Col11a2
Gene Detail

Symbol Name ID

Col11a2 collagen, type XI, alpha 2 MGI:88447

Feature Type

protein coding gene

Genetic Map

Chromosome 17

17.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)

Sequence Map

Chr17:34039437-34066685 bp, + strand From VEGA annotation of GRCm38   27249 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:22547  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Col11a2

Human homologs

Human Homolog		COL11A2, collagen, type XI, alpha 2
NCBI Gene ID		1302
neXtProt AC		NX_P13942
Human Synonyms		DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3
Human Chr (Location)		6p21.3; chr6:33130469-33160245 (-)  GRCh37.p10
Disease Associations		(6) Diseases Associated with Human COL11A2

Alleles and phenotypes

All alleles(3) : Targeted(2) Gene trapped(1)
 

Homozygous mutant animals exhibit reduced body size, short snout, a slightly bulged forehead, deafness, and disorganization of chondrocytes in the growth plate of long bones.

 
Human Diseases Modeled Using Mouse Col11a2 (3)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	cartilage development, chondrocyte differentiation, ...
Component	collagen, collagen type XI, ...
Function	extracellular matrix structural constituent, metal ion binding

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (22 records)
Data Summary: Results (75)    Tissues (27)    Images (16)
Theiler Stages: 9, 10, 16, 18, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	6
Northern blot	12
RT-PCR	57

cDNA source data(43)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(66) Genomic(15) cDNA(45) Primer pair(2) Other(4)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000022512 (Evidence)
Ensembl Gene Model	ENSMUSG00000024330 (Evidence)
Entrez Gene	12815 (Evidence)
UniGene	20230
DFCI	TC1580463, TC1689139
DoTS	DT.101181869, DT.101364782, DT.490296
NIA Mouse Gene Index	U017842
Consensus CDS Project	CCDS28640.1
International Mouse Knockout Project Status	Col11a2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022512	VEGA Gene Model | MGI Sequence Detail	27249	C57BL/6J
transcript	OTTMUST00000053896	VEGA | MGI Sequence Detail	6048	Not Applicable
polypeptide	OTTMUSP00000025657	VEGA | MGI Sequence Detail	1650	Not Applicable

All sequences(43) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(218 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008160	Collagen triple helix repeat
InterPro	IPR008985	Concanavalin A-like lectin/glucanases superfamily
InterPro	IPR013320	Concanavalin A-like lectin/glucanase, subgroup
InterPro	IPR000885	Fibrillar collagen, C-terminal
InterPro	IPR001791	Laminin G domain
Protein Ontology	PR:000005695	collagen alpha-2(XI) chain

References

(Earliest) J:17944 Hanson IM, et al., Colinearity of novel genes in the class II regions of the MHC in mouse and human. Immunogenetics. 1991;34(1):5-11
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(64)

Other accession IDs

MGD-MRK-2054