PTHLH
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| parathyroid hormone like hormone | MIM:168470 | Ensembl:ENSG00000087494 | HGNC:HGNC:9607 | PA33952 | 12p11.22 |
GO terms in PTHLH
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005615 | extracellular space |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| BP | IDA | GO:0001501 | skeletal system development |
| BP | IBA | GO:0002076 | osteoblast development |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IBA | GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway |
| BP | TAS | GO:0007267 | cell-cell signaling |
| BP | TAS | GO:0007565 | female pregnancy |
| BP | TAS | GO:0008284 | positive regulation of cell proliferation |
| BP | TAS | GO:0008285 | negative regulation of cell proliferation |
| BP | TAS | GO:0008544 | epidermis development |
| BP | IDA | GO:0010468 | regulation of gene expression |
| BP | IEA | GO:0010469 | regulation of signaling receptor activity |
| BP | IEA | GO:0030282 | bone mineralization |
| BP | IBA | GO:0032330 | regulation of chondrocyte differentiation |
| BP | IDA | GO:0032331 | negative regulation of chondrocyte differentiation |
| BP | TAS | GO:0046058 | cAMP metabolic process |
| MF | IBA | GO:0005179 | hormone activity |
| MF | IBA | GO:0051428 | peptide hormone receptor binding |
| MF | IDA | GO:0051428 | peptide hormone receptor binding |
Gene expression in normal tissue: PTHLH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PTHLH
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2853 | Endoderm Differentiation |
| wikipathways | WP2877 | Vitamin D Receptor Pathway |
| wikipathways | WP3872 | Regulation of Apoptosis by Parathyroid Hormone-related Protein |
| wikipathways | WP474 | Endochondral Ossification |
| pid | hedgehog_2pathway | Signaling events mediated by the Hedgehog family |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373080 | Class B/2 (Secretin family receptors) |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-418555 | G alpha (s) signalling events |
| reactome | R-HSA-500792 | GPCR ligand binding |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PTHLH
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