Col8a2 collagen, type VIII, alpha 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col8a2provided by MGI
Official Full Name: collagen, type VIII, alpha 2provided by MGI
Primary source: MGI:MGI:88464
See related: Ensembl:ENSMUSG00000056174 AllianceGenome:MGI:88464
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
Summary: Predicted to be an extracellular matrix structural constituent. Acts upstream of or within camera-type eye morphogenesis and epithelial cell proliferation. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in blood vessel; cornea endothelium; genitourinary system; and heart. Used to study Fuchs' endothelial dystrophy. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 2. Orthologous to human COL8A2 (collagen type VIII alpha 2 chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 16.0), bladder adult (RPKM 6.7) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 60.29 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (126180613..126208123)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (126286794..126314330)

Chromosome 4 - NC_000070.7 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?

Overexpression of the Col8a2 gene in mouse and human Fuchs endothelial corneal dystrophy endothelial cells suggested a role for altered autophagy in this disease.
Title: L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy.
in contrast to diabetic wild-type mice EMT-like changes were attenuated in diabetic Col8alpha1/alpha2-KO mice, indicating that collagen VIII may be 1 of the major inducers of epithelial-to-mesenchymal transition-like changes in kidneys of diabetic wild-type mice
Title: Collagen VIII influences epithelial phenotypic changes in experimental diabetic nephropathy.
study confirms the Q455K substitution in the COL8A2 gene as being sufficient to cause FECD in the first mouse model of this disease and supports the role of the UPR and UPR-associated apoptosis in the pathogenesis of FECD caused by COL8A2 mutations
Title: An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.
Type VIII collagen significantly modulates the effect of TGF-beta1 on mesangial cells and may therefore play a role in the pathogenesis of diabetic nephropathy.
Title: Type VIII collagen modulates TGF-β1-induced proliferation of mesangial cells.
The mouse mutant Aca23 described here offers the first point mutation of the Col8a2 gene and suggests that a functional collagen VIII alpha2 gene is essential for the correct assembly of the Descemet's membrane and for corneal stability.
Title: Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse.
Lack of type VIII collagen confers renoprotection in diabetic nephropathy in a knockout mouse model.
Title: Lack of type VIII collagen in mice ameliorates diabetic nephropathy.
Smooth muscle cells can modify the matrix microenvironment by producing type VIII collagen, using it to overlay type I collagen, and generating a substrate favorable for migration
Title: Migration and growth are attenuated in vascular smooth muscle cells with type VIII collagen-null alleles.

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Variation

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Alleles

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

Targeted (3) 1 citation
Chemically induced (ENU) (1) 1 citation

General gene information

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Markers

AI429819 (e-PCR)
- UniSTS:159290

Col8a2 (e-PCR), detects polymorphism
- UniSTS:226046

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within camera-type eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endothelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
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(VIII) chain

Names: endothelial collagen; procollagen, type VIII, 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.

mRNA and Protein(s)

NM_199473.3 → NP_955767.1 collagen alpha-2(VIII) chain precursor

See identical proteins and their annotated locations for NP_955767.1

Status: VALIDATED

Source sequence(s)

AL606976

Consensus CDS

CCDS18649.1

UniProtKB/Swiss-Prot

A3KFY2, P25318, Q68ED0, Q6KAQ4, Q6P1C4

Related

ENSMUSP00000070270.7, ENSMUST00000070132.7

Conserved Domains (2) summary

smart00110
Location:564 → 699

C1Q; Complement component C1q domain

pfam01391
Location:236 → 297

Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

126180613..126208123

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017320266.3 → XP_017175755.1 collagen alpha-2(VIII) chain isoform X1

Conserved Domains (2) summary

smart00110
Location:580 → 715

C1Q; Complement component C1q domain

pfam01391
Location:252 → 313

Collagen; Collagen triple helix repeat (20 copies)