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

    Gene ID: 6462, updated on 29-Apr-2018
    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; Vega:OTTHUMG00000108153
    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
    See SHBG in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (7614064..7633383)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7517382..7536700)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100996842 Neighboring gene CD68 molecule Neighboring gene mannose-P-dolichol utilization defect 1 Neighboring gene SRY-box 15 Neighboring gene FMR1 autosomal homolog 2 Neighboring gene spermidine/spermine N1-acetyltransferase family member 2 Neighboring gene ATPase Na+/K+ transporting subunit beta 2 Neighboring gene tumor protein p53 Neighboring gene WD repeat containing antisense to TP53

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    Markers

    Homology

    Clone Names

    • MGC126834, MGC138391

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    androgen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    steroid binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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

    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
      21031..24320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040.4NP_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)
      AC007421, BC101785, EU352659, X05403
      Consensus CDS
      CCDS11117.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Related
      ENSP00000369816.4, OTTHUMP00000135293, ENST00000380450.8, OTTHUMT00000226957
      Conserved Domains (1) summary
      pfam00054
      Location:75205
      Laminin_G_1; Laminin G domain
    2. NM_001146279.2NP_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)
      AC007421, CD013957, EU352659, X05403
      Consensus CDS
      CCDS58513.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Related
      ENSP00000458973.1, OTTHUMP00000258250, ENST00000575903.5, OTTHUMT00000440072
      Conserved Domains (1) summary
      pfam00054
      Location:75199
      Laminin_G_1; Laminin G domain
    3. NM_001146280.2NP_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)
      AC007421, CD013955, EU352659, X05403
      Consensus CDS
      CCDS54082.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Related
      ENSP00000388867.3, OTTHUMP00000258249, ENST00000416273.7, OTTHUMT00000440071
      Conserved Domains (1) summary
      pfam00054
      Location:75205
      Laminin_G_1; Laminin G domain
    4. NM_001146281.2NP_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)
      AC007421, EU352659, EU352661, X05403
      Consensus CDS
      CCDS54083.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Related
      ENSP00000393426.2, ENST00000441599.6
      Conserved Domains (1) summary
      pfam00054
      Location:75205
      Laminin_G_1; Laminin G domain
    5. NM_001289113.1NP_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)
      AK302603, EU352665, X05403
      Consensus CDS
      CCDS73961.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH8, B4DYU0, I3L145
      Related
      ENSP00000345675.6, ENST00000340624.9
      Conserved Domains (1) summary
      pfam00054
      Location:17147
      Laminin_G_1; Laminin G domain
    6. NM_001289114.1NP_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/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      I3L145
      Related
      ENSP00000458559.1, OTTHUMP00000258242, ENST00000575314.5, OTTHUMT00000440064
      Conserved Domains (1) summary
      pfam00054
      Location:17147
      Laminin_G_1; Laminin G domain
    7. NM_001289115.1NP_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)
      AK302603, X05403
      Consensus CDS
      CCDS73962.1
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B4DYU0
      Related
      ENSP00000458181.1, OTTHUMP00000258240, ENST00000574539.5, OTTHUMT00000440062
      Conserved Domains (1) summary
      pfam00054
      Location:17147
      Laminin_G_1; Laminin G domain
    8. NM_001289116.1NP_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)
      AC007421, CD013958, EU352659, X05403
      UniProtKB/Swiss-Prot
      P04278
      UniProtKB/TrEMBL
      B0FWH2
      Conserved Domains (1) summary
      cl22861
      Location:3489
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      7614064..7633383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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