SHBG (sex hormone binding globulin) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SHBG (sex hormone binding globulin) Homo sapiens
Analyze
Symbol: SHBG
Name: sex hormone binding globulin
RGD ID: 736172
HGNC Page HGNC
Description: Predicted to have androgen binding activity. Localizes to extracellular exosome. Implicated in endometrial cancer and type 2 diabetes mellitus. Biomarker of diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 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 Ensembl177,613,946 - 7,633,382 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,614,064 - 7,633,372 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,517,382 - 7,536,690 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,474,216 - 7,477,395 (+)NCBINCBI36hg18NCBI36
Build 34177,474,215 - 7,477,395NCBI
Celera177,543,810 - 7,563,117 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,411,426 - 7,430,707 (+)NCBIHuRef
CHM1_1177,526,291 - 7,545,882 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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'-Dihydroxy-4-methoxybenzophenone  (EXP)
2,3,4,5-Tetrachloro-4'-biphenylol  (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-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)
alpha-Zearalanol  (EXP)
ammonium chloride  (ISO)
apigenin  (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)
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  (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)
levonorgestrel  (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)
monobenzyl phthalate  (EXP)
Monobutylphthalate  (EXP)
Moxestrol  (EXP)
Nonylphenol  (EXP,ISO)
Norethynodrel  (EXP)
norgestimate  (EXP)
olanzapine  (EXP)
oxandrolone  (EXP)
oxcarbazepine  (EXP)
palmitoyl-CoA  (EXP)
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)
stilbene-4,4'-diol  (EXP)
sulfur dioxide  (ISO)
tamoxifen  (EXP)
testosterone  (EXP)
tetramethrin  (EXP)
toremifene  (EXP)
trans-chalcone  (EXP)
trans-stilbene-4,4'-diol  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
Triphenylethylene  (EXP)
wortmannin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

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  
PMID:10419028   PMID:10675319   PMID:11140838   PMID:11473114   PMID:12015315   PMID:12039072   PMID:12054810   PMID:12065592   PMID:12081841   PMID:12151349   PMID:12228253   PMID:12235141  
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  
PMID:17706202   PMID:17890489   PMID:17893265   PMID:17952758   PMID:17992261   PMID:18047273   PMID:18056923   PMID:18188141   PMID:18192296   PMID:18312604   PMID:18318428   PMID:18437557  
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  
PMID:20839151   PMID:20841609   PMID:20943702   PMID:20974254   PMID:21030499   PMID:21158891   PMID:21178921   PMID:21193555   PMID:21252242   PMID:21261118   PMID:21317201   PMID:21613632  
PMID:21660442   PMID:21711374   PMID:21715040   PMID:21803356   PMID:21862168   PMID:21873635   PMID:21998597   PMID:22047952   PMID:22098307   PMID:22106826   PMID:22210320   PMID:22221653  
PMID:22242800   PMID:22301786   PMID:22469296   PMID:22547569   PMID:22548950   PMID:22559844   PMID:22591465   PMID:22612716   PMID:22675492   PMID:22711300   PMID:22711969   PMID:22829776  
PMID:22882730   PMID:22902540   PMID:22915343   PMID:22926300   PMID:22936694   PMID:22943902   PMID:23001781   PMID:23001782   PMID:23066943   PMID:23102785   PMID:23121021   PMID:23122048  
PMID:23164471   PMID:23283410   PMID:23305451   PMID:23318050   PMID:23376485   PMID:23393169   PMID:23397084   PMID:23408572   PMID:23463406   PMID:23533145   PMID:23548728   PMID:23594436  
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  
PMID:27154732   PMID:27323034   PMID:27323874   PMID:27355438   PMID:27363725   PMID:27576188   PMID:27583401   PMID:27673554   PMID:27748448   PMID:27753150   PMID:27797446   PMID:27873076  
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  


Genomics

Comparative Map Data
SHBG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,613,946 - 7,633,382 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,614,064 - 7,633,372 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,517,382 - 7,536,690 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,474,216 - 7,477,395 (+)NCBINCBI36hg18NCBI36
Build 34177,474,215 - 7,477,395NCBI
Celera177,543,810 - 7,563,117 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,411,426 - 7,430,707 (+)NCBIHuRef
CHM1_1177,526,291 - 7,545,882 (+)NCBICHM1_1
Shbg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,501,108 - 69,508,852 (-)NCBIGRCm39mm39
GRCm39 Ensembl1169,505,630 - 69,508,731 (-)Ensembl
GRCm381169,610,282 - 69,618,026 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,614,804 - 69,617,905 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,428,318 - 69,431,407 (-)NCBIGRCm37mm9NCBIm37
MGSCv361170,198,988 - 70,201,975 (-)NCBImm8
MGSCv361169,431,011 - 69,434,063 (-)NCBImm8
Cytogenetic Map11B3NCBI
cM Map1142.86NCBI
Shbg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21054,332,939 - 54,350,409 (-)NCBI
Rnor_6.0 Ensembl1056,219,858 - 56,223,245 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01056,219,861 - 56,237,354 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01055,965,499 - 55,983,036 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,432,474 - 56,435,654 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1177,645,188 - 7,650,552 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,645,187 - 7,650,552 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0177,658,831 - 7,664,631 (+)NCBIMhudiblu_PPA_v0panPan3
SHBG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl532,537,138 - 32,540,624 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1532,535,738 - 32,540,627 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Shbg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,002,380 - 7,012,170 (+)NCBI
ChlSab1.1 Ensembl167,008,682 - 7,012,764 (+)Ensembl
Shbg
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478610,234,484 - 10,239,034 (+)NCBI

Position Markers
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

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.


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
Medium 12 266 266 9 266 2 224 1
Low 585 196 1364 191 280 185 1393 451 2639 271 884 958 13 827 694 1
Below cutoff 1809 2492 93 164 1169 13 2884 1721 1068 138 335 632 156 374 2043 3

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
  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

Reference Sequences
RefSeq Acc Id: ENST00000340624   ⟹   ENSP00000345675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,627,969 - 7,633,382 (+)Ensembl
RefSeq Acc Id: ENST00000380450   ⟹   ENSP00000369816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,135 - 7,633,372 (+)Ensembl
RefSeq Acc Id: ENST00000416273   ⟹   ENSP00000388867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,152 - 7,633,372 (+)Ensembl
RefSeq Acc Id: ENST00000441599   ⟹   ENSP00000393426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,094 - 7,633,382 (+)Ensembl
RefSeq Acc Id: ENST00000570353   ⟹   ENSP00000458199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,152 - 7,633,372 (+)Ensembl
RefSeq Acc Id: ENST00000570527   ⟹   ENSP00000461162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,152 - 7,633,372 (+)Ensembl
RefSeq Acc Id: ENST00000570547   ⟹   ENSP00000458875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000571153   ⟹   ENSP00000458858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,254 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000572182   ⟹   ENSP00000458816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000572262   ⟹   ENSP00000459999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000574539   ⟹   ENSP00000458181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000575314   ⟹   ENSP00000458559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000575618   ⟹   ENSP00000459826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,254 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000575729   ⟹   ENSP00000458719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,627,969 - 7,631,260 (+)Ensembl
RefSeq Acc Id: ENST00000575903   ⟹   ENSP00000458973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,152 - 7,633,372 (+)Ensembl
RefSeq Acc Id: ENST00000576152   ⟹   ENSP00000461743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,254 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000576478   ⟹   ENSP00000461133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000576728   ⟹   ENSP00000459620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,614,064 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000576747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,631,309 - 7,632,057 (+)Ensembl
RefSeq Acc Id: ENST00000576830   ⟹   ENSP00000460219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,630,254 - 7,633,354 (+)Ensembl
RefSeq Acc Id: ENST00000624152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
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
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
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
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
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  
  P04278 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001031   ⟸   NM_001040
- Peptide Label: isoform 1 precursor
- UniProtKB: P04278 (UniProtKB/Swiss-Prot),   B0FWH2 (UniProtKB/TrEMBL)
- 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: P04278 (UniProtKB/Swiss-Prot),   B0FWH2 (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: P04278 (UniProtKB/Swiss-Prot),   I3L145 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276042   ⟸   NM_001289113
- Peptide Label: isoform 5
- UniProtKB: P04278 (UniProtKB/Swiss-Prot),   B0FWH8 (UniProtKB/TrEMBL),   B4DYU0 (UniProtKB/TrEMBL),   I3L145 (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:
RefSeq Acc Id: ENSP00000458199   ⟸   ENST00000570353
RefSeq Acc Id: ENSP00000461162   ⟸   ENST00000570527
RefSeq Acc Id: ENSP00000458875   ⟸   ENST00000570547
RefSeq Acc Id: ENSP00000458858   ⟸   ENST00000571153
RefSeq Acc Id: ENSP00000458816   ⟸   ENST00000572182
RefSeq Acc Id: ENSP00000459999   ⟸   ENST00000572262
RefSeq Acc Id: ENSP00000388867   ⟸   ENST00000416273
RefSeq Acc Id: ENSP00000393426   ⟸   ENST00000441599
RefSeq Acc Id: ENSP00000458181   ⟸   ENST00000574539
RefSeq Acc Id: ENSP00000459826   ⟸   ENST00000575618
RefSeq Acc Id: ENSP00000458559   ⟸   ENST00000575314
RefSeq Acc Id: ENSP00000458973   ⟸   ENST00000575903
RefSeq Acc Id: ENSP00000458719   ⟸   ENST00000575729
RefSeq Acc Id: ENSP00000461133   ⟸   ENST00000576478
RefSeq Acc Id: ENSP00000461743   ⟸   ENST00000576152
RefSeq Acc Id: ENSP00000460219   ⟸   ENST00000576830
RefSeq Acc Id: ENSP00000459620   ⟸   ENST00000576728
RefSeq Acc Id: ENSP00000345675   ⟸   ENST00000340624
RefSeq Acc Id: ENSP00000369816   ⟸   ENST00000380450
Protein Domains
LAM_G_DOMAIN   Laminin G-like

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

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 PARP Inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1 copy number loss VEGF Inhibitors 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
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 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
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic

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 Protein ENSP00000345675 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000369816 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388867 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393426 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000458181 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000458199 UniProtKB/TrEMBL
  ENSP00000458559 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000458719 UniProtKB/TrEMBL
  ENSP00000458816 UniProtKB/TrEMBL
  ENSP00000458858 UniProtKB/TrEMBL
  ENSP00000458875 UniProtKB/TrEMBL
  ENSP00000458973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000459620 UniProtKB/TrEMBL
  ENSP00000459826 UniProtKB/TrEMBL
  ENSP00000459999 UniProtKB/TrEMBL
  ENSP00000460219 UniProtKB/TrEMBL
  ENSP00000461133 UniProtKB/TrEMBL
  ENSP00000461162 UniProtKB/TrEMBL
  ENSP00000461743 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340624 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000380450 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000416273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000570353 UniProtKB/TrEMBL
  ENST00000570527 UniProtKB/TrEMBL
  ENST00000570547 UniProtKB/TrEMBL
  ENST00000571153 UniProtKB/TrEMBL
  ENST00000572182 UniProtKB/TrEMBL
  ENST00000572262 UniProtKB/TrEMBL
  ENST00000574539 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000575314 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000575618 UniProtKB/TrEMBL
  ENST00000575729 UniProtKB/TrEMBL
  ENST00000575903 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000576152 UniProtKB/TrEMBL
  ENST00000576478 UniProtKB/TrEMBL
  ENST00000576728 UniProtKB/TrEMBL
  ENST00000576830 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
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6462 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6462 ENTREZGENE
OMIM 182205 OMIM
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_HUMAN UniProtKB/TrEMBL
  B0FWH2 ENTREZGENE, UniProtKB/TrEMBL
  B0FWH5_HUMAN UniProtKB/TrEMBL
  B0FWH6_HUMAN UniProtKB/TrEMBL
  B0FWH7_HUMAN UniProtKB/TrEMBL
  B0FWH8 ENTREZGENE, UniProtKB/TrEMBL
  B4DYU0 ENTREZGENE, UniProtKB/TrEMBL
  I3L0M1_HUMAN UniProtKB/TrEMBL
  I3L145 ENTREZGENE, UniProtKB/TrEMBL
  I3L1C1_HUMAN UniProtKB/TrEMBL
  I3L1G4_HUMAN UniProtKB/TrEMBL
  I3L1J1_HUMAN UniProtKB/TrEMBL
  I3L2F1_HUMAN UniProtKB/TrEMBL
  I3L2X4_HUMAN UniProtKB/TrEMBL
  I3L4B9_HUMAN UniProtKB/TrEMBL
  I3L4D0_HUMAN UniProtKB/TrEMBL
  P04278 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B0FWH4 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    sex hormone-binding globulin  Symbol and/or name change 5135510 APPROVED
2011-08-16 SHBG  sex hormone-binding globulin  SHBG  sex hormone-binding globulin  Symbol and/or name change 5135510 APPROVED