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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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
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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
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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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No matching records found

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