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

Sequence Ontology ID :

SO:0000704

Previous Name:

Location:

Chr: 11 Mapping Details/Browsers

Nomenclature History

AUTOMATED DESCRIPTION

Involved in axonogenesis, muscle fiber development, and muscle organ development; predicted to localize to the extracellular matrix and extracellular space; orthologous to human COL6A2 (collagen type ...

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

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)

Targeting reagents:

MO1-col6a2 (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	OMIM Term	OMIM Phenotype ID
Bethlem myopathy	Bethlem myopathy 1	158810
Ullrich congenital muscular dystrophy	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)

GO Terms (all 3)

PROTEIN FAMILIES, DOMAINS AND SITES
InterPro:IPR002035 (1) InterPro:IPR008160 (1) InterPro:IPR036465 (1)	PROSITE:PS50234 (1)	Pfam:PF00092 (1) Pfam:PF01391 (1)

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

GENE PRODUCT DESCRIPTION No description available

INTERACTIONS AND PATHWAYS

ANTIBODIES

Ab1-col6a2 (1)

PLASMIDS

Addgene

CONSTRUCTS WITH SEQUENCES FROM col6a2 No data available

MARKER RELATIONSHIPS

col6a2Contained in:	[BAC] CH211-227N13 (order this), DKEY-287I12 (order this)
col6a2Encodes:	[EST] IMAGE:7156276 (1) (order this)

SEQUENCE INFORMATION

Type	Accession #	Length (bp/aa)	Analysis
RNA	RefSeq:XM_691072 (1)	4216bp	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:BX323597 (1)	177773bp	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:E7FCV8 (1)	1015aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast
Sequence Clusters	UniGene:91109 (1)

Sequence Information (all 18)

OTHER col6a2 GENE PAGES

Alliance (1)

Gene:567771 (1)

VEGA:OTTDARG00000027665 (1)

VEGA:OTTDARG00000035468 (1)

Ensembl(GRCz11):ENSDARG00000061436 (2)

ORTHOLOGY for col6a2 (Chr: 11)

CITATIONS (18)

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