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    PTHLH parathyroid hormone like hormone [ Homo sapiens (human) ]

    Gene ID: 5744, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PTHLHprovided by HGNC
    Official Full Name
    parathyroid hormone like hormoneprovided by HGNC
    Primary source
    HGNC:HGNC:9607
    See related
    Ensembl:ENSG00000087494 MIM:168470; AllianceGenome:HGNC:9607
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHM; PLP; BDE2; PTHR; PTHRP
    Summary
    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]
    Expression
    Broad expression in esophagus (RPKM 1.7), endometrium (RPKM 1.5) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PTHLH in Genome Data Viewer
    Location:
    12p11.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27958084..27972733, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27829831..27844463, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28111017..28125666, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27159 Neighboring gene uncharacterized LOC105369709 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27974511-27975710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6152 Neighboring gene RN7SK pseudogene 15 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27196 Neighboring gene MPRA-validated peak1633 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6153 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:28058285-28059082 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:28059083-28059881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28121815-28122325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28122326-28122835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128050-28128738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:28128739-28129427 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27213 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27218 Neighboring gene MPRA-validated peak1634 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28175972-28177171 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:28180270-28180494 Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:28283226-28284425 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27297 Neighboring gene IFT57 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. PTHrP induces autocrine/paracrine proliferation of bone tumor cells through inhibition of apoptosis. Mak IW, et al. PLoS One, 2011. PMID 21625386, Free PMC Article
    2. Involvement of parathyroid hormone-related protein in vascular calcification of chronic haemodialysis patients. Liu F, et al. Nephrology (Carlton), 2012 Aug. PMID 22448974
    3. Prognostic value of immunocytochemical determination of parathyroid hormone-related peptide expression in cells of mammary ductal carcinoma. Analysis of 7 years of the disease course. Surowiak P, et al. Virchows Arch, 2003 Mar. PMID 12647214
    4. Vitamin D-dependent recruitment of DNA-PK to the chromatinized negative vitamin D response element in the PTHrP gene is required for gene repression by vitamin D. Okazaki T, et al. Biochem Biophys Res Commun, 2003 May 16. PMID 12727200
    5. Prostate cancer cell type-specific regulation of the human PTHrP gene via a negative VDRE. Tovar Sepulveda VA, et al. Mol Cell Endocrinol, 2003 Jun 30. PMID 12850281

    See all (244) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PTHrP participates in the bone destruction of middle ear cholesteatoma via promoting macrophage differentiation into osteoclasts induced by RANKL.
      Title: PTHrP participates in the bone destruction of middle ear cholesteatoma via promoting macrophage differentiation into osteoclasts induced by RANKL.
    2. The Parathyroid Hormone-Related Protein/Parathyroid Hormone 1 Receptor Axis in Adipose Tissue.
      Title: The Parathyroid Hormone-Related Protein/Parathyroid Hormone 1 Receptor Axis in Adipose Tissue.
    3. Osteostatin, a peptide for the future treatment of musculoskeletal diseases.
      Title: Osteostatin, a peptide for the future treatment of musculoskeletal diseases.
    4. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
      Title: A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
    5. Malignancy-related Hypercalcemia Caused by Metameric Cutaneous Metastasis of Parathyroid Hormone-related Protein-producing Bladder Carcinoma with Squamous Cell Differentiation: An Autopsy Case of Cobb Syndrome.
      Title: Malignancy-related Hypercalcemia Caused by Metameric Cutaneous Metastasis of Parathyroid Hormone-related Protein-producing Bladder Carcinoma with Squamous Cell Differentiation: An Autopsy Case of Cobb Syndrome.
    6. Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.
      Title: Role of Parathyroid Hormone and Parathyroid Hormone-Related Protein in Protein-Energy Malnutrition.
    7. Exosomal lncRNA HOTAIR promotes osteoclast differentiation by targeting TGF-beta/PTHrP/RANKL pathway.
      Title: Exosomal lncRNA HOTAIR promotes osteoclast differentiation by targeting TGF-β/PTHrP/RANKL pathway.
    8. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
      Title: Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
    9. Involvement of the Parathyroid Hormone-Related Protein on Changes in the CYP3A Expression in Cancer Cachexia.
      Title: Involvement of the Parathyroid Hormone-Related Protein on Changes in the CYP3A Expression in Cancer Cachexia.
    10. Involvement of parathyroid hormone-related peptide in the aggressive phenotype of colorectal cancer cells.
      Title: Involvement of parathyroid hormone-related peptide in the aggressive phenotype of colorectal cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (183)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Brachydactyly type E2
    MedGen: C3150644 OMIM: 613382 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    Little evidence for dosage pathogenicity (Last evaluated 2023-01-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
    EBI GWAS Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    EBI GWAS Catalog
    Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC14611

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide hormone receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide hormone receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cAMP metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in female pregnancy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in osteoblast development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of chondrocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal system development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    parathyroid hormone-related protein
    Names
    PTH-rP
    PTH-related protein
    osteostatin
    parathyroid hormone-like hormone preproprotein
    parathyroid hormone-like related protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023197.1 RefSeqGene

      Range
      4251..18900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002820.3 → NP_002811.1  parathyroid hormone-related protein isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_002811.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' CDS and UTR, compared to variant 1. The resulting isoform (2) has a shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC008011, BC005961, BG680355, BI963162, J03802
      Consensus CDS
      CCDS8715.1
      UniProtKB/TrEMBL
      F5GZD9, Q53XY9
      Related
      ENSP00000201015.4, ENST00000201015.8
      Conserved Domains (1) summary
      pfam01279
      Location:35 → 117
      Parathyroid; Parathyroid hormone family

    2. NM_198964.2 → NP_945315.1  parathyroid hormone-related protein isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_945315.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and in the 3' CDS and UTR, compared to variant 1. The resulting isoform (2) has a shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC008011, BC005961, BG679319, BI963162, J03802
      Consensus CDS
      CCDS8715.1
      UniProtKB/TrEMBL
      F5GZD9, Q53XY9
      Related
      ENSP00000379209.3, ENST00000395868.7
      Conserved Domains (1) summary
      pfam01279
      Location:35 → 117
      Parathyroid; Parathyroid hormone family

    3. NM_198965.2 → NP_945316.1  parathyroid hormone-related protein isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_945316.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC008011
      Consensus CDS
      CCDS44853.1
      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74
      UniProtKB/TrEMBL
      F5GZD9
      Related
      ENSP00000441765.1, ENST00000545234.6
      Conserved Domains (1) summary
      pfam01279
      Location:35 → 117
      Parathyroid; Parathyroid hormone family

    4. NM_198966.2 → NP_945317.1  parathyroid hormone-related protein isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_945317.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Both variants 1 and 4 encode the same isoform (1).
      Source sequence(s)
      AC008011, AI569027, AI591151, AI760061, BG676028, BG679319
      Consensus CDS
      CCDS44853.1
      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74
      UniProtKB/TrEMBL
      F5GZD9
      Conserved Domains (1) summary
      pfam01279
      Location:35 → 117
      Parathyroid; Parathyroid hormone family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      27958084..27972733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019675.2 → XP_016875164.1  parathyroid hormone-related protein isoform X1

      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74
      UniProtKB/TrEMBL
      F5GZD9
      Conserved Domains (1) summary
      pfam01279
      Location:35 → 117
      Parathyroid; Parathyroid hormone family

    2. XM_047429179.1 → XP_047285135.1  parathyroid hormone-related protein isoform X1

      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74

    3. XM_047429178.1 → XP_047285134.1  parathyroid hormone-related protein isoform X1

      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74
      Related
      ENSP00000379213.1, ENST00000395872.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      27829831..27844463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372612.1 → XP_054228587.1  parathyroid hormone-related protein isoform X1

      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74

    2. XM_054372610.1 → XP_054228585.1  parathyroid hormone-related protein isoform X1

      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74

    3. XM_054372611.1 → XP_054228586.1  parathyroid hormone-related protein isoform X1

      UniProtKB/Swiss-Prot
      P12272, Q15251, Q6FH74
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P12272.1 GenPept UniProtKB/Swiss-Prot:P12272

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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