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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:45413491-45542442 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 23.69 cM, cytoband C1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4201 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88458
 protein coding gene Chr1:45413481-45542442 (-)
129S1/SvImJ MGP_129S1SvImJ_G0015993
 protein coding gene Chr1:44410648-44556185 (-)
A/J MGP_AJ_G0015977
 protein coding gene Chr1:43053999-43183662 (-)
AKR/J MGP_AKRJ_G0015932
 protein coding gene Chr1:43671024-43803274 (-)
BALB/cJ MGP_BALBcJ_G0015931
 protein coding gene Chr1:42681883-42812813 (-)
C3H/HeJ MGP_C3HHeJ_G0015764
 protein coding gene Chr1:44072480-44207510 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016384
 protein coding gene Chr1:46259870-46404834 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014106
 protein coding gene Chr1:39763418-39901201 (-)
CAST/EiJ MGP_CASTEiJ_G0015345
 protein coding gene Chr1:43976250-44113172 (-)
CBA/J MGP_CBAJ_G0015736
 protein coding gene Chr1:47569692-47734104 (-)
DBA/2J MGP_DBA2J_G0015837
 protein coding gene Chr1:42350208-42478809 (-)
FVB/NJ MGP_FVBNJ_G0015839
 protein coding gene Chr1:41791531-41921077 (-)
LP/J MGP_LPJ_G0015907
 protein coding gene Chr1:44763931-44896971 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015859
 protein coding gene Chr1:49667020-49849433 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016431
 protein coding gene Chr1:43867278-44008985 (-)
PWK/PhJ MGP_PWKPhJ_G0015128
 protein coding gene Chr1:42143280-42274873 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014910
 protein coding gene Chr1:43896417-44028650 (-)
WSB/EiJ MGP_WSBEiJ_G0015407
 protein coding gene Chr1:43855476-43987581 (-)



Homology
more
  • Human Ortholog
    COL5A2, collagen type V alpha 2 chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL5A2, collagen type V alpha 2 chain
  • Synonyms
    EDSC, EDSCL2
  • Links
    NCBI Gene ID: 1290
    neXtProt AC: NX_P05997
    UniProt: P05997

  • Chr Location
    2q32.2; chr2:189031898-189441111 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col5a2 mouse models; 2 with human COL5A2 associations

Human Disease Mouse Models
      
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
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 3 genetic backgrounds
    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
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 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
less
  • All GO Annotations
    29
  • GO References
    13
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
    864
  • Tissues
    124
  • cDNA Data
    309
  • Literature Summary
    29
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12832 NCBI Gene Model | MGI Sequence Detail 128952 C57BL/6J ±  kb
    transcript NM_007737 RefSeq | MGI Sequence Detail 6615 C57BL/6  
    polypeptide Q3U962 UniProt | EBI | MGI Sequence Detail 1497 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 315
      Genomic 1
      cDNA 310
      Primer pair 3
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-2072, MGI:1920990
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 29
      Diseases 1
      Gene Ontology 13
      Phenotypes 10
    • 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:335095 Lipp SN, et al., FOXD1 is required for 3D patterning of the kidney interstitial matrix. Dev Dyn. 2023 Apr;252(4):463-482
    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)
    Citing These Resources
    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