About   Help   FAQ
Pthlh Gene Detail
Summary
  • Symbol
    Pthlh
  • Name
    parathyroid hormone-like peptide
  • Synonyms
    parathyroid hormone-like hormone, parathyroid hormone-related peptide, parathyroid hormone-related protein, PTH-like, PTH-related peptide, Pthrp
  • Feature Type
    protein coding gene
  • IDs
    MGI:97800
    NCBI Gene: 19227
Location & Maps
more
  • Sequence Map
    Chr6:147252101-147264183 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12083 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PTHLH, parathyroid hormone-like hormone
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PTHLH, parathyroid hormone-like hormone
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BDE2, HHM, PLP, PTHR, PTHRP
  • Links
    NCBI Gene ID: 5744
    neXtProt AC: NX_P12272

  • Chr Location
    12p12.1-p11.2; chr12:27958084-27972731 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pthlh mouse models; 2 with human PTHLH associations

Human Disease Mouse Models
       Achondroplasia; ACH   OMIM: 100800 View 1 model
       Brachydactyly, Type E2; BDE2   OMIM: 613382
Parathyroid Hormone-Like Hormone; PTHLH   OMIM: 168470
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    104 phenotypes from 7 alleles in 14 genetic backgrounds
    85 phenotypes from multigenic genotypes
    19 images
    87 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026067 VEGA Gene Model | MGI Sequence Detail 12083 C57BL/6J ±  kb
transcript OTTMUST00000064342 VEGA | MGI Sequence Detail 1603 Not Applicable  
polypeptide OTTMUSP00000031937 VEGA | MGI Sequence Detail 175 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    74 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000013433 parathyroid hormone-related protein
  • InterPro Domains
    IPR001415 Parathyroid hormone/parathyroid hormone-related protein
    IPR003626 Parathyroid hormone-related protein
Molecular
Reagents
less
  • All nucleic 26
    Genomic 4
    cDNA 17
    Primer pair 2
    Other 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-13668
References
more
  • Summaries
    All 212
    Developmental Gene Expression 94
    Diseases 4
    Gene Ontology 15
    Phenotypes 87
  • 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:228827 Rastellini C, et al., Induction of chronic pancreatitis by pancreatic duct ligation activates BMP2, apelin, and PTHrP expression in mice. Am J Physiol Gastrointest Liver Physiol. 2015 Oct 1;309(7):G554-65

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/26/2016
MGI 6.03
The Jackson Laboratory