Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SHBG Gene

Aliases for SHBG Gene

  • Sex Hormone Binding Globulin 2 3 5
  • Testis-Specific Androgen-Binding Protein 3 4
  • Testosterone-Estradiol-Binding Globulin 3 4
  • Testosterone-Estrogen-Binding Globulin 3 4
  • Sex Hormone-Binding Globulin 2 3
  • Sex Steroid-Binding Protein 3 4
  • ABP 3 4
  • SBP 3 4
  • Testosterone-Binding Beta-Globulin 3
  • Androgen Binding Protein 2
  • TEBG 3
  • TeBG 4

External Ids for SHBG Gene

Previous GeneCards Identifiers for SHBG Gene

  • GC17P007947
  • GC17P008273
  • GC17P007474
  • GC17P007734
  • GC17P007731
  • GC17P007472
  • GC17P007535
  • GC17P007413
  • GC17P007519
  • GC17P007523

Summaries for SHBG Gene

Entrez Gene Summary for SHBG Gene

  • 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]

GeneCards Summary for SHBG Gene

SHBG (Sex Hormone Binding Globulin) is a Protein Coding gene. Diseases associated with SHBG include Anovulation and Ovarian Disease. Among its related pathways are CCR5 Pathway in Macrophages and Nongenotropic Androgen signaling. Gene Ontology (GO) annotations related to this gene include androgen binding. An important paralog of this gene is GAS6.

UniProtKB/Swiss-Prot for SHBG Gene

  • 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.

Gene Wiki entry for SHBG Gene

Additional gene information for SHBG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHBG Gene

Genomics for SHBG Gene

GeneHancer (GH) Regulatory Elements for SHBG Gene

Promoters and enhancers for SHBG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J007613 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.6 616 2.9 HDGF PKNOX1 ARID4B SIN3A YY1 POLR2B ZNF207 ZNF143 ZNF548 FOS FXR2 SHBG DVL2 SNORD10 PFAS WRAP53 SNORA48 CTC1 TP53 CNTROB
GH17J007625 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.4 +14.3 14277 5.8 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF416 SP3 NFYC MXD4 SAT2 GC17P007742 GC17P007770 GC17P007771 SHBG CHRNB1 DVL2 WRAP53 TP53 EFNB3
GH17J007632 Enhancer 0.7 ENCODE 0.4 +18.7 18702 0.2 HDGF CTCF STAT5A ZNF384 RAD21 ZNF335 ZNF366 ZBTB48 PATZ1 ZNF143 GC17P007742 ATP1B2 SHBG
GH17J007633 Enhancer 0.7 Ensembl 0.4 +19.0 18954 0.2 HDGF CTCF STAT5A YY1 ZNF335 ZNF366 ZBTB48 PATZ1 ZNF143 ZNF444 GC17P007742 ATP1B2 SHBG
GH17J007368 Enhancer 0.2 FANTOM5 1.3 -245.9 -245860 0.1 SLC35G6 WRAP53 SHBG GC17P007361 TNK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SHBG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SHBG gene promoter:
  • HNF-4alpha2
  • HNF-4alpha1
  • COUP-TF1
  • COUP-TF
  • COUP
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SHBG Gene

Genomic Locations for SHBG Gene
chr17:7,613,946-7,633,383
(GRCh38/hg38)
Size:
19,438 bases
Orientation:
Plus strand
chr17:7,517,382-7,536,700
(GRCh37/hg19)
Size:
19,319 bases
Orientation:
Plus strand

Genomic View for SHBG Gene

Genes around SHBG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHBG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHBG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHBG Gene

Proteins for SHBG Gene

  • Protein details for SHBG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04278-SHBG_HUMAN
    Recommended name:
    Sex hormone-binding globulin
    Protein Accession:
    P04278
    Secondary Accessions:
    • B0FWH4
    • E9PGW1
    • F5H5Z8
    • I3L1N7
    • P14689
    • Q16616
    • Q3MIL0
    • Q6ISD2

    Protein attributes for SHBG Gene

    Size:
    402 amino acids
    Molecular mass:
    43779 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=CAA29309.1; Type=Frameshift; Positions=47, 52, 54; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SHBG Gene

    Alternative splice isoforms for SHBG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHBG Gene

Post-translational modifications for SHBG Gene

  • Variant Asn-356 contains one N-linked (GlcNAc...) at position 356.
  • Glycosylation at isoforms=4, 5396, isoforms=4, 5380, and posLast=3636
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SHBG_HUMAN (562)

No data available for DME Specific Peptides for SHBG Gene

Domains & Families for SHBG Gene

Gene Families for SHBG Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SHBG Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SHBG: view

No data available for UniProtKB/Swiss-Prot for SHBG Gene

Function for SHBG Gene

Molecular function for SHBG Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
sex hormone-binding globulin gene

Phenotypes From GWAS Catalog for SHBG Gene

Gene Ontology (GO) - Molecular Function for SHBG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005496 steroid binding IEA --
GO:0005497 androgen binding TAS 2587256
GO:0005515 protein binding IPI 16143106
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with SHBG: view
genes like me logo Genes that share phenotypes with SHBG: view

Animal Model Products

CRISPR Products

miRNA for SHBG Gene

miRTarBase miRNAs that target SHBG

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHBG

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHBG Gene

Localization for SHBG Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHBG Gene

Secreted. Note=In testis, it is synthesized by the Sertoli cells, secreted into the lumen of the seminiferous tubule and transported to the epididymis. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHBG gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 2
cytosol 2
mitochondrion 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SHBG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 14718574
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with SHBG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SHBG Gene

Pathways & Interactions for SHBG Gene

genes like me logo Genes that share pathways with SHBG: view

Pathways by source for SHBG Gene

1 BioSystems pathway for SHBG Gene
1 Qiagen pathway for SHBG Gene

Gene Ontology (GO) - Biological Process for SHBG Gene

None

No data available for SIGNOR curated interactions for SHBG Gene

Drugs & Compounds for SHBG Gene

(124) Drugs for SHBG Gene - From: DrugBank, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Danazol Approved Pharma Carrier, antagonist 19
Estradiol Approved, Investigational, Vet_approved Pharma Carrier Sex hormone 1400
Estrone Approved Pharma Agonist, Target Estrogenic hormone 22
Testosterone Approved, Investigational Pharma Carrier, other/unknown Endogenous androgen receptor agonist 594
Diethylstilbestrol Approved, Investigational Pharma Antagonist, Agonist, Target 5

(35) Additional Compounds for SHBG Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Methoxyestrone
  • 2-(8S,9S,13S,14S)-3-Hydroxy-2-methoxy-13-methyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-17-one
  • 2-Hydroxyestrone 2-methyl ether
  • 2-Methoxy-17-oxoestra-1,3,5(10)-trien-3-ol
  • 2-Methoxy-3-hydroxyestra-1,3,5(10)-trien-17-one
  • 3-Hydroxy-2-methoxy-estra-1,3,5(10)-trien-17-one
362-08-3
genes like me logo Genes that share compounds with SHBG: view

Transcripts for SHBG Gene

Unigene Clusters for SHBG Gene

Sex hormone-binding globulin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHBG

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHBG Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9
SP1:
SP2: - -
SP3: -
SP4: - - -
SP5: -
SP6:

Relevant External Links for SHBG Gene

GeneLoc Exon Structure for
SHBG
ECgene alternative splicing isoforms for
SHBG

Expression for SHBG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SHBG Gene

mRNA differential expression in normal tissues according to GTEx for SHBG Gene

This gene is overexpressed in Liver (x26.3) and Testis (x6.1).

Protein differential expression in normal tissues from HIPED for SHBG Gene

This gene is overexpressed in Serum (33.4), Plasma (12.0), Skin (8.7), and Synovial fluid (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SHBG Gene



NURSA nuclear receptor signaling pathways regulating expression of SHBG Gene:

SHBG

SOURCE GeneReport for Unigene cluster for SHBG Gene:

Hs.632235

mRNA Expression by UniProt/SwissProt for SHBG Gene:

P04278-SHBG_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are present in liver and testis.

Evidence on tissue expression from TISSUES for SHBG Gene

  • Liver(4.6)
  • Bone marrow(4)
  • Blood(3.3)
  • Adrenal gland(2.5)
  • Thyroid gland(2.5)
  • Nervous system(2.2)
  • Urine(2)
genes like me logo Genes that share expression patterns with SHBG: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHBG Gene

Orthologs for SHBG Gene

This gene was present in the common ancestor of chordates.

Orthologs for SHBG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHBG 34 33
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SHBG 34 33
  • 82.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SHBG 34 33
  • 81.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shbg 33
  • 77.4 (n)
mouse
(Mus musculus)
Mammalia Shbg 16 34 33
  • 77.04 (n)
oppossum
(Monodelphis domestica)
Mammalia SHBG 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHBG 34
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHBG 34
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498622 33
  • 46.77 (n)
zebrafish
(Danio rerio)
Actinopterygii shbg 34 33
  • 43.96 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 11 (a)
ManyToMany
-- 34
  • 5 (a)
ManyToMany
Species where no ortholog for SHBG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SHBG Gene

ENSEMBL:
Gene Tree for SHBG (if available)
TreeFam:
Gene Tree for SHBG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHBG: view image

Paralogs for SHBG Gene

Paralogs for SHBG Gene

(2) SIMAP similar genes for SHBG Gene using alignment to 16 proteins:

  • SHBG_HUMAN
  • B0FWH2_HUMAN
  • B0FWH5_HUMAN
  • B0FWH6_HUMAN
  • B0FWH7_HUMAN
  • B0FWH8_HUMAN
  • B4DYU0_HUMAN
  • I3L0M1_HUMAN
  • I3L145_HUMAN
  • I3L1C1_HUMAN
  • I3L1G4_HUMAN
  • I3L1J1_HUMAN
  • I3L2F1_HUMAN
  • I3L2X4_HUMAN
  • I3L4B9_HUMAN
  • I3L4D0_HUMAN
genes like me logo Genes that share paralogs with SHBG: view

Variants for SHBG Gene

Sequence variations from dbSNP and Humsavar for SHBG Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000223321 -- 7,633,722(+) C/G downstream_transcript_variant
rs1000274522 -- 7,620,869(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000367065 -- 7,629,760(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000959745 -- 7,632,280(+) A/T intron_variant
rs1000978984 -- 7,614,497(+) C/G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SHBG Gene

Variant ID Type Subtype PubMed ID
nsv574322 CNV loss 21841781
nsv457659 CNV loss 19166990
nsv1152811 CNV deletion 26484159
esv3554089 CNV deletion 23714750
esv2715601 CNV deletion 23290073
esv2422288 CNV deletion 17116639
dgv531e199 CNV deletion 23128226

Variation tolerance for SHBG Gene

Residual Variation Intolerance Score: 47.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHBG Gene

Human Gene Mutation Database (HGMD)
SHBG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHBG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHBG Gene

Disorders for SHBG Gene

MalaCards: The human disease database

(69) MalaCards diseases for SHBG Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anovulation
ovarian disease
  • ovarian dysfunction
androgenic alopecia
  • androgenetic alopecia
hyperandrogenism
  • hyperandrogenization syndrome
polycystic ovary syndrome
  • pco
- elite association - COSMIC cancer census association via MalaCards
Search SHBG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SHBG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SHBG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHBG Gene

Publications for SHBG Gene

  1. Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians. (PMID: 20432167) Iwasaki M … Tsugane S (Nutrition and cancer 2010) 3 22 44 58
  2. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. (PMID: 18980759) Su MT … Kuo PL (Fertility and sterility 2010) 3 22 44 58
  3. Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. (PMID: 19933169) Perry JR … Frayling TM (Human molecular genetics 2010) 3 22 44 58
  4. Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3). (PMID: 19574343) Ahn J … Hayes RB (Human molecular genetics 2009) 3 22 44 58
  5. Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. (PMID: 19015200) Freedman ND … Abnet CC (Carcinogenesis 2009) 3 22 44 58

Products for SHBG Gene

Sources for SHBG Gene

Content
Loading form....