Col5a2 collagen, type V, alpha 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col5a2provided by MGI
Official Full Name: collagen, type V, alpha 2provided by MGI
Primary source: MGI:MGI:88458
See related: Ensembl:ENSMUSG00000026042 AllianceGenome:MGI:88458
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1110014L14Rik
Summary: This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
Expression: Biased expression in limb E14.5 (RPKM 56.0), bladder adult (RPKM 29.0) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C1.1; 1 23.69 cM

Exon count:: 54

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (45413491..45542442, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (45374331..45503282, complement)

Chromosome 1 - NC_000067.7 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?

Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms.
Title: Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.
Mice with null alleles for the Col5a2. Col5a2(-/-) homozygosity is embryonic lethal at approximately 12 days post conception.
Title: Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
analysis of processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer
Title: Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1Mit236 (e-PCR), detects polymorphism
- UniSTS:116250

AW558340 (e-PCR)
- UniSTS:207155

35.MMHAP59FRD11.seq (e-PCR)
- UniSTS:124149

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables extracellular matrix structural constituent	IEA Inferred from Electronic Annotation more info
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 metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	ISO Inferred from Sequence Orthology more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in eye morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endodermal cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IBA Inferred from Biological aspect of Ancestor more info
involved_in skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of collagen trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen type V trimer	IBA Inferred from Biological aspect of Ancestor more info
part_of collagen type V trimer	ISO Inferred from Sequence Orthology more info
part_of collagen type XI trimer	NAS Non-traceable Author Statement 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 collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation 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(V) chain

Names: procollagen, type V, 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_007737.2 → NP_031763.2 collagen alpha-2(V) chain preproprotein

See identical proteins and their annotated locations for NP_031763.2

Status: REVIEWED

Source sequence(s)

AK003709, AK132413, AK139130, AK147328

Consensus CDS

CCDS35555.1

UniProtKB/Swiss-Prot

Q3TVR2, Q3U962, Q3UHK7, Q3UTT4, Q3V1J6, Q61431, Q7TMS0, Q80VS8

Related

ENSMUSP00000083620.5, ENSMUST00000086430.5

Conserved Domains (3) summary

pfam01391
Location:493 → 551

Collagen; Collagen triple helix repeat (20 copies)

smart00214
Location:40 → 95

VWC; von Willebrand factor (vWF) type C domain

pfam01410
Location:1265 → 1496

COLFI; Fibrillar collagen C-terminal domain

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_000067.7 Reference GRCm39 C57BL/6J

Range

45413491..45542442 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172972.1: Suppressed sequence

Description

NM_172972.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.