GHR

GENERAL INFORMATION

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Gene name

GHR

Gene description

Growth hormone receptor

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (adipose tissue, liver)
GTEx:Group enriched (adipose tissue, breast, liver, skeletal muscle)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (adipose tissue, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (adipose tissue, breast, liver, skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

GHR (HGNC Symbol)

Synonyms

GHBP

Description

Growth hormone receptor (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]

Chromosome

5

Cytoband

Chromosome location (bp)

42423777 - 42721878

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000112964 (version 78.38)

Entrez gene

2690

UniProt

P10912 (UniProt - Evidence at protein level)

neXtProt

NX_P10912

Antibodypedia

GHR antibodies


PROTEIN BROWSER

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ENST00000230882
 
ENST00000357703
 
ENST00000537449
 
ENST00000612382
 
ENST00000612626
 
ENST00000615111
 
ENST00000618088
 
ENST00000620156
 
ENST00000622294
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GHR-001 ENSP00000230882
ENST00000230882
P10912
Show all »
Show » Show » 638 71.5 Yes 1
GHR-201 ENSP00000350335
ENST00000357703
P10912
Show all »
Show » Show » 616 69.2 Yes 1
GHR-202 ENSP00000442206
ENST00000537449
P10912
Show all »
Show » Show » 638 71.5 Yes 1
GHR-203 ENSP00000478332
ENST00000612382
P10912
Show all »
Show » Show » 638 71.5 Yes 1
GHR-204 ENSP00000479846
ENST00000612626
P10912
Show all »
Show » Show » 638 71.5 Yes 1
GHR-205 ENSP00000478291
ENST00000615111
P10912
Show all »
Show » Show » 638 71.5 Yes 1
GHR-206 ENSP00000482373
ENST00000618088
P10912
Show all »
Show » Show » 638 71.5 Yes 1
GHR-207 ENSP00000483403
ENST00000620156
F5H7X2
Show all »
Show » Show » 645 72.2 Yes 1
GHR-208 ENSP00000483926
ENST00000622294
Q9HCW9
Show all »
Show » Show » 295 34 Yes 1