Ghr MGI Mouse Gene Detail - MGI:95708 - growth hormone receptor

Symbol

Ghr
Name

growth hormone receptor
Synonyms

GHBP, GHR/BP

Feature Type

protein coding gene
IDs

MGI:95708
NCBI Gene: 14600
Alliance

gene page
Transcription Start Sites

22 TSS

Sequence Map

Chr15:3347237-3612834 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 1.84 cM
Mapping Data

23 experiments

SNPs within 2kb

5308 from dbSNP Build 142
Strain Annotations

18
RFLP

4

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95708	protein coding gene	Chr15:3347237-3612974 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0021682	protein coding gene	Chr15:171518-443552 (-)
A/J	MGP_AJ_G0021642	protein coding gene	Chr15:181824-454815 (-)
AKR/J	MGP_AKRJ_G0021620	protein coding gene	Chr15:183872-457471 (-)
BALB/cJ	MGP_BALBcJ_G0021649	protein coding gene	Chr15:175799-444617 (-)
C3H/HeJ	MGP_C3HHeJ_G0021425	protein coding gene	Chr15:162788-435364 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022088	protein coding gene	Chr15:213640-502525 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019626	protein coding gene	Chr15:142484-396402 (-)
CAST/EiJ	MGP_CASTEiJ_G0020941	protein coding gene	Chr15:223062-499647 (-)
CBA/J	MGP_CBAJ_G0021394	protein coding gene	Chr15:205190-499427 (-)
DBA/2J	MGP_DBA2J_G0021518	protein coding gene	Chr15:159132-424633 (-)
FVB/NJ	MGP_FVBNJ_G0021496	protein coding gene	Chr15:148991-410516 (-)
LP/J	MGP_LPJ_G0021585	protein coding gene	Chr15:151746-424632 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021522	protein coding gene	Chr15:207595-503256 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022111	protein coding gene	Chr15:175233-452792 (-)
PWK/PhJ	MGP_PWKPhJ_G0020685	protein coding gene	Chr15:212195-481683 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020523	protein coding gene	Chr15:238945-521176 (-)
WSB/EiJ	MGP_WSBEiJ_G0020997	protein coding gene	Chr15:159423-432510 (-)

Human Ortholog

GHR, growth hormone receptor

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GHR, growth hormone receptor
Synonyms

GHBP, GHIP
Links

HGNC:4263

NCBI Gene ID: 2690

neXtProt AC: NX_P10912

UniProt: P10912
Chr Location

5p13.1-p12; chr5:42423439-42721878 (+) GRCh38

MGI Vertebrate Homology

Ghr stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: GHR
Gene Tree

Ghr

Diseases

1 with Ghr mouse models; 6 with human GHR associations

Human Disease

Mouse Models

Laron syndrome

IDs

View 2 models

colonic disease

IDs

familial hypercholesterolemia

IDs

isolated growth hormone deficiency

IDs

osteoarthritis

IDs

type 2 diabetes mellitus

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

3 with disease annotations

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Phenotype Summary

144 phenotypes from 11 alleles in 14 genetic backgrounds
8 phenotypes from multigenic genotypes
6 images
198 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

20
Chemically induced (ENU)

1
Endonuclease-mediated

7
Targeted

12
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span.

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All GO Annotations

54
GO References

12

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

979
Tissues

92
cDNA Data

136
Literature Summary

23

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ghr

ZFIN ghra, ghrb

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All Sequences

66
RefSeq

6
UniProt

4
CCDS

CCDS27358.1, CCDS37024.1

Ensembl

ENSMUSG00000055737 (Evidence)
NCBI Gene

14600

			Length	Strain/Species	Flank
genomic	14600	NCBI Gene Model \| MGI Sequence Detail	265598	C57BL/6J	± kb
transcript	NM_010284	RefSeq \| MGI Sequence Detail	4302	ZRU/MplStud
polypeptide	P16882	UniProt \| EBI \| MGI Sequence Detail	650	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000007970 growth hormone receptor

(term hierarchy)
InterPro Domains

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR025871 Growth hormone-binding protein

IPR015152 Growth hormone/erythropoietin receptor, ligand binding

IPR013783 Immunoglobulin-like fold

IPR003528 Long hematopoietin receptor, single chain, conserved site

IPR050379 Type I Cytokine Receptor
GlyGen

P16882 4 sites

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All nucleic 159

Genomic 5

cDNA 138

Primer pair 8

Other 8

Microarray probesets 6

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MGD-MRK-10070, MGI:2145937

Summaries

All 314

Developmental Gene Expression 23

Diseases 3

Gene Ontology 12

Phenotypes 198
Earliest

J:7060 Herington AC, et al., Hepatic binding of human and bovine growth hormones and ovine prolactin in the dwarf little mouse. Endocrinology. 1983 Jun;112(6):2032-8
Latest

J:359052 Gusmao DO, et al., Characterization and Regulation of the Neonatal Growth Hormone Surge. Endocrinology. 2024 Oct 30;165(12)

TSS for Ghr:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr133591	Chr15:3612946-3613024 (-)	-151 bp
Tssr133590	Chr15:3612910-3612923 (-)	-83 bp
Tssr133589	Chr15:3612873-3612893 (-)	-49 bp
Tssr133588	Chr15:3612673-3612723 (-)	136 bp
Tssr133587	Chr15:3612628-3612669 (-)	185 bp
Tssr133586	Chr15:3612106-3612159 (-)	701 bp
Tssr133585	Chr15:3611811-3611833 (-)	1,012 bp
Tssr133584	Chr15:3611643-3611663 (-)	1,181 bp
Tssr133583	Chr15:3611618-3611633 (-)	1,208 bp
Tssr133582	Chr15:3598185-3598187 (-)	14,648 bp
Tssr133581	Chr15:3572097-3572114 (-)	40,728 bp
Tssr133580	Chr15:3572026-3572056 (-)	40,793 bp
Tssr133579	Chr15:3571939-3571966 (-)	40,881 bp
Tssr133578	Chr15:3571919-3571937 (-)	40,906 bp
Tssr133577	Chr15:3571893-3571903 (-)	40,936 bp
Tssr133576	Chr15:3571879-3571890 (-)	40,949 bp
Tssr133575	Chr15:3571853-3571862 (-)	40,976 bp
Tssr133574	Chr15:3571832-3571843 (-)	40,996 bp
Tssr133573	Chr15:3570432-3570436 (-)	42,400 bp
Tssr133572	Chr15:3552697-3552701 (-)	60,135 bp
Tssr133571	Chr15:3493334-3493340 (-)	119,497 bp
Tssr133570	Chr15:3370584-3370588 (-)	242,248 bp

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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