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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:34258411-34285659 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88447
 protein coding gene Chr17:34257462-34285659 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL11A2, collagen type XI alpha 2 chain
  • Synonyms
    DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
  • Links
    NCBI Gene ID: 1302
    neXtProt AC: NX_P13942
    UniProt: P13942

  • Chr Location
    6p21.32; chr6:33162681-33193519 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Col11a2 mouse models; 7 with human COL11A2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
 View 1 model
      
IDs
IDs
IDs
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
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 genetic backgrounds
    12 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    27
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    858
  • Tissues
    67
  • cDNA Data
    47
  • Literature Summary
    28
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024330 Ensembl Gene Model | MGI Sequence Detail 27249 C57BL/6J ±  kb
    transcript ENSMUST00000131134 Ensembl | MGI Sequence Detail 5394 Not Applicable  
    polypeptide ENSMUSP00000122082 Ensembl | MGI Sequence Detail 1736 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 74
      Genomic 15
      cDNA 50
      Primer pair 3
      Other 6

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-2054
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 28
      Diseases 1
      Gene Ontology 11
      Phenotypes 12
    • 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:346374 Ushiki A, et al., Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell Rep. 2024 Mar 8;43(3):113907
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory