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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 (Parathyroid Hormone Like Hormone) is a Protein Coding gene. Diseases associated with PTHLH include Brachydactyly, Type E2 and Brachydactyly, Type E1. Among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include hormone activity and peptide hormone receptor binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005179 | hormone activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 19674967 |
GO:0051428 | peptide hormone receptor binding | IBA,IDA | 19674967 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | TAS | 8641188 |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | TAS | 10803599 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | Parathyroid hormone synthesis, secretion and action | ||
3 | Presynaptic function of Kainate receptors | ||
4 | G alpha (s) signalling events | ||
5 | Peptide ligand-binding receptors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IDA | 9008714 |
GO:0002076 | osteoblast development | IBA | 21873635 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007189 | adenylate cyclase-activating G protein-coupled receptor signaling pathway | IDA | 9832460 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTHLH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTHLH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTHLH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pthlh 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pthlh 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PTHLH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTHLH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PTHRP 31 |
|
OneToOne | |
PTHLH 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | PTHLH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pthlh 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pthlha 30 31 |
|
OneToMany | |
pthlhb 31 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
717354 | Likely Benign: not provided | 27,963,425(-) | G/C | MISSENSE_VARIANT | |
724533 | Likely Benign: not provided | 27,969,432(-) | G/A | SYNONYMOUS_VARIANT | |
794596 | Likely Benign: not provided | 27,963,596(-) | G/C | SYNONYMOUS_VARIANT | |
rs150566848 | Uncertain Significance: not provided | 27,969,488(-) | G/A | MISSENSE_VARIANT | |
rs1555124505 | Likely Pathogenic: Inborn genetic diseases | 27,963,346(-) | A/G | SPLICE_DONOR_VARIANT,STOP_LOST |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3628956 | CNV | loss | 21293372 |
nsv1159991 | CNV | deletion | 26073780 |
nsv557864 | CNV | gain | 21841781 |
nsv557876 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brachydactyly, type e2 |
|
|
brachydactyly, type e1 |
|
|
brachydactyly |
|
|
primary hyperparathyroidism |
|
|
pseudopseudohypoparathyroidism |
|
|