IGFBP5 insulin like growth factor binding protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IGFBP5provided by HGNC
Official Full Name: insulin like growth factor binding protein 5provided by HGNC
Primary source: HGNC:HGNC:5474
See related: Ensembl:ENSG00000115461 MIM:146734
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IBP5
Expression: Broad expression in ovary (RPKM 758.5), endometrium (RPKM 331.1) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	2	NC_000002.12 (216672105..216695549, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (217536828..217560272, complement)

Chromosome 2 - NC_000002.12 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?

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Title: Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.
Title: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.
Insulin-Like Growth Factor Binding Protein-5 in Physiology and Disease.
Title: Insulin-Like Growth Factor Binding Protein-5 in Physiology and Disease.
Homocysteine downregulates cardiac homeobox transcription factor NKX2.5 via IGFBP5.
Title: Homocysteine downregulates cardiac homeobox transcription factor NKX2.5 via IGFBP5.
MicroRNA-193a-3p participates in the progression of rheumatoid arthritis by regulating proliferation and apoptosis of MH7A cells through targeting IGFBP5.
Title: MicroRNA-193a-3p participates in the progression of rheumatoid arthritis by regulating proliferation and apoptosis of MH7A cells through targeting IGFBP5.
IGFBP5 modulates lipid metabolism and insulin sensitivity through activating AMPK pathway in non-alcoholic fatty liver disease.
Title: IGFBP5 modulates lipid metabolism and insulin sensitivity through activating AMPK pathway in non-alcoholic fatty liver disease.
Down-regulation of insulin-like growth factor binding protein 5 is involved in intervertebral disc degeneration via the ERK signalling pathway.
Title: Down-regulation of insulin-like growth factor binding protein 5 is involved in intervertebral disc degeneration via the ERK signalling pathway.
IGFBP5 is down regulated in Kidney renal papillary renal cell carcinoma kidney tissues compared to its expression in control tissues and that the expression of IGFBP5 is negatively related to patient survival
Title: Insulin-Like Growth Factor Binding Protein 5-A Probable Target of Kidney Renal Papillary Renal Cell Carcinoma.
These data lend support for the idea that unidentified cortical proteins like IGFBP5, which may not manifest a known pathologic footprint, may contribute to motor and cognitive function in older adults.
Title: Cognition may link cortical IGFBP5 levels with motor function in older adults.
Birth weight and length Z-scores were negatively associated with Z-scores of intact IGFBP-4, PAPP-A, and PAPP-A2 levels
Title: Placental proteases PAPP-A and PAPP-A2, the binding proteins they cleave (IGFBP-4 and -5), and IGF-I and IGF-II: Levels in umbilical cord blood and associations with birth weight and length.

Submit: New GeneRIF Correction See all GeneRIFs (119)

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

Associated conditions

Description	Tests
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network. GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available

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

Igfbp5 (e-PCR), detects polymorphism
- UniSTS:471316

SGC31996 (e-PCR)
- UniSTS:80917

RH75182 (e-PCR)
- UniSTS:85051

IGFBP5_747 (e-PCR)
- UniSTS:277359

IGFBP5_V100 (e-PCR)
- UniSTS:277359

L27559 (e-PCR)
- UniSTS:69500

Igfbp5 (e-PCR), detects polymorphism
- UniSTS:143490

D2S1600E (e-PCR)
- UniSTS:150683

STS-T65427 (e-PCR)
- UniSTS:28075

WI-20588 (e-PCR)
- UniSTS:28076

D2S2725 (e-PCR)
- UniSTS:36305

G60184 (e-PCR)
- UniSTS:137443

D2S2836 (e-PCR)
- UniSTS:42735

Homology

Homologs of the IGFBP5 gene: The IGFBP5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 333 organisms have orthologs with human gene IGFBP5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibronectin binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables insulin-like growth factor I binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aging	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to organic cyclic compound	IDA Inferred from Direct Assay more info	PubMed
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in mammary gland involution	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of insulin-like growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of skeletal muscle hypertrophy	IEA Inferred from Electronic Annotation more info
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 negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin-like growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein kinase B signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell growth	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	PubMed
involved_in response to growth hormone	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in striated muscle cell differentiation	IEA Inferred from Electronic Annotation 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	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

General protein information

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Preferred Names: insulin-like growth factor-binding protein 5

Names: IBP-5; IGF-binding protein 5; IGFBP-5

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.

mRNA and Protein(s)

NM_000599.4 → NP_000590.1 insulin-like growth factor-binding protein 5 precursor

See identical proteins and their annotated locations for NP_000590.1

Status: VALIDATED

Source sequence(s)

AC007563

Consensus CDS

CCDS2405.1

UniProtKB/Swiss-Prot

P24593

UniProtKB/TrEMBL

A0A024R433

Related

ENSP00000233813.4, ENST00000233813.5

Conserved Domains (2) summary

smart00121
Location:25 → 101

IB; Insulin growth factor-binding protein homologues

pfam00086
Location:192 → 263

Thyroglobulin_1; Thyroglobulin type-1 repeat