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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:147153607-147165511 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 78.19 cM, cytoband F-G
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    70 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97800
 protein coding gene Chr6:147153599-147165681 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031499
 protein coding gene Chr6:152308090-152321202 (-)
A/J MGP_AJ_G0031474
 protein coding gene Chr6:146262861-146275188 (-)
AKR/J MGP_AKRJ_G0031402
 protein coding gene Chr6:150609801-150626945 (-)
BALB/cJ MGP_BALBcJ_G0031482
 protein coding gene Chr6:146023946-146036059 (-)
C3H/HeJ MGP_C3HHeJ_G0031203
 protein coding gene Chr6:150665314-150677729 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031943
 protein coding gene Chr6:156357607-156369772 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029067
 protein coding gene Chr6:145000787-145012082 (-)
CAST/EiJ MGP_CASTEiJ_G0030572
 protein coding gene Chr6:150322751-150337245 (-)
CBA/J MGP_CBAJ_G0031163
 protein coding gene Chr6:162353246-162365473 (-)
DBA/2J MGP_DBA2J_G0031319
 protein coding gene Chr6:145038366-145050107 (-)
FVB/NJ MGP_FVBNJ_G0031271
 protein coding gene Chr6:143781968-143793629 (-)
LP/J MGP_LPJ_G0031405
 protein coding gene Chr6:152407470-152420293 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031311
 protein coding gene Chr6:166030763-166045338 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031976
 protein coding gene Chr6:150449709-150461517 (-)
PWK/PhJ MGP_PWKPhJ_G0030298
 protein coding gene Chr6:143563089-143575601 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030122
 protein coding gene Chr6:148594280-148608611 (-)
WSB/EiJ MGP_WSBEiJ_G0030665
 protein coding gene Chr6:151068787-151080922 (-)



Homology
more
  • Human Ortholog
    PTHLH, parathyroid hormone like hormone
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PTHLH, parathyroid hormone like hormone
  • Synonyms
    BDE2, HHM, PLP, PTHR, PTHRP
  • Links
    NCBI Gene ID: 5744
    neXtProt AC: NX_P12272
    UniProt: P12272

  • Chr Location
    12p11.22; chr12:27958084-27972733 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pthlh mouse models; 1 with human PTHLH associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    114 phenotypes from 7 alleles in 13 genetic backgrounds
    62 phenotypes from multigenic genotypes
    9 images
    99 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
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
    44
  • GO References
    17
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1022
  • Tissues
    145
  • cDNA Data
    13
  • Literature Summary
    131
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19227 NCBI Gene Model | MGI Sequence Detail 11905 C57BL/6J ±  kb
    transcript NM_008970 RefSeq | MGI Sequence Detail 1455 ZRU/MplStud  
    polypeptide P22858 UniProt | EBI | MGI Sequence Detail 175 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 4
      cDNA 20
      Primer pair 6
      Other 8

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13668
    References
    more
    • Summaries
      All 298
      Developmental Gene Expression 131
      Diseases 1
      Gene Ontology 17
      Phenotypes 99
    • 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:353623 Almubarak A, et al., FOXC1 and FOXC2 regulate growth plate chondrocyte maturation towards hypertrophy in the embryonic mouse limb skeleton. Development. 2024 Aug 15;151(16)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory