PTHLH parathyroid hormone like hormone
Gene ID: 5744, updated on 3-Apr-2024Gene type: protein coding
Also known as: HHM; PLP; BDE2; PTHR; PTHRP
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- Go to complete Gene record for PTHLH
- Go to Variation Viewer for PTHLH variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. GeneReviews: Not available | |
| Brachydactyly type E2 | See labs |
| Genetic variants associated with breast size also influence breast cancer risk. GeneReviews: Not available | |
| Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. GeneReviews: Not available | |
| Genome-wide association studies identify four ER negative-specific breast cancer risk loci. GeneReviews: Not available | |
| Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. GeneReviews: Not available | |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| 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. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25) ClinGen Genome Curation PagePubMedTriplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2023-01-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12p11.22
- Sequence:
- Chromosome: 12; NC_000012.12 (27958084..27972733, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTHLH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PTHLH database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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