Col4a2 collagen, type IV, alpha 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col4a2provided by MGI
Official Full Name: collagen, type IV, alpha 2provided by MGI
Primary source: MGI:MGI:88455
See related: Ensembl:ENSMUSG00000031503 AllianceGenome:MGI:88455
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Col4a-2
Summary: This gene encodes the alpha-2 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of alpha-1 and alpha-2 subunits that assembles into a type IV collagen network. Canstatin, a peptide derived fom the C-terminus of the collagen chain, is a matrikine that has been shown to inhibit angiogenesis. Homozygous knockout mice for this gene exhibit impaired basement membrane integrity and embryonic lethality. This gene shares a bi-directional promoter with a related gene on chromosome 8. [provided by RefSeq, Nov 2015]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 132.8), lung adult (RPKM 102.4) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A1.1; 8 5.62 cM

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (11362878..11499287)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (11312805..11449287)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
Title: Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
Elevated TGFbeta signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.
Title: Elevated TGFβ signaling contributes to cerebral small vessel disease in mouse models of Gould syndrome.
This work presents binding data consistent with a major role of 3-hydroxyproline in interactions of collagen IV with glycoprotein VI and nidogens 1 and 2.
Title: Post-translational modification of type IV collagen with 3-hydroxyproline affects its interactions with glycoprotein VI and nidogens 1 and 2.
Mutations in murine Col4a1 and Col4a2 genes affected the balance between lung epithelial progenitors and differentiated cells. Mutations in Col4a1 derived from the vascular component were sufficient to cause defects in vascular development and the blood-gas barrier. Col4a1 and Col4a2 mutants displayed disrupted myofibroblast proliferation, differentiation and migration.
Title: Type IV collagen drives alveolar epithelial-endothelial association and the morphogenetic movements of septation.
COL4A1 and COL4A2 mutations are pleiotropic and cause a wide spectrum of disorders, including ocular dysgenesis, brain malformations and myopathy, of variable severity in both mice and humans.
Title: Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.
WT1 maintains testicular cord integrity by additively regulating the expression of basal lamina components Col4a1 and Col4a2 with SOX9.
Title: The Wilms tumor gene, Wt1, maintains testicular cord integrity by regulating the expression of Col4a1 and Col4a2.
Data suggest that podocyte von Hippel-Lindau protein is required for normal maintenance of podocytes, basment membrane collagen {alpha}1{alpha}2{alpha}1(IV) deposition and ultrastructure, neuroglobin experssion and glomerular barrier properties.
Title: Deletion of von Hippel-Lindau in glomerular podocytes results in glomerular basement membrane thickening, ectopic subepithelial deposition of collagen {alpha}1{alpha}2{alpha}1(IV), expression of neuroglobin, and proteinuria.
These results indicate that SOX9 is essential for Col4a2 expression in mesangial cells and might be involved in the accumulation of alpha2(IV) collagen in experimental nephritis.
Title: SRY-related HMG box 9 regulates the expression of Col4a2 through transactivating its enhancer element in mesangial cells.
In murine embryos, collagen IV subunits alpha1(IV), alpha2(IV), alpha5(IV) and alpha6(IV) were detected in the basement membrane surrounding the lens vesicle, and they persisted in the capsule until adulthood.
Title: Collagen IV in the developing lens capsule.
The genetic, molecular, and phenotypic characterization of nine Col4a1 and three Col4a2 missense mutations recovered in random mutagenesis experiments in the mouse, are presented.
Title: Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Col4a2 (e-PCR), detects polymorphism
- UniSTS:496711

D8Mit218 (e-PCR), detects polymorphism
- UniSTS:131427

D8Mit218.2 (e-PCR), detects polymorphism
- UniSTS:131428

RH136411 (e-PCR)
- UniSTS:210401

NoName (e-PCR)
- UniSTS:225279

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in collagen-activated tyrosine kinase receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within collagen-activated tyrosine kinase receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endodermal cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
part_of collagen type IV trimer	IBA Inferred from Biological aspect of Ancestor more info
part_of collagen type IV trimer	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: collagen alpha-2(IV) chain

Names: canstatin; procollagen, type IV, alpha 2

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.