GeneDecksing

OMIM gene information: 168450
OMIM disorders: 146200
UniProtKB/Swiss-Prot: PTHY_HUMAN, P01270

Defects in PTH are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]; also called autosomal

dominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia and

hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. FIH

exist both as autosomal dominant and recessive forms of hypoparathyroidism

20/116 diseases for PTH (see all 116): About MalaCards

ossification of posterior longitudinal ligament of spine hypoparathyroidism vitamin d-dependent rickets type ii pseudohypoparathyroidism type ib

osteitis fibrosa jansen's metaphyseal chondrodysplasia hypoparathyroidism, autosomal dominant hypoparathyroidism, autosomal recessive

high blood pressure metaphyseal chondrodysplasia end stage renal failure albright's hereditary osteodystrophy

multiple endocrine neoplasia hypoparathyroidism familial isolated oncogenic osteomalacia osteoporosis, postmenopausal

pseudohypoparathyroidism hypervitaminosis d hypocalciuric hypercalcemia familial isolated hyperparathyroidism

20/32 diseases from the University of Copenhagen DISEASES database for PTH (see all 32):

Hyperparathyroidism Hypercalcemia Osteoporosis Parathyroid adenoma

Hypoparathyroidism Kidney failure Hyperphosphatemia Renal osteodystrophy

Pseudohypoparathyroidism Osteomalacia Osteitis fibrosa Hypophosphatemia

Parathyroid carcinoma Adenoma Rickets Calcinosis

Nephrolithiasis X-linked hypophosphatemia Metabolic acidosis Hypertension

10/53 Novoseek disease relationships for PTH gene (see all 53) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperparathyroidism secondary	81.4	23	17854393 (2), 12940896 (2), 12753275 (2), 15332221 (2) (see all 13)
hypercalcemia	80.8	58	1849762 (4), 16077176 (4), 1993319 (3), 10660809 (3) (see all 35)
hyperparathyroidism primary	80.5	31	16491288 (3), 1689222 (2), 8369362 (2), 10468923 (2) (see all 20)
parathyroid adenoma	79.5	17	2199477 (2), 10704427 (2), 8626826 (1), 15775480 (1) (see all 11)
hyperparathyroidism	74.5	16	16263810 (1), 9730564 (1), 1643722 (1), 7903311 (1) (see all 13)
hypoparathyroidism	69.6	14	9768650 (3), 1993319 (2), 7752497 (1), 17721071 (1) (see all 7)
pseudohypoparathyroidism, type ib	69.6	1	10971097 (1)
hyperphosphatemia	69	6	17178702 (2), 10620210 (1), 12940896 (1), 12753275 (1) (see all 5)
renal osteodystrophy	69	3	10077343 (2), 8258962 (1)
bone diseases	61.8	8	8671970 (4), 10620210 (1), 18587716 (1), 11277262 (1) (see all 5)

Genatlas disease: PTH

hypoparathyroidism,familial,isolated,dominant and recessive types

Genetic Association Database (GAD): PTH
Human Genome Epidemiology (HuGE) Navigator: PTH (112 documents)
Tumor Gene Database (TGDB): PTH

Export disorders for PTH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PTH gene, integrated from 9 sources (see all 545):
(articles sorted by number of sources associating them with PTH)

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[Polymorphism of parathyroid hormone gene and its association with bone mineral density of Han nationality women in Beijing area] (PubMed id 12905817)^{1, 4, 9} Li M....Xing X.P. (2001)
Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies. (PubMed id 1672845)^{1, 3, 9} Tonoki H....Niikawa N. (1991)
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. (PubMed id 18056632)^{1, 2} Datta R....Sly W.S. (2007)
Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women. (PubMed id 16362385)^{1, 4} Koshizuka Y....Kawaguchi H. (2006)
Bone mineral density and five prominent candidate genes in Chinese men: associations, interaction effects and their implications. (PubMed id 15917161)^{1, 4} Lei S.F....Deng H.W. (2005)
[Effects of parathyroid hormone gene polymorphism on cardiovascular mortality] (PubMed id 16272640)^{1, 4} Tsujimoto Y....Nishizawa Y. (2005)
Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bone mass. (PubMed id 16117875)^{1, 4} Dvornyk V....Deng H.W. (2005)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Differentiation of Caucasians and Chinese at bone mass candidate genes: implication for ethnic difference of bone mass. (PubMed id 12914574)^{1, 4} Dvornyk V....Deng H.W. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5741	HGNC: 9606	AceView: PTH	Ensembl:ENSG00000152266	euGenes: HUgn5741
ECgene: PTH	H-InvDB: PTH

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PTH	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Parathyroid_hormone

Intellectual Property for PTH gene
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Patent Information for PTH gene:
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Osteitis fibrosa
Spondylitis Ankylosing
Hypocalcemia
parathyroid hyperplasia
Hyperplasia
Malabsorption
MEN 2a
metabolic alkalosis
Carcinoma
CALCIUM DEFICIENCY
Hyperparathyroidism
PARATHYROID ADENOMA
Bone Diseases
PARATHYROID CARCINOMA
Breast Cancer
Osteosarcoma
Osteoporosis
Dwarfism
Vitamin D Deficiency
Hyperparathyroidism Secondary
Allelic Loss
Calcification
Rickets
Cancer
Hypophosphatemia
Nephrolithiasis
PSEUDOHYPOPARATHYROIDISM, TYPE IB
Uremia
HYPERPHOSPHATEMIA
bone loss
RENAL DISEASE
Osteolysis
Hypercalcemia
Adenoma
Osteoporosis Postmenopausal
hyperfunction
osteolytic
HYPERPARATHYROIDISM PRIMARY
Hypoparathyroidism
Multiple Endocrine Neoplasia Type 1
Pseudohypoparathyroidism
Renal Failure
Parathyroid Cancer
Chromosomal Aberrations
Tumors
Cardiovascular Diseases
Renal Osteodystrophy
Cholera
Necrosis
genetic disorder
hypercalciuria
Parathyroid Diseases
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PTH Gene

parathyroid hormone

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