Human Gene SHBG (uc002gie.2)
  Description: Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.
RefSeq Summary (NM_001040): 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, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
Transcript (Including UTRs)
   Position: hg19 chr17:7,533,453-7,536,700 Size: 3,248 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr17:7,533,491-7,536,670 Size: 3,180 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:7,533,453-7,536,700)mRNA (may differ from genome)Protein (402 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SHBG_HUMAN
DESCRIPTION: RecName: Full=Sex hormone-binding globulin; Short=SHBG; AltName: Full=Sex steroid-binding protein; Short=SBP; AltName: Full=Testis-specific androgen-binding protein; Short=ABP; AltName: Full=Testosterone-estradiol-binding globulin; Short=TeBG; AltName: Full=Testosterone-estrogen-binding globulin; Flags: Precursor;
FUNCTION: Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Secreted (By similarity). Note=In testis, it is synthesized by the Sertoli cells, secreted into the lumen of the seminiferous tubule and transported to the epididymis (By similarity).
TISSUE SPECIFICITY: Isoform 1 and isoform 2 are present in liver and testis.
SIMILARITY: Contains 2 laminin G-like domains.
WEB RESOURCE: Name=Wikipedia; Note=Androgen-binding protein entry; URL="http://en.wikipedia.org/wiki/Androgen-binding_protein";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SHBG
CDC HuGE Published Literature: SHBG
Positive Disease Associations: bone density dihydrotestosterone estradiol sex hormone binding globulin testosterone , breast cancer , endometrial cancer , hormone disturbance , menarche , overall effect , polycystic ovary syndrome , prostate cancer , protein quantitative trait loci , systemic lupus erythematosus , Testosterone
Related Studies:
  1. bone density dihydrotestosterone estradiol sex hormone binding globulin testosterone
    Eriksson, A. L. et al. 2006, SHBG gene promoter polymorphisms in men are associated with serum SHBG, androgen and androgen metabolite levels and hip BMD, J Clin Endocrinol Metab 2006. [PubMed 16926255]
    Our findings demonstrate that polymorphisms in the SHBG promoter predict serum levels of SHBG, androgens, and glucuronidated androgen metabolites, and hip BMD in men.
  2. breast cancer
    Cui, Y. et al. 2005, Association of breast cancer risk with a common functional polymorphism (Asp327Asn) in the sex hormone-binding globulin gene., Cancer epidemiology, biomarkers & prevention. 2005 May;14(5):1096-101. [PubMed 15894658]
    This study suggests that the Asn allele in the SHBG gene may be related to a reduced risk of breast cancer among postmenopausal women by increasing their blood SHBG levels.
  3. endometrial cancer
    Kataoka, N. et al. 2007, Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene, Cancer 2007. [PubMed 17315164]
    The current results suggested that the codon 327 Asn allele in the SHBG gene may be related to a reduced risk of endometrial cancer among postmenopausal women.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: SHBG
Diseases sorted by gene-association score: polycystic ovary syndrome (61), anovulation (35), ovarian disease (31), androgenic alopecia (25), hyperandrogenism (22), sex differentiation disease (19), sebaceous gland disease (17), androgen insensitivity (16), seborrheic dermatitis (15), varicocele (15), hyperinsulinism (14), acne (13), gynecomastia (12), androgen insensitivity, partial, with or without breast cancer (12), nontoxic goiter (11), pelvic varices (11), postmenopausal atrophic vaginitis (11), impotence (11), hyperthyroidism (11), glucose intolerance (10), marasmus (9), testicular cancer (9), hypothyroidism (8), premature ovarian failure 1 (8), alopecia, androgenetic, 1 (8), turner syndrome (8), hypoactive sexual desire disorder (8), subacute thyroiditis (8), kwashiorkor (8), hypoadrenalism (8), gestational diabetes (8), acanthosis nigricans (8), prostatic adenoma (7), plummer's disease (7), hyperproinsulinemia (7), sexual disorder (7), amenorrhea (7), hermaphroditism (7), cryptorchidism (6), gonadal disease (6), estrogen excess (6), epileptic encephalopathy, childhood-onset (6), psychosexual disorder (6), breast disease (5), 46 xy gonadal dysgenesis (5), reproductive system disease (5), female reproductive system disease (5), premenstrual tension (4), complete androgen insensitivity syndrome (4), fetal erythroblastosis (4), thrombophilia due to activated protein c resistance (3), diabetes mellitus, noninsulin-dependent (3), alopecia (3), obesity (3), osteoporosis (3), endometrial cancer (3), focal epilepsy (2), prostate cancer (2), insulin-like growth factor i (2), breast cancer (2), overnutrition (1), diabetes mellitus, insulin-dependent (1), acquired metabolic disease (1), male reproductive organ cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.05 RPKM in Liver
Total median expression: 30.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.6038-0.226 Picture PostScript Text
3' UTR 0.00300.000 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR001791 - Laminin_G

Pfam Domains:
PF00054 - Laminin G domain
PF02210 - Laminin G domain

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1D2S - X-ray MuPIT 1F5F - X-ray MuPIT 1KDK - X-ray MuPIT 1KDM - X-ray MuPIT 1LHN - X-ray MuPIT 1LHO - X-ray MuPIT 1LHU - X-ray MuPIT 1LHV - X-ray MuPIT 1LHW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P04278
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005496 steroid binding
GO:0005497 androgen binding
GO:0005515 protein binding
GO:0008289 lipid binding

Cellular Component:
GO:0005576 extracellular region
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  EU352670 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 8, partial sequence, alternatively spliced.
EU352671 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 6 and 8, partial sequence, alternatively spliced.
EU352672 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 5 and 8, partial sequence, alternatively spliced.
EU352673 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 3, 5 and 8, partial sequence, alternatively spliced.
EU352674 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 3 and 8, partial sequence, alternatively spliced.
EU352675 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 3 and 5 through 8, partial sequence, alternatively spliced.
EU352676 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1N through 3, 5, 6, and 8, partial sequence, alternatively spliced.
AK302603 - Homo sapiens cDNA FLJ51403 complete cds, highly similar to Sex hormone-binding globulin precursor.
X16351 - Human testis mRNA for a sex hormone-binding related protein (SHBGgrp).
EU352665 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1T through 8 and complete cds, alternatively spliced.
EU352666 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1T through 5, 8 and complete cds, alternatively spliced.
EU352667 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1T through 3, 5, 6, 8 and complete cds, alternatively spliced.
EU352668 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1T through 3, 5, 8 and complete cds, alternatively spliced.
EU352669 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1T through 3, 8 and complete cds, alternatively spliced.
EU352659 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exon 1L and partial cds.
EU352660 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exon 1L and partial cds.
BC101785 - Homo sapiens sex hormone-binding globulin, mRNA (cDNA clone MGC:126834 IMAGE:8069291), complete cds.
BC112186 - Homo sapiens sex hormone-binding globulin, mRNA (cDNA clone MGC:138391 IMAGE:8327654), complete cds.
KJ892136 - Synthetic construct Homo sapiens clone ccsbBroadEn_01530 SHBG gene, encodes complete protein.
KR712182 - Synthetic construct Homo sapiens clone CCSBHm_00036672 SHBG (SHBG) mRNA, encodes complete protein.
KR712183 - Synthetic construct Homo sapiens clone CCSBHm_00036673 SHBG (SHBG) mRNA, encodes complete protein.
BC069597 - Homo sapiens sex hormone-binding globulin, mRNA (cDNA clone IMAGE:7262432), partial cds.
X05403 - Human mRNA for sex hormone-binding globulin (SHBG).
EU352661 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1L through 5, 8 and partial cds, alternatively spliced.
EU352662 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1L through 3, 5, 6, 8 and partial cds, alternatively spliced.
EU352663 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1L through 3, 5, 8 and partial cds, alternatively spliced.
EU352664 - Homo sapiens sex hormone binding globulin (SHBG) mRNA, exons 1L through 3, 8 and partial cds, alternatively spliced.
X05885 - Human mRNA for sex hormon binding globulin (SHBG).
X05792 - Human mRNA for plasma sex steroid-binding protein (SBP).

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001040, NP_001031, P04278, P14689, Q16616, Q3MIL0, Q6ISD2, SHBG_HUMAN
UCSC ID: uc002gie.2
RefSeq Accession: NM_001040
Protein: P04278 (aka SHBG_HUMAN)
CCDS: CCDS11117.1, CCDS58513.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001040.3
exon count: 8CDS single in 3' UTR: no RNA size: 1277
ORF size: 1209CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2618.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.