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Col11a2 Gene Detail
Summary
  • Symbol
    Col11a2
  • Name
    collagen, type XI, alpha 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88447
    NCBI Gene: 12815
  • Gene Overview
    MyGene.info: COL11A2
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:34039437-34066685 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 17.98 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88447
protein coding gene Chr17:34038506-34066685 (.)
129S1/SvImJ MGP_129S1SvImJ_G0023555
protein coding gene Chr17:34008876-34036079 (+)
A/J MGP_AJ_G0023519
protein coding gene Chr17:32831727-32859150 (+)
AKR/J MGP_AKRJ_G0023482
protein coding gene Chr17:33245844-33273264 (+)
BALB/cJ MGP_BALBcJ_G0023521
protein coding gene Chr17:33004528-33031754 (+)
C3H/HeJ MGP_C3HHeJ_G0023282
protein coding gene Chr17:33600317-33627742 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023962
protein coding gene Chr17:35310355-35337562 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021440
protein coding gene Chr17:30369189-30397615 (+)
CAST/EiJ MGP_CASTEiJ_G0022781
protein coding gene Chr17:33700618-33728008 (+)
CBA/J MGP_CBAJ_G0023259
protein coding gene Chr17:36708416-36737277 (+)
DBA/2J MGP_DBA2J_G0023390
protein coding gene Chr17:32212635-32243160 (+)
FVB/NJ MGP_FVBNJ_G0023354
protein coding gene Chr17:32081827-32109913 (+)
LP/J MGP_LPJ_G0023465
protein coding gene Chr17:34291768-34318989 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023377
protein coding gene Chr17:35755142-35784368 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024004
protein coding gene Chr17:33587476-33614742 (+)
PWK/PhJ MGP_PWKPhJ_G0022531
protein coding gene Chr17:31142127-31169600 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022346
protein coding gene Chr17:31538860-31566188 (+)
WSB/EiJ MGP_WSBEiJ_G0022842
protein coding gene Chr17:33603371-33631100 (+)



Homology
more
  • Human Ortholog
    COL11A2, collagen type XI alpha 2 chain
  • Vertebrate Orthologs
    7
  • Human Ortholog
    COL11A2, collagen type XI alpha 2 chain
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
  • Links
    NCBI Gene ID: 1302
    neXtProt AC: NX_P13942
    UniProt: P13942

  • Chr Location
    6p21.32; chr6:33162692-33193009 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Col11a2 mouse models; 5 with human COL11A2 associations

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
IDs
View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024330 Ensembl Gene Model | MGI Sequence Detail 27249 C57BL/6J ±  kb
    transcript ENSMUST00000114255 Ensembl | MGI Sequence Detail 5722 Not Applicable  
    polypeptide ENSMUSP00000109893 Ensembl | MGI Sequence Detail 1689 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR008160 Collagen triple helix repeat
      IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
      IPR000885 Fibrillar collagen, C-terminal
      IPR001791 Laminin G domain
    Molecular
    Reagents
    less
    • All nucleic 69
      Genomic 15
      cDNA 48
      Primer pair 2
      Other 4

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-2054
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 26
      Diseases 1
      Gene Ontology 10
      Phenotypes 10
    • 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:265607 Naba A, et al., Quantitative proteomic profiling of the extracellular matrix of pancreatic islets during the angiogenic switch and insulinoma progression. Sci Rep. 2017 Jan 10;7:40495

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory