IGFBP3 insulin like growth factor binding protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGFBP3provided by HGNC
Official Full Name: insulin like growth factor binding protein 3provided by HGNC
Primary source: HGNC:HGNC:5472
See related: Ensembl:ENSG00000146674 MIM:146732; AllianceGenome:HGNC:5472
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: IBP3; BP-53; IBP-3; IGFBP-3
Summary: This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Expression: Biased expression in placenta (RPKM 686.3), endometrium (RPKM 259.6) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p12.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (45912245..45921272, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (46073961..46082986, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (45951844..45960871, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome.
Title: IGF2BP2 and IGFBP3 Genotypes, Haplotypes, and Genetic Models Studies in Polycystic Ovary Syndrome.
Novel therapeutic targets, including IGFBP3, of umbilical cord mesenchymal stem-cell-conditioned medium in intrauterine adhesion.
Title: Novel therapeutic targets, including IGFBP3, of umbilical cord mesenchymal stem-cell-conditioned medium in intrauterine adhesion.
Insulin-like growth factor binding protein-3 mediates hyperosmolar stress-induced mitophagy through the mechanistic target of rapamycin.
Title: Insulin-like growth factor binding protein-3 mediates hyperosmolar stress-induced mitophagy through the mechanistic target of rapamycin.
Expression of insulin-like growth factor binding protein-3 in HELLP syndrome.
Title: Expression of insulin-like growth factor binding protein-3 in HELLP syndrome.
Insulin-like growth factor binding protein 3 promoter variant (rs2854744) is associated with nonalcoholic fatty liver disease.
Title: Insulin-like growth factor binding protein 3 promoter variant (rs2854744) is associated with nonalcoholic fatty liver disease.
MicroRNA-210-3p Regulates Endometriotic Lesion Development by Targeting IGFBP3 in Baboons and Women with Endometriosis.
Title: MicroRNA-210-3p Regulates Endometriotic Lesion Development by Targeting IGFBP3 in Baboons and Women with Endometriosis.
The relationship between serum leptin, insulin-like growth factor-1, and insulin-like growth factor binding protein-3 levels and clinical parameters in primary fibromyalgia patients.
Title: The relationship between serum leptin, insulin-like growth factor-1, and insulin-like growth factor binding protein-3 levels and clinical parameters in primary fibromyalgia patients.
Obese Asthma Phenotype Is Associated with hsa-miR-26a-1-3p and hsa-miR-376a-3p Modulating the IGF Axis.
Title: Obese Asthma Phenotype Is Associated with hsa-miR-26a-1-3p and hsa-miR-376a-3p Modulating the IGF Axis.
GATA4 inhibits odontoblastic differentiation of dental pulp stem cells through targeting IGFBP3.
Title: GATA4 inhibits odontoblastic differentiation of dental pulp stem cells through targeting IGFBP3.
Insulin-like growth factor binding protein-3 induces senescence by inhibiting telomerase activity in MCF-7 breast cancer cells.
Title: Insulin-like growth factor binding protein-3 induces senescence by inhibiting telomerase activity in MCF-7 breast cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (617)

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 study identifies novel loci associated with circulating IGF-I and IGFBP-3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 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

D7S2146E (e-PCR)
- UniSTS:151142

IGFBP3-5'1 (e-PCR)
- UniSTS:255342

IGFBP3-X2 (e-PCR)
- UniSTS:255343

IGFBP3-X3 (e-PCR)
- UniSTS:255344

IGFBP3-X4.2 (e-PCR)
- UniSTS:255346

IGFBP3-X4.3 (e-PCR)
- UniSTS:255347

IGFBP3-X4.4 (e-PCR)
- UniSTS:255348

IGFBP3-X4.5 (e-PCR)
- UniSTS:255349

Igfbp3 (e-PCR), detects polymorphism
- UniSTS:143488

STS-M35878 (e-PCR)
- UniSTS:72873

D7S2379 (e-PCR)
- UniSTS:73386

IGFBP3_1859 (e-PCR)
- UniSTS:280776

D7S2833 (e-PCR)
- UniSTS:14552

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibronectin binding	IBA Inferred from Biological aspect of Ancestor more info
enables insulin-like growth factor I binding	IBA Inferred from Biological aspect of Ancestor more info
enables insulin-like growth factor I binding	IPI Inferred from Physical Interaction more info	PubMed
enables insulin-like growth factor II binding	IBA Inferred from Biological aspect of Ancestor more info
enables insulin-like growth factor binding	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of insulin-like growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in type B pancreatic cell proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of insulin-like growth factor binding protein complex	IC Inferred by Curator more info	PubMed
part_of insulin-like growth factor ternary complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: insulin-like growth factor-binding protein 3

Names: IGF-binding protein 3; acid stable subunit of the 140 K IGF complex; binding protein 29; binding protein 53; growth hormone-dependent binding protein

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_011508.1 RefSeqGene

Range

5001..14028

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_68

mRNA and Protein(s)

NM_000598.5 → NP_000589.2 insulin-like growth factor-binding protein 3 isoform b precursor

See identical proteins and their annotated locations for NP_000589.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b).

Source sequence(s)

AI142967, AK056274, AU102436, BC064987

Consensus CDS

CCDS5505.1

UniProtKB/Swiss-Prot

A4D2F5, D3DVM0, P17936, Q2V509, Q6P1M6, Q9UCL4

UniProtKB/TrEMBL

B4DN53

Related

ENSP00000477772.2, ENST00000613132.5

Conserved Domains (2) summary

smart00121
Location:38 → 115

IB; Insulin growth factor-binding protein homologues

pfam00086
Location:213 → 285

Thyroglobulin_1; Thyroglobulin type-1 repeat
NM_001013398.2 → NP_001013416.1 insulin-like growth factor-binding protein 3 isoform a precursor

See identical proteins and their annotated locations for NP_001013416.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC091524, AI142967, AL540642, BC064987, X64875

Consensus CDS

CCDS34632.1

UniProtKB/TrEMBL

B4DN53

Related

ENSP00000370473.4, ENST00000381083.9

Conserved Domains (2) summary

smart00121
Location:38 → 115

IB; Insulin growth factor-binding protein homologues

pfam00086
Location:219 → 291

Thyroglobulin_1; Thyroglobulin type-1 repeat