Pthlh
Gene Detail

Symbol Name ID

Pthlh parathyroid hormone-like peptide MGI:97800

STS

D6Mit26

Synonyms

parathyroid hormone-like hormone, parathyroid hormone-related peptide, parathyroid hormone-related protein, PTH-like, PTH-related peptide, Pthrp

Feature Type

protein coding gene

Genetic Map

Chromosome 6

78.19 cM, cytoband F-G
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr6:147252101-147264167 bp, - strand From VEGA annotation of GRCm38   12067 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Pthlh ± 2 cM)

Protein SuperFamily: parathyroid hormone-related protein
Gene Tree: Pthlh

Human ortholog

PTHLH parathyroid hormone-like hormone NCBI Gene ID 5744
Human Synonyms: BDE2, HHM, PLP, PTHR, PTHRP
Human Chr12:28111017-28124916 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human PTHLH (2)

Alleles and phenotypes

All alleles(8) : Targeted(8)
 

Homozygotes for targeted null mutations exhibit dischondroplasia associated with premature maturation of chondrocytes and die postnatally from asphyxia. Mutants rescued from neonatal lethality lack mammary development and tooth eruption.

 
Human Diseases Modeled Using Mouse Pthlh (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(9)

Gene Ontology (GO) classifications

All GO classifications: (32 annotations)

Process	adenylate cyclase-activating G-protein coupled receptor signaling pathway, endochondral ossification, ...
Component	cytoplasm, extracellular region, ...
Function	hormone activity, peptide hormone receptor binding

External Resources: FuncBase

Expression

Literature Summary: (83 records)
Data Summary: Results (54)    Tissues (35)    Images (25)
Theiler Stages: 1, 2, 3, 4, 5, 15, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	33
RT-PCR	16

cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(24) Genomic(4) cDNA(16) Primer pair(2) Other(2)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000026067 (Evidence)
Ensembl Gene Model	ENSMUSG00000048776 (Evidence)
Entrez Gene	19227 (Evidence)
DFCI	TC1583824, TC1657151
DoTS	DT.522903, DT.94287965
NIA Mouse Gene Index	U028042
Consensus CDS Project	CCDS39717.1
International Mouse Knockout Project Status	Pthlh

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026067	VEGA Gene Model | MGI Sequence Detail	12067	C57BL/6J
transcript	OTTMUST00000064342	VEGA | MGI Sequence Detail	1603	Not Applicable
polypeptide	OTTMUSP00000031937	VEGA | MGI Sequence Detail	175	Not Applicable

All sequences(30) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(30 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001415	Parathyroid hormone/parathyroid hormone-related protein
InterPro	IPR003626	Parathyroid hormone-related protein
Protein Ontology	PR:000013433	parathyroid hormone-related protein

References

(Earliest) J:9894 Yasuda T, et al., Rat parathyroid hormone-like peptide: comparison with the human homologue and expression in malignant and normal tissue. Mol Endocrinol. 1989 Mar;3(3):518-25
(Latest) J:189718 Gu Z, et al., Absence of PTHrP nuclear localization and carboxyl terminus sequences leads to abnormal brain development and function. PLoS One. 2012;7(7):e41542
All references(195)

Other accession IDs

MGD-MRK-13668