1. Gene
  2. GHR - growth hormone receptor Gene

GHR - growth hormone receptor Gene

Homo sapiens

Also known as GHBP; GHIP

Gene ID: 2690 | Gene type: protein coding

About GHR

Cytogenetic location: 5p13.1-p12 Genomic coordinates (GRCh38): 5:42,423,439-42,721,878 (from NCBI)

This gene has 13 transcripts (splice variants), 422 orthologues, 23 paralogues and is associated with 6 phenotypes. Biased expression in fat (RPKM 43.6), liver (RPKM 35.0) and 7 other tissues.

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]

GHR Products(11)

mRNA Protein Name
NM_000163.5 NP_000154.1 growth hormone receptor isoform 1 precursor
NM_001242399.2 NP_001229328.1 growth hormone receptor isoform 2 precursor
NM_001242400.2 NP_001229329.1 growth hormone receptor isoform 1 precursor
NM_001242401.4 NP_001229330.1 growth hormone receptor isoform 1 precursor
NM_001242402.2 NP_001229331.1 growth hormone receptor isoform 1 precursor
NM_001242403.3 NP_001229332.1 growth hormone receptor isoform 1 precursor
NM_001242404.2 NP_001229333.1 growth hormone receptor isoform 1 precursor
NM_001242405.2 NP_001229334.1 growth hormone receptor isoform 1 precursor
NM_001242406.2 NP_001229335.1 growth hormone receptor isoform 1 precursor
NM_001242460.1 NP_001229389.1 growth hormone receptor isoform 3 precursor
NM_001242462.1 NP_001229391.1 growth hormone receptor isoform 5 precursor

GHR Protein Structure

EpoR_lig-bind

EpoR_lig-bind: Erythropoietin receptor, ligand binding (47 - 134)

fn3

fn3: Fibronectin type III domain (170 - 236)

GHBP

GHBP: Growth hormone receptor binding (316 - 617)

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  • 638 a.a.
Protein Preferred Names Protein Names

growth hormone receptor

GH receptor

Recombinant GHR Proteins

Related Diseases

Diseases Alias
Laron Syndrome

Growth Hormone Insensitivity Syndrome

Growth Hormone Receptor Deficiency

Laron Dwarfism

Pituitary Dwarfism Ii

Laron-Type Isolated Somatotropin Defect

Primary Growth Hormone Resistance

Laron-Type Dwarfism

Laron Type Pituitary Dwarfism I

Primary Growth Hormone Insensitivity

Primary Gh Resistance

Gh-R Deficiency

Growth Hormone Receptor Defect

Laron-Type Pituitary Dwarfism

Laron-Type Short Stature

Severe Gh Insensitivity

Ghis

Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway

Complete Growth Hormone Insensitivity

Gh Receptor Deficiency

Primary Gh Insensitivity

Short Stature Due To Growth Hormone Resistance

LARS

Growth Hormone Insensitivity, Partial

Short Stature Due To Partial Ghr Deficiency

GHIP

Increased Responsiveness To Growth Hormone

Short Stature Due To Partial Growth Hormone Receptor Deficiency

Isolated Partial Growth Hormone Deficiency

Partial Ighd

Short Stature, Idiopathic, Autosomal

Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Growth Hormone Deficiency, Isolated Partial

Short Stature Due To Growth Hormone Secretagogue Receptor Deficiency

GHDP

Short Stature Due To Ghsr Deficiency

Ghrelin Receptor Deficiency

Hormone, Growth, Deficiency, Isolated Partial

Short Stature, Idiopathic, Autosomal

Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Acromegaly

Gigantism

Growth Hormone Excess

Pituitary Giant

Somatotroph Adenoma

Growth Hormone-Secreting Pituitary Adenoma

Insulin-Like Growth Factor I

Insulin-Like Growth Factor I Deficiency

IGF1 DEFICIENCY

Insulin-Like Growth Factor I, Resistance To

Growth Retardation With Deafness And Mental Retardation Due To Igf1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency

Growth Delay Due To Insulin-Like Growth Factor I Resistance

IGF1RES

Igf-I Resistance

Somatomedin, End-Organ Insensitivity To

Somatomedin-C

Somatomedin-C, Resistance To

Growth Retardation With Sensorineural Deafness And Mental Retardation

Insulin-Like Growth Factor 1 Resistance To

Igf-1 Resistance

Somatomedin End-Organ Insensitivity To

Somatomedin-C Resistance To

Growth Restriction With Sensorineural Deafness And Intellectual Disability

Growth Delay-Deafness-Intellectual Disability Syndrome

Growth Delay-Hearing Loss-Intellectual Disability Syndrome

Igf-1 Deficiency

Primary Insulin-Like Growth Factor Deficiency

Resistance To Igf-1

Insulin-Like Growth Factor 1 Resistance

End-Organ Insensitivity To Somatomedin

Igf1 Resistance

Resistance To Insulin-Like Growth Factor I

Resistance To Somatomedin-C

Insulin-Like Growth Factor 1, Resistance To

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Uremia

Uremia Of Renal Origin

Anorexia Nervosa

Anorexia Nervosa, Susceptibility To

ANON

Anorexia Nervosa, Susceptibility To, 1

An

Anorexia Nervosa 1

An - [Anorexia Nervosa]

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Actinic Keratosis

Solar Keratosis

Actinic Keratosis

Senile Hyperkeratosis

Sk - Solar Keratosis

Keratosis, Actinic

Seborrheic Keratosis

Ak - [Actinic Keratosis]

Sk - [Solar Keratosis]

Pituitary Adenoma

Adenoma Of The Pituitary Gland

Pituitary Adenomas

Adenoma, Pituitary

Pituitary Gland Adenoma

Pituitary Neoplasms

Hypopituitarism

Pituitary Hypofunction

Pituitary Insufficiency

Pituitary Hormone Deficiency

Subpituitarism

Hypophyseal Dystrophy

Hypohypophysism

Anterior Pituitary Insufficiency

Deficient Secretion Of One Or More Pituitary Hormones

Hypopituitarism Syndrome

Pituitary Deficiency

Pituitary Failure

Pituitary Insufficiency Nos

Anterior Pituitary Hypofunction

Deficient Secretion Of All Pituitary Hormones

Hypopituitary Dwarfism

Hyposomatotropic Dwarfism

Hypophyseal Dwarfism

Hypopituitary Cachexia

Hypophyseal Short Stature

Panhypopituitarism Syndrome

Pituitary Cachexia

Juvenile Hypopituitarism

Pituitary Dwarfism

Pituitary Gland Hypofunction

Primary Hypopituitarism

Secondary Hypogonadism

Prepubertal Panhypopituitarism

Prepubertal Dwarfism

Postpartum Panhypopituitary Syndrome

Postpartum Hypopituitarism

Pituitary Short Stature

Pituitary Infantilism

Pituitary Hypogonadism

Pituitary Hypoadrenocorticism

Schizophrenia 11

Sczd11

Schizophrenia Susceptibility Locus, Chromosome 10q-Related

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism

Combined Pituitary Hormone Deficiency

CPHD2

Ateliotic Dwarfism With Hypogonadism

Pituitary Dwarfism Iii

Hanhart Dwarfism

Simmond'S Disease

Simmonds' Disease

Cphd

Pituitary Hormone Deficiency, Combined

Hormone Deficiency, Pituitary, Combined, Type 2

Pituitary Dwarfism Type 3

Sheehan Syndrome

Hyperpituitarism
Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

Hyperinsulinism

Hyperinsulinemia

Hypothyroidism

Thyroid Diseases

Thyroid Disease

Thyroid Deficiency

Thyroid Insufficiency

Dysfunction Thyroid

Thyroid Dysfunction

Severe Combined Immunodeficiency, X-Linked

X-Linked Severe Combined Immunodeficiency

SCIDX1

XSCID

Scidx

X-Linked Scid

X-Scid

Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, X-Linked

Immunodeficiency 4

Imd4

Gamma Chain Deficiency

Scid-X1

X-Linked Combined Immunodeficiency Diseases

Thymic Epithelial Hypoplasia

Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency

Severe Combined Immunodeficiency T- B+, X-Linked

Il2rg Scid, T- B+ Nk-

T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency

T-B+ Scid Due To Gamma Chain Deficiency

T-B+ Severe Combined Immunodeficiency, X-Linked

Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

Agammaglobulinemia Swiss Type

Scid X-Linked

Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative

Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Gestational Diabetes

Gestational Diabetes Mellitus

GDM

Diabetes Mellitus Arising In Pregnancy

Maternal Gestational Diabetes Mellitus

Diabetes Mellitus, Gestational

Diabetes Mellitus, Pregnancy Related

Diabetes, Pregnancy-Induced

Diabetes Gestational

Diabetes, Gestational

Diabetes Of Pregnancy

Gdm - [Gestational Diabetes Mellitus]

Gestational Diabetes Mellitus Nos

Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Obstructive Jaundice

Jaundice, Obstructive

Cholestatic Jaundice

Cholestatic Jaundice Syndrome

Obstructive Hyperbilirubinemia

Jaundice Obstructive

Jaundice Cholestatic

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Pituitary Gland Disease

Pituitary Diseases

Pituitary Dysfunction

Pituitary Disease

Pituitary Deficiency

Pituitary Disorders

Scoliosis
Diabetes Mellitus

Diabetes

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Three M Syndrome 1

3-M Syndrome

Yakut Short Stature Syndrome

3m Syndrome

Le Merrer Syndrome

Dolichospondylic Dysplasia

Gloomy Face Syndrome

Three M Syndrome

3M1

3m Syndrome 1

Miller-Mckusick-Malvaux Syndrome

3-Msbn

Three-M Slender-Boned Nanism

Miller-Mckusick-Malvaux-Syndrome

3-M Syndrome 1

3m Syndrome-1

3m Syndrome, Type 1

Dwarfism

Dwarfism Tall Vertebrae

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GHR MGD MGI:95708
Macaca mulatta GHR VGNC VGNC:72922
Rattus norvegicus GHR RGD RGD:2687
Bos taurus GHR VGNC VGNC:50184
Felis catus GHR VGNC VGNC:62544
Canis familiaris GHR VGNC VGNC:41206
Others GHR NCBI