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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
 Explore 193 diseases affiliated with
PTHLH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PTHLH    

Aliases
for PTHLH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Parathyroid Hormone-Like Hormone1 2     Osteostatin1
PLP1 2 3     Parathyroid Hormone-Like Related Protein2
PTHRP1 2 3     Parathyroid Hormone-Related Protein2
HHM1 2     PTH-Related Protein2
PTHR1 2     PTHrP3
PTH-RP1     Parathyroid Hormone-Like Protein3
BDE22 5     

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


Summaries
for PTHLH gene

(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:
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)

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)


Genomic Views
for PTHLH 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
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

Proteins
for PTHLH gene

(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: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12272

    • PTHLH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins (see all 2): PTHLH
    OriGene Protein Over-expression Lysate (see all 5): 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 ProSpec Recombinant Proteins
    Uscn Proteins for PTHLH

    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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    ThermoFisher Antibodies for PTHLH

    Assay Products for PTHLH: 
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    Uscn ELISAs and CLIAs for PTHLH

    Protein Domains /
    Families
    for PTHLH gene

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

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

    Graphical View of Domain Structure for InterPro Entry P12272

    ProtoNet protein and cluster: P12272

    1 Blocks protein family: IPB001415 Parathyroid hormone

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


    Function
    for PTHLH gene

    (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: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    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 plasmid: PTHLH 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTHLH (see all 7)
    OriGene shRNA RFP: PTHLH
    OriGene siRNA: PTHLH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTHLH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PTHLH

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTHLH (see all 6)
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    GenScript: all cDNA clones in your preferred vector (see all 4): PTHLH (NM_002820)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PTHLH 

    Cell Line
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    Search LifeMap BioReagents cell lines for PTHLH

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

    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


    Animal Models:
         Mouse knock-outs for PTHLH: Pthlhtm1Hmk Pthlhtm1.1Ack Pthlhtm1Fbe
         15/20 MGI mutant phenotypes (inferred from 6 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


    Pathways & Interactions
    for PTHLH gene

    (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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by GPCR
    		Signaling by GPCR1.00
    		Signal Transduction0.56
    		GPCR downstream signaling0.89
    2Development_Hedgehog and PTH signaling pathways in bone and cartilage development
    		Development_Hedgehog and PTH signaling pathways in bone and cartilage development1.00
    		Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    3G beta:gamma signalling through PLC beta
    		Class B/2 (Secretin family receptors)0.20
    		G alpha (s) signalling events0.14
    4Endochondral Ossification
    		Endochondral Ossification1.00
    5Signaling events mediated by the Hedgehog family
    		Signaling events mediated by the Hedgehog family1.00

    Pathway sources
    See GeneCards unified pathways
    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



    Drugs & Compounds
    for PTHLH gene

    (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

    PTHLH for compounds           About GeneDecksing

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

    Browse Tocris compounds for PTHLH

    1 HMDB Compound for PTHLH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/115 Novoseek 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 

    Transcripts
    for PTHLH gene

    (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 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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    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 plasmid: PTHLH 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTHLH (see all 7)
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    Clone
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    Primer
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      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTHLH

    Additional cDNA 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):

    BI963162 BF155666 AA453402 CR541882 BF447014 NM_198964 CK903432 M34071 
    NM_198966 NM_198965 NM_002820 BG680355 BG678818 J03580 BG679319 T29606 
    AI307292 AI784672 AA374372 AI591151 BG675893 BG676028 BX104238 M26958 

    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

    Expression
    for PTHLH gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAAATAAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PTHLH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/46 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 46) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesHypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesHypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesHypertrophic ChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneStylopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    BoneZeugopod Growth PlatePrehypertrophic ChondrocytesBone, Cartilage
    CartilageMeckel's CartilageChondrocytesCartilage
    CartilageRostral SynchondrosesChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)

    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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    In Situ
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    Orthologs
    for PTHLH gene

    (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
    		 --
    		 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
    for PTHLH gene

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

    Genomic Variants
    for PTHLH gene

    (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

    10/295 NCBI SNPs in PTHLH are shown (see all 295)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs62511,2
    		F--27880555(-) CTTGGT/GGCTGC 2 -- ut312Minor allele frequency- G:0.01MN 268
    rs62491,2
    		C--27880556(-) TCTTGG/TTGCTG 2 -- ut314Minor allele frequency- T:0.01MN NA 272
    rs760159011,2
    		F,--27881021(+) GCAGGG/ATCTTC 2 -- int11Minor allele frequency- A:0.03EA 120
    rs125806731,2
    		H--27881237(+) GACACA/CTGAAT 2 -- int10--------
    rs732619781,2
    		C,F,--27881522(+) TCACTC/GTGTTG 2 -- int13Minor allele frequency- G:0.06WA CSA 122
    rs768253361,2
    		C,F,--27881900(+) ACAAAG/ACAGCA 2 -- int11Minor allele frequency- A:0.09EA 120
    rs1151622661,2
    		C,F,--27882021(+) GGGAAT/CGTTAA 2 -- int11Minor allele frequency- C:0.09WA 118
    rs758021901,2
    		--27882102(+) TGATAT/CGAATA 2 -- int11Minor allele frequency- C:0.01WA 118
    rs730940371,2
    		--27882638(+) GTTCAC/TGTGAG 2 -- int10--------
    rs9861,2
    		F--27884033(-) GTGGCA/TCTAGA 2 -- int11Minor allele frequency- T:0.02MN 184

    HapMap Linkage Disequilibrium report for PTHLH (28111017 - 28125638 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PTHLH: --
    Human Gene Mutation Database (HGMD): PTHLH

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    Disorders / Diseases
    for PTHLH gene

    (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
    PTHLH for disorders           About GeneDecksing

    OMIM gene information: 168470   
    OMIM disorders: 613382  
    UniProtKB/Swiss-Prot: PTHR_HUMAN, P12272
  • Defects in PTHLH are the cause of brachydactyly type E2 (BDE2) [MIM:613382]. BDE2 is 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

    20/193 diseases for PTHLH (see all 193):    About MalaCards
    humoral hypercalcemia of malignancy    hypercalcemia    brachydactyly type e    pseudohypoparathyroidism type ib
    jansen's metaphyseal chondrodysplasia    spinal cord injury    pigmented villonodular synovitis    brachydactyly, type e2
    juxtacortical chondroma    metaphyseal chondrodysplasia    villonodular synovitis    pseudohypoparathyroidism type 1b
    diffuse large b-cell lymphoma    human t-cell leukemia virus type 1    medullary sponge kidney    pseudohypoparathyroidism
    hidradenitis suppurativa    osteoporosis, postmenopausal    mccune albright syndrome    non-small cell lung carcinoma

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

    10/94 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: PTHLH (9 documents)

    Export disorders for PTHLH gene to outside databases

    Publications
    for PTHLH gene

    (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 1242):
    (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. 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)
    3. 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)
    4. Deletion and point mutations of PTHLH cause brachydac tyly type E. (PubMed id 20170896)1, 2 Klopocki E....Mundlos S. (2010)
    5. 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)
    6. 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)
    7. Minireview: parathyroid hormone-related protein as an intracrine factor -- trafficking mechanisms and functional consequences. (PubMed id 12538599)1, 2 Fiaschi-Taesch N.M. and Stewart A.F. (2003)
    8. Molecular basis for the recognition of a nonclassical nuclear localization signal by importin beta. (PubMed id 12504010)1, 2 Cingolani G.... Gerace L. (2002)
    9. The structure of human parathyroid hormone-related protein(1-34) in near-physiological solution. (PubMed id 10050767)1, 2 Weidler M....Rosch P. (1999)
    10. C-terminal parathyroid hormone-related protein inhibits proliferation and differentiation of human osteoblast-like cells. (PubMed id 9144344)1, 2 Martinez M.E.... Esbrit P. (1997)

    External Searches for PTHLH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PTHLH gene

    (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

    Other Databases showing PTHLH gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PTHLH gene

    (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

    Intellectual Property
    for PTHLH gene

    (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:
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