|
Gene id |
6462 |
| Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SHBG Gene UCSC Ensembl |
|
Aliases |
ABP, SBP, TEBG |
|
Gene name |
sex hormone binding globulin |
|
Alternate names |
sex hormone-binding globulin, sex steroid-binding protein, testis-specific androgen-binding protein, testosterone-binding beta-globulin, testosterone-estradiol-binding globulin, testosterone-estrogen-binding globulin, |
|
Gene location |
17p13.1 (7614063: 7633382) Exons: 10 NC_000017.11
|
|
Gene summary(Entrez) |
This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, b
|
|
OMIM |
182205 |
SNPs |
rs1799941
Strand: Allele origin: Allele change: Mutation type: snv
NC_000017.11 g.7630105G>A
NC_000017.10 g.7533423G>A
NG_011981.2 g.21042G>A
NM_001146281.2 c.-68G>A
NM_001146279.2 c.-68G>A
NM_001146280.2 c.-68G>A
NM_001289116.1 c.-324G>A|SEQ=[G/A]|GENE=SHBG
rs6259
Strand: Allele origin: Allele change: Mutation type: snv
NC_000017.11 g.7633209G>A
NC_000017.10 g.7536527G>A
NG_011981.2 g.24146G>A
NM_001040.5 c.1066G>A
NM_001040.4 c.1066G>A
NM_001040.3 c.1066G>A
NM_001146279.3 c.1012G>A
NM_001146279.2 c.1012G>A
NM_001146279.1 c.1012G>A
NM_001146280.3 c.858G>A
NM_0011462
|
Protein Summary
|
| Protein general information
| P04278
Name: Sex hormone binding globulin (SHBG) (Sex steroid binding protein) (SBP) (Testis specific androgen binding protein) (ABP) (Testosterone estradiol binding globulin) (TeBG) (Testosterone estrogen binding globulin)
Length: 402 Mass: 43,779
Tissue specificity: Very high levels in testis and very low levels in brain. Also found in myeloid leukemia cell lines.
|
| Sequence |
MESRGPLATSRLLLLLLLLLLRHTRQGWALRPVLPTQSAHDPPAVHLSNGPGQEPIAVMTFDLTKITKTSSSFEV
RTWDPEGVIFYGDTNPKDDWFMLGLRDGRPEIQLHNHWAQLTVGAGPRLDDGRWHQVEVKMEGDSVLLEVDGEEV
LRLRQVSGPLTSKRHPIMRIALGGLLFPASNLRLPLVPALDGCLRRDSWLDKQAEISASAPTSLRSCDVESNPGI
FLPPGTQAEFNLRDIPQPHAEPWAFSLDLGLKQAAGSGHLLALGTPENPSWLSLHLQDQKVVLSSGSGPGLDLPL
VLGLPLQLKLSMSRVVLSQGSKMKALALPPLGLAPLLNLWAKPQGRLFLGALPGEDSSTSFCLNGLWAQGQRLDV
DQALNRSHEIWTHSCPQSPGNGTDASH
|
| Structural information |
|
| Other Databases |
GeneCards: SHBG Malacards: SHBG |
|
| GO accession | Term name | Evidence code | Go category |
|---|
| GO:0005497 |
androgen binding
|
TAS |
molecular function |
GO:0005576 |
extracellular region
|
NAS |
cellular component |
GO:0070062 |
extracellular exosome
|
IDA |
cellular component |
GO:0070062 |
extracellular exosome
|
IDA |
cellular component |
GO:0005496 |
steroid binding
|
IEA |
molecular function |
GO:0005497 |
androgen binding
|
TAS |
molecular function |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0005576 |
extracellular region
|
NAS |
cellular component |
GO:0008289 |
lipid binding
|
IEA |
molecular function |
GO:0070062 |
extracellular exosome
|
IDA |
cellular component |
GO:0070062 |
extracellular exosome
|
IDA |
cellular component |
GO:0005497 |
androgen binding
|
TAS |
molecular function |
GO:0005576 |
extracellular region
|
NAS |
cellular component |
GO:0070062 |
extracellular exosome
|
IDA |
cellular component |
GO:0070062 |
extracellular exosome
|
IDA |
cellular component |
|
|
| Associated diseases |
References |
| Cancer | GAD: 18318428 |
| Cancer (bladder) | GAD: 19692168 |
| Cancer (endometrial) | GAD: 17315164 |
| Cancer (breast) | GAD: 15894658 |
| Cancer (epithelial ovarian) | GAD: 19064572 |
| Cancer (lung) | GAD: 18676680 |
| Cancer (lymphoma) | GAD: 18636124 |
| Cancer (ovarian) | GAD: 17411440 |
| Cancer (prostate) | GAD: 17176215 |
| Cancer (stomach) | GAD: 19015200 |
| Coronary heart disease | GAD: 18056923 |
| Cardiovascular disease | GAD: 18188141 |
| Hyperandrogenism | GAD: 20691435 |
| Hyperandrogenism | INFBASE: 20378617 |
| Systemic lupus erythematosus (SLE) | GAD: 19649728 |
| Diabetes | GAD: 19657112 |
| Insulin resistance | GAD: 18505907 |
| Obesity | GAD: 20734064 |
| Osteoporosis | GAD: 19091090 |
| Bone diseases | GAD: 19453261 |
| Attention deficit disorder conduct disorder oppositional defiant disorder | GAD: 11140838 |
| Psychological disorders | GAD: 19086053 |
| Autism | GAD: 19598235 |
| Chronic renal failure | GAD: 21085059 |
| Abortion | GAD: 20716560 |
| Infertility | GAD: 20540673 |
| Premature ovarian failure (POF) | GAD: 17706202 |
| Spermatogenesis defects | GAD: 18980759 |
| Premature ovarian failure (POF) | GAD: 17706202 |
| Secondary amennorhea | INFBASE: 3674729 |
| Luteal phase defect | INFBASE: 8540288 |
| Follicle size | INFBASE: 20540673 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 25530260 |
| Ovarian dysfunction | INFBASE: 11927624 |
| Ovarian endometriosis | INFBASE: 7734053 |
| Cryptorchidism | MIK: 2878796 |
| Sperm concentration and motility | MIK: 21429951 |
| Semen quality | MIK: 18477206 |
| Male factor infertility | MIK: 20974254 |
| Azoospermia | MIK: 18980759 |
| Sperm motility | MIK: 21429951 |
| Spermatogenesis defects | MIK: 21429951 |
| Testicular maldescent | MIK: 22591465 |
| Oligozoospermia | MIK: 18980759 |
| Spermatogenesis defects | MIK: 18980759 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Cryptorchidism | MIK: 2878796 |
| Male infertility | MIK: 20974254 |
| Oligozoospermia | MIK: 18980759 |
| Azoospermia | MIK: 18980759 |
| Spermatogenic defects | MIK: 18980759 |
| Semen quality | MIK: 18477206 |
| Sperm concentration | MIK: 21429951 |
| Sperm motility | MIK: 21429951 |
| Testicular maldescent | MIK: 22591465 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21429951 |
Spermatoge
nesis defe
cts
|
rs1801132 and rs2228480 of the ER-? gene, rs1256049 and rs4986938 of the ER-? gene, rs605059 of the HSD17B1 gene, rs1799941 of the SHBG gene and rs1048943 and rs4646903 of the CYP1A1 gene |
|
677 (10 fertile
men, 467 infer
tile men)
|
Male infertility |
ER-?
ER-?
CYP19A1
HSD17B1
CYP1A1
CYP1B1
COMT
GSTM1
GSTT1
SHBG
|
Show abstract |
| 22591465 |
Testicular
maldescen
t
|
(TAAAA)n polymorphism |
|
487 (180 childr
en with all phe
notypes of TMD,
307 parents (
156 mothers and
151 fathers).)
|
Male infertility |
|
Show abstract |
| 20974254 |
Male infer
tility
|
(TAAAA)n repeat and Asp327Asn polymorphisms |
|
|
Male infertility |
|
Show abstract |
| 2878796 |
Cryptorchi
dism
|
|
|
53 patients wit
h cryptorchidis
m
|
Male infertility |
|
Show abstract |
| 18980759 |
Oligozoosp
ermia, azo
ospermia,
impaired s
permatogen
esis
|
(rs180113 of ER-alpha gene, rs1256049 of ER-beta gene, rs1048943 of CYP1A1 gene, rs8191246 of HSD17B2 gene, and rs1799941 along with rs6259 of SHBG gene |
Taiwane
se Han
|
303 (183 oligoz
oospermatic (sp
erm count <20 x
10(6)/mL) or a
zoospermatic ma
les, 120 fertil
e control males
)
|
Male infertility |
ER-alpha
ER-beta
CYP17
CYP19A1
HSD17B2
CYP1A1
CYP1B1
COMT
SHBG
|
Show abstract |
| 18477206 |
Semen qual
ity
|
AR(CAG)n |
|
114 (85 with no
rmal sperm coun
t, 29 oligosper
mic)
|
Male infertility |
AR
SHBG
|
Show abstract |
|