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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTHLH Gene

protein-coding   GIFtS: 63
GCID: GC12M028111

Parathyroid Hormone-Like Hormone

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Parathyroid Hormone-Like Hormone1 2     HHM2
osteostatin1 2     PTHR2
PLP2 3     Parathyroid Hormone-Like Related Protein2
PTH-rP2 3     Parathyroid Hormone-Related Protein2
PTHRP2 3     PTH-Related Protein2
BDE22 5     PTHrP3
Parathyroid Hormone-Related Protein Preproprotein1     Parathyroid Hormone-Like Protein3

External Ids:    HGNC: 96071   Entrez Gene: 57442   Ensembl: ENSG000000874947   OMIM: 1684705   UniProtKB: P122723   

Export aliases for PTHLH gene to outside databases

Previous GC identifers: GC12M028487 GC12M028138 GC12M028011 GC12M028006 GC12M028002 GC12M027880


(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 PTHLH Gene:
The protein encoded by this gene is a member of the parathyroid hormone family. This hormone regulates
endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands
and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium
to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of
malignancy. Four alternatively spliced transcript variants encoding two distinct isoforms have been observed.
There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame
and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. (provided by RefSeq,
Jul 2008)

GeneCards Summary for PTHLH Gene: 
PTHLH (parathyroid hormone-like hormone) is a protein-coding gene. Diseases associated with PTHLH include ovarian clear cell adenocarcinoma, and dysgerminoma of ovary, and among its related super-pathways are Signaling by GPCR and Glucagon-type ligand receptors. GO annotations related to this gene include hormone activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot: PTHR_HUMAN, P12272
Function: Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development,
migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone
development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth.
Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating
mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this
increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or
autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2
expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By
similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner
through activation of Rac1
Function: Osteostatin is a potent inhibitor of osteoclastic bone resorption

Gene Wiki entry for PTHLH (Parathyroid hormone-related protein) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTHLH gene promoter:
         AP-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PTHLH promoter sequence
   Search SABiosciences Chromatin IP Primers for PTHLH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTHLH


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

Entrez Gene cytogenetic band: 12p12.1-p11.2   Ensembl cytogenetic band:  12p11.22   HGNC cytogenetic band: 12p12.1-p11.2

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M028111:  view genomic region     (about GC identifiers)

Start:
28,111,017 bp from pter      End:
28,125,638 bp from pter
Size:
14,622 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTHR_HUMAN, P12272 (See protein sequence)
Recommended Name: Parathyroid hormone-related protein precursor  
Size: 177 amino acids; 20194 Da
Subunit: PTHrP interacts with PTH1R (via N-terminal extracellular domain)
Subcellular location: Cytoplasm. Nucleus. Secreted
5 PDB 3D structures from and Proteopedia for PTHLH:
1BZG (3D)        1ET3 (3D)        1M5N (3D)        3FFD (3D)        3H3G (3D)    
Secondary accessions: Q15251 Q6FH74
Alternative splicing: 3 isoforms:  P12272-1   P12272-2   P12272-3   

Explore the universe of human proteins at neXtProt for PTHLH: NX_P12272

Explore proteomics data for PTHLH at MOPED 

Post-translational modifications:

  • UniProtKB: There are 3 principal secretory forms, called PTHrP[1-36], PTHrP[38-94], and osteostatin (PTHrP[107-139]) arising
    from endoproteolytic cleavage of the initial translation product. Each of these secretory forms is believed to
    have one or more of its own receptors that mediates the normal paracrine, autocrine and endocrine actions
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12272

  • PTHLH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTHLH Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_002811.1  NP_945315.1  NP_945316.1  NP_945317.1  

    ENSEMBL proteins: 
     ENSP00000441571   ENSP00000441765   ENSP00000441890   ENSP00000440613   ENSP00000379209  
     ENSP00000444519   ENSP00000445157   ENSP00000379213   ENSP00000346398   ENSP00000201015  
    Reactome Protein details: P12272
    Human Recombinant Protein Products for PTHLH: 
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    OriGene Protein Over-expression Lysate for PTHLH
    OriGene MassSpec for PTHLH 
    OriGene Custom Protein Services for PTHLH
    GenScript Custom Purified and Recombinant Proteins Services for PTHLH
    Novus Biologicals PTHLH Proteins
    Novus Biologicals PTHLH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS8641188
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    PTHLH for ontologies           About GeneDecksing



    PTHLH Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PTHLH 

    Assay Products for PTHLH: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ENDOLIG: Endogenous ligands

    2 InterPro protein domains:
     IPR003626 PTH-rel
     IPR001415 PTH/PTH-rel

    Graphical View of Domain Structure for InterPro Entry P12272

    ProtoNet protein and cluster: P12272

    1 Blocks protein domain: IPB001415 Parathyroid hormone

    UniProtKB/Swiss-Prot: PTHR_HUMAN, P12272
    Similarity: Belongs to the parathyroid hormone family


    PTHLH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTHR_HUMAN, P12272
    Function: Neuroendocrine peptide which is a critical regulator of cellular and organ growth, development,
    migration, differentiation and survival and of epithelial calcium ion transport. Regulates endochondral bone
    development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth.
    Required for skeletal homeostasis. Promotes mammary mesenchyme differentiation and bud outgrowth by modulating
    mesenchymal cell responsiveness to BMPs. Upregulates BMPR1A expression in the mammary mesenchyme and this
    increases the sensitivity of these cells to BMPs and allows them to respond to BMP4 in a paracrine and/or
    autocrine fashion. BMP4 signaling in the mesenchyme, in turn, triggers epithelial outgrowth and augments MSX2
    expression, which causes the mammary mesenchyme to inhibit hair follicle formation within the nipple sheath (By
    similarity). Promotes colon cancer cell migration and invasion in an integrin alpha-6/beta-1-dependent manner
    through activation of Rac1
    Function: Osteostatin is a potent inhibitor of osteoclastic bone resorption

         Genatlas biochemistry entry for PTHLH:
    parathyroid hormone-like hormone,expressed by pancreatic islet cells,putatively involved in the regulation of
    insulin secretion

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity IEA--
    GO:0051428peptide hormone receptor binding IDA19674967
         
    PTHLH for ontologies           About GeneDecksing


    Phenotypes:
         15/20 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Pthlh) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 

    PTHLH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTHLH: Pthlhtm1Hmk Pthlhtm1.1Ack Pthlhtm1Fbe

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTHLH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTHLH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTHLH 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTHLH 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTHLH
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate PTHLH (see all 31):
    hsa-miR-376b hsa-miR-106a hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-519a hsa-miR-424 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidPTHLH 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PTHLH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTHLH

    Gene Editing
    Products:
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 4): PTHLH (NM_002820)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTHLH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTHLH
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                         Customized lentivirus expression plasmids for stable overexpression of PTHLH 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTHLH


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTHLH About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.55
    GPCR downstream signaling0.90
    2Prostacyclin signalling through prostacyclin receptor
    Class B/2 (Secretin family receptors)0.36
    G alpha (s) signalling events0.31
    3Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    4Class A/1 (Rhodopsin-like receptors)
    GPCR ligand binding0.71
    5Signaling events mediated by the Hedgehog family
    Signaling events mediated by the Hedgehog family

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for PTHLH
        Development Hedgehog and PTH signaling pathways in bone and cartilage development


    1 GeneGo (Thomson Reuters) Pathway for PTHLH
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    2 BioSystems Pathways for PTHLH
        Endochondral Ossification
    Signaling events mediated by the Hedgehog family


    5/6        Reactome Pathways for PTHLH (see all 6)
        GPCR downstream signaling
    Signal Transduction
    Signaling by GPCR
    GPCR ligand binding
    Class B/2 (Secretin family receptors)



    PTHLH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTHLH

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

    5/75 Interacting proteins for PTHLH (P122723 ENSP000003792134) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARRB1P494073, ENSP000003771414I2D: score=2 STRING: ENSP00000377141
    KPNB1Q149743, ENSP000002901584I2D: score=2 STRING: ENSP00000290158
    CDK2P249413, ENSP000002669704I2D: score=1 STRING: ENSP00000266970
    IL6P052313, ENSP000002587434I2D: score=1 STRING: ENSP00000258743
    KLK3P072883, ENSP000003141514I2D: score=1 STRING: ENSP00000314151
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IDA9008714
    GO:0001958endochondral ossification IEA--
    GO:0002076osteoblast development IEA--
    GO:0007189adenylate cyclase-activating G-protein coupled receptor signaling pathway IDA9832460
    GO:0007267cell-cell signaling TAS2549037

    PTHLH for ontologies           About GeneDecksing



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

    PTHLH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTHLH (PTHR)

    1 HMDB Compound for PTHLH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/115 Novoseek inferred chemical compound relationships for PTHLH gene (see all 115)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 76.4 733 16006777 (7), 18096456 (6), 8156530 (6), 8018531 (5) (see all 99)
    pamidronate 76 23 8099988 (5), 8156530 (3), 1592895 (2), 9660083 (2) (see all 11)
    calcitriol 69.2 44 9459377 (4), 2065286 (3), 9368509 (2), 1480540 (2) (see all 31)
    pck-3145 66.6 5 16222145 (3), 15289344 (1)
    eb 1089 65.3 17 19584236 (4), 9099905 (3), 10416587 (3), 7756673 (3) (see all 7)
    1,25 dihydroxy vitamin d3 62.4 41 16794368 (4), 8462465 (2), 8359229 (2), 17904173 (2) (see all 24)
    vitamin d 57 37 7923831 (2), 10646127 (2), 9368509 (2), 8393873 (1) (see all 25)
    cyclic amp 56.5 42 8312363 (3), 8319205 (3), 2108793 (2), 8328312 (2) (see all 26)
    adenosine 3',5'-cyclic monophosphorothioate 56.4 2 11415993 (1), 10203364 (1)
    22-oxacalcitriol 56.2 5 8688322 (1), 10646127 (1), 7798277 (1)

    Search CenterWatch for drugs/clinical trials and news about PTHLH / PTHR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTHLH gene (4 alternative transcripts): 
    NM_002820.2  NM_198964.1  NM_198965.1  NM_198966.1  

    Unigene Cluster for PTHLH:

    Parathyroid hormone-like hormone
    Hs.591159  [show with all ESTs]
    Unigene Representative Sequence: J03580
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000539239 ENST00000545234 ENST00000538310 ENST00000535992 ENST00000395868(uc001rim.3)
    ENST00000542963 ENST00000534890 ENST00000395872(uc001rik.3 uc001ril.3)
    ENST00000354417 ENST00000201015(uc001rin.3)
    miRNA
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    hsa-miR-376b hsa-miR-106a hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-519a hsa-miR-424 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidPTHLH 3' UTR sequence
    Inhib. RNA
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTHLH

    Additional mRNA sequence: 

    AK313476.1 BC005961.1 BT007178.1 CR541882.1 J03580.1 J03802.1 M26958.1 M26959.1 

    9 DOTS entries:

    DT.40297109  DT.100745590  DT.101979164  DT.91712557  DT.95270704  DT.95270703  DT.121164115  DT.121164170 
    DT.95270705 

    24/62 AceView cDNA sequences (see all 62):

    NM_002820 BI963162 BF155666 CR541882 AA453402 BF447014 NM_198965 CK903432 
    BG680355 NM_198966 NM_198964 M34071 BG679319 M26958 T29606 BG680295 
    BI752853 AA746614 AI307292 BG676028 AA374372 AA158170 BX104238 BI964811 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PTHLH    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8
    SP1:              -     -                 -                                             
    SP2:                                      -                             -               
    SP3:                    -                 -                                             
    SP4:                                                                                    


    ECgene alternative splicing isoforms for PTHLH

    (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

    PTHLH expression in normal human tissues (normalized intensities)      PTHLH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAATAAC
    PTHLH Expression
    About this image


    PTHLH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 44 entries
             Disc Progenitors Temporomandibular Joint
     
     Bone (Muscoskeletal System)    fully expand to see all 42 entries
             Prehypertrophic Chondrocytes Autopod Growth Plate
             Zeugopod Epiphyseal End
     
     Epithelium
             Human Prostate Epithelial Cells (HPrEpiC)   
             breast epithelium   
     
     Lung (Respiratory System)    fully expand to see all 5 entries
             Basal Cells Respiratory Bronchioles
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   
     
     Breast (NULL)    fully expand to see all 2 entries
             Human Mammary Epithelial Cells (HMEpiC)   
             breast epithelium   

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

    SOURCE GeneReport for Unigene cluster: Hs.591159

    UniProtKB/Swiss-Prot: PTHR_HUMAN, P12272
    Tissue specificity: Ubiquitous. Also expressed in the mammary gland

        SABiosciences Expression via Pathway-Focused PCR Array including PTHLH: 
              TGFB Signaling Targets in human mouse rat

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    (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 PTHLH gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pthlh1 , 5 parathyroid hormone-like peptide1, 5 83.43(n)1
    86.86(a)1
      6 (78.19 cM)5
    192271  NM_008970.31  NP_032996.21 
     1472521015 
    chicken
    (Gallus gallus)
    Aves PTHLH1 parathyroid hormone-like hormone 72.19(n)
    75.15(a)
      396281  NM_001174106.1  NP_001167577.1 
    lizard
    (Anolis carolinensis)
    Reptilia PTHLH6
    Uncharacterized protein
    59(a)
    1 ↔ 1
    5(82759353-82760883)
    zebrafish
    (Danio rerio)
    Actinopterygii pthlh1 parathyroid hormone-like hormone 57.11(n)
    51.05(a)
      554221  NM_001024627.2  NP_001019798.2 


    ENSEMBL Gene Tree for PTHLH (if available)
    TreeFam Gene Tree for PTHLH (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, 4UniProtKB, 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

    10/376 SNPs in PTHLH are shown (see all 376)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637114
    Brachydactyly E2 (BDE2)4--see VAR_0637112 L P mis40--------
    VAR_0637124
    Brachydactyly E2 (BDE2)4--see VAR_0637122 L P mis40--------
    VAR_0364334
    A breast cancer sample4--see VAR_0364332 S T mis40--------
    rs724967441,2
    C--27883628(+) TATAT-/TATACG
            
    ATATA
    2 -- cds10--------
    rs30324421,2
    C--27883629(+) atata-/CG    
       
    /TACG
    tatat
    2 -- int10--------
    rs30324441,2
    C--27883639(+) atacaC/Tgtata 2 -- int10--------
    rs110492441,2
    A--27895213(+) CCCTCC/GCCCCC 2 -- us2k1 tfbs3 trp30--------
    rs2010553731,2
    C--27895213(+) CCTCC-/CGCCCCC 2 -- us2k10--------
    rs1851671771,2
    --27895215(+) CTCCCA/CCCCCC 2 -- us2k10--------
    rs1910175601,2
    --27978014(+) TTTCTA/CCTTTC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for PTHLH (28111017 - 28125638 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PTHLH: --

    Human Gene Mutation Database (HGMD): PTHLH
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for PTHLH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 168470   
    OMIM disorders: 613382  
    UniProtKB/Swiss-Prot: PTHR_HUMAN, P12272
  • Brachydactyly E2 (BDE2) [MIM:613382]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and
    metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same
    family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of
    metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle
    phalanges. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/168 diseases for PTHLH (see all 168):    About MalaCards
    ovarian clear cell adenocarcinoma    dysgerminoma of ovary    invasive malignant thymoma    dysgerminoma
    sclerosing hepatic carcinoma    clear cell chondrosarcoma    juxtacortical chondroma    brachydactyly, type e2
    chondroblastoma    hematologic cancer    hypercalcemia    jansen's metaphyseal chondrodysplasia
    ovarian small cell carcinoma    clear cell adenocarcinoma    apocrine adenocarcinoma    calciphylaxis
    brachydactyly type e    parathyroid disorders    adult t-cell leukemia    lung squamous cell carcinoma

    10 diseases from the University of Copenhagen DISEASES database for PTHLH:
    Hypercalcemia     Hyperparathyroidism     Carcinoma     Adult T-cell leukemia
    Metaphyseal dysplasia     Hypophosphatemia     Breast cancer     Osteoporosis
    Leydig cell tumor     Ollier disease

    PTHLH for disorders           About GeneDecksing

    10/94 Novoseek inferred disease relationships for PTHLH gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercalcemia 96.7 1445 1424212 (6), 8453901 (6), 10660809 (6), 1434529 (5) (see all 99)
    osteolytic 84.2 100 8833902 (4), 16813525 (3), 10898330 (3), 7754638 (2) (see all 56)
    bone metastases 81.1 142 1782489 (7), 10861577 (7), 19139120 (5), 11741801 (5) (see all 50)
    paraneoplastic syndromes 78.5 28 11911944 (1), 14613038 (1), 16022632 (1), 7768974 (1) (see all 18)
    hyperparathyroidism primary 72.1 25 1424212 (2), 1449040 (2), 2056982 (2), 8060769 (2) (see all 18)
    osteolysis 71.6 34 10898332 (2), 11701443 (2), 11996903 (2), 16885353 (2) (see all 21)
    bone destruction 70.1 21 9362422 (2), 9362421 (1), 10548524 (1), 8833902 (1) (see all 17)
    tumors 60.6 772 11893937 (7), 7754638 (6), 19952062 (6), 8004587 (6) (see all 99)
    metastasis 59.9 238 9362424 (8), 14696114 (5), 8003863 (5), 8752176 (4) (see all 99)
    pseudohypoparathyroidism, type ib 59.4 1 9100569 (1)

    Genetic Association Database (GAD): PTHLH
    Human Genome Epidemiology (HuGE) Navigator: PTHLH (9 documents)

    Export disorders for PTHLH 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 PTHLH gene, integrated from 9 sources (see all 1254):
    (articles sorted by number of sources associating them with PTHLH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human parathyroid hormone-like peptide gene. Functional and evolutionary aspects. (PubMed id 2708388)1, 2, 3 Yasuda T.... Goltzman D. (1989)
    2. Genetic variation in the PTH pathway and bone phenotypes in elderly women: evaluation of PTH, PTHLH, PTHR1 and PTHR2 genes. (PubMed id 18280230)1, 4, 9 Tenne M....Akesson K. (2008)
    3. Parathyroid hormone-related protein (PTHrP): a nucleocytoplasmic shuttling protein with distinct paracrine and intracrine roles. (PubMed id 12852260)1, 2, 9 Jans D.A.... Gillespie M.T. (2003)
    4. Molecular dissection of the importin beta1-recognized nuclear targeting signal of parathyroid hormone-related protein. (PubMed id 11401507)1, 2, 9 Lam M.H.... Jans D.A. (2001)
    5. Deletion and point mutations of PTHLH cause brachydac tyly type E. (PubMed id 20170896)1, 2 Klopocki E....Mundlos S. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)
    8. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)
    9. Structural basis for parathyroid hormone-related prot ein binding to the parathyroid hormone receptor and design of conformation-sele ctive peptides. (PubMed id 19674967)1, 2 Pioszak A.A....Xu H.E. (2009)
    10. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. (PubMed id 19304784)1, 4 Song H....Pharoah P.D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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)
    About This Section
    Entrez Gene: 5744 HGNC: 9607 AceView: PTHLH Ensembl:ENSG00000087494 euGenes: HUgn5744
    ECgene: PTHLH H-InvDB: PTHLH

    (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
    NameDescription
    PharmGKB entry for PTHLH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTHLH Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTHLH gene:
    Search GeneIP for patents involving PTHLH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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