Col6a2 collagen, type VI, alpha 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col6a2provided by MGI
Official Full Name: collagen, type VI, alpha 2provided by MGI
Primary source: MGI:MGI:88460
See related: Ensembl:ENSMUSG00000020241 AllianceGenome:MGI:88460
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: Col6a-2
Summary: Predicted to enable collagen binding activity. Acts upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including cardiovascular system; central nervous system; extraembryonic component; gut; and reproductive system. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Orthologous to human COL6A2 (collagen type VI alpha 2 chain). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in subcutaneous fat pad adult (RPKM 277.0), ovary adult (RPKM 148.2) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.32 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (76431590..76459464, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (76595756..76623630, complement)

Chromosome 10 - NC_000076.7 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 VIalpha2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFalpha signaling.
Title: Collagen VIα2 chain deficiency causes trabecular bone loss by potentially promoting osteoclast differentiation through enhanced TNFα signaling.
gamma-sarcoglycan-null/Col6a2Deltaex5 (Col6a2 deficient) mice exhibit reduced muscle pathology compared with gamma-sarcoglycan-null mice. Specifically, fewer muscle fibers are degenerating, fiber size varies less. Surprisingly, in spite of this reduction in muscle pathology, muscle function is not significantly improved.
Title: Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse.

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Variation

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Alleles

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

Chemically induced (ENU) (1)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

X65582 (e-PCR)
- UniSTS:180059

Col6a2 (e-PCR), detects polymorphism
- UniSTS:259060

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables collagen binding	ISO Inferred from Sequence Orthology more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in response to glucose	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
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 matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular space	HDA more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: collagen alpha-2(VI) chain

Names: procollagen, type VI, 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_001347207.1 → NP_001334136.1 collagen alpha-2(VI) chain isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC153892, AK042826, AK132540, AW487891, CB249309, CD804788, CK619862, CN670932

Consensus CDS

CCDS83715.1

UniProtKB/TrEMBL

D3Z7D5

Related

ENSMUSP00000101053.2, ENSMUST00000105413.8
NM_146007.2 → NP_666119.1 collagen alpha-2(VI) chain isoform 1 precursor

See identical proteins and their annotated locations for NP_666119.1

Status: VALIDATED

Source sequence(s)

AK128938, CJ159755, CJ313132, X65582

Consensus CDS

CCDS23951.1

UniProtKB/Swiss-Prot

Q02788, Q05505, Q8C972, Q8K229

Related

ENSMUSP00000001181.7, ENSMUST00000001181.13

Conserved Domains (3) summary

pfam01391
Location:472 → 529

Collagen; Collagen triple helix repeat (20 copies)

cd01480
Location:627 → 818

vWA_collagen_alpha_1-VI-type; VWA_collagen alpha(VI) type: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...

pfam00092
Location:848 → 1022

VWA; von Willebrand factor type A domain