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Pth Gene Detail
Summary
  • Symbol
    Pth
  • Name
    parathyroid hormone
  • Feature Type
    protein coding gene
  • IDs
    MGI:97799
    NCBI Gene: 19226
  • Gene Overview
    MyGene.info: PTH
Location & Maps
more
  • Sequence Map
    Chr7:113385576-113388573 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2998 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PTH, parathyroid hormone
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PTH, parathyroid hormone
    Orthology source: HGNC, HomoloGene
  • Synonyms
    PTH1
  • Links
    NCBI Gene ID: 5741
    neXtProt AC: NX_P01270

  • Chr Location
    11p15.3; chr11:13492054-13496020 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PTH associations

Human Disease Mouse Models
       Hypoparathyroidism, Familial Isolated; FIH   OMIM: 146200
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 2 alleles in 3 genetic backgrounds
    23 phenotypes from multigenic genotypes
    2 images
    30 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.
  • All Mutations and Alleles
    6
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Pth
  • Incidental Mutations
Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 19226 NCBI Gene Model | MGI Sequence Detail 2998 C57BL/6J ±  kb
transcript NM_020623 RefSeq | MGI Sequence Detail 717 C57BL/6  
polypeptide NP_065648 RefSeq | MGI Sequence Detail 115 C57BL/6  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    38 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    1 Sequence
  • InterPro Domains
    IPR003625 Parathyroid hormone
    IPR001415 Parathyroid hormone/parathyroid hormone-related protein
Molecular
Reagents
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  • All nucleic 29
    Genomic 3
    cDNA 20
    Primer pair 3
    Other 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-13667
References
more
  • Summaries
    All 93
    Developmental Gene Expression 14
    Gene Ontology 12
    Phenotypes 30
  • Earliest
    J:7342 Heinrich G, et al., Gene encoding parathyroid hormone. Nucleotide sequence of the rat gene and deduced amino acid sequence of rat preproparathyroid hormone. J Biol Chem. 1984 Mar 10;259(5):3320-9
  • Latest
    J:226370 Hirai T, et al., Bone Is a Major Target of PTH/PTHrP Receptor Signaling in Regulation of Fetal Blood Calcium Homeostasis. Endocrinology. 2015 Aug;156(8):2774-80

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory