SHBG (sex hormone binding globulin) - Rat Genome Database

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Gene: SHBG (sex hormone binding globulin) Homo sapiens
Analyze
Symbol: SHBG
Name: sex hormone binding globulin
RGD ID: 736172
HGNC Page HGNC:10839
Description: Predicted to enable steroid binding activity. Located in extracellular exosome. Implicated in endometrial cancer and type 2 diabetes mellitus. Biomarker of diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABP; androgen binding protein; MGC126834; MGC138391; SBP; sex hormone-binding globulin; sex steroid-binding protein; TEBG; testis-specific androgen-binding protein; testosterone-binding beta-globulin; testosterone-estradiol-binding globulin; testosterone-estrogen-binding globulin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,614,064 - 7,633,372 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,613,946 - 7,633,382 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,517,382 - 7,536,690 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,474,216 - 7,477,395 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,474,215 - 7,477,395NCBI
Celera177,543,810 - 7,563,117 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,411,426 - 7,430,707 (+)NCBIHuRef
CHM1_1177,526,291 - 7,545,881 (+)NCBICHM1_1
T2T-CHM13v2.0177,518,285 - 7,537,563 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-naringenin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP,ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2'-Dihydroxy-4-methoxybenzophenone  (EXP)
2,3,4,5-Tetrachloro-4'-biphenylol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-diaminotoluene  (ISO)
2,4-Dihydroxybenzophenone  (EXP)
2-hydroxy-17beta-estradiol  (EXP)
2-sec-butylphenol  (EXP)
3'-hydroxyflavanone  (EXP)
3-Deoxyestrone  (EXP)
4'-hydroxychalcone  (EXP)
4'-hydroxyflavanone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxy-17beta-estradiol  (EXP)
4-hydroxychalcone  (EXP)
4-nonylphenol  (EXP)
4-octylphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
7-hydroxyflavanone  (EXP)
acetamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
alcohol  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (EXP)
ammonium chloride  (ISO)
apigenin  (EXP)
aristolochic acid A  (EXP)
atrazine  (ISO)
Aurin  (EXP)
benzo[a]pyrene  (EXP)
Benzyl parahydroxybenzoate  (EXP)
beta-Zearalanol  (EXP)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
Butylbenzyl phthalate  (EXP)
Butylparaben  (EXP)
cadmium atom  (ISO)
carbamazepine  (EXP)
cerulenin  (EXP)
chalcone  (EXP)
chromium(6+)  (EXP,ISO)
chrysin  (EXP)
clomiphene  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
corticosterone  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
cypermethrin  (EXP,ISO)
D-glucose  (EXP)
DDE  (EXP,ISO)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
delta-hexachlorocyclohexane  (EXP,ISO)
Di-n-octyl phthalate  (EXP)
dibutyl phthalate  (EXP)
dieldrin  (ISO)
dienestrol  (EXP)
diethyl phthalate  (EXP)
diethylstilbestrol  (EXP)
Dimethylstilbestrol  (EXP)
Droloxifene  (EXP)
drospirenone  (EXP)
elcometrine  (EXP)
equol  (EXP)
estra-1,3,5(10)-trien-3-ol  (EXP)
estriol  (EXP)
estrone  (EXP)
ethylparaben  (EXP)
fenvalerate  (EXP)
flavanone  (EXP)
fructose  (EXP)
gamma-hexachlorocyclohexane  (EXP,ISO)
genistein  (EXP)
gestodene  (EXP)
glucose  (EXP)
glyphosate  (ISO)
hesperetin  (EXP)
letrozole  (ISO)
levonorgestrel  (EXP)
Licochalcone B  (EXP)
linuron  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
masoprocol  (EXP)
methoxyacetic acid  (ISO)
methoxychlor  (ISO)
methylparaben  (EXP)
Mitotane  (EXP)
mono(2-ethyl-5-hydroxyhexyl) phthalate  (EXP)
mono(2-ethyl-5-oxohexyl) phthalate  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (EXP)
Monobutylphthalate  (EXP)
Moxestrol  (EXP)
Nonylphenol  (EXP,ISO)
Norethynodrel  (EXP)
norgestimate  (EXP)
olanzapine  (EXP)
oxandrolone  (EXP)
oxcarbazepine  (EXP)
palmitoyl-CoA  (EXP)
paracetamol  (ISO)
pentachlorophenol  (EXP,ISO)
perfluorononanoic acid  (ISO)
phenolphthalein  (EXP)
phloretin  (EXP)
progesterone  (EXP)
propylparaben  (EXP)
quercetin  (EXP,ISO)
quinoxyfen  (EXP)
raloxifene  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
spironolactone  (ISO)
stilbene-4,4'-diol  (EXP)
sulfur dioxide  (ISO)
tamoxifen  (EXP)
testosterone  (EXP)
tetramethrin  (EXP)
thioacetamide  (ISO)
toremifene  (EXP)
trans-chalcone  (EXP)
trans-stilbene-4,4'-diol  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclocarban  (EXP)
Triphenylethylene  (EXP)
triptonide  (ISO)
wortmannin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Lower sex hormone-binding globulin is more strongly associated with metabolic syndrome than lower total testosterone in older men: the Health in Men Study. Chubb SA, etal., Eur J Endocrinol. 2008 Jun;158(6):785-92.
2. Sex hormone-binding globulin and testosterone in individuals with childhood diabetes. Danielson KK, etal., Diabetes Care. 2008 Jun;31(6):1207-13. Epub 2008 Mar 17.
3. Sex hormone-binding globulin and risk of type 2 diabetes in women and men. Ding EL, etal., N Engl J Med. 2009 Sep 17;361(12):1152-63. Epub 2009 Aug 5.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene. Kataoka N, etal., Cancer. 2007 Apr 1;109(7):1296-302.
6. Suppression of SOCS3 expression in the pancreatic beta-cell leads to resistance to type 1 diabetes. Mori H, etal., Biochem Biophys Res Commun. 2007 Aug 10;359(4):952-8. Epub 2007 Jun 4.
7. Serum sex hormone-binding globulin, a determinant of cardiometabolic disorders independent of abdominal obesity and insulin resistance in elderly men and women. Onat A, etal., Metabolism. 2007 Oct;56(10):1356-62.
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1400872   PMID:2249477   PMID:2587256   PMID:2608061   PMID:2956125   PMID:2956126   PMID:3542030   PMID:3569533   PMID:3702459   PMID:7714097   PMID:8964583   PMID:10391209  
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PMID:12477932   PMID:12603009   PMID:12679434   PMID:12753385   PMID:12800098   PMID:12861158   PMID:14568572   PMID:14671199   PMID:14694008   PMID:14718574   PMID:14764814   PMID:15028279  
PMID:15111517   PMID:15146368   PMID:15193539   PMID:15199113   PMID:15292305   PMID:15489334   PMID:15574421   PMID:15634719   PMID:15664449   PMID:15668497   PMID:15755867   PMID:15784702  
PMID:15862967   PMID:15879463   PMID:15894658   PMID:16143106   PMID:16155373   PMID:16251630   PMID:16331562   PMID:16335952   PMID:16394089   PMID:16757555   PMID:16896040   PMID:16926255  
PMID:16949385   PMID:16982738   PMID:17027360   PMID:17027364   PMID:17077994   PMID:17176215   PMID:17189294   PMID:17220347   PMID:17258903   PMID:17411440   PMID:17507624   PMID:17684316  
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PMID:18464913   PMID:18477206   PMID:18505907   PMID:18624398   PMID:18636124   PMID:18676680   PMID:18681858   PMID:18767927   PMID:18937076   PMID:18949680   PMID:18980759   PMID:19005973  
PMID:19015200   PMID:19022535   PMID:19064566   PMID:19064572   PMID:19086053   PMID:19091090   PMID:19124506   PMID:19168589   PMID:19170196   PMID:19179433   PMID:19194113   PMID:19196890  
PMID:19327605   PMID:19336534   PMID:19416531   PMID:19429700   PMID:19453261   PMID:19534810   PMID:19557594   PMID:19574343   PMID:19598235   PMID:19625176   PMID:19649728   PMID:19672706  
PMID:19679209   PMID:19692168   PMID:19724880   PMID:19733622   PMID:19765778   PMID:19770023   PMID:19929279   PMID:19933169   PMID:19945451   PMID:20105436   PMID:20133463   PMID:20173016  
PMID:20200332   PMID:20346360   PMID:20354921   PMID:20368409   PMID:20432167   PMID:20540673   PMID:20634197   PMID:20690069   PMID:20691435   PMID:20716560   PMID:20734064   PMID:20829367  
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PMID:23689731   PMID:23709655   PMID:23765753   PMID:23772775   PMID:23788303   PMID:23800538   PMID:23801371   PMID:23812344   PMID:24000139   PMID:24049095   PMID:24121382   PMID:24203061  
PMID:24327369   PMID:24386165   PMID:24408050   PMID:24563232   PMID:24671943   PMID:24768129   PMID:24828613   PMID:24848868   PMID:24892637   PMID:24926948   PMID:24937543   PMID:25020276  
PMID:25040369   PMID:25240469   PMID:25308967   PMID:25494869   PMID:25530260   PMID:25647406   PMID:26119029   PMID:26181566   PMID:26291814   PMID:26391196   PMID:26438522   PMID:26441241  
PMID:26476541   PMID:26483395   PMID:26600064   PMID:26657339   PMID:26680482   PMID:26700933   PMID:26778261   PMID:26930261   PMID:26963243   PMID:27019440   PMID:27031578   PMID:27117450  
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PMID:28223343   PMID:28246273   PMID:28282659   PMID:28324031   PMID:28359088   PMID:28373106   PMID:28456148   PMID:28489766   PMID:28514442   PMID:28540984   PMID:28577342   PMID:28664630  
PMID:28796060   PMID:28796064   PMID:28992603   PMID:29148252   PMID:29235134   PMID:29245159   PMID:29298529   PMID:29329467   PMID:29474646   PMID:29484425   PMID:29776756   PMID:29804699  
PMID:29940241   PMID:29995902   PMID:30006962   PMID:30030052   PMID:30046278   PMID:30496542   PMID:30520140   PMID:30626909   PMID:31036465   PMID:31111369   PMID:31293072   PMID:31340742  
PMID:31525346   PMID:31852737   PMID:32078494   PMID:32423484   PMID:32589470   PMID:32795655   PMID:32900481   PMID:33168491   PMID:33318152   PMID:33326704   PMID:33595913   PMID:33664334  
PMID:33715205   PMID:33715769   PMID:33721297   PMID:33766833   PMID:33808055   PMID:33854482   PMID:33864017   PMID:33879453   PMID:33961781   PMID:34078812   PMID:34289735   PMID:34330167  
PMID:34363033   PMID:34433519   PMID:34642402   PMID:34680117   PMID:34855305   PMID:35132570   PMID:35277784   PMID:35559673   PMID:35986631   PMID:36000831   PMID:36484476   PMID:36693423  
PMID:36702572   PMID:36716780   PMID:37083525   PMID:37221937   PMID:37392803   PMID:37436403   PMID:37468926   PMID:37605959   PMID:37615194   PMID:37644603   PMID:37725912   PMID:37735050  
PMID:37742091   PMID:37900132   PMID:37913814   PMID:38051322   PMID:38116310   PMID:38152135   PMID:38320264   PMID:38394359   PMID:38396861   PMID:38796576   PMID:38848344   PMID:39238192  


Genomics

Comparative Map Data
SHBG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,614,064 - 7,633,372 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,613,946 - 7,633,382 (+)EnsemblGRCh38hg38GRCh38
GRCh37177,517,382 - 7,536,690 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,474,216 - 7,477,395 (+)NCBINCBI36Build 36hg18NCBI36
Build 34177,474,215 - 7,477,395NCBI
Celera177,543,810 - 7,563,117 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef177,411,426 - 7,430,707 (+)NCBIHuRef
CHM1_1177,526,291 - 7,545,881 (+)NCBICHM1_1
T2T-CHM13v2.0177,518,285 - 7,537,563 (+)NCBIT2T-CHM13v2.0
Shbg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,501,108 - 69,508,852 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,505,630 - 69,508,731 (-)EnsemblGRCm39 Ensembl
GRCm381169,610,282 - 69,618,026 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,614,804 - 69,617,905 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,428,318 - 69,431,407 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361170,198,988 - 70,201,975 (-)NCBIMGSCv36mm8
MGSCv361169,431,011 - 69,434,063 (-)NCBIMGSCv36mm8
Cytogenetic Map11B3NCBI
cM Map1142.86NCBI
Shbg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81054,831,716 - 54,849,162 (-)NCBIGRCr8
mRatBN7.21054,332,939 - 54,350,409 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,332,941 - 54,351,057 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1058,995,368 - 58,998,537 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01058,483,914 - 58,487,083 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01053,991,608 - 53,994,780 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,219,861 - 56,237,354 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,219,858 - 56,223,245 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01055,965,499 - 55,983,036 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,432,474 - 56,435,654 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11056,446,096 - 56,449,277 (-)NCBI
Celera1053,487,385 - 53,490,565 (-)NCBICelera
Cytogenetic Map10q24NCBI
Shbg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554679,301,173 - 9,305,010 (-)NCBIChiLan1.0ChiLan1.0
SHBG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21915,221,821 - 15,235,544 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11717,187,912 - 17,193,499 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,658,831 - 7,664,631 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,645,188 - 7,650,552 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,645,187 - 7,650,552 (+)Ensemblpanpan1.1panPan2
SHBG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,535,738 - 32,540,627 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,537,138 - 32,540,624 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,674,555 - 32,679,801 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,640,395 - 32,645,639 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,642,122 - 32,645,637 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,608,086 - 32,613,336 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,564,351 - 32,569,590 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,743,466 - 32,748,710 (+)NCBIUU_Cfam_GSD_1.0
Shbg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560247,419,255 - 47,423,061 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595894,040 - 897,733 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595894,048 - 897,249 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHBG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11252,914,711 - 52,919,092 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21255,255,233 - 55,259,078 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SHBG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,002,380 - 7,012,170 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl167,008,682 - 7,012,764 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605914,395,808 - 14,399,825 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shbg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478610,234,484 - 10,239,034 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHBG
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:7544902-7670581)x3 copy number gain See cases [RCV000139519] Chr17:7544902..7670581 [GRCh38]
Chr17:7448219..7573899 [GRCh37]
Chr17:7388943..7514624 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
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
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1		 drug response
GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1 copy number loss Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626434] Chr17:7603519..7768486 [GRCh38]
Chr17:7506837..7671804 [GRCh37]
Chr17:17p13.1		 drug response
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
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 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
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
NM_001040.5(SHBG):c.657A>G (p.Val219=) single nucleotide variant not provided [RCV000924929] Chr17:7631690 [GRCh38]
Chr17:7535008 [GRCh37]
Chr17:17p13.1		 likely benign
NM_001040.5(SHBG):c.74G>A (p.Arg25His) single nucleotide variant not provided [RCV000881975] Chr17:7630246 [GRCh38]
Chr17:7533564 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1 copy number loss not provided [RCV001006867] Chr17:7381536..7535411 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.1126G>A (p.Asp376Asn) single nucleotide variant Sex Hormone-Binding Globulin Deficiency [RCV001175127] Chr17:7633269 [GRCh38]
Chr17:7536587 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7123304)_(7606804_?)del deletion Common variable immunodeficiency [RCV003107751] Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.10G>A (p.Val4Met) single nucleotide variant not specified [RCV004311487] Chr17:7627626 [GRCh38]
Chr17:7530944 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.65G>A (p.Arg22His) single nucleotide variant not provided [RCV000896150] Chr17:7630237 [GRCh38]
Chr17:7533555 [GRCh37]
Chr17:17p13.1		 likely benign
NM_001040.5(SHBG):c.535G>C (p.Ala179Pro) single nucleotide variant not provided [RCV000888844] Chr17:7631341 [GRCh38]
Chr17:7534659 [GRCh37]
Chr17:17p13.1		 benign
NM_001040.5(SHBG):c.942G>A (p.Arg314=) single nucleotide variant not provided [RCV000888845] Chr17:7632841 [GRCh38]
Chr17:7536159 [GRCh37]
Chr17:17p13.1		 benign
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.120C>T (p.His40=) single nucleotide variant not provided [RCV000957427] Chr17:7630424 [GRCh38]
Chr17:7533742 [GRCh37]
Chr17:17p13.1		 benign
NM_001040.5(SHBG):c.1066G>A (p.Asp356Asn) single nucleotide variant SHBG-related disorder [RCV003966240]|not provided [RCV001598080] Chr17:7633209 [GRCh38]
Chr17:7536527 [GRCh37]
Chr17:17p13.1		 benign
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7241916-8692213) copy number loss not specified [RCV002052586] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7020054-8086290) copy number loss not specified [RCV002052585] Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3 copy number gain not provided [RCV001834463] Chr17:7453504..7734096 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_7120455)_(8151423_?)del deletion Li-Fraumeni syndrome [RCV003111420] Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_7123304)_(8193254_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3 copy number gain not provided [RCV002474996] Chr17:7381537..8068400 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.411G>A (p.Met137Ile) single nucleotide variant not specified [RCV004149363] Chr17:7626549 [GRCh38]
Chr17:7529867 [GRCh37]
Chr17:17p13.1		 likely benign
NM_133491.5(SAT2):c.26C>A (p.Ala9Asp) single nucleotide variant not specified [RCV004239112] Chr17:7627610 [GRCh38]
Chr17:7530928 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.841C>A (p.Leu281Ile) single nucleotide variant not specified [RCV004139970] Chr17:7632004 [GRCh38]
Chr17:7535322 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.1016T>C (p.Leu339Pro) single nucleotide variant not specified [RCV004111564] Chr17:7632915 [GRCh38]
Chr17:7536233 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_004860.4(FXR2):c.10C>G (p.Leu4Val) single nucleotide variant not specified [RCV004086189] Chr17:7614523 [GRCh38]
Chr17:7517841 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.472T>G (p.Cys158Gly) single nucleotide variant not specified [RCV004230303] Chr17:7626488 [GRCh38]
Chr17:7529806 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.125C>T (p.Pro42Leu) single nucleotide variant not specified [RCV004145530] Chr17:7630429 [GRCh38]
Chr17:7533747 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.313C>A (p.Pro105Thr) single nucleotide variant not specified [RCV004186567] Chr17:7630789 [GRCh38]
Chr17:7534107 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.584G>T (p.Arg195Leu) single nucleotide variant not specified [RCV004117804] Chr17:7631617 [GRCh38]
Chr17:7534935 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.473G>C (p.Gly158Ala) single nucleotide variant not specified [RCV004133948] Chr17:7631279 [GRCh38]
Chr17:7534597 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.115G>A (p.Ala39Thr) single nucleotide variant not specified [RCV004083269] Chr17:7630419 [GRCh38]
Chr17:7533737 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.277G>T (p.Asp93Tyr) single nucleotide variant not specified [RCV004180613] Chr17:7630753 [GRCh38]
Chr17:7534071 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.334A>C (p.Lys112Gln) single nucleotide variant not specified [RCV004137516] Chr17:7626764 [GRCh38]
Chr17:7530082 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.809C>T (p.Thr270Ile) single nucleotide variant not specified [RCV004072725] Chr17:7631972 [GRCh38]
Chr17:7535290 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.1037G>A (p.Arg346His) single nucleotide variant not specified [RCV004183328] Chr17:7632936 [GRCh38]
Chr17:7536254 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.62T>G (p.Ile21Ser) single nucleotide variant not specified [RCV004241349] Chr17:7627574 [GRCh38]
Chr17:7530892 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.484A>G (p.Ser162Gly) single nucleotide variant not specified [RCV004146394] Chr17:7631290 [GRCh38]
Chr17:7534608 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.147T>A (p.Asn49Lys) single nucleotide variant not specified [RCV004110744] Chr17:7627198 [GRCh38]
Chr17:7530516 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 copy number loss not provided [RCV003222936] Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_004860.4(FXR2):c.14C>T (p.Ala5Val) single nucleotide variant not specified [RCV004287429] Chr17:7614519 [GRCh38]
Chr17:7517837 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.974C>A (p.Ala325Asp) single nucleotide variant not specified [RCV004263414] Chr17:7632873 [GRCh38]
Chr17:7536191 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_001040.5(SHBG):c.212C>G (p.Ser71Cys) single nucleotide variant not specified [RCV004351045] Chr17:7630688 [GRCh38]
Chr17:7534006 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.1093G>A (p.Gly365Ser) single nucleotide variant not specified [RCV004357953] Chr17:7633236 [GRCh38]
Chr17:7536554 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.439G>T (p.Gly147Trp) single nucleotide variant not specified [RCV004350860] Chr17:7631245 [GRCh38]
Chr17:7534563 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.350C>T (p.Thr117Met) single nucleotide variant not specified [RCV004347444] Chr17:7630826 [GRCh38]
Chr17:7534144 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.867T>C (p.Ser289=) single nucleotide variant not provided [RCV003419614] Chr17:7632766 [GRCh38]
Chr17:7536084 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_001040.5(SHBG):c.833G>A (p.Ser278Asn) single nucleotide variant SHBG-related disorder [RCV003942168] Chr17:7631996 [GRCh38]
Chr17:7535314 [GRCh37]
Chr17:17p13.1		 likely benign
NM_001040.5(SHBG):c.394-10C>G single nucleotide variant SHBG-related disorder [RCV003943954] Chr17:7631190 [GRCh38]
Chr17:7534508 [GRCh37]
Chr17:17p13.1		 likely benign
NM_001040.5(SHBG):c.459G>C (p.Leu153=) single nucleotide variant SHBG-related disorder [RCV003934308] Chr17:7631265 [GRCh38]
Chr17:7534583 [GRCh37]
Chr17:17p13.1		 likely benign
NM_133491.5(SAT2):c.13C>T (p.Arg5Trp) single nucleotide variant not specified [RCV004450242] Chr17:7627623 [GRCh38]
Chr17:7530941 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.25G>A (p.Ala9Thr) single nucleotide variant not specified [RCV004450243] Chr17:7627611 [GRCh38]
Chr17:7530929 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.302G>C (p.Arg101Pro) single nucleotide variant not specified [RCV004450244] Chr17:7626945 [GRCh38]
Chr17:7530263 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.65G>T (p.Arg22Leu) single nucleotide variant not specified [RCV004450245] Chr17:7627571 [GRCh38]
Chr17:7530889 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.409G>A (p.Glu137Lys) single nucleotide variant not specified [RCV004450925] Chr17:7631215 [GRCh38]
Chr17:7534533 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.1193C>A (p.Thr398Asn) single nucleotide variant not specified [RCV004450924] Chr17:7633336 [GRCh38]
Chr17:7536654 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_133491.5(SAT2):c.310G>A (p.Gly104Arg) single nucleotide variant not specified [RCV004658506] Chr17:7626788 [GRCh38]
Chr17:7530106 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.596G>C (p.Trp199Ser) single nucleotide variant not specified [RCV004667322] Chr17:7631629 [GRCh38]
Chr17:7534947 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
NM_004860.4(FXR2):c.23G>C (p.Gly8Ala) single nucleotide variant not specified [RCV004618896] Chr17:7614510 [GRCh38]
Chr17:7517828 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.518G>A (p.Gly173Glu) single nucleotide variant not specified [RCV004667324] Chr17:7631324 [GRCh38]
Chr17:7534642 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.290T>C (p.Met97Thr) single nucleotide variant not specified [RCV004667321] Chr17:7630766 [GRCh38]
Chr17:7534084 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_001040.5(SHBG):c.962C>G (p.Ser321Trp) single nucleotide variant not specified [RCV004667323] Chr17:7632861 [GRCh38]
Chr17:7536179 [GRCh37]
Chr17:17p13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4672
Count of miRNA genes:806
Interacting mature miRNAs:960
Transcripts:ENST00000340624, ENST00000380450, ENST00000416273, ENST00000441599, ENST00000570353, ENST00000570527, ENST00000570547, ENST00000571153, ENST00000572182, ENST00000572262, ENST00000574539, ENST00000575314, ENST00000575618, ENST00000575729, ENST00000575903, ENST00000576152, ENST00000576478, ENST00000576728, ENST00000576747, ENST00000576830
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407110720GWAS759696_Hwaist-hip ratio QTL GWAS759696 (human)5e-18waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1776286477628648Human
406925127GWAS574103_Hblood protein measurement QTL GWAS574103 (human)4e-16blood protein measurementblood protein measurement (CMO:0000028)1776286477628648Human
407116877GWAS765853_Hsexual dimorphism measurement QTL GWAS765853 (human)6e-10sexual dimorphism measurement1776246287624629Human
406938696GWAS587672_Hblood protein measurement QTL GWAS587672 (human)1e-111blood protein measurementblood protein measurement (CMO:0000028)1776286477628648Human
406989643GWAS638619_Hblood protein measurement QTL GWAS638619 (human)6e-11blood protein measurementblood protein measurement (CMO:0000028)1776286477628648Human
407280207GWAS929183_Hbody height QTL GWAS929183 (human)2e-92body height (VT:0001253)body height (CMO:0000106)1776305837630584Human
407066190GWAS715166_Htestosterone measurement QTL GWAS715166 (human)3e-38testosterone measurementserum testosterone level (CMO:0000568)1776313607631361Human
406959951GWAS608927_Hpulse pressure measurement QTL GWAS608927 (human)0.0000002pulse pressure measurementpulse pressure (CMO:0000292)1776246287624629Human
407389784GWAS1038760_Hobsolete_red blood cell distribution width QTL GWAS1038760 (human)7e-09obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1776297077629708Human
407063379GWAS712355_HN6-acetyllysine measurement QTL GWAS712355 (human)2e-22N6-acetyllysine measurement1776305837630584Human
407280209GWAS929185_Hbody height QTL GWAS929185 (human)4e-43body height (VT:0001253)body height (CMO:0000106)1776313607631361Human
406959199GWAS608175_Hpositive regulation of ovulation QTL GWAS608175 (human)0.000009positive regulation of ovulation1776301057630106Human
407052131GWAS701107_Htestosterone measurement QTL GWAS701107 (human)1e-41testosterone measurementserum testosterone level (CMO:0000568)1776185977618598Human
407028321GWAS677297_Htestosterone measurement QTL GWAS677297 (human)3e-13testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
407052132GWAS701108_Htestosterone measurement QTL GWAS701108 (human)2e-22testosterone measurementserum testosterone level (CMO:0000568)1776313607631361Human
407325040GWAS974016_Hsex hormone-binding globulin measurement QTL GWAS974016 (human)3e-511sex hormone-binding globulin measurement1776331427633143Human
406987134GWAS636110_Hsex hormone-binding globulin measurement QTL GWAS636110 (human)4e-1795sex hormone-binding globulin measurement1776301057630106Human
406987135GWAS636111_Hsex hormone-binding globulin measurement QTL GWAS636111 (human)5e-1586sex hormone-binding globulin measurement1776313607631361Human
407200005GWAS848981_HN6-acetyllysine measurement QTL GWAS848981 (human)2e-46N6-acetyllysine measurement1776265847626585Human
406991873GWAS640849_Htestosterone measurement QTL GWAS640849 (human)8e-23testosterone measurementserum testosterone level (CMO:0000568)1776301057630106Human
407200001GWAS848977_Hmetabolite measurement QTL GWAS848977 (human)7e-33metabolite measurement1776265847626585Human
407246095GWAS895071_Htestosterone measurement QTL GWAS895071 (human)0.0000002testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
407242253GWAS891229_HN6-acetyllysine measurement QTL GWAS891229 (human)1e-11N6-acetyllysine measurement1776269537626954Human
407242250GWAS891226_HN6-acetyllysine measurement QTL GWAS891226 (human)6e-80N6-acetyllysine measurement1776265847626585Human
407003919GWAS652895_Hsex hormone-binding globulin measurement QTL GWAS652895 (human)3e-2579sex hormone-binding globulin measurement1776286477628648Human
407127051GWAS776027_Hbone fracture QTL GWAS776027 (human)0.0000005bone fracture1776296977629698Human
407257620GWAS906596_Htotal cholesterol measurement QTL GWAS906596 (human)8e-14total cholesterol measurementblood total cholesterol level (CMO:0000051)1776331427633143Human
407013914GWAS662890_Htestosterone measurement QTL GWAS662890 (human)6e-347testosterone measurementserum testosterone level (CMO:0000568)1776313607631361Human
407084570GWAS733546_HN6-acetyllysine measurement QTL GWAS733546 (human)2e-15N6-acetyllysine measurement1776268297626830Human
406945560GWAS594536_Hheel bone mineral density QTL GWAS594536 (human)3e-20heel bone mineral densitybone mineral density (CMO:0001226)1776313607631361Human
407084569GWAS733545_HN6-acetyllysine measurement QTL GWAS733545 (human)4e-107N6-acetyllysine measurement1776265847626585Human
407013913GWAS662889_Htestosterone measurement QTL GWAS662889 (human)9e-742testosterone measurementserum testosterone level (CMO:0000568)1776301057630106Human
407320348GWAS969324_HHbA1c measurement QTL GWAS969324 (human)7e-13HbA1c measurementblood hemoglobin A1c level (CMO:0002786)1776331427633143Human
406995996GWAS644972_Htestosterone measurement QTL GWAS644972 (human)5e-169testosterone measurementserum testosterone level (CMO:0000568)1776301057630106Human
407252266GWAS901242_Htype 2 diabetes mellitus QTL GWAS901242 (human)1e-09type 2 diabetes mellitus1776286477628648Human
407121460GWAS770436_Hsex hormone-binding globulin measurement QTL GWAS770436 (human)6e-30sex hormone-binding globulin measurement1776185977618598Human
407242548GWAS891524_Htestosterone measurement QTL GWAS891524 (human)4e-12testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
407121463GWAS770439_Hsex hormone-binding globulin measurement QTL GWAS770439 (human)2e-106sex hormone-binding globulin measurement1776185977618598Human
407121459GWAS770435_Hsex hormone-binding globulin measurement QTL GWAS770435 (human)4e-80sex hormone-binding globulin measurement1776185977618598Human
407121724GWAS770700_Hsex hormone-binding globulin measurement QTL GWAS770700 (human)2e-55sex hormone-binding globulin measurement1776185977618598Human
407121725GWAS770701_Hsex hormone-binding globulin measurement QTL GWAS770701 (human)3e-46sex hormone-binding globulin measurement1776313607631361Human
407000126GWAS649102_Hsex hormone-binding globulin measurement QTL GWAS649102 (human)2e-3229sex hormone-binding globulin measurement1776286477628648Human
407245766GWAS894742_Hbody fat percentage QTL GWAS894742 (human)1e-29body fat percentagebody fat percentage (CMO:0000302)1776304247630425Human
407245763GWAS894739_Hbody fat percentage QTL GWAS894739 (human)9e-20body fat percentagebody fat percentage (CMO:0000302)1776301437630144Human
407027402GWAS676378_Htestosterone measurement QTL GWAS676378 (human)1e-758testosterone measurementserum testosterone level (CMO:0000568)1776301057630106Human
407245768GWAS894744_Hbody fat percentage QTL GWAS894744 (human)2e-08body fat percentagebody fat percentage (CMO:0000302)1776285167628517Human
407220426GWAS869402_HN6-acetyllysine measurement QTL GWAS869402 (human)9e-176N6-acetyllysine measurement1776265847626585Human
406953681GWAS602657_Hsex hormone-binding globulin measurement QTL GWAS602657 (human)8e-14sex hormone-binding globulin measurement1776246287624629Human
407242452GWAS891428_Htestosterone measurement QTL GWAS891428 (human)0.0000006testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
407311828GWAS960804_Htestosterone measurement QTL GWAS960804 (human)3e-289testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
406953682GWAS602658_Hsex hormone-binding globulin measurement QTL GWAS602658 (human)4e-48sex hormone-binding globulin measurement1776301057630106Human
407311827GWAS960803_Htestosterone measurement QTL GWAS960803 (human)1e-300testosterone measurementserum testosterone level (CMO:0000568)1776301057630106Human
407238373GWAS887349_Htestosterone measurement QTL GWAS887349 (human)2e-12testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
407234031GWAS883007_Hsex hormone-binding globulin measurement QTL GWAS883007 (human)4e-30sex hormone-binding globulin measurement1776301057630106Human
407234030GWAS883006_Hsex hormone-binding globulin measurement QTL GWAS883006 (human)2e-24sex hormone-binding globulin measurement1776286477628648Human
406995695GWAS644671_Htestosterone measurement QTL GWAS644671 (human)7e-286testosterone measurementserum testosterone level (CMO:0000568)1776313607631361Human
407234032GWAS883008_Hsex hormone-binding globulin measurement QTL GWAS883008 (human)6e-26sex hormone-binding globulin measurement1776301057630106Human
407215859GWAS864835_Hserum metabolite measurement QTL GWAS864835 (human)1e-38serum metabolite measurement1776265847626585Human
407156466GWAS805442_Hsex hormone-binding globulin measurement QTL GWAS805442 (human)1e-16sex hormone-binding globulin measurement1776277707627771Human
406993146GWAS642122_Hsex hormone-binding globulin measurement QTL GWAS642122 (human)9e-2048sex hormone-binding globulin measurement1776301057630106Human
406993147GWAS642123_Hsex hormone-binding globulin measurement QTL GWAS642123 (human)1e-1823sex hormone-binding globulin measurement1776313607631361Human
407324413GWAS973389_Htestosterone measurement QTL GWAS973389 (human)3e-70testosterone measurementserum testosterone level (CMO:0000568)1776331427633143Human
407208070GWAS857046_Hestradiol measurement QTL GWAS857046 (human)9e-11estradiol measurementblood estradiol level (CMO:0000513)1776296977629698Human
407037062GWAS686038_Hprotein measurement QTL GWAS686038 (human)4e-11protein measurement1776301437630144Human
407027589GWAS676565_Hsex hormone-binding globulin measurement QTL GWAS676565 (human)2e-1854sex hormone-binding globulin measurement1776301057630106Human
407220620GWAS869596_HN6-acetyllysine measurement QTL GWAS869596 (human)5e-80N6-acetyllysine measurement1776265847626585Human
407250314GWAS899290_Hbody fat percentage QTL GWAS899290 (human)2e-17body fat percentagebody fat percentage (CMO:0000302)1776301437630144Human
406933651GWAS582627_Hheel bone mineral density QTL GWAS582627 (human)1e-14heel bone mineral densitybone mineral density (CMO:0001226)1776313607631361Human
407250325GWAS899301_Hbody fat percentage QTL GWAS899301 (human)1e-224body fat percentagebody fat percentage (CMO:0000302)1776301057630106Human
407311504GWAS960480_Hsex hormone-binding globulin measurement QTL GWAS960480 (human)1e-300sex hormone-binding globulin measurement1776185977618598Human
407113887GWAS762863_Hheel bone mineral density QTL GWAS762863 (human)1e-16heel bone mineral densitybone mineral density (CMO:0001226)1776313607631361Human
407218329GWAS867305_Htype 2 diabetes mellitus QTL GWAS867305 (human)2e-08type 2 diabetes mellitus1776286477628648Human
407021986GWAS670962_Hdiamine acetyltransferase 2 measurement QTL GWAS670962 (human)9e-253diamine acetyltransferase 2 measurement1776265847626585Human
407006627GWAS655603_Htestosterone measurement QTL GWAS655603 (human)2e-424testosterone measurementserum testosterone level (CMO:0000568)1776301057630106Human
407201447GWAS850423_Hheel bone mineral density QTL GWAS850423 (human)4e-21heel bone mineral densitybone mineral density (CMO:0001226)1776313607631361Human
406986660GWAS635636_Hsex hormone-binding globulin measurement QTL GWAS635636 (human)4e-1146sex hormone-binding globulin measurement1776286477628648Human
407006628GWAS655604_Htestosterone measurement QTL GWAS655604 (human)5e-170testosterone measurementserum testosterone level (CMO:0000568)1776313607631361Human
407249839GWAS898815_Hbody fat percentage QTL GWAS898815 (human)3e-22body fat percentagebody fat percentage (CMO:0000302)1776157077615708Human
407021995GWAS670971_Hdiamine acetyltransferase 2 measurement QTL GWAS670971 (human)3e-282diamine acetyltransferase 2 measurement1776235697623570Human
407202223GWAS851199_Hsex hormone-binding globulin measurement QTL GWAS851199 (human)6e-10sex hormone-binding globulin measurement1776307837630784Human
406947761GWAS596737_Hosteoarthritis, hip QTL GWAS596737 (human)8e-09osteoarthritis, hip1776296977629698Human
406920368GWAS569344_HN6-acetyllysine measurement QTL GWAS569344 (human)2e-84N6-acetyllysine measurement1776265847626585Human
407245751GWAS894727_Hbody fat percentage QTL GWAS894727 (human)8e-201body fat percentagebody fat percentage (CMO:0000302)1776286477628648Human
406984880GWAS633856_Hbrain measurement, neuroimaging measurement QTL GWAS633856 (human)3e-09brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)1776332097633210Human
407249842GWAS898818_Hbody fat percentage QTL GWAS898818 (human)1e-17body fat percentagebody fat percentage (CMO:0000302)1776279267627927Human
407202225GWAS851201_Hsex hormone-binding globulin measurement QTL GWAS851201 (human)5e-12sex hormone-binding globulin measurement1776316917631692Human
407013047GWAS662023_Htestosterone measurement QTL GWAS662023 (human)1e-23testosterone measurementserum testosterone level (CMO:0000568)1776296977629698Human
407202224GWAS851200_Hsex hormone-binding globulin measurement QTL GWAS851200 (human)2e-3373sex hormone-binding globulin measurement1776313607631361Human
406996148GWAS645124_Hcomparative body size at age 10, self-reported QTL GWAS645124 (human)4e-09comparative body size at age 10, self-reported1776211867621187Human
407202227GWAS851203_Hsex hormone-binding globulin measurement QTL GWAS851203 (human)1e-40sex hormone-binding globulin measurement1776332697633270Human
407308208GWAS957184_Hlow density lipoprotein cholesterol measurement QTL GWAS957184 (human)4e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)1776331427633143Human
407202226GWAS851202_Hsex hormone-binding globulin measurement QTL GWAS851202 (human)8e-378sex hormone-binding globulin measurement1776332067633207Human
407015354GWAS664330_HCalcium channel blocker use measurement QTL GWAS664330 (human)5e-09Calcium channel blocker use measurement1776222287622229Human
407312319GWAS961295_Hsex hormone-binding globulin measurement QTL GWAS961295 (human)2e-289sex hormone-binding globulin measurement1776286477628648Human
407177916GWAS826892_HN6-acetyllysine measurement QTL GWAS826892 (human)4e-43N6-acetyllysine measurement1776265847626585Human
406988475GWAS637451_Hsex hormone-binding globulin measurement QTL GWAS637451 (human)2e-1533sex hormone-binding globulin measurement1776286477628648Human
407245756GWAS894732_Hbody fat percentage QTL GWAS894732 (human)3e-19body fat percentagebody fat percentage (CMO:0000302)1776279267627927Human
407248829GWAS897805_Hbody fat percentage QTL GWAS897805 (human)1e-08body fat percentagebody fat percentage (CMO:0000302)1776229997623000Human
407245757GWAS894733_Hbody fat percentage QTL GWAS894733 (human)3e-19body fat percentagebody fat percentage (CMO:0000302)1776300497630050Human
407249850GWAS898826_Hbody fat percentage QTL GWAS898826 (human)6e-19body fat percentagebody fat percentage (CMO:0000302)1776297977629798Human
407249851GWAS898827_Hbody fat percentage QTL GWAS898827 (human)1e-14body fat percentagebody fat percentage (CMO:0000302)1776300497630050Human
407245752GWAS894728_Hbody fat percentage QTL GWAS894728 (human)6e-27body fat percentagebody fat percentage (CMO:0000302)1776297977629798Human
407092156GWAS741132_Hblood protein measurement QTL GWAS741132 (human)2e-18blood protein measurementblood protein measurement (CMO:0000028)1776286477628648Human

Markers in Region
SHGC-35513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,536,558 - 7,536,684UniSTSGRCh37
Build 36177,477,283 - 7,477,409RGDNCBI36
Celera177,562,975 - 7,563,101RGD
Cytogenetic Map17p13-p12UniSTS
HuRef177,430,564 - 7,430,690UniSTS
Stanford-G3 RH Map17451.0UniSTS
Whitehead-RH Map1764.1UniSTS
NCBI RH Map17205.1UniSTS
GeneMap99-G3 RH Map17451.0UniSTS
RH66154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,598 - 7,529,739UniSTSGRCh37
Build 36177,470,323 - 7,470,464RGDNCBI36
Celera177,556,014 - 7,556,155RGD
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map17p13-p12UniSTS
HuRef177,423,628 - 7,423,769UniSTS
PMC150924P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,534,457 - 7,534,739UniSTSGRCh37
Build 36177,475,182 - 7,475,464RGDNCBI36
Celera177,560,874 - 7,561,156RGD
Cytogenetic Map17p13-p12UniSTS
HuRef177,428,463 - 7,428,745UniSTS
RH18329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,621 - 7,529,752UniSTSGRCh37
Build 36177,470,346 - 7,470,477RGDNCBI36
Celera177,556,037 - 7,556,168RGD
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map17p13-p12UniSTS
HuRef177,423,651 - 7,423,782UniSTS
GeneMap99-GB4 RH Map1748.53UniSTS
SHGC-166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,529,595 - 7,529,745UniSTSGRCh37
Build 36177,470,320 - 7,470,470RGDNCBI36
Celera177,556,011 - 7,556,161RGD
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map17p13-p12UniSTS
HuRef177,423,625 - 7,423,775UniSTS
TNG Radiation Hybrid Map173956.0UniSTS
GeneMap99-G3 RH Map17451.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1201 2406 2737 2178 4899 1723 2328 4 621 1458 464 2223 6712 5907 48 3707 841 1726 1595 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD013958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU352676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340624   ⟹   ENSP00000345675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,627,969 - 7,633,382 (+)Ensembl
Ensembl Acc Id: ENST00000380450   ⟹   ENSP00000369816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,135 - 7,633,372 (+)Ensembl
Ensembl Acc Id: ENST00000416273   ⟹   ENSP00000388867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,152 - 7,633,372 (+)Ensembl
Ensembl Acc Id: ENST00000441599   ⟹   ENSP00000393426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,094 - 7,633,382 (+)Ensembl
Ensembl Acc Id: ENST00000570353   ⟹   ENSP00000458199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,152 - 7,633,372 (+)Ensembl
Ensembl Acc Id: ENST00000570527   ⟹   ENSP00000461162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,152 - 7,633,372 (+)Ensembl
Ensembl Acc Id: ENST00000570547   ⟹   ENSP00000458875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000571153   ⟹   ENSP00000458858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,254 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000572182   ⟹   ENSP00000458816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000572262   ⟹   ENSP00000459999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000574539   ⟹   ENSP00000458181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000575314   ⟹   ENSP00000458559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000575618   ⟹   ENSP00000459826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,254 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000575729   ⟹   ENSP00000458719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,627,969 - 7,631,260 (+)Ensembl
Ensembl Acc Id: ENST00000575903   ⟹   ENSP00000458973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,152 - 7,633,372 (+)Ensembl
Ensembl Acc Id: ENST00000576152   ⟹   ENSP00000461743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,254 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000576478   ⟹   ENSP00000461133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000576728   ⟹   ENSP00000459620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,614,064 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000576747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,631,309 - 7,632,057 (+)Ensembl
Ensembl Acc Id: ENST00000576830   ⟹   ENSP00000460219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,630,254 - 7,633,354 (+)Ensembl
Ensembl Acc Id: ENST00000624152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,613,946 - 7,614,109 (+)Ensembl
RefSeq Acc Id: NM_001040   ⟹   NP_001031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,630,135 - 7,633,372 (+)NCBI
GRCh37177,517,382 - 7,536,700 (+)ENTREZGENE
Build 36177,474,216 - 7,477,395 (+)NCBI Archive
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,542,593 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,534,326 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146279   ⟹   NP_001139751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,630,135 - 7,633,372 (+)NCBI
GRCh37177,517,382 - 7,536,700 (+)ENTREZGENE
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,542,593 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,534,326 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146280   ⟹   NP_001139752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,630,135 - 7,633,372 (+)NCBI
GRCh37177,517,382 - 7,536,700 (+)ENTREZGENE
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,542,593 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,534,326 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146281   ⟹   NP_001139753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,630,135 - 7,633,372 (+)NCBI
GRCh37177,517,382 - 7,536,700 (+)ENTREZGENE
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,542,593 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,534,326 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289113   ⟹   NP_001276042
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,627,561 - 7,633,372 (+)NCBI
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,540,468 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,531,762 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289114   ⟹   NP_001276043
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,614,064 - 7,633,372 (+)NCBI
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,526,291 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,518,285 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289115   ⟹   NP_001276044
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,627,561 - 7,633,372 (+)NCBI
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,540,468 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,531,762 - 7,537,563 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289116   ⟹   NP_001276045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,630,135 - 7,633,372 (+)NCBI
HuRef177,411,426 - 7,430,708 (+)NCBI
CHM1_1177,542,593 - 7,545,882 (+)NCBI
T2T-CHM13v2.0177,534,326 - 7,537,563 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001031 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139751 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139752 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139753 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276042 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276043 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276044 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276045 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC18778 (Get FASTA)   NCBI Sequence Viewer  
  AAH69597 (Get FASTA)   NCBI Sequence Viewer  
  AAI01786 (Get FASTA)   NCBI Sequence Viewer  
  AAI12187 (Get FASTA)   NCBI Sequence Viewer  
  ABY67997 (Get FASTA)   NCBI Sequence Viewer  
  ABY67998 (Get FASTA)   NCBI Sequence Viewer  
  ABY67999 (Get FASTA)   NCBI Sequence Viewer  
  ABY68000 (Get FASTA)   NCBI Sequence Viewer  
  ABY68001 (Get FASTA)   NCBI Sequence Viewer  
  ABY68002 (Get FASTA)   NCBI Sequence Viewer  
  ABY68003 (Get FASTA)   NCBI Sequence Viewer  
  ABY68004 (Get FASTA)   NCBI Sequence Viewer  
  ABY68005 (Get FASTA)   NCBI Sequence Viewer  
  ABY68006 (Get FASTA)   NCBI Sequence Viewer  
  ABY68007 (Get FASTA)   NCBI Sequence Viewer  
  ABY68008 (Get FASTA)   NCBI Sequence Viewer  
  BAG63852 (Get FASTA)   NCBI Sequence Viewer  
  CAA28987 (Get FASTA)   NCBI Sequence Viewer  
  CAA29234 (Get FASTA)   NCBI Sequence Viewer  
  CAA29309 (Get FASTA)   NCBI Sequence Viewer  
  CAA34398 (Get FASTA)   NCBI Sequence Viewer  
  CAA34399 (Get FASTA)   NCBI Sequence Viewer  
  CAA34400 (Get FASTA)   NCBI Sequence Viewer  
  EAW90149 (Get FASTA)   NCBI Sequence Viewer  
  EAW90150 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345675
  ENSP00000345675.6
  ENSP00000369816
  ENSP00000369816.4
  ENSP00000388867
  ENSP00000388867.3
  ENSP00000393426
  ENSP00000393426.2
  ENSP00000458181
  ENSP00000458181.1
  ENSP00000458199.1
  ENSP00000458559
  ENSP00000458559.1
  ENSP00000458719.1
  ENSP00000458816.1
  ENSP00000458858.1
  ENSP00000458875.1
  ENSP00000458973
  ENSP00000458973.1
  ENSP00000459620.1
  ENSP00000459826.1
  ENSP00000459999.1
  ENSP00000460219.1
  ENSP00000461133.1
  ENSP00000461162.1
  ENSP00000461743.1
GenBank Protein P04278 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001031   ⟸   NM_001040
- Peptide Label: isoform 1 precursor
- UniProtKB: Q3MIL0 (UniProtKB/Swiss-Prot),   Q16616 (UniProtKB/Swiss-Prot),   P14689 (UniProtKB/Swiss-Prot),   I3L1N7 (UniProtKB/Swiss-Prot),   F5H5Z8 (UniProtKB/Swiss-Prot),   E9PGW1 (UniProtKB/Swiss-Prot),   B4DYU0 (UniProtKB/Swiss-Prot),   B0FWH4 (UniProtKB/Swiss-Prot),   Q6ISD2 (UniProtKB/Swiss-Prot),   P04278 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139752   ⟸   NM_001146280
- Peptide Label: isoform 3 precursor
- UniProtKB: P04278 (UniProtKB/Swiss-Prot),   B0FWH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139753   ⟸   NM_001146281
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A0C4DGN2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139751   ⟸   NM_001146279
- Peptide Label: isoform 2 precursor
- UniProtKB: P04278 (UniProtKB/Swiss-Prot),   B0FWH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276043   ⟸   NM_001289114
- Peptide Label: isoform 5
- UniProtKB: I3L145 (UniProtKB/TrEMBL),   I3L2X4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276042   ⟸   NM_001289113
- Peptide Label: isoform 5
- UniProtKB: I3L145 (UniProtKB/TrEMBL),   I3L2X4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276044   ⟸   NM_001289115
- Peptide Label: isoform 6
- UniProtKB: P04278 (UniProtKB/Swiss-Prot),   B4DYU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276045   ⟸   NM_001289116
- Peptide Label: isoform 7
- UniProtKB: P04278 (UniProtKB/Swiss-Prot),   B0FWH2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000458199   ⟸   ENST00000570353
Ensembl Acc Id: ENSP00000461162   ⟸   ENST00000570527
Ensembl Acc Id: ENSP00000458875   ⟸   ENST00000570547
Ensembl Acc Id: ENSP00000458858   ⟸   ENST00000571153
Ensembl Acc Id: ENSP00000458816   ⟸   ENST00000572182
Ensembl Acc Id: ENSP00000459999   ⟸   ENST00000572262
Ensembl Acc Id: ENSP00000388867   ⟸   ENST00000416273
Ensembl Acc Id: ENSP00000393426   ⟸   ENST00000441599
Ensembl Acc Id: ENSP00000458181   ⟸   ENST00000574539
Ensembl Acc Id: ENSP00000459826   ⟸   ENST00000575618
Ensembl Acc Id: ENSP00000458559   ⟸   ENST00000575314
Ensembl Acc Id: ENSP00000458973   ⟸   ENST00000575903
Ensembl Acc Id: ENSP00000458719   ⟸   ENST00000575729
Ensembl Acc Id: ENSP00000461133   ⟸   ENST00000576478
Ensembl Acc Id: ENSP00000461743   ⟸   ENST00000576152
Ensembl Acc Id: ENSP00000460219   ⟸   ENST00000576830
Ensembl Acc Id: ENSP00000459620   ⟸   ENST00000576728
Ensembl Acc Id: ENSP00000345675   ⟸   ENST00000340624
Ensembl Acc Id: ENSP00000369816   ⟸   ENST00000380450
Protein Domains
Laminin G   Laminin G-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04278-F1-model_v2 AlphaFold P04278 1-402 view protein structure

Promoters
RGD ID:6794512
Promoter ID:HG_KWN:24902
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000340624,   ENST00000380466,   NM_133491,   NR_027462,   UC010CMV.1,   UC010CMW.1,   UC010CMX.1,   UC010CMZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,471,616 - 7,472,116 (-)MPROMDB
RGD ID:7233811
Promoter ID:EPDNEW_H22650
Type:initiation region
Name:SHBG_2
Description:sex hormone binding globulin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22653  EPDNEW_H22654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,614,032 - 7,614,092EPDNEW
RGD ID:7233813
Promoter ID:EPDNEW_H22653
Type:initiation region
Name:SHBG_3
Description:sex hormone binding globulin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22650  EPDNEW_H22654  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,627,994 - 7,628,054EPDNEW
RGD ID:7233817
Promoter ID:EPDNEW_H22654
Type:initiation region
Name:SHBG_1
Description:sex hormone binding globulin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22650  EPDNEW_H22653  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,630,135 - 7,630,195EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10839 AgrOrtholog
COSMIC SHBG COSMIC
Ensembl Genes ENSG00000129214 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340624 ENTREZGENE
  ENST00000340624.9 UniProtKB/TrEMBL
  ENST00000380450 ENTREZGENE
  ENST00000380450.9 UniProtKB/Swiss-Prot
  ENST00000416273 ENTREZGENE
  ENST00000416273.7 UniProtKB/Swiss-Prot
  ENST00000441599 ENTREZGENE
  ENST00000441599.6 UniProtKB/Swiss-Prot
  ENST00000570353.5 UniProtKB/TrEMBL
  ENST00000570527.5 UniProtKB/TrEMBL
  ENST00000570547.5 UniProtKB/TrEMBL
  ENST00000571153.5 UniProtKB/TrEMBL
  ENST00000572182.5 UniProtKB/TrEMBL
  ENST00000572262.5 UniProtKB/TrEMBL
  ENST00000574539 ENTREZGENE
  ENST00000574539.5 UniProtKB/Swiss-Prot
  ENST00000575314 ENTREZGENE
  ENST00000575314.5 UniProtKB/TrEMBL
  ENST00000575618.5 UniProtKB/TrEMBL
  ENST00000575729.5 UniProtKB/TrEMBL
  ENST00000575903 ENTREZGENE
  ENST00000575903.5 UniProtKB/Swiss-Prot
  ENST00000576152.1 UniProtKB/TrEMBL
  ENST00000576478.5 UniProtKB/TrEMBL
  ENST00000576728.5 UniProtKB/TrEMBL
  ENST00000576830.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129214 GTEx
HGNC ID HGNC:10839 ENTREZGENE
Human Proteome Map SHBG Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAS-SHBG-PROS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6462 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6462 ENTREZGENE
OMIM 182205 OMIM
PANTHER LAMININ G-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEX HORMONE-BINDING GLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Laminin_G_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35745 PharmGKB
PROSITE LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGN2 ENTREZGENE, UniProtKB/TrEMBL
  B0FWH2 ENTREZGENE, UniProtKB/TrEMBL
  B0FWH4 ENTREZGENE
  B0FWH5_HUMAN UniProtKB/TrEMBL
  B0FWH6_HUMAN UniProtKB/TrEMBL
  B0FWH7_HUMAN UniProtKB/TrEMBL
  B0FWH8_HUMAN UniProtKB/TrEMBL
  B4DYU0 ENTREZGENE
  E9PGW1 ENTREZGENE
  F5H5Z8 ENTREZGENE
  I3L0M1_HUMAN UniProtKB/TrEMBL
  I3L145 ENTREZGENE, UniProtKB/TrEMBL
  I3L1C1_HUMAN UniProtKB/TrEMBL
  I3L1G4_HUMAN UniProtKB/TrEMBL
  I3L1J1_HUMAN UniProtKB/TrEMBL
  I3L1N7 ENTREZGENE
  I3L2F1_HUMAN UniProtKB/TrEMBL
  I3L2X4 ENTREZGENE, UniProtKB/TrEMBL
  I3L4B9_HUMAN UniProtKB/TrEMBL
  I3L4D0_HUMAN UniProtKB/TrEMBL
  P04278 ENTREZGENE
  P14689 ENTREZGENE
  Q16616 ENTREZGENE
  Q3MIL0 ENTREZGENE
  Q6ISD2 ENTREZGENE
  SHBG_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B0FWH4 UniProtKB/Swiss-Prot
  B4DYU0 UniProtKB/Swiss-Prot
  E9PGW1 UniProtKB/Swiss-Prot
  F5H5Z8 UniProtKB/Swiss-Prot
  I3L1N7 UniProtKB/Swiss-Prot
  P14689 UniProtKB/Swiss-Prot
  Q16616 UniProtKB/Swiss-Prot
  Q3MIL0 UniProtKB/Swiss-Prot
  Q6ISD2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SHBG  sex hormone binding globulin  SHBG  sex hormone-binding globulin  Symbol and/or name change 5135510 APPROVED