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    SHBG sex hormone binding globulin [ Homo sapiens (human) ]

    Gene ID: 6462, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SHBGprovided by HGNC
    Official Full Name
    sex hormone binding globulinprovided by HGNC
    Primary source
    HGNC:HGNC:10839
    See related
    Ensembl:ENSG00000129214 MIM:182205; AllianceGenome:HGNC:10839
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABP; SBP; TEBG
    Summary
    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]
    Expression
    Biased expression in liver (RPKM 11.7), testis (RPKM 2.8) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHBG in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7614064..7633372)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7518285..7537563)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7517382..7536690)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7492556-7493130 Neighboring gene mannose-P-dolichol utilization defect 1 Neighboring gene SRY-box transcription factor 15 Neighboring gene FMR1 autosomal homolog 2 Neighboring gene uncharacterized LOC124904134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8133 Neighboring gene MPRA-validated peak2713 silencer Neighboring gene tRNA-undetermined (NNN) 6-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11640 Neighboring gene spermidine/spermine N1-acetyltransferase family member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7551198-7551407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7552896-7553396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7553397-7553897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7554172-7554814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7558514-7559332 Neighboring gene ATPase Na+/K+ transporting subunit beta 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7571230-7572027 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7580287-7580898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7580899-7581510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7581511-7582121 Neighboring gene tumor protein p53 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898 Neighboring gene WD repeat containing antisense to TP53

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The contribution of SHBG to the variation in HOMA-IR is not dependent on endogenous oestrogen or androgen levels in postmenopausal women. Davis SR, et al. Clin Endocrinol (Oxf), 2012 Oct. PMID 22106826
    2. [Extremely low SHBG level in consequence of Pro156Leu SHBG polymorphism--case reports of two women with polycystic ovary syndrome]. Vanková M, et al. Vnitr Lek, 2010 Dec. PMID 21261118
    3. Diverse roles for sex hormone-binding globulin in reproduction. Hammond GL. Biol Reprod, 2011 Sep. PMID 21613632, Free PMC Article
    4. Changes in the sex hormone profile of male patients with moderate-to-severe plaque-type psoriasis under systemic therapy: results of a prospective longitudinal pilot study. Boehncke S, et al. Arch Dermatol Res, 2011 Aug. PMID 21660442
    5. Associations between glucose tolerance and sex hormone binding globulin among women with recent gestational diabetes mellitus. Kim C, et al. Diabetes Res Clin Pract, 2011 Sep. PMID 21715040, Free PMC Article

    See all (365) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Examining the causal relationship between sex hormone-binding globulin (SHBG) and infertility: A Mendelian randomization study.
      Title: Examining the causal relationship between sex hormone-binding globulin (SHBG) and infertility: A Mendelian randomization study.
    2. Blood lipid levels mediating the effects of sex hormone-binding globulin on coronary heart disease: Mendelian randomization and mediation analysis.
      Title: Blood lipid levels mediating the effects of sex hormone-binding globulin on coronary heart disease: Mendelian randomization and mediation analysis.
    3. Causal relationship between schizophrenia and sex hormone binding globulin: A Mendelian randomization study.
      Title: Causal relationship between schizophrenia and sex hormone binding globulin: A Mendelian randomization study.
    4. Longitudinal Changes in Sex Hormone Binding Globulin (SHBG) and Risk of Incident Diabetes: The Study of Women's Health Across the Nation (SWAN).
      Title: Longitudinal Changes in Sex Hormone Binding Globulin (SHBG) and Risk of Incident Diabetes: The Study of Women's Health Across the Nation (SWAN).
    5. Association of Testosterone and Sex Hormone-Binding Globulin With All-Cause and Cardiovascular Disease Mortality in Older Chinese Men.
      Title: Association of Testosterone and Sex Hormone-Binding Globulin With All-Cause and Cardiovascular Disease Mortality in Older Chinese Men.
    6. Sex-Hormone-Binding Globulin Gene Polymorphisms and Breast Cancer Risk in Caucasian Women of Russia.
      Title: Sex-Hormone-Binding Globulin Gene Polymorphisms and Breast Cancer Risk in Caucasian Women of Russia.
    7. The Association Between SHBG and Osteoporosis: A NHANES Cross-Sectional Study and A Bidirectional Mendelian Randomization.
      Title: The Association Between SHBG and Osteoporosis: A NHANES Cross-Sectional Study and A Bidirectional Mendelian Randomization.
    8. Sex Hormone-Binding Globulin and Risk of Incident Dementia in Middle-Aged to Older Women: Results from the UK Biobank Cohort Study.
      Title: Sex Hormone-Binding Globulin and Risk of Incident Dementia in Middle-Aged to Older Women: Results from the UK Biobank Cohort Study.
    9. Sex hormone-binding globulin exerts sex-related causal effects on lower extremity varicose veins: evidence from gender-stratified Mendelian randomization.
      Title: Sex hormone-binding globulin exerts sex-related causal effects on lower extremity varicose veins: evidence from gender-stratified Mendelian randomization.
    10. Associations of bone mineral density with sex hormone-binding globulin (SHBG) and testosterone in middle-aged Saudi men: a cross-sectional study.
      Title: Associations of bone mineral density with sex hormone-binding globulin (SHBG) and testosterone in middle-aged Saudi men: a cross-sectional study.
    Submit: New GeneRIF Correction See all GeneRIFs (302)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    EBI GWAS Catalog
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genetic determinants of serum testosterone concentrations in men.
    EBI GWAS Catalog
    Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
    EBI GWAS Catalog
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog
    Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126834, MGC138391

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables androgen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables steroid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sex hormone-binding globulin
    Names
    sex steroid-binding protein
    testis-specific androgen-binding protein
    testosterone-binding beta-globulin
    testosterone-estradiol-binding globulin
    testosterone-estrogen-binding globulin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011981.2 RefSeqGene

      Range
      21072..24309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040.5 → NP_001031.2  sex hormone-binding globulin isoform 1 precursor

      See identical proteins and their annotated locations for NP_001031.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), which has also been referred to as SHBG-L, encodes the longest protein (isoform 1).
      Source sequence(s)
      BC101785, EU352659
      Consensus CDS
      CCDS11117.1
      UniProtKB/Swiss-Prot
      B0FWH4, B4DYU0, E9PGW1, F5H5Z8, I3L1N7, P04278, P14689, Q16616, Q3MIL0, Q6ISD2
      Related
      ENSP00000369816.4, ENST00000380450.9
      Conserved Domains (1) summary
      pfam00054
      Location:75 → 205
      Laminin_G_1; Laminin G domain

    2. NM_001146279.3 → NP_001139751.1  sex hormone-binding globulin isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      CD013957, EU352659
      Consensus CDS
      CCDS58513.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Related
      ENSP00000458973.1, ENST00000575903.5
      Conserved Domains (1) summary
      pfam00054
      Location:75 → 199
      Laminin_G_1; Laminin G domain

    3. NM_001146280.3 → NP_001139752.1  sex hormone-binding globulin isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region which results in a frameshift compared to variant 1. Isoform 3 is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      CD013955, EU352659
      Consensus CDS
      CCDS54082.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Related
      ENSP00000388867.3, ENST00000416273.7
      Conserved Domains (1) summary
      pfam00054
      Location:75 → 205
      Laminin_G_1; Laminin G domain

    4. NM_001146281.3 → NP_001139753.1  sex hormone-binding globulin isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the 3' coding region but maintains the reading frame compared to variant 1. Isoforzm 4 is shorter compared to isoform 1.
      Source sequence(s)
      EU352659, EU352661, X05403
      Consensus CDS
      CCDS54083.1
      UniProtKB/TrEMBL
      A0A0C4DGN2
      Related
      ENSP00000393426.2, ENST00000441599.6
      Conserved Domains (1) summary
      pfam00054
      Location:75 → 205
      Laminin_G_1; Laminin G domain

    5. NM_001289113.2 → NP_001276042.1  sex hormone-binding globulin isoform 5

      See identical proteins and their annotated locations for NP_001276042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
      Source sequence(s)
      AC007421, AK302603, EU352665, X05403
      Consensus CDS
      CCDS73961.1
      UniProtKB/TrEMBL
      I3L145, I3L2X4
      Related
      ENSP00000345675.6, ENST00000340624.9
      Conserved Domains (1) summary
      pfam00054
      Location:17 → 147
      Laminin_G_1; Laminin G domain

    6. NM_001289114.2 → NP_001276043.1  sex hormone-binding globulin isoform 5

      See identical proteins and their annotated locations for NP_001276043.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1. Both variants 5 and 6 encode the same isoform.
      Source sequence(s)
      EU352670, X05403
      Consensus CDS
      CCDS73961.1
      UniProtKB/TrEMBL
      I3L145, I3L2X4
      Related
      ENSP00000458559.1, ENST00000575314.5
      Conserved Domains (1) summary
      pfam00054
      Location:17 → 147
      Laminin_G_1; Laminin G domain

    7. NM_001289115.2 → NP_001276044.1  sex hormone-binding globulin isoform 6

      See identical proteins and their annotated locations for NP_001276044.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks part of the 5' coding region, uses a downstream start codon, and lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (6) is shorter, compared to isoform 1.
      Source sequence(s)
      AC007421, AK302603, X05403
      Consensus CDS
      CCDS73962.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B4DYU0
      Related
      ENSP00000458181.1, ENST00000574539.5
      Conserved Domains (1) summary
      pfam00054
      Location:17 → 147
      Laminin_G_1; Laminin G domain

    8. NM_001289116.2 → NP_001276045.1  sex hormone-binding globulin isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses two alternate splice sites in the central coding regions, which results in a frameshift and use of an alternate start codon, compared to variant 1. The encoded isoform (7) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      CD013958, EU352659
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Conserved Domains (1) summary
      cl22861
      Location:34 → 89
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7614064..7633372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7518285..7537563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04278.2 GenPept UniProtKB/Swiss-Prot:P04278

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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