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IGFBP7 insulin like growth factor binding protein 7 [ Homo sapiens (human) ]

Gene ID: 3490, updated on 12-Aug-2018

Summary

Official Symbol
IGFBP7provided by HGNC
Official Full Name
insulin like growth factor binding protein 7provided by HGNC
Primary source
HGNC:HGNC:5476
See related
Ensembl:ENSG00000163453 MIM:602867; Vega:OTTHUMG00000128772
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
AGM; PSF; TAF; FSTL2; IBP-7; MAC25; IGFBP-7; RAMSVPS; IGFBP-7v; IGFBPRP1
Summary
This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
Expression
Broad expression in kidney (RPKM 607.4), gall bladder (RPKM 382.6) and 21 other tissues See more
Orthologs

Genomic context

See IGFBP7 in Genome Data Viewer
Location:
4q12
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (57031071..57110385, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57897237..57976551, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene nitric oxide associated 1 Neighboring gene RNA polymerase II subunit B Neighboring gene RNA, U6 small nuclear 998, pseudogene Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 3 Neighboring gene IGFBP7 antisense RNA 1 Neighboring gene uncharacterized LOC107986283 Neighboring gene ribosomal protein S26 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • 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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
MedGen: C3280205 OMIM: 614224 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent HDA PubMed 
insulin-like growth factor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
embryo implantation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to cortisol IEA
Inferred from Electronic Annotation
more info
 
response to heat IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
insulin-like growth factor-binding protein 7
Names
IGF-binding protein 7
IGFBP-rP1
PGI2-stimulating factor
angiomodulin
prostacyclin-stimulating factor
tumor-derived adhesion factor

NCBI Reference Sequences (RefSeq)

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_031877.1 RefSeqGene

    Range
    5001..84315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253835.1NP_001240764.1  insulin-like growth factor-binding protein 7 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001240764.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs at the 3' end, and lacks the 3' terminal exon compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Expression of this variant has been associated with retinal arterial macroaneurysm (PMID:21835307).
    Source sequence(s)
    AK303915
    Consensus CDS
    CCDS58900.1
    UniProtKB/Swiss-Prot
    Q16270
    Related
    ENSP00000486293.1, OTTHUMP00000278829, ENST00000514062.2, OTTHUMT00000362250
    Conserved Domains (3) summary
    smart00280
    Location:111156
    KAZAL; Kazal type serine protease inhibitors
    cl02472
    Location:3090
    IGFBP; Insulin-like growth factor binding protein
    cl28434
    Location:160265
    I-set; Immunoglobulin I-set domain
  2. NM_001553.2NP_001544.1  insulin-like growth factor-binding protein 7 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001544.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
    Source sequence(s)
    AI761388, BC066339
    Consensus CDS
    CCDS3512.1
    UniProtKB/Swiss-Prot
    Q16270
    Related
    ENSP00000295666.4, OTTHUMP00000158974, ENST00000295666.6, OTTHUMT00000250693
    Conserved Domains (3) summary
    smart00280
    Location:111156
    KAZAL; Kazal type serine protease inhibitors
    cl02472
    Location:3090
    IGFBP; Insulin-like growth factor binding protein
    cl28434
    Location:160265
    I-set; Immunoglobulin I-set domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    57031071..57110385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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