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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(5)
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

HCOP human homology predictions: COL11A2
Gene Tree: Col11a2

Human
homologs
COL11A2, collagen, type XI, alpha 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1302
neXtProt AC: NX_P13942

Human Synonyms: DFNA13, DFNB53, FBCG2, HKE5, PARP, STL3

Human Chr (Location): 6p21.3; chr6:33162692-33193152 (-)  GRCh38.p2

Disease Associations: (6) Diseases Associated with Human COL11A2

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Col11a2 (3)    Mutations Annotated to Human Diseases (1)   
Interactions
Col11a2 interacts with 139 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (24 records)
Data Summary: Results (84)    Tissues (32)    Images (25)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 15
Northern blot 12
RT-PCR 57
cDNA source data(43)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN col11a2    NEW 
Molecular
reagents
All nucleic(67) Genomic(15) cDNA(46) 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 Phenotyping Consortium Status Col11a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022512 VEGA Gene Model | MGI Sequence Detail 27249 C57BL/6J ±  kb
transcript OTTMUST00000053896 VEGA | MGI Sequence Detail 6048 Not Applicable 
polypeptide OTTMUSP00000025657 VEGA | MGI Sequence Detail 1650 Not Applicable 

For the selected sequences
All sequences(121) RefSeq(78) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(452 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
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:3883 Stubbs L, et al., The alpha 2(XI) collagen gene lies within 8 kb of Pb in the proximal portion of the murine major histocompatibility complex. Mamm Genome. 1993;4(2):95-103
(Latest) J:204883 Feenstra JM, et al., Detection of genes regulated by Lmx1b during limb dorsalization. Dev Growth Differ. 2012 May;54(4):451-62
All references(60)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-2054

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory