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Col5a2 Gene Detail
Summary
  • Symbol
    Col5a2
  • Name
    collagen, type V, alpha 2
  • Synonyms
    1110014L14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88458
    NCBI Gene: 12832
  • Gene Overview
    MyGene.info: COL5A2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:45374321-45503282 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      128962 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 23.69 cM, cytoband C1
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    COL5A2, collagen type V alpha 2 chain
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COL5A2, collagen type V alpha 2 chain
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EDSC, EDSCL2
  • Links
    NCBI Gene ID: 1290
    neXtProt AC: NX_P05997
    UniProt: P05997

  • Chr Location
    2q32.2; chr2:189031915-189225301 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col5a2 mouse models; 1 with human COL5A2 associations

Human Disease Mouse Models
      
IDs
View 1 model
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
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    9 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 mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.
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 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
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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 OTTMUSG00000021356 VEGA Gene Model | MGI Sequence Detail 128962 C57BL/6J ±  kb
    transcript OTTMUST00000050640 VEGA | MGI Sequence Detail 6625 Not Applicable  
    polypeptide OTTMUSP00000023677 VEGA | MGI Sequence Detail 1497 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1219 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 312
      Genomic 1
      cDNA 310
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-2072, MGI:1920990
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 24
      Diseases 1
      Gene Ontology 9
      Phenotypes 9
    • Earliest
      J:4067 Andrikopoulos K, et al., Localization of pro-alpha 2(V) collagen transcripts in the tissues of the developing mouse embryo. Dev Dyn. 1992 Oct;195(2):113-20
    • Latest
      J:255753 Lynch B, et al., How aging impacts skin biomechanics: a multiscale study in mice. Sci Rep. 2017 Oct 23;7(1):13750

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory