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PTHLH Gene

protein-coding   GIFtS: 63
GCID: GC12M028111

Parathyroid Hormone-Like Hormone

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

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PTHLH Gene:
The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor,
PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of
the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and
mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript
variants have been found for this gene. There is also evidence for alternative translation initiation from
non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this
hormone. (provided by RefSeq, Nov 2013)

GeneCards Summary for PTHLH Gene:
PTHLH (parathyroid hormone-like hormone) is a protein-coding gene. Diseases associated with PTHLH include humoral hypercalcemia of malignancy, and dysgerminoma. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for PTHLH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • 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 actions1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PTHLH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    PTHLH Human Recombinant Protein Products:

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    Novus Biologicals PTHLH Proteins
    Novus Biologicals PTHLH Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PTHLH 

    PTHLH Antibody Products:

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    Abcam antibodies for PTHLH
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    LSBio Antibodies in human, mouse, rat for PTHLH

    PTHLH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PTHLH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with PTHLH           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity IEA--
    GO:0051428peptide hormone receptor binding IDA19674967
         
    Find genes that share ontologies with PTHLH           About GenesLikeMe


    Phenotypes:
         Selected 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/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  nervous system 

    Find genes that share phenotypes with PTHLH           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PTHLH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    miRTarBase miRNAs that target PTHLH:
    hsa-mir-33a-5p (MIRT035547)

    Block miRNA regulation of human, mouse, rat PTHLH using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PTHLH
    Predesigned siRNA for gene silencing in human, mouse, rat PTHLH

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): PTHLH (NM_002820)
    Sino Biological Human cDNA Clone for PTHLH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PTHLH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTHLH

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PTHLH 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTHLH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PTHR_HUMAN, P12272: Cytoplasm. Nucleus. Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    golgi apparatus4
    cytosol3
    cytoskeleton2
    mitochondrion2
    plasma membrane2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with PTHLH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PTHLH About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Peptide ligand-binding receptors
    GPCR ligand binding0.71
    3ADP signalling through P2Y purinoceptor 12
    Class B/2 (Secretin family receptors)0.36
    4Signaling events mediated by the Hedgehog family
    Signaling events mediated by the Hedgehog family
    5G alpha (s) signalling events
    G alpha (s) signalling events


    Find genes that share SuperPaths with PTHLH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    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


    2 Reactome Pathways for PTHLH
        G alpha (s) signalling events
    Class B/2 (Secretin family receptors)


        Pathway & Disease-focused RT2 Profiler PCR Array including PTHLH: 
              TGFB Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PTHLH

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

    Selected 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): Selected biological process terms (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

    Find genes that share ontologies with PTHLH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with PTHLH           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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
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    Primer
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      Search 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 

    Selected AceView cDNA sequences (see all 62):

    NM_198965 CR541882 BF155666 BI963162 NM_198964 BG680355 CK903432 NM_002820 
    AA453402 NM_198966 M34071 BF447014 T29606 BC005961 BG676028 BG675893 
    AA374372 BX104238 AA746614 AI307292 AI784672 BI752853 AW845113 BT007178 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PTHLH expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 8) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 17 entries
             Chondrocytes Meckel's Cartilage
     
     Bone (Muscoskeletal System)    fully expand to see all 17 entries
             Prehypertrophic Chondrocytes Endochondral Facial Bones
             Zeugopod Epiphyseal End
     
     Head Mesenchyme (Muscoskeletal System)
             Chondrocytes Branchial Arch 2
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Outer Enamel Epithelial Cells Dental Enamel
     
     Epithelial Cells
             Outer Enamel Epithelial Cells Dental Enamel
    PTHLH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PTHLH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591159

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

        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PTHLH gene from Selected species (see all 11)    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
    parathyroid hormone-like hormone
    59(a)
    1 ↔ 1
    5(82759353-82760883)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pthlh1 parathyroid hormone-like hormone 59.39(n)
    46.36(a)
      101732645  XM_004912744.1  XP_004912801.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pthlha1 parathyroid hormone-like hormone a 57.89(n)
    50.88(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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PTHLH (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PTHLH
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • Selected diseases for PTHLH (see all 47):    
    About MalaCards
    humoral hypercalcemia of malignancy    dysgerminoma    apocrine adenocarcinoma    chondroblastoma
    brachydactyly, type e2    invasive malignant thymoma    hematologic cancer    clear cell chondrosarcoma
    sclerosing hepatic carcinoma    jansen's metaphyseal chondrodysplasia    ovarian clear cell adenocarcinoma    osteochondroma
    brachydactyly type e    clear cell adenocarcinoma    villonodular synovitis    pseudohypoparathyroidism type 1b
    ovarian small cell carcinoma    hypercalcemia    islet cell tumor    primary malignant lymphoma

    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

    Find genes that share disorders with PTHLH           About GenesLikeMe

    Selected 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)
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    PubMed articles for PTHLH gene, integrated from 10 sources (see all 1264):
    (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. (J. Biol. Chem. 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. (Bone 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. (Vitam. Horm. 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. (Biochem. Biophys. Res. Commun. 2001)
    5. Deletion and point mutations of PTHLH cause brachydactyly type E. (PubMed id 20170896)1, 2 Klopocki E....Mundlos S. (Am. J. Hum. Genet. 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (J. Bone Miner. Res. 2009)
    8. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    9. Structural basis for parathyroid hormone-related protein binding to the parathyroid hormone receptor and design of conformation-selective peptides. (PubMed id 19674967)1, 2 Pioszak A.A.... Xu H.E. (J. Biol. Chem. 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. (Hum. Mol. Genet. 2009)

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

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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