Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2798
Gene name Gene Name - the full gene name approved by the HGNC.	Gonadotropin releasing hormone receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GNRHR
Synonyms (NCBI Gene) Gene synonyms aliases	GNRHR1, GRHR, HH7, LHRHR, LRHR
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HH7
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes,

Show/Hide all(22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933074	T>C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs74452732	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893836	T>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs104893837	C>T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs104893838	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs104893839	G>T	Pathogenic	Missense variant, coding sequence variant
rs104893840	A>T	Pathogenic	Missense variant, coding sequence variant
rs104893841	A>T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs104893842	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893843	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893844	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893847	G>A	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs144900788	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369176613	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs515726219	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726220	G>A	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs606231406	A>G	Pathogenic	Missense variant, coding sequence variant
rs727505367	A>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs776834867	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044452	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1057520762	A>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1064793140	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022748	hsa-miR-124-3p	Microarray	18668037
MIRT023851	hsa-miR-1-3p	Microarray	18668037
MIRT029569	hsa-miR-26b-5p	Microarray	19088304
MIRT1025594	hsa-miR-1305	CLIP-seq
MIRT1025595	hsa-miR-140-3p	CLIP-seq
MIRT1025596	hsa-miR-153	CLIP-seq
MIRT1025597	hsa-miR-3121-3p	CLIP-seq
MIRT1025598	hsa-miR-3150b-3p	CLIP-seq
MIRT1025599	hsa-miR-3174	CLIP-seq
MIRT1025600	hsa-miR-3619-3p	CLIP-seq
MIRT1025601	hsa-miR-411	CLIP-seq
MIRT1025602	hsa-miR-4496	CLIP-seq
MIRT1025603	hsa-miR-4712-3p	CLIP-seq
MIRT1025604	hsa-miR-4776-5p	CLIP-seq
MIRT1025605	hsa-miR-4784	CLIP-seq
MIRT1025606	hsa-miR-4796-3p	CLIP-seq
MIRT1025607	hsa-miR-4800-5p	CLIP-seq
MIRT1025608	hsa-miR-548a-3p	CLIP-seq
MIRT1025609	hsa-miR-548e	CLIP-seq
MIRT1025610	hsa-miR-548f	CLIP-seq
MIRT1025611	hsa-miR-586	CLIP-seq
MIRT1025612	hsa-miR-1	CLIP-seq
MIRT1025613	hsa-miR-2054	CLIP-seq
MIRT1025614	hsa-miR-206	CLIP-seq
MIRT1025615	hsa-miR-219-2-3p	CLIP-seq
MIRT1025616	hsa-miR-2964a-3p	CLIP-seq
MIRT1025617	hsa-miR-302f	CLIP-seq
MIRT1025618	hsa-miR-3115	CLIP-seq
MIRT1025619	hsa-miR-3145-3p	CLIP-seq
MIRT1025620	hsa-miR-3163	CLIP-seq
MIRT1025621	hsa-miR-3166	CLIP-seq
MIRT1025622	hsa-miR-361-5p	CLIP-seq
MIRT1025623	hsa-miR-3673	CLIP-seq
MIRT1025624	hsa-miR-3944-5p	CLIP-seq
MIRT1025625	hsa-miR-3978	CLIP-seq
MIRT1025626	hsa-miR-4261	CLIP-seq
MIRT1025627	hsa-miR-432	CLIP-seq
MIRT1025628	hsa-miR-4328	CLIP-seq
MIRT1025629	hsa-miR-4506	CLIP-seq
MIRT1025630	hsa-miR-4639-5p	CLIP-seq
MIRT1025631	hsa-miR-4668-3p	CLIP-seq
MIRT1025632	hsa-miR-4680-3p	CLIP-seq
MIRT1025633	hsa-miR-4771	CLIP-seq
MIRT1025634	hsa-miR-486-5p	CLIP-seq
MIRT1025635	hsa-miR-548g	CLIP-seq
MIRT1025636	hsa-miR-613	CLIP-seq
MIRT1025637	hsa-miR-629	CLIP-seq
MIRT1025638	hsa-miR-651	CLIP-seq
MIRT1025639	hsa-miR-656	CLIP-seq
MIRT2004094	hsa-miR-570	CLIP-seq
MIRT2388554	hsa-miR-4760-5p	CLIP-seq
MIRT2450474	hsa-miR-4699-3p	CLIP-seq

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004968	Function	Gonadotropin-releasing hormone receptor activity	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	TAS	8386108
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007275	Process	Multicellular organism development	TAS	10686191
GO:0016020	Component	Membrane	TAS	9259321
GO:0042277	Function	Peptide binding	IBA	21873635
GO:0097211	Process	Cellular response to gonadotropin-releasing hormone	IEA

MIM	HGNC	e!Ensembl
138850	4421	ENSG00000109163

Protein

UniProt ID

P30968

Protein name

Gonadotropin-releasing hormone receptor (GnRH receptor) (GnRH-R)

Protein function

Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by ass

PDB

7BR3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	60 → 323	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Pituitary, ovary, testis, breast and prostate but not in liver and spleen.

Sequence

MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKL
QKWTQKKEKGKKLSRMKLLLKHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYL
KLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMVGLAWILSSVFAGPQLYIFRM
IHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRL
SDPVNHFFFLFAFLNPCFDPLIYGYFSL

Sequence length

328

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway		Hormone ligand-binding receptors G alpha (q) signalling events

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139	15625238, 9425890, 11397842, 12568864, 28611058, 10022417, 22724017, 10084584, 11994356, 10999776, 12057744, 9371856, 16968799, 12679486, 22405597 View all (14 more)
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mental depression	Depressive disorder	ClinVar
Hypogonadotropic Hypogonadism	hypogonadotropic hypogonadism 7 with or without anosmia, hypogonadotropic hypogonadism	GenCC

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenoma	Associate	11037346, 8200967
Adrenal Gland Neoplasms	Associate	24472523
Alzheimer Disease	Associate	34128468
Amenorrhea	Associate	21247312, 29182666, 38521400
Androgen Insensitivity Syndrome	Associate	34833359
Atrial Fibrillation	Associate	25706326
Bartter Syndrome	Associate	24472523
Breast Neoplasms	Associate	18584413, 22051164, 23176180, 26151677
Carcinoma Ovarian Epithelial	Associate	24767644
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	17235395
Chronic Kidney Disease Mineral and Bone Disorder	Associate	16968799
Drug Related Side Effects and Adverse Reactions	Associate	33652606
Dysmenorrhea	Associate	29182666
Endocrine System Diseases	Associate	38437850
Endometriosis	Associate	28333195
Eunuchoidism familial hypogonadotropic	Associate	29182666
Granulosa Cell Tumor	Associate	23372819
Growth Disorders	Associate	16968799, 29182666, 36371229
Growth Hormone Secreting Pituitary Adenoma	Associate	31432167
Hamartoma	Associate	20389100
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23176180
Hyperaldosteronism	Associate	24472523, 26397949, 27196470
Hypogonadism	Associate	12477532, 12568864, 12944565, 16968799, 21277937, 21717411, 22724017, 22745237, 26572316, 27544332, 28485664, 29182666, 36371229
Hypogonadism	Inhibit	38437850
Idiopathic Hypogonadotropic Hypogonadism	Associate	12477532, 16359986, 16500342, 16606836, 17235395, 21247312, 21717411, 22766261, 24002956, 25226293, 33592857, 36700485, 9418701
Immunologic Deficiency Syndromes	Associate	22745237
Infertility	Associate	12477532
Inflammation	Associate	31217010, 36806614
Leiomyoma	Associate	22901846
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Stimulate	18082732
Microphthalmia Isolated 1	Associate	26207952
Nasopharyngeal Carcinoma	Associate	26151677
Neoplasm Metastasis	Inhibit	35264044
Neoplasms	Associate	17943530, 19331222, 20182875, 23380421, 35264044, 8200967
Neurodegenerative Diseases	Associate	34128468
Neurotoxicity Syndromes	Associate	33156879
Obesity	Associate	36035370
Oligospermia	Associate	12477532, 16968799
Ovarian Neoplasms	Associate	21193558
Parkinson Disease	Associate	34128468
Pharyngeal Neoplasms	Associate	31614426
Pituitary Diseases	Associate	23341491
Pituitary Neoplasms	Associate	11037346, 8200967
Polycystic Ovary Syndrome	Associate	35872929
Primary Ovarian Insufficiency	Associate	28604625
Prostatic Neoplasms	Associate	17143537, 23380421, 31614426
Prostatitis	Associate	19331222
Puberty Delayed	Associate	16968799, 29182666
Sarcoma Endometrial Stromal	Associate	15529183
Sertoli Cell Only Syndrome	Associate	18082732
Squamous Cell Carcinoma of Head and Neck	Associate	31614426
Thyroid Hormone Resistance Selective Pituitary	Associate	23341491
Triple Negative Breast Neoplasms	Inhibit	35264044
Triple X syndrome	Associate	26572316
Urinary Bladder Neoplasms	Associate	33652606, 36806614

GNRHR (gonadotropin releasing hormone receptor)