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

Summary

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

Location:: 17p13.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7614064..7633372)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7518285..7537563)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7517382..7536690)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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).
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.
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.
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.
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.
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.
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.
The relationship between sex hormone-binding protein and non-alcoholic fatty liver disease using Mendelian randomisation.
Title: The relationship between sex hormone-binding protein and non-alcoholic fatty liver disease using Mendelian randomisation.

Submit: New GeneRIF Correction See all GeneRIFs (301)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC150924P1 (e-PCR)
- UniSTS:271122

SHGC-35513 (e-PCR)
- UniSTS:82469

SHGC-166 (e-PCR)
- UniSTS:68652

NoName (e-PCR)
- UniSTS:483378

RH18329 (e-PCR)
- UniSTS:40027

NoName (e-PCR)
- UniSTS:481391

RH66154 (e-PCR)
- UniSTS:92575

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 more info	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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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

NG_011981.2 RefSeqGene

Range

21072..24309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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 ...