GHRHR - growth hormone releasing hormone receptor Gene

Also Known as GRFR; GHRFR; IGHD4; IGHD1B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2692

About GHRHR

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:30,963,953-30,979,528 (from NCBI)

This gene has 12 transcripts (splice variants), 193 orthologues, 42 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]

GHRHR Products (1)

mRNA	Protein	Name
NM_000823.4	NP_000814.2	growth hormone-releasing hormone receptor precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables growth factor binding	IPI IPI: Inferred from physical interaction	7680413	GOA
enables growth hormone-releasing hormone receptor activity	IMP IMP: Inferred from mutant phenotype	7680413	GOA
enables peptide hormone binding	IPI IPI: Inferred from physical interaction	7680413	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	1333056	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	1333056	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	12867592	GOA
involved in positive regulation of multicellular organism growth	IMP IMP: Inferred from mutant phenotype	8528260	GOA
involved in response to estrogen	IDA IDA: Inferred from direct assay	9482665	GOA
involved in response to glucocorticoid	IDA IDA: Inferred from direct assay	9482665	GOA
involved in response to insulin	IMP IMP: Inferred from mutant phenotype	17356054	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	1333056	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10461027	GOA
located in membrane	IDA IDA: Inferred from direct assay	1333056	GOA
located in nuclear inner membrane	IDA IDA: Inferred from direct assay	10461027	GOA
located in nuclear matrix	IDA IDA: Inferred from direct assay	10461027	GOA
located in nuclear outer membrane	IDA IDA: Inferred from direct assay	10461027	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10461027	GOA
located in secretory granule	IDA IDA: Inferred from direct assay	10461027	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GHRHR Protein Structure

HRM

7tm_2

0
100
200
300
400
423 a.a.

Protein Preferred Names	Protein Names
growth hormone-releasing hormone receptor	GHRH receptor

GHRHR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810879	GHRH Receptor Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Isolated Growth Hormone Deficiency, Type Iv	Growth Hormone Deficiency, Isolated, Type Iv IGHD4 Dwarfism Of Sindh Isolated Growth Hormone Deficiency, Type 4 Isolated Growth Hormone Deficiency, Type Ib, Formerly Ighd1b, Formerly Growth Hormone Deficiency, Isolated, 4
Isolated Growth Hormone Deficiency, Type Ib	Isolated Growth Hormone Deficiency Type Ib IGHD1B Ighd Ib Growth Hormone Deficiency, Isolated, Type Ib Congenital Ighd Type Ib Congenital Isolated Gh Deficiency Type Ib Congenital Isolated Growth Hormone Deficiency Type Ib Dwarfism Of Sindh Pituitary Dwarfism I Isolated Growth Hormone Deficiency Type 1b Ighd 1b Growth Hormone Deficiency, Isolated, 1b
Growth Hormone Deficiency	Somatotropin Deficiency Isolated Somatotropin Deficiency
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Acromegaly	Gigantism Growth Hormone Excess Pituitary Giant Somatotroph Adenoma Growth Hormone-Secreting Pituitary Adenoma
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
Isolated Growth Hormone Deficiency Type Iii	Congenital Ighd Type Iii Congenital Isolated Gh Deficiency Type Iii Congenital Isolated Growth Hormone Deficiency Type Iii Fleisher Syndrome Growth Hormone Deficiency With Hypogammaglobulinemia Ighd Iii X-Linked Ighd X-Linked Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 3 X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked Ighd3 Growth Hormone Deficiency, Isolated, Type Iii )
Isolated Growth Hormone Deficiency, Type Ii	Ighd Ii Isolated Growth Hormone Deficiency Type Ii IGHD2 Growth Hormone Deficiency, Isolated, Type Ii Congenital Ighd Type Ii Congenital Isolated Gh Deficiency Type Ii Congenital Isolated Growth Hormone Deficiency Type Ii Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant Growth Hormone Deficiency, Isolated, Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant Autosomal Dominant Isolated Growth Hormone Deficiency Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 2 Growth Hormone Deficiency, Isolated Autosomal Dominant Growth Hormone Deficiency, Isolated, 2 Growth Hormone Deficiency Isolated Autosomal Dominant
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
Pituitary Adenoma	Adenoma Of The Pituitary Gland Pituitary Adenomas Adenoma, Pituitary Pituitary Gland Adenoma Pituitary Neoplasms
Pituitary Hypoplasia	Hypoplasia Of The Pituitary Gland
Prolactinoma	Prolactin-Producing Pituitary Gland Adenoma Prolactin-Secreting Pituitary Adenoma Forbes-Albright Syndrome Lactotroph Adenoma Prl-Secreting Pituitary Adenoma Prloma Pituitary Lactotrophic Adenoma Familial Prolactinoma Pituitary Adenoma, Prolactin-Secreting Prolactinoma Of Pituitary Gland PSPA
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
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
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Hyperpituitarism
Lissencephaly, X-Linked, 2	X-Linked Lissencephaly With Abnormal Genitalia Hydranencephaly With Abnormal Genitalia Xlag Xlisg X-Linked Lissencephaly With Ambiguous Genitalia LISX2 Lissencephaly, X-Linked 2 X-Linked Lissencephaly 2 X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly, X-Linked, With Ambiguous Genitalia Xlis2 X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome Xlag Syndrome Lissencephaly X-Linked With Ambiguous Genitalia Lissencephaly, X-Linked, Type 2 Chromosome Xq26.3 Duplication Syndrome
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

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0089A	Human growth hormone-releasing factor TFA	Activator	99.49%	Unkown
HY-P0089	Human growth hormone-releasing factor	Activator	98.72%	Unkown
HY-P3594	[His1,Nle27] GHRF (1-32), amide, human	Activator	/	Unkown
HY-RS05414	GHRHR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19006	Ghrhr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25495	Ghrhr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GHRHR	MGD	MGI:95710
Bos taurus	GHRHR	VGNC	VGNC:29350
Macaca mulatta	GHRHR	VGNC	VGNC:73050
Rattus norvegicus	GHRHR	RGD	RGD:2688
Canis familiaris	GHRHR	VGNC	VGNC:41208
Felis catus	GHRHR	VGNC	VGNC:62546
Others	GHRHR	NCBI