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Gh Gene Detail
Summary
  • Symbol
    Gh
  • Name
    growth hormone
  • Feature Type
    protein coding gene
  • IDs
    MGI:95707
    NCBI Gene: 14599
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:106191097-106192691 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 68.89 cM, cytoband D
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    57 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95707
 protein coding gene Chr11:106191087-106194529 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019303
 protein coding gene Chr11:109589316-109590910 (-)
A/J MGP_AJ_G0019271
 protein coding gene Chr11:104922345-104923939 (-)
AKR/J MGP_AKRJ_G0019240
 protein coding gene Chr11:108053235-108054829 (-)
BALB/cJ MGP_BALBcJ_G0019245
 protein coding gene Chr11:105331100-105332694 (-)
C3H/HeJ MGP_C3HHeJ_G0019054
 protein coding gene Chr11:108339556-108341150 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019695
 protein coding gene Chr11:112940604-112942198 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017319
 protein coding gene Chr11:102200290-102201902 (-)
CAST/EiJ MGP_CASTEiJ_G0018607
 protein coding gene Chr11:109398719-109400310 (-)
CBA/J MGP_CBAJ_G0019023
 protein coding gene Chr11:117639780-117641374 (-)
DBA/2J MGP_DBA2J_G0019135
 protein coding gene Chr11:104390707-104392301 (-)
FVB/NJ MGP_FVBNJ_G0019126
 protein coding gene Chr11:103895276-103896870 (-)
LP/J MGP_LPJ_G0019205
 protein coding gene Chr11:110032798-110034392 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019156
 protein coding gene Chr11:116922846-116924440 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019732
 protein coding gene Chr11:108545628-108547233 (-)
PWK/PhJ MGP_PWKPhJ_G0018372
 protein coding gene Chr11:105487791-105489399 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018163
 protein coding gene Chr11:108312137-108313743 (-)
WSB/EiJ MGP_WSBEiJ_G0018658
 protein coding gene Chr11:108504927-108506532 (-)



Homology
more
  • Human Ortholog
    CSH1, chorionic somatomammotropin hormone 1
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CSH1, chorionic somatomammotropin hormone 1
  • Synonyms
    CS-1, CSA, CSMT, GHB3, hCS-1, hCS-A, PL
  • Links
    NCBI Gene ID: 1442
    neXtProt AC: NX_P0DML2, NX_P0DML3
    UniProt: P0DML2

  • Chr Location
    17q23.3; chr17:63894909-63896661 (-)  GRCh38
  • Human Ortholog
    CSH2, chorionic somatomammotropin hormone 2
  • Synonyms
    CS-2, CSB, GHB1, hCS-B, PL
  • Links
    NCBI Gene ID: 1443
    neXtProt AC: NX_P0DML3
    UniProt: P0DML3

  • Chr Location
    17q23.3; chr17:63872012-63873766 (-)  GRCh38
  • Human Ortholog
    CSHL1, chorionic somatomammotropin hormone like 1
  • Synonyms
    CS-5, CSHP1, CSL, GHB4, hCS-L
  • Links
    NCBI Gene ID: 1444
    neXtProt AC: NX_Q14406
    UniProt: Q14406

  • Chr Location
    17q23.3; chr17:63909597-63911341 (-)  GRCh38
  • Human Ortholog
    GH1, growth hormone 1
  • Synonyms
    GH, GHB5, GHN, GH-N, hGH-N, IGHD1A, IGHD1B, IGHD2
  • Links
    NCBI Gene ID: 2688
    neXtProt AC: NX_P01241
    UniProt: P01241

  • Chr Location
    17q23.3; chr17:63917200-63918839 (-)  GRCh38
  • Human Ortholog
    GH2, growth hormone 2
  • Synonyms
    GHB2, GHL, GHV, GH-V, hGH-V
  • Links
    NCBI Gene ID: 2689
    neXtProt AC: NX_P01242
    UniProt: P01242

  • Chr Location
    17q23.3; chr17:63880215-63881944 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gh mouse models; 13 with human GH1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
    44 phenotypes from 3 alleles in 3 genetic backgrounds
    13 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.
Mice homozygous for an ENU-induced allele exhibit dwarfism, an increased percentage of body white and brown fat, elevated plasma ghrelin levels, pituitary hypoplasia, small liver, delayed sexual maturation, and reduced fertility. Heterozygotes display a less pronounced phenotype.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    14
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
non-membrane-bounded 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
    880
  • Tissues
    93
  • cDNA Data
    276
  • Literature Summary
    141
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020713 Ensembl Gene Model | MGI Sequence Detail 1595 C57BL/6J ±  kb
    transcript ENSMUST00000103071 Ensembl | MGI Sequence Detail 862 Not Applicable  
    polypeptide ENSMUSP00000099360 Ensembl | MGI Sequence Detail 216 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 294
      Genomic 1
      cDNA 277
      Primer pair 8
      Other 8

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-10069
    References
    more
    • Summaries
      All 329
      Developmental Gene Expression 141
      Diseases 1
      Gene Ontology 14
      Phenotypes 13
    • Earliest
      J:19261 George DL, et al., The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21 to qter. Hum Genet. 1981;57(2):138-41
    • Latest
      J:345905 Sarver DC, et al., Tmem263 deletion disrupts the GH/IGF-1 axis and causes dwarfism and impairs skeletal acquisition. Elife. 2024 Jan 19;12
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory