GHRHR (growth hormone releasing hormone receptor)

Gene

• Entrez ID: 2692
• Gene name: Growth hormone releasing hormone receptor
• Gene symbol: GHRHR
• Synonyms: GHRFR, GRFR, IGHD1B, IGHD4
• Chromosome: 7
• Chromosome location: 7p14.3
• 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 k

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2302022	G>A,T	Uncertain-significance, pathogenic	Splice donor variant
rs121918117	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121918118	T>A	Pathogenic	Missense variant, coding sequence variant
rs121918119	T>G	Pathogenic	Missense variant, coding sequence variant
rs121918120	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918121	A>G	Pathogenic	Missense variant, coding sequence variant
rs146944568	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200848306	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs606231412	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs606231413	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs748432685	ACTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs779187338	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562592874	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1018503	hsa-let-7a	CLIP-seq
MIRT1018504	hsa-let-7b	CLIP-seq
MIRT1018505	hsa-let-7c	CLIP-seq
MIRT1018506	hsa-let-7d	CLIP-seq
MIRT1018507	hsa-let-7e	CLIP-seq
MIRT1018508	hsa-let-7f	CLIP-seq
MIRT1018509	hsa-let-7g	CLIP-seq
MIRT1018510	hsa-let-7i	CLIP-seq
MIRT1018511	hsa-miR-140-3p	CLIP-seq
MIRT1018512	hsa-miR-3529	CLIP-seq
MIRT1018513	hsa-miR-379	CLIP-seq
MIRT1018514	hsa-miR-3927	CLIP-seq
MIRT1018515	hsa-miR-4257	CLIP-seq
MIRT1018516	hsa-miR-4458	CLIP-seq
MIRT1018517	hsa-miR-4500	CLIP-seq
MIRT1018518	hsa-miR-98	CLIP-seq
MIRT2538701	hsa-miR-1913	CLIP-seq
MIRT2538702	hsa-miR-3130-3p	CLIP-seq
MIRT2538703	hsa-miR-324-3p	CLIP-seq
MIRT2538704	hsa-miR-4446-3p	CLIP-seq
MIRT2538705	hsa-miR-4492	CLIP-seq
MIRT2538706	hsa-miR-4498	CLIP-seq
MIRT2538707	hsa-miR-4505	CLIP-seq
MIRT2538708	hsa-miR-762	CLIP-seq
MIRT2538701	hsa-miR-1913	CLIP-seq
MIRT2538702	hsa-miR-3130-3p	CLIP-seq
MIRT2538703	hsa-miR-324-3p	CLIP-seq
MIRT2538704	hsa-miR-4446-3p	CLIP-seq
MIRT2538705	hsa-miR-4492	CLIP-seq
MIRT2538706	hsa-miR-4498	CLIP-seq
MIRT2538707	hsa-miR-4505	CLIP-seq
MIRT2538708	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IC	7680413
GO:0005515	Function	Protein binding	IPI	1333056, 7680413
GO:0005637	Component	Nuclear inner membrane	IDA	10461027
GO:0005640	Component	Nuclear outer membrane	IDA	10461027
GO:0005737	Component	Cytoplasm	IDA	10461027
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	10461027
GO:0005886	Component	Plasma membrane	TAS
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	1333056, 7680413
GO:0007190	Process	Activation of adenylate cyclase activity	IEA
GO:0007595	Process	Lactation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	12867592
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA	21873635
GO:0009986	Component	Cell surface	IDA	1333056
GO:0016021	Component	Integral component of membrane	IDA	1333056
GO:0016363	Component	Nuclear matrix	IDA	10461027
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IBA	21873635
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IMP	7680413
GO:0017046	Function	Peptide hormone binding	IBA	21873635
GO:0017046	Function	Peptide hormone binding	IPI	7680413
GO:0019838	Function	Growth factor binding	IBA	21873635
GO:0019838	Function	Growth factor binding	IPI	7680413
GO:0019933	Process	CAMP-mediated signaling	IMP	7680413
GO:0030104	Process	Water homeostasis	IEA
GO:0030141	Component	Secretory granule	IDA	10461027
GO:0032868	Process	Response to insulin	IMP	17356054
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033143	Process	Regulation of intracellular steroid hormone receptor signaling pathway	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	8528260
GO:0042383	Component	Sarcolemma	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	NAS	11773624
GO:0043627	Process	Response to estrogen	IDA	9482665
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048609	Process	Multicellular organismal reproductive process	NAS	15944917
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051384	Process	Response to glucocorticoid	IDA	9482665
GO:0060124	Process	Positive regulation of growth hormone secretion	NAS	11773624
GO:0060133	Process	Somatotropin secreting cell development	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA

Other IDs

• MIM: 139191
• HGNC: 4266
• e!Ensembl: ENSG00000106128

Protein

• UniProt ID: Q02643
• Protein name: Growth hormone-releasing hormone receptor (GHRH receptor) (Growth hormone-releasing factor receptor) (GRF receptor) (GRFR)
• Protein function: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
• PDB: 2XDG, 7CZ5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02793	HRM	52 → 115	Hormone receptor domain	Family
  PF00002	7tm_2	126 → 372	7 transmembrane receptor (Secretin family)	Family

• Sequence:

  MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWD
  GLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLA
  EEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVF
  LKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
  AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLF
  LNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPL
  ELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLT
  SMC

• Sequence length: 423

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action

Reactome:

G alpha (s) signalling events
Glucagon-type ligand receptors
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Isolated growth hormone deficiency	Isolated Growth Hormone Deficiency, Type IB, ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV, Isolated growth hormone deficiency type IB	rs797044449, rs863223308, rs121918117, rs2302022, rs121918118, rs121918119, rs121918120, rs121918121, rs2128596101, rs483352872, rs200848306, rs606231412, rs606231413, rs779187338, rs370930012, rs918108896, rs1562606449	19762173, 22139958, 9467553, 10084571, 12534354, 8528260, 11232012
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391

Unknown
Disease name	Disease term	dbSNP ID	References
Somatotropin deficiency	Somatotropin deficiency