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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:168470 Ensembl IDEnsembl:ENSG00000087494 HGNC IDHGNC:HGNC:9607 PHARMGKB IDPA33952 Map Location12p11.22 |
GO terms in PTHLH
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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 |
Gene expression in normal tissue: PTHLH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PTHLH
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD68 | Paclitaxel | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PTHLH
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |