PTHLH - parathyroid hormone like hormone Gene
Also Known as HHM; PLP; BDE2; PTHR; PTHRP
Species: Homo sapiens
About PTHLH
This gene has 9 transcripts (splice variants), 269 orthologues and is associated with 4 phenotypes. Broad expression in esophagus (RPKM 1.7), endometrium (RPKM 1.5) and 19 other tissues.
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]
PTHLH Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_002820.3 | NP_002811.1 | parathyroid hormone-related protein isoform 2 preproprotein |
| NM_198964.2 | NP_945315.1 | parathyroid hormone-related protein isoform 2 preproprotein |
| NM_198965.2 | NP_945316.1 | parathyroid hormone-related protein isoform 1 preproprotein |
| NM_198966.2 | NP_945317.1 | parathyroid hormone-related protein isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables peptide hormone receptor binding |
IDA
IDA: Inferred from direct assay
|
19674967 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19674967 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within adenylate cyclase-activating G protein-coupled receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
9832460 | GOA |
| acts upstream of or within negative regulation of chondrocyte development |
IDA
IDA: Inferred from direct assay
|
90087 | GOA |
| acts upstream of or within negative regulation of chondrocyte differentiation |
IDA
IDA: Inferred from direct assay
|
90087 | GOA |
| acts upstream of or within regulation of gene expression |
IDA
IDA: Inferred from direct assay
|
90087 | GOA |
| acts upstream of or within skeletal system development |
IDA
IDA: Inferred from direct assay
|
9008714 | GOA |
PTHLH Protein Structure
Parathyroid: Parathyroid hormone family (35 - 130)
- 0
- 100
- 177 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
parathyroid hormone-related protein |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Brachydactyly, Type E2 |
|
|
| Brachydactyly, Type E1 |
|
|
| Brachydactyly |
|
|
| Dysgerminoma |
|
|
| Primary Hyperparathyroidism |
|
|
| Pseudohypoparathyroidism |
|
|
| Parathyroid Adenoma |
|
|
| Leydig Cell Tumor |
|
|
| Hypercalcemia, Infantile, 1 |
|
|
| Enchondromatosis, Multiple, Ollier Type |
|
|
| Hyperparathyroidism |
|
|
| Hypoparathyroidism |
|
|
| Adult T-Cell Leukemia/Lymphoma |
|
|
| Osteochondroma |
|
|
| Malignant Ovarian Brenner Tumor |
|
|
| Large Cell Carcinoma |
|
|
| Pancreatic Endocrine Carcinoma |
|
|
| Sclerosing Hepatic Carcinoma |
|
|
| Osteochondrodysplasia |
|
|
| Metaphyseal Chondrodysplasia, Jansen Type |
|
|
| Pseudohypoparathyroidism, Type Ib |
|
|
| Osteomalacia |
|
|
| Parathyroid Gland Disease |
|
|
| Mineral Metabolism Disease |
|
|
| Bone Disease |
|
|
| Paraneoplastic Syndromes |
|
|
| Eiken Syndrome |
|
|
| Chondrosarcoma |
|
|
| Hematologic Cancer |
|
|
| Hyperprolactinemia |
|
|
| Osteoporosis |
|
|
| Childhood Ovarian Dysgerminoma |
|
|
| Childhood Ovarian Germ Cell Tumor |
|
|
| Fibrous Dysplasia |
|
|
| Hypophosphatemia |
|
|
| Hypertension And Brachydactyly Syndrome |
|
|
| Squamous Cell Carcinoma |
|
|
| Adenosquamous Carcinoma |
|
|
| Failure Of Tooth Eruption, Primary |
|
|
| Ovarian Small Cell Carcinoma |
|
|
| Dysgerminoma Of Ovary |
|
|
| Hypocalcemia, Autosomal Dominant 1 |
|
|
| Islet Cell Tumor |
|
|
| Clear Cell Adenocarcinoma |
|
|
| Chondroblastoma |
|
|
| Hypervitaminosis D |
|
|
| Prostate Cancer |
|
|
| Neutrophilia, Hereditary |
|
|
| Familial Hypocalciuric Hypercalcemia |
|
|
| Pseudohypoparathyroidism, Type Ia |
|
|
| Metachondromatosis |
|
|
| Neuroendocrine Tumor |
|
|
| Granulomatous Myositis |
|
|
| Invasive Malignant Thymoma |
|
|
| Her2-Receptor Negative Breast Cancer |
|
|
| Lung Cancer |
|
|
| Pseudopseudohypoparathyroidism |
|
|
| Acrodysostosis |
|
|
| Clear Cell Chondrosarcoma |
|
|
| Multiple Enchondromatosis, Maffucci Type |
|
|
| Tooth Ankylosis |
|
|
| Metaphyseal Dysplasia |
|
|
| Osteogenic Sarcoma |
|
|
| Chondrodysplasia, Blomstrand Type |
|
|
| Breast Cancer |
|
|
| Phosphorus Metabolism Disease |
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
| T-Cell Acute Lymphoblastic Leukemia |
|
|
| Syndactyly, Type V |
|
|
| Exostosis |
|
|
| Sarcoid Meningitis |
|
|
| Pancreatic Cancer |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Bone Giant Cell Tumor |
|
|
| Myeloma, Multiple |
|
|
| Ischemic Bone Disease |
|
|
| Brachydactyly, Type A1 |
|
|
| Bone Development Disease |
|
|
| Bone Remodeling Disease |
|
|
| Bone Resorption Disease |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Congenital Granular Cell Tumor |
|
|
| Brittle Bone Disorder |
|
|
| Breast Adenocarcinoma |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PTHLH | VGNC | VGNC:45157 |
| Felis catus | PTHLH | VGNC | VGNC:69149 |
| Mus musculus | PTHLH | MGD | MGI:97800 |
| Bos taurus | PTHLH | VGNC | VGNC:33517 |
| Rattus norvegicus | PTHLH | RGD | RGD:3441 |
| Macaca mulatta | PTHLH | VGNC | VGNC:76590 |
| Others | PTHLH | NCBI |