Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.
| RefSeq Version | NM_000823.3, 297307106 |
| Length | 1607 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| 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]. |
| RefSeq | NP_000814.2 |
| CDS | 49..1320 | Exon (1) | 1..105 | Exon (2) | 1..105 | Exon (3) | 106..208 | Exon (4) | 209..316 | Exon (5) | 317..414 | Exon (6) | 415..512 | Exon (7) | 513..645 | Exon (8) | 646..799 | Exon (9) | 800..860 | Exon (10) | 861..930 | Exon (11) | 931..1022 | Exon (12) | 1023..1152 | Exon (13) | 1153..1194 | Exon (14) | 1195..1607 |
| Translation | MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWD
GLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLA
EEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVF
LKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLF
LNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPL
ELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLT
SMC
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| Position | Chain | Variation | Link |
| 4 | + | c, t | dbSNP:2302021 |
| 30 | + | a, g | dbSNP:77918686 |
| 217 | + | a, g | dbSNP:4988496 |
| 262 | + | g, t | dbSNP:121918117 |
| 285 | + | a, g | dbSNP:28371558 |
| 411 | + | g, t | dbSNP:4988498 |
| 420 | + | g, t | dbSNP:112879406 |
| 443 | + | a, t | dbSNP:77431625 |
| 479 | + | a, t | dbSNP:121918118 |
| 529..530 | + | , c | dbSNP:35515360 |
| 560 | + | c, g | dbSNP:10227922 |
| 612 | + | c, t | dbSNP:740336 |
| 713 | + | a, c | dbSNP:121918120 |
| 721 | + | a, g | dbSNP:28371560 |
| 773 | + | g, t | dbSNP:121918119 |
| 1033 | + | a, g | dbSNP:121918121 |
| 1261 | + | c, t | dbSNP:28371561 |
| 1290 | + | a, g | dbSNP:28371562 |
| 1313 | + | c, t | dbSNP:2228078 |
| 1406 | + | c, t | dbSNP:35624572 |
| 1467 | + | a, c | dbSNP:2586 |
| 1541 | + | c, t | dbSNP:28371563 |
| 1556 | + | a, c | dbSNP:28371564 |
| 1577 | + | a, c | dbSNP:78050435 |
| Gene Symbol | GHRHR |
| Gene Synonym | GHRFR; GRFR; IGHD1B |
| Chromosome | 7 |
| Locus Map | 7p14 |
| All Transcripts | NM_000823 |
| Title | MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer . |
| Author | Zhang,X., Yang,H., Lee,J.J., Kim,E., Lippman,S.M., Khuri,F.R., Spitz,M.R., Lotan,R., Hong,W.K. and Wu,X. |
| Journal | Carcinogenesis 31 (12), 2118-2123 (2010) |
| 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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