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

Gene ID: 3490, updated on 17-Mar-2024

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; AllianceGenome:HGNC:5476
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
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Genomic context

Location:
4q12
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (57030773..57110385, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60522210..60601772, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57896939..57976551, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900913 Neighboring gene RNA polymerase II subunit B Neighboring gene RNA, U6 small nuclear 998, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7637 Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15459 Neighboring gene IGFBP7 antisense RNA 1 Neighboring gene uncharacterized LOC107986283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58022957-58023466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58023467-58023975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58060229-58060730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:58060731-58061230 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:58090676-58091410 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:58131975-58132531 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:58153017-58153564 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:58153565-58154110 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial retinal arterial macroaneurysm
MedGen: C3280205 OMIM: 614224 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables insulin-like growth factor binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in embryo implantation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell population proliferation TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cortisol IEA
Inferred from Electronic Annotation
more info
 
involved_in 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)

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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

  1. NG_031877.1 RefSeqGene

    Range
    5001..84613
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001253835.2NP_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, ENST00000514062.2
    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_001553.3NP_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)
    AC069307, AI761388, BC066339
    Consensus CDS
    CCDS3512.1
    UniProtKB/Swiss-Prot
    B4E1N2, B7Z9W7, Q07822, Q16270, Q53YE6, Q9UCA8
    Related
    ENSP00000295666.4, ENST00000295666.6
    Conserved Domains (4) summary
    smart00280
    Location:111156
    KAZAL; Kazal type serine protease inhibitors
    cd00096
    Location:160163
    Ig; Ig strand A [structural motif]
    cl02472
    Location:3090
    IGFBP; Insulin-like growth factor binding protein
    cl11960
    Location:160265
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    57030773..57110385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    60522210..60601772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)