GH1 (growth hormone 1) - Rat Genome Database

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Gene: GH1 (growth hormone 1) Homo sapiens
Analyze
Symbol: GH1
Name: growth hormone 1
RGD ID: 69101
HGNC Page HGNC
Description: Exhibits growth factor activity; growth hormone receptor binding activity; and prolactin receptor binding activity. Involved in several processes, including growth hormone receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; and positive regulation of signal transduction. Localizes to extracellular space and growth hormone receptor complex. Colocalizes with collagen-containing extracellular matrix. Implicated in several diseases, including anemia (multiple); autoimmune disease of endocrine system (multiple); diabetic retinopathy; isolated growth hormone deficiency (multiple); and progeria. Biomarker of diabetes insipidus; diabetes mellitus (multiple); osteoarthritis; and severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GH; GH-N; GHB5; GHN; growth hormone B5; hGH-N; IGHD1A; IGHD1B; IGHD2; pituitary growth hormone; somatotropin
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1763,917,200 - 63,918,839 (-)EnsemblGRCh38hg38GRCh38
GRCh381763,917,203 - 63,918,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371761,994,563 - 61,996,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361759,348,295 - 59,349,930 (-)NCBINCBI36hg18NCBI36
Build 341759,348,294 - 59,349,930NCBI
Celera1756,382,602 - 56,384,237 (-)NCBI
Cytogenetic Map17q23.3NCBI
HuRef1757,362,255 - 57,363,890 (-)NCBIHuRef
CHM1_11762,058,482 - 62,060,117 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-amphetamine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-trifluoroethanol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxybutyric acid  (EXP)
4-nonylphenol  (ISO)
4-octylphenol  (ISO)
4-tert-Octylphenol  (ISO)
7,12-dimethyltetraphene  (ISO)
9-cis-retinoic acid  (ISO)
afimoxifene  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apomorphine  (EXP)
arsenous acid  (EXP)
ATP  (EXP,ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoates  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (ISO)
bromocriptine  (EXP)
butan-1-ol  (EXP)
butan-2-ol  (EXP)
butyric acid  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (ISO)
capsaicin  (ISO)
carbamazepine  (ISO)
CGP 12177  (ISO)
chlormequat chloride  (ISO)
chromium(6+)  (ISO)
clonidine  (EXP,ISO)
clonidine (amino form)  (EXP,ISO)
clonidine (imino form)  (EXP,ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (EXP,ISO)
corticotropin  (EXP)
cortisol  (EXP)
cypermethrin  (ISO)
cyproheptadine  (EXP)
D-glucose  (EXP)
dehydroepiandrosterone  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
disulfiram  (ISO)
dobutamine  (ISO)
doxorubicin  (ISO)
enalapril  (EXP)
endosulfan  (ISO)
estriol  (ISO)
ethanol  (EXP)
ethylbenzene  (ISO)
ethylene glycol  (EXP)
ethylenediaminetetraacetic acid  (ISO)
fenvalerate  (ISO)
formaldehyde  (ISO)
fulvestrant  (ISO)
glucose  (EXP)
Guanfacine  (EXP)
homocysteine  (EXP)
hydrogen sulfide  (ISO)
idazoxan  (ISO)
ionomycin  (EXP)
L-ascorbic acid  (ISO)
lead nitrate  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
lisinopril dihydrate  (ISO)
maneb  (ISO)
mephenytoin  (EXP)
monosodium L-glutamate  (ISO)
morphine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-methyl-N-nitrosourea  (ISO)
naproxen  (ISO)
nicotinic acid  (EXP)
Nivalenol  (ISO)
octreotide  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
pentetic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylarsine oxide  (EXP,ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
progesterone  (EXP,ISO)
propan-1-ol  (EXP)
propan-2-ol  (EXP)
propane-1,2-diol  (EXP)
pyridoxal 5'-phosphate  (ISO)
raloxifene  (EXP)
resveratrol  (ISO)
SB 203580  (ISO)
sirtinol  (ISO)
sodium atom  (EXP,ISO)
sulpiride  (ISO)
sumatriptan  (ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tert-butanol  (EXP)
testosterone  (EXP,ISO)
thimerosal  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP,ISO)
titanium dioxide  (ISO)
triptonide  (ISO)
urethane  (ISO)
valproic acid  (EXP)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Arcasoy A, etal., Pediatr Int. 1999 Dec;41(6):655-61.
2. Barreca T, etal., J Clin Endocrinol Metab. 1980 Dec;51(6):1279-82.
3. Besson A, etal., J Clin Endocrinol Metab. 2005 May;90(5):2493-9. Epub 2005 Feb 15.
4. Birla S, etal., Growth Horm IGF Res. 2016 Aug;29:50-6. doi: 10.1016/j.ghir.2016.04.001. Epub 2016 Apr 16.
5. Bouillon R Verh K Acad Geneeskd Belg. 1992;54(4):365-91; discussion 391-2.
6. Castagnino HE, etal., Neuro Endocrinol Lett. 2002 Oct-Dec;23(5-6):391-5.
7. Cocco C, etal., Autoimmunity. 2012 Sep;45(6):485-94. doi: 10.3109/08916934.2012.680632. Epub 2012 May 18.
8. de Almeida Leme JA, etal., Pituitary. 2009;12(4):304-8. Epub 2009 Apr 16.
9. Dequeker J, etal., Horm Res. 1982;16(6):353-6.
10. Ekenstedt KJ, etal., Arthritis Rheum. 2006 Dec;54(12):3850-8.
11. Flavell DM, etal., EMBO J. 1996 Aug 1;15(15):3871-9.
12. GOA_HUMAN data from the GO Consortium
13. Guo X, etal., Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2001 Dec;15(4):339-41.
14. Hao Y, etal., Chin J Traumatol. 2001 May;4(2):102-5.
15. Horner JM, etal., J Clin Endocrinol Metab. 1981 Dec;53(6):1148-53.
16. Howell JC, etal., Pediatr Blood Cancer. 2015 Mar;62(3):402-8. doi: 10.1002/pbc.25341. Epub 2014 Dec 9.
17. Leheup BP, etal., J Endocrinol Invest. 1991 Jan;14(1):37-40.
18. Li W, etal., Zhonghua Yi Xue Za Zhi. 1998 Jun;78(6):413-5.
19. Locatelli V, etal., Brain Res. 1985 Aug 19;341(1):35-40.
20. Lopez-Espinoza I, etal., Diabetes Res. 1986 Mar;3(3):119-25.
21. Madeira JL, etal., Eur J Endocrinol. 2016 Aug;175(2):K7-K15. doi: 10.1530/EJE-15-0149. Epub 2016 Jun 1.
22. Marino G, etal., Proc Natl Acad Sci U S A. 2010 Sep 14;107(37):16268-73. doi: 10.1073/pnas.1002696107. Epub 2010 Aug 30.
23. Moell C, etal., Arch Dis Child. 1989 Feb;64(2):252-8.
24. Molina G, etal., J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1143-55.
25. Navalesi R, etal., Diabetes. 1975 Apr;24(4):317-27.
26. Nogami H, etal., Endocrinology. 1989 Aug;125(2):964-70.
27. Okazaki K, etal., Endocrinology. 1999 Oct;140(10):4821-30.
28. OMIM Disease Annotation Pipeline
29. Online Mendelian Inheritance in Man, OMIM (TM).
30. Pipeline to import KEGG annotations from KEGG into RGD
31. Pontiroli AE, etal., J Endocrinol Invest. 1988 May;11(5):389-91.
32. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. RGD automated import pipeline for gene-chemical interactions
34. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
35. Rose DP, etal., Anticancer Res. 1983 Sep-Oct;3(5):323-5.
36. Saceda J, etal., Neurosci Lett. 2011 Oct 24;504(2):146-50. doi: 10.1016/j.neulet.2011.09.020. Epub 2011 Sep 17.
37. Santos DP, etal., Growth Horm IGF Res. 2010 Apr;20(2):149-55. doi: 10.1016/j.ghir.2009.11.007. Epub 2010 Jan 8.
38. Serri O and Brazeau P, Neuroendocrinology. 1987 Aug;46(2):162-6.
39. Shen Q, etal., Endocrinology. 2007 Oct;148(10):4536-44. Epub 2007 Jun 21.
40. Sohmiya M and Kato Y, Clin Endocrinol (Oxf). 2001 Dec;55(6):749-54.
41. Song CJ, etal., Int J Clin Exp Med. 2015 Jul 15;8(7):10411-9. eCollection 2015.
42. Takahashi Y, etal., J Clin Invest. 1997 Sep 1;100(5):1159-65.
43. Takeuchi T, etal., Endocrinology. 1990 Jan;126(1):31-8.
44. Tang H, etal., J Neurosci Res. 2011 Feb;89(2):248-55. doi: 10.1002/jnr.22540. Epub 2010 Dec 8.
45. Vanelli M, etal., J Endocrinol Invest. 1986 Aug;9(4):293-7.
46. Wassenaar MJ, etal., J Clin Endocrinol Metab. 2009 Dec;94(12):4671-8. doi: 10.1210/jc.2009-1172. Epub 2009 Oct 28.
47. Wei L, etal., Biochem Cell Biol. 2010 Aug;88(4):723-30. doi: 10.1139/O10-022.
48. Wolf N, etal., Exp Eye Res. 2005 Sep;81(3):276-85.
49. Yigiter M, etal., Eur J Obstet Gynecol Reprod Biol. 2011 Jul;157(1):94-100. doi: 10.1016/j.ejogrb.2011.02.012. Epub 2011 Mar 25.
50. Ziaei M, etal., Neurosci Lett. 2009 Aug 21;460(1):87-91. Epub 2009 May 20.
Additional References at PubMed
PMID:377496   PMID:386281   PMID:1322425   PMID:1549776   PMID:1634529   PMID:1980158   PMID:2180927   PMID:2744760   PMID:2820841   PMID:2825030   PMID:3004851   PMID:3162714  
PMID:3447173   PMID:3912261   PMID:4675454   PMID:5144027   PMID:5279046   PMID:5279528   PMID:5810834   PMID:6262212   PMID:6269091   PMID:6303755   PMID:6306568   PMID:6357679  
PMID:7028740   PMID:7072716   PMID:7169009   PMID:7356479   PMID:7462247   PMID:7535773   PMID:7565946   PMID:7714096   PMID:7782332   PMID:7862673   PMID:7984244   PMID:8063815  
PMID:8364549   PMID:8496314   PMID:8530604   PMID:8552145   PMID:8674830   PMID:8923468   PMID:8943276   PMID:9144201   PMID:9175738   PMID:9353194   PMID:9360546   PMID:9556914  
PMID:9571026   PMID:10391209   PMID:10445339   PMID:10469016   PMID:10689634   PMID:10890569   PMID:10931946   PMID:11502836   PMID:11549663   PMID:11773624   PMID:11836331   PMID:11864603  
PMID:11904318   PMID:11914025   PMID:11916628   PMID:11994274   PMID:12000366   PMID:12198566   PMID:12240900   PMID:12428212   PMID:12435888   PMID:12445833   PMID:12477932   PMID:12552091  
PMID:12566947   PMID:12574219   PMID:12590639   PMID:12592062   PMID:12655556   PMID:12655557   PMID:12666876   PMID:12720086   PMID:12721156   PMID:12930995   PMID:14559725   PMID:14595650  
PMID:14631161   PMID:14671660   PMID:14673137   PMID:14761840   PMID:14988388   PMID:14997482   PMID:14998943   PMID:15001589   PMID:15004410   PMID:15044591   PMID:15070916   PMID:15118263  
PMID:15241820   PMID:15353581   PMID:15472182   PMID:15473132   PMID:15476590   PMID:15489334   PMID:15545704   PMID:15591149   PMID:15591764   PMID:15638293   PMID:15691369   PMID:15701573  
PMID:15741328   PMID:15755445   PMID:15784718   PMID:15844470   PMID:15857837   PMID:15950665   PMID:16083754   PMID:16102809   PMID:16109534   PMID:16133148   PMID:16213174   PMID:16214911  
PMID:16284391   PMID:16322331   PMID:16322384   PMID:16331968   PMID:16352683   PMID:16368751   PMID:16368752   PMID:16384844   PMID:16424673   PMID:16491012   PMID:16517055   PMID:16543404  
PMID:16564564   PMID:16572267   PMID:16762973   PMID:16807684   PMID:16845601   PMID:16914737   PMID:17019066   PMID:17038549   PMID:17044098   PMID:17047377   PMID:17082888   PMID:17090643  
PMID:17116217   PMID:17211256   PMID:17211558   PMID:17223997   PMID:17234973   PMID:17272397   PMID:17272398   PMID:17353931   PMID:17357792   PMID:17392003   PMID:17395896   PMID:17400806  
PMID:17405836   PMID:17479231   PMID:17492509   PMID:17496728   PMID:17500058   PMID:17534663   PMID:17636034   PMID:17693614   PMID:17697029   PMID:17726075   PMID:17785368   PMID:17922505  
PMID:17927666   PMID:17936052   PMID:17975128   PMID:17998942   PMID:18004746   PMID:18047908   PMID:18054353   PMID:18082739   PMID:18160466   PMID:18178497   PMID:18187617   PMID:18299463  
PMID:18409193   PMID:18413425   PMID:18423883   PMID:18432585   PMID:18461004   PMID:18462969   PMID:18464752   PMID:18482854   PMID:18499741   PMID:18504173   PMID:18537700   PMID:18554279  
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PMID:18800374   PMID:18831980   PMID:18950677   PMID:18974274   PMID:18992148   PMID:19010462   PMID:19016004   PMID:19022915   PMID:19051037   PMID:19058314   PMID:19064544   PMID:19067728  
PMID:19075184   PMID:19077426   PMID:19092717   PMID:19094740   PMID:19095751   PMID:19123788   PMID:19144755   PMID:19180878   PMID:19207478   PMID:19278522   PMID:19293581   PMID:19386527  
PMID:19404232   PMID:19407495   PMID:19421410   PMID:19429121   PMID:19453261   PMID:19472088   PMID:19480608   PMID:19491373   PMID:19500600   PMID:19543094   PMID:19567515   PMID:19567534  
PMID:19568604   PMID:19579232   PMID:19587145   PMID:19603307   PMID:19698976   PMID:19761807   PMID:19772878   PMID:19773097   PMID:19773279   PMID:19797429   PMID:19813164   PMID:19837935  
PMID:19845749   PMID:19913121   PMID:19916171   PMID:19952226   PMID:19955757   PMID:19955758   PMID:20002733   PMID:20020582   PMID:20049531   PMID:20110402   PMID:20132087   PMID:20150954  
PMID:20164039   PMID:20164294   PMID:20168335   PMID:20190159   PMID:20190537   PMID:20222001   PMID:20233782   PMID:20333869   PMID:20351314   PMID:20395397   PMID:20403354   PMID:20405138  
PMID:20418654   PMID:20426845   PMID:20427283   PMID:20453000   PMID:20472479   PMID:20472480   PMID:20483505   PMID:20580999   PMID:20592127   PMID:20598930   PMID:20628086   PMID:20650818  
PMID:20651469   PMID:20651471   PMID:20682777   PMID:20734064   PMID:20801067   PMID:20820130   PMID:20858702   PMID:20863500   PMID:21212012   PMID:21249719   PMID:21273694   PMID:21273761  
PMID:21274339   PMID:21277631   PMID:21347581   PMID:21415161   PMID:21459126   PMID:21502796   PMID:21535073   PMID:21554434   PMID:21632809   PMID:21667426   PMID:21679697   PMID:21705979  
PMID:21711161   PMID:21711374   PMID:21741628   PMID:21777655   PMID:21849508   PMID:21852148   PMID:21856788   PMID:21856789   PMID:21873635   PMID:21933221   PMID:21944866   PMID:21958002  
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PMID:22386777   PMID:22431516   PMID:22465725   PMID:22524398   PMID:22664570   PMID:22669946   PMID:22672824   PMID:22833680   PMID:22952901   PMID:22972178   PMID:23178941   PMID:23182822  
PMID:23182825   PMID:23208451   PMID:23238889   PMID:23281720   PMID:23417163   PMID:23419423   PMID:23428872   PMID:23438236   PMID:23452315   PMID:23567159   PMID:23640965   PMID:23700319  
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PMID:31287951   PMID:31835104   PMID:32218464   PMID:33419306   PMID:33687272   PMID:33799503   PMID:33952498  


Genomics

Comparative Map Data
GH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1763,917,200 - 63,918,839 (-)EnsemblGRCh38hg38GRCh38
GRCh381763,917,203 - 63,918,839 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371761,994,563 - 61,996,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361759,348,295 - 59,349,930 (-)NCBINCBI36hg18NCBI36
Build 341759,348,294 - 59,349,930NCBI
Celera1756,382,602 - 56,384,237 (-)NCBI
Cytogenetic Map17q23.3NCBI
HuRef1757,362,255 - 57,363,890 (-)NCBIHuRef
CHM1_11762,058,482 - 62,060,117 (-)NCBICHM1_1
Gh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911106,191,087 - 106,194,529 (-)NCBIGRCm39mm39
GRCm39 Ensembl11106,191,097 - 106,192,691 (-)Ensembl
GRCm3811106,300,261 - 106,303,703 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11106,300,271 - 106,301,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711106,161,582 - 106,163,124 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611106,116,358 - 106,117,900 (-)NCBImm8
Celera11118,030,755 - 118,032,297 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1168.89NCBI
Gh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21091,228,102 - 91,230,079 (-)NCBI
Rnor_6.0 Ensembl1094,486,205 - 94,488,180 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01094,486,204 - 94,488,181 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01094,237,414 - 94,239,391 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41095,692,240 - 95,694,117 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11095,708,476 - 95,710,261 (-)NCBI
Celera1089,903,834 - 89,905,811 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
LOC100971425
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11763,103,339 - 63,105,719 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01758,010,848 - 58,013,421 (-)NCBIMhudiblu_PPA_v0panPan3
LOC101969021
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560214,668,568 - 14,670,240 (+)NCBI
SpeTri2.0NW_0049365414,524,397 - 4,528,234 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0

Position Markers
RH93308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,996,272 - 61,996,406UniSTSGRCh37
GRCh371761,988,692 - 61,988,826UniSTSGRCh37
Build 361759,342,424 - 59,342,558RGDNCBI36
Celera1756,376,741 - 56,376,875RGD
Celera1756,384,311 - 56,384,445UniSTS
Cytogenetic Map17q24.2UniSTS
HuRef1757,356,394 - 57,356,528UniSTS
HuRef1757,363,964 - 57,364,098UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
G44343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,996,130 - 61,996,254UniSTSGRCh37
Build 361759,349,862 - 59,349,986RGDNCBI36
Celera1756,384,169 - 56,384,293RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,363,822 - 57,363,946UniSTS
D17S1285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,172 - 61,995,284UniSTSGRCh37
Build 361759,348,904 - 59,349,016RGDNCBI36
Celera1756,383,211 - 56,383,323RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,362,864 - 57,362,976UniSTS
RH77971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,994,603 - 61,994,742UniSTSGRCh37
Build 361759,348,335 - 59,348,474RGDNCBI36
Celera1756,382,642 - 56,382,781RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,362,295 - 57,362,434UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
PMC134699P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,139 - 61,995,490UniSTSGRCh37
GRCh371761,987,541 - 61,987,893UniSTSGRCh37
Build 361759,341,273 - 59,341,625RGDNCBI36
Celera1756,375,590 - 56,375,942RGD
Celera1756,383,178 - 56,383,529UniSTS
Cytogenetic Map17q24.2UniSTS
HuRef1757,355,243 - 57,355,595UniSTS
HuRef1757,362,831 - 57,363,182UniSTS
PMC134699P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,205 - 61,995,407UniSTSGRCh37
Build 361759,348,937 - 59,349,139RGDNCBI36
Celera1756,383,244 - 56,383,446RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,362,897 - 57,363,099UniSTS
PMC84908P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,995,377 - 61,996,176UniSTSGRCh37
Build 361759,349,109 - 59,349,908RGDNCBI36
Celera1756,383,416 - 56,384,215RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,363,069 - 57,363,868UniSTS
STS-J03756  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q24.2UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
NCBI RH Map17675.8UniSTS
GHI  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371761,958,200 - 61,958,845UniSTSGRCh37
GRCh371761,995,188 - 61,995,832UniSTSGRCh37
Celera1756,346,282 - 56,346,927UniSTS
Celera1756,383,227 - 56,383,871UniSTS
HuRef1757,362,880 - 57,363,524UniSTS
HuRef1757,325,853 - 57,326,498UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1548
Count of miRNA genes:430
Interacting mature miRNAs:457
Transcripts:ENST00000323322, ENST00000342364, ENST00000351388, ENST00000458650, ENST00000579711
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 3 1 279 6 2 278 2 1 1 5
Medium 204 202 181 55 154 40 317 124 282 9 187 168 15 108 215
Low 1008 1038 540 192 707 107 1699 816 1256 61 695 571 85 556 1068 1
Below cutoff 722 1087 338 165 490 110 1709 870 872 109 298 412 55 453 1082 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A00469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A12770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF110644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF185611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV749353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV753220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY613431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY613432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD108592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU421712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LM644140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V00520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323322   ⟹   ENSP00000312673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1763,917,203 - 63,918,839 (-)Ensembl
RefSeq Acc Id: ENST00000342364   ⟹   ENSP00000339278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1763,917,203 - 63,918,838 (-)Ensembl
RefSeq Acc Id: ENST00000351388   ⟹   ENSP00000343791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1763,917,200 - 63,918,818 (-)Ensembl
RefSeq Acc Id: ENST00000458650   ⟹   ENSP00000408486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1763,917,203 - 63,918,817 (-)Ensembl
RefSeq Acc Id: ENST00000579711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1763,917,494 - 63,918,668 (-)Ensembl
RefSeq Acc Id: ENST00000617086   ⟹   ENSP00000481276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1763,917,203 - 63,918,838 (-)Ensembl
RefSeq Acc Id: NM_000515   ⟹   NP_000506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,917,203 - 63,918,839 (-)NCBI
GRCh371761,994,560 - 61,996,206 (-)NCBI
Build 361759,348,295 - 59,349,930 (-)NCBI Archive
HuRef1757,362,255 - 57,363,890 (-)ENTREZGENE
CHM1_11762,058,472 - 62,060,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022559   ⟹   NP_072053
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,917,203 - 63,918,839 (-)NCBI
GRCh371761,994,560 - 61,996,206 (-)NCBI
Build 361759,348,295 - 59,349,930 (-)NCBI Archive
HuRef1757,362,255 - 57,363,890 (-)ENTREZGENE
CHM1_11762,058,472 - 62,060,131 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022560   ⟹   NP_072054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,917,203 - 63,918,839 (-)NCBI
GRCh371761,994,560 - 61,996,206 (-)NCBI
Build 361759,348,295 - 59,349,930 (-)NCBI Archive
HuRef1757,362,255 - 57,363,890 (-)ENTREZGENE
CHM1_11762,058,472 - 62,060,131 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000506 (Get FASTA)   NCBI Sequence Viewer  
  NP_072053 (Get FASTA)   NCBI Sequence Viewer  
  NP_072054 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52549 (Get FASTA)   NCBI Sequence Viewer  
  AAA52554 (Get FASTA)   NCBI Sequence Viewer  
  AAA98618 (Get FASTA)   NCBI Sequence Viewer  
  AAD48584 (Get FASTA)   NCBI Sequence Viewer  
  AAG09699 (Get FASTA)   NCBI Sequence Viewer  
  AAH62475 (Get FASTA)   NCBI Sequence Viewer  
  AAH75012 (Get FASTA)   NCBI Sequence Viewer  
  AAH75013 (Get FASTA)   NCBI Sequence Viewer  
  AAH90045 (Get FASTA)   NCBI Sequence Viewer  
  AAT11508 (Get FASTA)   NCBI Sequence Viewer  
  AAT11509 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88711 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88712 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88713 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88714 (Get FASTA)   NCBI Sequence Viewer  
  ABZ88715 (Get FASTA)   NCBI Sequence Viewer  
  CAA00065 (Get FASTA)   NCBI Sequence Viewer  
  CAA01057 (Get FASTA)   NCBI Sequence Viewer  
  CAA23778 (Get FASTA)   NCBI Sequence Viewer  
  CAA23779 (Get FASTA)   NCBI Sequence Viewer  
  CDW51387 (Get FASTA)   NCBI Sequence Viewer  
  EAW94233 (Get FASTA)   NCBI Sequence Viewer  
  EAW94239 (Get FASTA)   NCBI Sequence Viewer  
  EAW94251 (Get FASTA)   NCBI Sequence Viewer  
  EAW94261 (Get FASTA)   NCBI Sequence Viewer  
  P01241 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_072054   ⟸   NM_022560
- Peptide Label: isoform 3 precursor
- UniProtKB: P01241 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_072053   ⟸   NM_022559
- Peptide Label: isoform 2 precursor
- UniProtKB: P01241 (UniProtKB/Swiss-Prot),   B1A4G7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000506   ⟸   NM_000515
- Peptide Label: isoform 1 precursor
- UniProtKB: P01241 (UniProtKB/Swiss-Prot),   B1A4G6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000312673   ⟸   ENST00000323322
RefSeq Acc Id: ENSP00000408486   ⟸   ENST00000458650
RefSeq Acc Id: ENSP00000343791   ⟸   ENST00000351388
RefSeq Acc Id: ENSP00000481276   ⟸   ENST00000617086
RefSeq Acc Id: ENSP00000339278   ⟸   ENST00000342364

Promoters
RGD ID:6850022
Promoter ID:EP11125
Type:single initiation site
Name:HS_GH1
Description:Growth hormone, GH1 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 44; Mammalian growth hormone.
Tissues & Cell Lines:pituitary
Experiment Methods:Nuclease protection; RNA sequencing by primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361759,349,930 - 59,349,990EPD
RGD ID:7236005
Promoter ID:EPDNEW_H23747
Type:initiation region
Name:GH1_1
Description:growth hormone 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23749  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381763,918,838 - 63,918,898EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GH1, 2-BP DEL, FS132TER deletion Ateleiotic dwarfism [RCV000017332] Chr17:17q22-q24 pathogenic
GH1, 6.7-KB DEL deletion Ateleiotic dwarfism [RCV000017334] Chr17:17q22-q24 pathogenic
GH1, 1-BP DEL, 371C deletion Ateleiotic dwarfism [RCV000017335] Chr17:17q22-q24 pathogenic
NM_000515.5(GH1):c.456+1G>C single nucleotide variant Isolated growth hormone deficiency type IB [RCV000017336] Chr17:63917759 [GRCh38]
Chr17:61995119 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.456+1G>T single nucleotide variant Isolated growth hormone deficiency type IB [RCV000017337] Chr17:63917759 [GRCh38]
Chr17:61995119 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.291+6T>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017338] Chr17:63918011 [GRCh38]
Chr17:61995371 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.291+1G>A single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017340] Chr17:63918016 [GRCh38]
Chr17:61995376 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.291+1G>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017341] Chr17:63918016 [GRCh38]
Chr17:61995376 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.291+28G>A single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017342] Chr17:63917989 [GRCh38]
Chr17:61995349 [GRCh37]
Chr17:17q23.3
pathogenic
GH1, IVS3DS, 18-BP DEL, +28-45 deletion Autosomal dominant isolated somatotropin deficiency [RCV000017343] Chr17:17q22-q24 pathogenic
NM_000515.5(GH1):c.291+5G>A single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017345] Chr17:63918012 [GRCh38]
Chr17:61995372 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.456+5G>C single nucleotide variant Isolated growth hormone deficiency type IB [RCV000017346] Chr17:63917755 [GRCh38]
Chr17:61995115 [GRCh37]
Chr17:17q23.3
pathogenic
GH1, EX3, A-G, +5 single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017347] Chr17:17q22-q24 pathogenic
GH1, EX3DEL deletion Autosomal dominant isolated somatotropin deficiency [RCV000017348] Chr17:17q22-q24 pathogenic
NM_000515.5(GH1):c.172-2A>T single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017349] Chr17:63918138 [GRCh38]
Chr17:61995498 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.291+2T>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017350]|not provided [RCV000711802] Chr17:63918015 [GRCh38]
Chr17:61995375 [GRCh37]
Chr17:17q23.3
pathogenic
GH1, IVS3, 22-BP DEL deletion Autosomal dominant isolated somatotropin deficiency [RCV000017352] Chr17:17q22-q24 pathogenic
GH1, EX3, A-C, +2 single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017354] Chr17:17q22-q24 pathogenic
GH1, EX3, G-A, +1 single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017355] Chr17:17q22-q24 pathogenic
NM_000515.5(GH1):c.59G>A (p.Trp20Ter) single nucleotide variant Ateleiotic dwarfism [RCV000017333] Chr17:63918458 [GRCh38]
Chr17:61995818 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.307C>T (p.Arg103Cys) single nucleotide variant Short stature due to growth hormone qualitative anomaly [RCV000017339] Chr17:63917909 [GRCh38]
Chr17:61995269 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.413A>G (p.Asp138Gly) single nucleotide variant Short stature due to growth hormone qualitative anomaly [RCV000017344] Chr17:63917803 [GRCh38]
Chr17:61995163 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.236G>C (p.Cys79Ser) single nucleotide variant Short stature due to growth hormone qualitative anomaly [RCV000017351] Chr17:63918072 [GRCh38]
Chr17:61995432 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.626G>A (p.Arg209His) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000017353]|not provided [RCV000992079] Chr17:63917337 [GRCh38]
Chr17:61994697 [GRCh37]
Chr17:17q23.3
pathogenic|likely pathogenic
NM_000515.4(GH1):c.291+1G>C single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000029935] Chr17:63918016 [GRCh38]
Chr17:61995376 [GRCh37]
Chr17:17q23.3
pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 copy number gain See cases [RCV000052485] Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24
pathogenic
NM_000515.5(GH1):c.150C>A (p.Ala50=) single nucleotide variant Growth hormone deficiency [RCV001122918]|not provided [RCV000872442]|not specified [RCV000175614] Chr17:63918367 [GRCh38]
Chr17:61995727 [GRCh37]
Chr17:17q23.3
benign|uncertain significance
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV000990051]|Growth hormone deficiency [RCV001122917]|not provided [RCV000872441]|not specified [RCV000175615] Chr17:63918365 [GRCh38]
Chr17:61995725 [GRCh37]
Chr17:17q23.3
benign|likely benign
NM_000515.5(GH1):c.406G>A (p.Val136Ile) single nucleotide variant Growth hormone deficiency [RCV001128609]|not provided [RCV000421927]|not specified [RCV000178109] Chr17:63917810 [GRCh38]
Chr17:61995170 [GRCh37]
Chr17:17q23.3
benign|likely benign|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_000515.5(GH1):c.387C>T (p.Tyr129=) single nucleotide variant Growth hormone deficiency [RCV001128610]|not provided [RCV000178108] Chr17:63917829 [GRCh38]
Chr17:61995189 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.370G>A (p.Ala124Thr) single nucleotide variant not provided [RCV000724303] Chr17:63917846 [GRCh38]
Chr17:61995206 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.116C>T (p.Ala39Val) single nucleotide variant Growth hormone deficiency [RCV000363532]|not provided [RCV000870866]|not specified [RCV000300522] Chr17:63918401 [GRCh38]
Chr17:61995761 [GRCh37]
Chr17:17q23.3
benign|likely benign|uncertain significance
GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 copy number gain See cases [RCV000240364] Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3
pathogenic
NM_000515.5(GH1):c.-27G>T single nucleotide variant Growth hormone deficiency [RCV000265811] Chr17:63918803 [GRCh38]
Chr17:61996163 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.66A>G (p.Gln22=) single nucleotide variant Growth hormone deficiency [RCV000266675] Chr17:63918451 [GRCh38]
Chr17:61995811 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.127G>A (p.Ala43Thr) single nucleotide variant Growth hormone deficiency [RCV000306584]|not provided [RCV001358405] Chr17:63918390 [GRCh38]
Chr17:61995750 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.-4T>G single nucleotide variant Ateleiotic dwarfism [RCV000576459]|Growth hormone deficiency [RCV000357936] Chr17:63918780 [GRCh38]
Chr17:61996140 [GRCh37]
Chr17:17q23.3
benign|likely benign
NM_000515.5(GH1):c.547C>T (p.Leu183Phe) single nucleotide variant not provided [RCV000303892] Chr17:63917416 [GRCh38]
Chr17:61994776 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.291+8G>T single nucleotide variant Growth hormone deficiency [RCV000364589] Chr17:63918009 [GRCh38]
Chr17:61995369 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.134G>A (p.Arg45His) single nucleotide variant Growth hormone deficiency [RCV000398141] Chr17:63918383 [GRCh38]
Chr17:61995743 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.16C>A (p.Arg6=) single nucleotide variant Growth hormone deficiency [RCV000324175]|not provided [RCV000594351] Chr17:63918501 [GRCh38]
Chr17:61995861 [GRCh37]
Chr17:17q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) single nucleotide variant Ateleiotic dwarfism [RCV000576669]|Growth hormone deficiency [RCV001126654]|not provided [RCV000864318]|not specified [RCV000354911] Chr17:63918770 [GRCh38]
Chr17:61996130 [GRCh37]
Chr17:17q23.3
benign|likely benign
NM_000515.5(GH1):c.292-15G>A single nucleotide variant Growth hormone deficiency [RCV000312365] Chr17:63917939 [GRCh38]
Chr17:61995299 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.563T>C (p.Leu188Pro) single nucleotide variant Growth hormone deficiency [RCV000390799] Chr17:63917400 [GRCh38]
Chr17:61994760 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.478C>T (p.Arg160Trp) single nucleotide variant Growth hormone deficiency [RCV000294515] Chr17:63917485 [GRCh38]
Chr17:61994845 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.-60G>C single nucleotide variant Growth hormone deficiency [RCV000318527] Chr17:63918836 [GRCh38]
Chr17:61996196 [GRCh37]
Chr17:17q23.3
benign|likely benign
NM_000515.5(GH1):c.456+12G>A single nucleotide variant Growth hormone deficiency [RCV000351723] Chr17:63917748 [GRCh38]
Chr17:61995108 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) single nucleotide variant not provided [RCV000870513]|not specified [RCV000336011] Chr17:63917853 [GRCh38]
Chr17:61995213 [GRCh37]
Chr17:17q23.3
benign|likely benign
NM_000515.5(GH1):c.-63A>C single nucleotide variant Isolated growth hormone deficiency [RCV000343147] Chr17:63918839 [GRCh38]
Chr17:61996199 [GRCh37]
Chr17:17q23.3
likely benign
NM_000515.5(GH1):c.7A>C (p.Thr3Pro) single nucleotide variant not provided [RCV000521816] Chr17:63918770 [GRCh38]
Chr17:61996130 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.4(GH1):c.-68A>G single nucleotide variant Isolated growth hormone deficiency [RCV000399451] Chr17:63918844 [GRCh38]
Chr17:61996204 [GRCh37]
Chr17:17q23.3
likely benign
NM_000515.5(GH1):c.309C>T (p.Arg103=) single nucleotide variant Isolated growth hormone deficiency [RCV000398146] Chr17:63917907 [GRCh38]
Chr17:61995267 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.-63A>T single nucleotide variant Isolated growth hormone deficiency [RCV000302385] Chr17:63918839 [GRCh38]
Chr17:61996199 [GRCh37]
Chr17:17q23.3
likely benign
NM_000515.5(GH1):c.291+6T>G single nucleotide variant not provided [RCV000598671] Chr17:63918011 [GRCh38]
Chr17:61995371 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.597C>G (p.Val199=) single nucleotide variant Growth hormone deficiency [RCV001123896]|not provided [RCV000735049] Chr17:63917366 [GRCh38]
Chr17:61994726 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.15C>T (p.Ser5=) single nucleotide variant Growth hormone deficiency [RCV001126653]|not provided [RCV000731183] Chr17:63918502 [GRCh38]
Chr17:61995862 [GRCh37]
Chr17:17q23.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_000515.5(GH1):c.217A>G (p.Asn73Asp) single nucleotide variant Ateleiotic dwarfism [RCV001262326]|not provided [RCV000734490] Chr17:63918091 [GRCh38]
Chr17:61995451 [GRCh37]
Chr17:17q23.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000515.5(GH1):c.615C>G (p.Ile205Met) single nucleotide variant not provided [RCV000594175] Chr17:63917348 [GRCh38]
Chr17:61994708 [GRCh37]
Chr17:17q23.3
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000515.5(GH1):c.456+18G>T single nucleotide variant not provided [RCV000711803] Chr17:63917742 [GRCh38]
Chr17:61995102 [GRCh37]
Chr17:17q23.3
benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000515.5(GH1):c.379C>T (p.Leu127=) single nucleotide variant not provided [RCV000896438] Chr17:63917837 [GRCh38]
Chr17:61995197 [GRCh37]
Chr17:17q23.3
likely benign
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 copy number gain not provided [RCV000752158] Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2
pathogenic
NM_000515.5(GH1):c.447G>A (p.Thr149=) single nucleotide variant Growth hormone deficiency [RCV001128608]|not provided [RCV000870671] Chr17:63917769 [GRCh38]
Chr17:61995129 [GRCh37]
Chr17:17q23.3
benign|likely benign
NM_000515.5(GH1):c.450G>C (p.Leu150=) single nucleotide variant not provided [RCV000898271] Chr17:63917766 [GRCh38]
Chr17:61995126 [GRCh37]
Chr17:17q23.3
likely benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
NM_000515.5(GH1):c.171+10del deletion not provided [RCV000898488] Chr17:63918336 [GRCh38]
Chr17:61995696 [GRCh37]
Chr17:17q23.3
likely benign
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
NM_000515.5(GH1):c.363T>C (p.Ser121=) single nucleotide variant Growth hormone deficiency [RCV001128611] Chr17:63917853 [GRCh38]
Chr17:61995213 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.457A>G (p.Arg153Gly) single nucleotide variant Growth hormone deficiency [RCV001126548] Chr17:63917506 [GRCh38]
Chr17:61994866 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.-40C>T single nucleotide variant Growth hormone deficiency [RCV001126656] Chr17:63918816 [GRCh38]
Chr17:61996176 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.546A>G (p.Leu182=) single nucleotide variant Growth hormone deficiency [RCV001126544]|not provided [RCV000873250] Chr17:63917417 [GRCh38]
Chr17:61994777 [GRCh37]
Chr17:17q23.3
likely benign|uncertain significance
NM_000515.5(GH1):c.559G>A (p.Gly187Arg) single nucleotide variant Growth hormone deficiency [RCV001126543] Chr17:63917404 [GRCh38]
Chr17:61994764 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.246G>C (p.Glu82Asp) single nucleotide variant Growth hormone deficiency [RCV001122914]|Isolated growth hormone deficiency type IB [RCV001332506] Chr17:63918062 [GRCh38]
Chr17:61995422 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.115G>A (p.Ala39Thr) single nucleotide variant Growth hormone deficiency [RCV001123981] Chr17:63918402 [GRCh38]
Chr17:61995762 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.84A>G (p.Pro28=) single nucleotide variant Growth hormone deficiency [RCV001123982] Chr17:63918433 [GRCh38]
Chr17:61995793 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.171+6C>T single nucleotide variant Growth hormone deficiency [RCV001122915] Chr17:63918340 [GRCh38]
Chr17:61995700 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.561G>A (p.Gly187=) single nucleotide variant Growth hormone deficiency [RCV001123897] Chr17:63917402 [GRCh38]
Chr17:61994762 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.55C>T (p.Pro19Ser) single nucleotide variant Growth hormone deficiency [RCV001123983] Chr17:63918462 [GRCh38]
Chr17:61995822 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.352T>C (p.Phe118Leu) single nucleotide variant Growth hormone deficiency [RCV001128612] Chr17:63917864 [GRCh38]
Chr17:61995224 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.350A>G (p.Gln117Arg) single nucleotide variant Growth hormone deficiency [RCV001128613] Chr17:63917866 [GRCh38]
Chr17:61995226 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.328C>G (p.Gln110Glu) single nucleotide variant Growth hormone deficiency [RCV001128614] Chr17:63917888 [GRCh38]
Chr17:61995248 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.535G>C (p.Asp179His) single nucleotide variant Growth hormone deficiency [RCV001126545] Chr17:63917428 [GRCh38]
Chr17:61994788 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.470G>A (p.Gly157Asp) single nucleotide variant Growth hormone deficiency [RCV001126546] Chr17:63917493 [GRCh38]
Chr17:61994853 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.-38A>C single nucleotide variant Growth hormone deficiency [RCV001126655] Chr17:63918814 [GRCh38]
Chr17:61996174 [GRCh37]
Chr17:17q23.3
benign
NM_000515.5(GH1):c.468T>C (p.Asp156=) single nucleotide variant Growth hormone deficiency [RCV001126547] Chr17:63917495 [GRCh38]
Chr17:61994855 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.21G>A (p.Thr7=) single nucleotide variant Growth hormone deficiency [RCV001123984] Chr17:63918496 [GRCh38]
Chr17:61995856 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.291+14T>G single nucleotide variant Growth hormone deficiency [RCV001122913] Chr17:63918003 [GRCh38]
Chr17:61995363 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.-47A>G single nucleotide variant Growth hormone deficiency [RCV001126657] Chr17:63918823 [GRCh38]
Chr17:61996183 [GRCh37]
Chr17:17q23.3
likely benign
NM_000515.5(GH1):c.164A>G (p.Gln55Arg) single nucleotide variant Growth hormone deficiency [RCV001122916] Chr17:63918353 [GRCh38]
Chr17:61995713 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.124C>T (p.Arg42Cys) single nucleotide variant Growth hormone deficiency [RCV001123980] Chr17:63918393 [GRCh38]
Chr17:61995753 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.178G>A (p.Ala60Thr) single nucleotide variant not provided [RCV001311494] Chr17:63918130 [GRCh38]
Chr17:61995490 [GRCh37]
Chr17:17q23.3
likely pathogenic
NM_000515.5(GH1):c.502A>T (p.Thr168Ser) single nucleotide variant Ateleiotic dwarfism [RCV001262183] Chr17:63917461 [GRCh38]
Chr17:61994821 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.484G>A (p.Gly162Arg) single nucleotide variant Ateleiotic dwarfism [RCV001335368] Chr17:63917479 [GRCh38]
Chr17:61994839 [GRCh37]
Chr17:17q23.3
pathogenic
NM_000515.5(GH1):c.131A>C (p.His44Pro) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV001293731] Chr17:63918386 [GRCh38]
Chr17:61995746 [GRCh37]
Chr17:17q23.3
likely pathogenic
NM_000515.5(GH1):c.302T>C (p.Leu101Pro) single nucleotide variant Autosomal dominant isolated somatotropin deficiency [RCV001332507] Chr17:63917914 [GRCh38]
Chr17:61995274 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.188_195delinsTGAAGGAG (p.Pro63Leu) indel Ateleiotic dwarfism [RCV001335367] Chr17:63918113..63918120 [GRCh38]
Chr17:61995473..61995480 [GRCh37]
Chr17:17q23.3
uncertain significance
NM_000515.5(GH1):c.588G>A (p.Met196Ile) single nucleotide variant Ateleiotic dwarfism [RCV001332508] Chr17:63917375 [GRCh38]
Chr17:61994735 [GRCh37]
Chr17:17q23.3
uncertain significance
NC_000017.10:g.(?_61994669)_(61996136_?)del deletion not provided [RCV001385453] Chr17:61994669..61996136 [GRCh37]
Chr17:17q23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4261 AgrOrtholog
COSMIC GH1 COSMIC
Ensembl Genes ENSG00000259384 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312673 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000339278 UniProtKB/TrEMBL
  ENSP00000343791 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000408486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481276 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000342364 UniProtKB/TrEMBL
  ENST00000351388 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000458650 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617086 UniProtKB/TrEMBL
GTEx ENSG00000259384 GTEx
HGNC ID HGNC:4261 ENTREZGENE
Human Proteome Map GH1 Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatotropin/Prolactin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Somatotropin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2688 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2688 ENTREZGENE
OMIM 139250 OMIM
  173100 OMIM
  262400 OMIM
  262650 OMIM
  612781 OMIM
PANTHER PTHR11417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA171 PharmGKB
PRINTS SOMATOTROPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SOMATOTROPIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOMATOTROPIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1A4G6 ENTREZGENE, UniProtKB/TrEMBL
  B1A4G7 ENTREZGENE, UniProtKB/TrEMBL
  B1A4G9_HUMAN UniProtKB/TrEMBL
  B1A4H0_HUMAN UniProtKB/TrEMBL
  P01241 ENTREZGENE
  Q6IYF0_HUMAN UniProtKB/TrEMBL
  Q6IYF1_HUMAN UniProtKB/TrEMBL
  SOMA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NEF6 UniProtKB/Swiss-Prot
  A6NP12 UniProtKB/TrEMBL
  Q14405 UniProtKB/Swiss-Prot
  Q16631 UniProtKB/Swiss-Prot
  Q5EB53 UniProtKB/Swiss-Prot
  Q9HBZ1 UniProtKB/Swiss-Prot
  Q9UMJ7 UniProtKB/Swiss-Prot
  Q9UNL5 UniProtKB/Swiss-Prot