About   Help   FAQ
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
    gene page
  • Transcription Start Sites
    13 TSS
  • Candidate for QTL
    3 QTL
Location &
Maps
more
  • Sequence Map
    Chr10:76888013-77002351 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM, cytoband B5-C1
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3332 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_88451
 protein coding gene Chr10:76888012-77002382 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL18A1, collagen type XVIII alpha 1 chain
  • Synonyms
    GLCC, KNO, KNO1, KS
  • Links
    NCBI Gene ID: 80781
    neXtProt AC: NX_P39060
    UniProt: P39060

  • Chr Location
    21q22.3; chr21:45405165-45513720 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col18a1 mouse models; 1 with human COL18A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    48 phenotypes from 4 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    80 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.
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
    28
  • GO References
    15
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
    1411
  • Tissues
    337
  • cDNA Data
    345
  • Literature Summary
    51
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12822 NCBI Gene Model | MGI Sequence Detail 114339 C57BL/6J ±  kb
    transcript NM_001109991 RefSeq | MGI Sequence Detail 5608 ZRU/MplStud  
    polypeptide P39061 UniProt | EBI | MGI Sequence Detail 1774 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 379
      Genomic 20
      cDNA 346
      Primer pair 7
      Other 6

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-2058
    References
    more
    • Summaries
      All 171
      Developmental Gene Expression 51
      Diseases 3
      Gene Ontology 15
      Phenotypes 80
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:358339 Khoshneviszadeh M, et al., Microvascular damage, neuroinflammation and extracellular matrix remodeling in Col18a1 knockout mice as a model for early cerebral small vessel disease. Matrix Biol. 2024 Feb 20;
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory