Entity Details

Primary name PTHLH
Entity type gene
Source Source Link

Details

PrimaryID5744
RefseqGeneNG_023197
SymbolPTHLH
Nameparathyroid hormone like hormone
Chromosome12
Location12p11.22
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-02-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPTHR_HUMAN

GO terms

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GOName
GO:0001501 skeletal system development
GO:0002076 osteoblast development
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0005179 hormone activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007565 female pregnancy
GO:0008284 positive regulation of cell population proliferation
GO:0008285 negative regulation of cell population proliferation
GO:0008544 epidermis development
GO:0010468 regulation of gene expression
GO:0030282 bone mineralization
GO:0032330 regulation of chondrocyte differentiation
GO:0032331 negative regulation of chondrocyte differentiation
GO:0046058 cAMP metabolic process
GO:0051428 peptide hormone receptor binding
GO:0061182 negative regulation of chondrocyte development

Diseases

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Disease IDSourceNameDescription
613382 OMIMBrachydactyly E2 (BDE2)A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions