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Col18a1 Gene Detail
Summary
  • Symbol
    Col18a1
  • Name
    collagen, type XVIII, alpha 1
  • Synonyms
    endostatin
  • Feature Type
    protein coding gene
  • IDs
    MGI:88451
    NCBI Gene: 12822
  • Alliance
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:77052178-77166530 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM, cytoband B5-C1
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    822 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88451
protein coding gene Chr10:77052178-77166548 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017393
protein coding gene Chr10:77325527-77449226 (-)
A/J MGP_AJ_G0017370
protein coding gene Chr10:74658967-74776525 (-)
AKR/J MGP_AKRJ_G0017331
protein coding gene Chr10:76662480-76778817 (-)
BALB/cJ MGP_BALBcJ_G0017330
protein coding gene Chr10:74851671-74968155 (-)
C3H/HeJ MGP_C3HHeJ_G0017154
protein coding gene Chr10:76736905-76860108 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017788
protein coding gene Chr10:80036238-80166191 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015478
protein coding gene Chr10:71084907-71202271 (-)
CAST/EiJ MGP_CASTEiJ_G0016724
protein coding gene Chr10:77079135-77198801 (-)
CBA/J MGP_CBAJ_G0017126
protein coding gene Chr10:83166873-83297236 (-)
DBA/2J MGP_DBA2J_G0017231
protein coding gene Chr10:73947613-74063182 (-)
FVB/NJ MGP_FVBNJ_G0017223
protein coding gene Chr10:73106427-73231124 (-)
LP/J MGP_LPJ_G0017304
protein coding gene Chr10:77804210-77925723 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017252
protein coding gene Chr10:85210941-85335346 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017827
protein coding gene Chr10:76724075-76843239 (-)
PWK/PhJ MGP_PWKPhJ_G0016508
protein coding gene Chr10:73803270-73919245 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016291
protein coding gene Chr10:75967516-76087826 (-)
WSB/EiJ MGP_WSBEiJ_G0016787
protein coding gene Chr10:76701133-76820400 (-)



Homology
more
  • Human Ortholog
    COL18A1, collagen type XVIII alpha 1 chain
  • Vertebrate Orthologs
    7
  • Human Ortholog
    COL18A1, collagen type XVIII alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KNO, KNO1, KS
  • Links
    NCBI Gene ID: 80781
    neXtProt AC: NX_P39060
    UniProt: P39060

  • Chr Location
    21q22.3; chr21:45405137-45513720 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Col18a1 mouse models

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
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 4 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    60 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.
Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.
Gene Ontology
(GO)
Classifications
less
  • 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
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 12822 NCBI Gene Model | MGI Sequence Detail 114353 C57BL/6J ±  kb
    transcript NM_001109991 RefSeq | MGI Sequence Detail 5642 C57BL/6  
    polypeptide P39061 UniProt | EBI | MGI Sequence Detail 1774 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 375
      Genomic 20
      cDNA 346
      Primer pair 3
      Other 6

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-2058
    References
    more
    • Summaries
      All 139
      Developmental Gene Expression 39
      Diseases 3
      Gene Ontology 15
      Phenotypes 60
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:264116 Nagy N, et al., Collagen 18 and agrin are secreted by neural crest cells to remodel their microenvironment and regulate their migration during enteric nervous system development. Development. 2018 May 8;145(9)

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory