ZFIN Gene: col6a2

ZFIN ID: ZDB-GENE-070501-7

ZFIN ID: ZDB-GENE-070501-7

Gene Name:

collagen, type VI, alpha 2

Gene Symbol:

col6a2 Nomenclature History

Previous Name:

Gene Type:

protein_coding_gene

Location:

Chr: 11 Mapping Details/Browsers

Description:

Involved in axonogenesis; muscle fiber development; and muscle organ development. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including anterior segment eye; gut; integument; musculature system; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A2 (collagen type VI alpha 2 chain).

Genome Resources:

Alliance (1), Gene:567771 (1), Ensembl(GRCz11):ENSDARG00000061436 (2)

GENE EXPRESSION
All Expression Data:	12 figures from 4 publications
Directly Submitted Expression Data:	7 figures (17 images) from Thisse et al., 2004 [IMAGE:7156276]
Wild-type Stages, Structures:	Segmentation:20-25 somites (19.0h-22.0h) to Adult (90d-730d, breeding adult)
	cornea dermis epidermis gut lens myoseptum myotome pectoral fin pectoral fin musculature pharyngeal arch whole organism yolk syncytial layer
High Throughput Expression:	Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
sa15560	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa41880	Point Mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this)

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
MO1-col6a2	N/A	1

PHENOTYPE

Data:	6 figures from Ramanoudjame et al., 2015
Observed in:	axonogenesis eye integument vertical myoseptum motor neuron axon muscle mitochondrion muscle T-tubule muscle Z disc muscle cell nucleolus muscle cell nucleus muscle cell sarcoplasm myoseptum myotome compartment boundary skeletal muscle skeletal muscle myofibril somite myofibril thigmotaxis trunk vertical myoseptum whole organism

DISEASE ASSOCIATED WITH col6a2 HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Bethlem myopathy	Alliance	Bethlem myopathy 1	158810
Ullrich congenital muscular dystrophy	Alliance	Ullrich congenital muscular dystrophy 1	254090
		?Myosclerosis, congenital	255600

DISEASE ASSOCIATED WITH col6a2 VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	axonogenesis (more)
Cellular Component	collagen-containing extracellular matrix (more)

GO Terms (all 5)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	col6a2-201 (1)	5960	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab1-col6a2	polyclonal		Rabbit		Abgent	1

PLASMIDS

Addgene:col6a2_L (OZ593)

Addgene:col6a2_R (OZ594)

CONSTRUCTS WITH SEQUENCES FROM col6a2 No data available

MARKER RELATIONSHIPS

col6a2 Contained in:	[BAC] CH211-227N13, DKEY-287I12 (order this)
col6a2 Encodes:	[EST] IMAGE:7156276 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:XM_691072 (1)	4216 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:BX323597 (1)	177773 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:E7FCV8 (1)	1015 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 17)

ORTHOLOGY for col6a2 ( Chr: 11 )

CITATIONS (22)

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