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Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.


RefSeq Accession Definition Services Price Order
NM_000823 Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. ORF Sequence $368.88
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RefSeq Version NM_000823.3, 297307106
Length 1607 bp
Structure linear
Update Date 14-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.
Product growth hormone-releasing hormone receptor precursor
Comment

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].

RefSeq NP_000814.2
CDS 49..1320
Misc Feature(1)199..>357
Misc Feature(2)424..1164
Misc Feature(3)445..504
Misc Feature(4)535..591
Misc Feature(5)661..729
Misc Feature(6)769..834
Misc Feature(7)889..960
Misc Feature(8)1036..1092
Misc Feature(9)1132..1191
Exon (1)1..105
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (2)106..208
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (3)209..316
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (4)317..414
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (5)415..512
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (6)513..645
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (7)646..799
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (8)800..860
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (9)861..930
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (10)931..1022
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (11)1023..1152
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (12)1153..1194
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Exon (13)1195..1607
Gene:GHRHR
Gene Synonym:GHRFR; GRFR; IGHD1B
Translation MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWD GLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLA EEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVF LKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLF LNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPL ELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLT SMC
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Position Chain Variation Link
4+dbSNP:
4+c, tdbSNP:2302021
28+a, gdbSNP:199748692
54+c, tdbSNP:148704543
58+c, tdbSNP:142361839
70+a, gdbSNP:151265232
77+g, tdbSNP:139599160
95+c, tdbSNP:142833343
101+c, tdbSNP:202243828
141+dbSNP:
141+c, tdbSNP:143429066
174+a, cdbSNP:146723194
183+a, tdbSNP:201978703
189+c, gdbSNP:140417128
199+a, gdbSNP:141571344
217+dbSNP:
217+a, gdbSNP:4988496
248+c, tdbSNP:201893637
262+g, tdbSNP:121918117
285+a, gdbSNP:28371558
320+dbSNP:
320+c, tdbSNP:144372265
329+a, gdbSNP:200848306
376+a, gdbSNP:149024880
384+c, tdbSNP:143017246
388+c, gdbSNP:200504469
407+c, tdbSNP:138751215
411+g, tdbSNP:4988498
420+dbSNP:
420+g, tdbSNP:112879406
451+a, gdbSNP:201267804
479+a, tdbSNP:121918118
525..526+dbSNP:
525..526+, cdbSNP:35515360
537+c, tdbSNP:147098353
538+a, gdbSNP:138615339
546+a, cdbSNP:199684610
560+c, gdbSNP:10227922
564+a, tdbSNP:150685406
576+a, gdbSNP:139700235
579+a, cdbSNP:149358069
586+c, tdbSNP:146301048
609+c, tdbSNP:200623488
612+c, tdbSNP:740336
646+dbSNP:
646+a, gdbSNP:144251858
706+c, tdbSNP:146727093
708+a, gdbSNP:145466944
713+a, cdbSNP:121918120
721+a, gdbSNP:28371560
755+c, tdbSNP:142710091
773+g, tdbSNP:121918119
789+c, tdbSNP:151019928
844+dbSNP:
844+a, gdbSNP:140869993
859+a, gdbSNP:149678088
874+dbSNP:
874+a, gdbSNP:201748357
876+c, tdbSNP:147768462
887+c, tdbSNP:141237359
933+dbSNP:
933+g, tdbSNP:146944568
962+a, gdbSNP:200472991
988+g, tdbSNP:138492645
1033+dbSNP:
1033+a, gdbSNP:121918121
1055+c, tdbSNP:149182247
1057+c, tdbSNP:202089170
1110+c, gdbSNP:143333500
1118+a, gdbSNP:201403615
1124+c, tdbSNP:200417925
1161+dbSNP:
1161+g, tdbSNP:148388986
1165+a, gdbSNP:199990600
1194+a, gdbSNP:200743419
1213+dbSNP:
1213+c, tdbSNP:200508601
1261+c, tdbSNP:28371561
1262+a, gdbSNP:189950019
1264+a, gdbSNP:141571507
1289+c, tdbSNP:146305421
1290+a, gdbSNP:28371562
1291+a, gdbSNP:142878597
1293+a, gdbSNP:181168274
1313+c, tdbSNP:2228078
1316+a, gdbSNP:139763309
1333+c, tdbSNP:142228002
1370+a, tdbSNP:200055651
1371+c, tdbSNP:185262577
1406+c, tdbSNP:35624572
1433+c, tdbSNP:190966223
1467+a, cdbSNP:2586
1541+c, tdbSNP:28371563
1556+a, cdbSNP:28371564
Gene SymbolGHRHR
Gene SynonymGHRFR; GRFR; IGHD1B
Chromosome7
Locus Map7p14
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000823 Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. Full Length $466.03
ORF Sequence $368.88
Title Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height .
Author Camats,N., Fernandez-Cancio,M., Carrascosa,A., Andaluz,P., Albisu,M.A., Clemente,M., Gussinye,M., Yeste,D. and Audi,L.
Journal Clin. Endocrinol. (Oxf) 77 (4), 564-574 (2012)
Title Expression of a splice variant of the receptor for GHRH in 3T3 fibroblasts activates cell proliferation responses to GHRH analogs .
Author Kiaris,H., Schally,A.V., Busto,R., Halmos,G., Artavanis-Tsakonas,S. and Varga,J.L.
Journal Proc. Natl. Acad. Sci. U.S.A. 99 (1), 196-200 (2002)
Title Isolation and sequencing of cDNAs for splice variants of growth hormone-releasing hormone receptors from human cancers .
Author Rekasi,Z., Czompoly,T., Schally,A.V. and Halmos,G.
Journal Proc. Natl. Acad. Sci. U.S.A. 97 (19), 10561-10566 (2000)
Title Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh .
Author Maheshwari,H.G., Silverman,B.L., Dupuis,J. and Baumann,G.
Journal J. Clin. Endocrinol. Metab. 83 (11), 4065-4074 (1998)
Title Structure and regulation of the human growth hormone-releasing hormone receptor gene .
Author Petersenn,S., Rasch,A.C., Heyens,M. and Schulte,H.M.
Journal Mol. Endocrinol. 12 (2), 233-247 (1998)
Title Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse .
Author Wajnrajch,M.P., Gertner,J.M., Harbison,M.D., Chua,S.C. Jr. and Leibel,R.L.
Journal Nat. Genet. 12 (1), 88-90 (1996)
Title Identification of alternatively spliced messenger ribonucleic acid encoding truncated growth hormone-releasing hormone receptor in human pituitary adenomas .
Author Hashimoto,K., Koga,M., Motomura,T., Kasayama,S., Kouhara,H., Ohnishi,T., Arita,N., Hayakawa,T., Sato,B. and Kishimoto,T.
Journal J. Clin. Endocrinol. Metab. 80 (10), 2933-2939 (1995)
Title Identification of human growth hormone-releasing hormone receptor splicing variants .
Author Tang,J., Lagace,G., Castagne,J. and Collu,R.
Journal J. Clin. Endocrinol. Metab. 80 (8), 2381-2387 (1995)
Title Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization .
Author Gaylinn,B.D., von Kap-Herr,C., Golden,W.L. and Thorner,M.O.
Journal Genomics 19 (1), 193-195 (1994)
Title Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone .
Author Mayo,K.E.
Journal Mol. Endocrinol. 6 (10), 1734-1744 (1992)

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