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Aliases for COL18A1 Gene

Aliases for COL18A1 Gene

  • Collagen Type XVIII Alpha 1 2 3
  • Collagen, Type XVIII, Alpha 1 2 3 5
  • Endostatin 2 3
  • Multi-Functional Protein MFP 3
  • Knobloch Syndrome, Type 1 2
  • Antiangiogenic Agent 3
  • KNO1 3
  • KNO 3
  • KS 3

External Ids for COL18A1 Gene

Previous HGNC Symbols for COL18A1 Gene

  • KNO

Previous GeneCards Identifiers for COL18A1 Gene

  • GC21P043334
  • GC21P045681
  • GC21P045649
  • GC21P046825
  • GC21P032201

Summaries for COL18A1 Gene

Entrez Gene Summary for COL18A1 Gene

  • This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for COL18A1 Gene

COL18A1 (Collagen Type XVIII Alpha 1) is a Protein Coding gene. Diseases associated with COL18A1 include Knobloch Syndrome, Type 1 and Knobloch Syndrome. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. GO annotations related to this gene include identical protein binding and structural molecule activity. An important paralog of this gene is COL15A1.

UniProtKB/Swiss-Prot for COL18A1 Gene

  • COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.

  • Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.

Gene Wiki entry for COL18A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL18A1 Gene

Genomics for COL18A1 Gene

Regulatory Elements for COL18A1 Gene

Enhancers for COL18A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COL18A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL18A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL18A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL18A1 Gene

45,405,137 bp from pter
45,513,720 bp from pter
108,584 bases
Plus strand

Genomic View for COL18A1 Gene

Genes around COL18A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL18A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL18A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL18A1 Gene

Proteins for COL18A1 Gene

  • Protein details for COL18A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(XVIII) chain
    Protein Accession:
    Secondary Accessions:
    • A8MVI4
    • Q58EX6
    • Q6RZ39
    • Q6RZ40
    • Q6RZ41
    • Q8N4S4
    • Q8WXI5
    • Q96T70
    • Q9UK38
    • Q9Y6Q7
    • Q9Y6Q8

    Protein attributes for COL18A1 Gene

    1754 amino acids
    Molecular mass:
    178188 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for COL18A1 Gene

    Alternative splice isoforms for COL18A1 Gene


neXtProt entry for COL18A1 Gene

Proteomics data for COL18A1 Gene at MOPED

Post-translational modifications for COL18A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated.
  • Glycosylation at Asn 68, Asn 129, Asn 164, Asn 691, Thr 1292, Ser 1304, and Thr 1332
  • Modification sites at PhosphoSitePlus

Other Protein References for COL18A1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL18A1

No data available for DME Specific Peptides for COL18A1 Gene

Domains & Families for COL18A1 Gene

Gene Families for COL18A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 FZ (frizzled) domain.
  • Belongs to the multiplexin collagen family.
  • Contains 1 FZ (frizzled) domain.
  • Contains 1 laminin G-like domain.
  • Belongs to the multiplexin collagen family.
genes like me logo Genes that share domains with COL18A1: view

Function for COL18A1 Gene

Molecular function for COL18A1 Gene

GENATLAS Biochemistry:
collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain
UniProtKB/Swiss-Prot Function:
COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
UniProtKB/Swiss-Prot Function:
Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling.
genes like me logo Genes that share phenotypes with COL18A1: view

Human Phenotype Ontology for COL18A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL18A1 Gene

MGI Knock Outs for COL18A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for COL18A1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for COL18A1 Gene

Localization for COL18A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL18A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for COL18A1 Gene COMPARTMENTS Subcellular localization image for COL18A1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
golgi apparatus 2
vacuole 2
cytoskeleton 1
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with COL18A1: view

Pathways & Interactions for COL18A1 Gene

genes like me logo Genes that share pathways with COL18A1: view

SIGNOR curated interactions for COL18A1 Gene


Gene Ontology (GO) - Biological Process for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007601 visual perception TAS 10942434
GO:0009887 organ morphogenesis TAS 10942434
GO:0022617 extracellular matrix disassembly TAS --
GO:0030335 positive regulation of cell migration IEA --
genes like me logo Genes that share ontologies with COL18A1: view

Drugs & Compounds for COL18A1 Gene

No Compound Related Data Available

Transcripts for COL18A1 Gene

Unigene Clusters for COL18A1 Gene

Collagen, type XVIII, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL18A1 Gene

No ASD Table

Relevant External Links for COL18A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL18A1 Gene

mRNA expression in normal human tissues for COL18A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL18A1 Gene

This gene is overexpressed in Artery - Tibial (x5.0), Artery - Coronary (x4.6), and Liver (x4.5).

Protein differential expression in normal tissues from HIPED for COL18A1 Gene

This gene is overexpressed in Amniocyte (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL18A1 Gene

SOURCE GeneReport for Unigene cluster for COL18A1 Gene Hs.517356

mRNA Expression by UniProt/SwissProt for COL18A1 Gene

Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney.
genes like me logo Genes that share expression patterns with COL18A1: view

Protein tissue co-expression partners for COL18A1 Gene

- Elite partner

Primer Products

Orthologs for COL18A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL18A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Col18a1 35
  • 75.59 (n)
  • 75.49 (a)
Col18a1 16
Col18a1 36
  • 70 (a)
(Pan troglodytes)
Mammalia COL18A1 35
  • 97.45 (n)
  • 97.53 (a)
COL18A1 36
  • 83 (a)
(Rattus norvegicus)
Mammalia Col18a1 35
  • 77.36 (n)
  • 78.94 (a)
(Bos Taurus)
Mammalia COL18A1 36
  • 68 (a)
(Canis familiaris)
Mammalia COL18A1 36
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia COL18A1 36
  • 65 (a)
(Gallus gallus)
Aves COL18A1 35
  • 67.21 (n)
  • 68.86 (a)
COL18A1 36
  • 57 (a)
(Anolis carolinensis)
Reptilia COL18A1 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia col18a1 35
  • 59.25 (n)
  • 63.48 (a)
(Danio rerio)
Actinopterygii -- 35
col18a1 36
  • 39 (a)
COL18A1 (2 of 2) 36
  • 41 (a)
fruit fly
(Drosophila melanogaster)
Insecta mp 36
  • 29 (a)
(Caenorhabditis elegans)
Secernentea cle-1 37
  • 33 (a)
cle-1 36
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
Species with no ortholog for COL18A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL18A1 Gene

Gene Tree for COL18A1 (if available)
Gene Tree for COL18A1 (if available)

Paralogs for COL18A1 Gene

Paralogs for COL18A1 Gene

(1) SIMAP similar genes for COL18A1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with COL18A1: view

Variants for COL18A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for COL18A1 Gene

There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals.

Sequence variations from dbSNP and Humsavar for COL18A1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_012709 -
rs61735029 - 45,455,676(+) GCCCC(A/T)GGGGC intron-variant, reference, missense
rs114139997 - 45,455,861(+) GTGTC(A/G)GAGCC intron-variant, reference, missense
rs62000962 - 45,490,296(+) ATGGA(A/G)TCCCC reference, missense
rs79980197 - 45,491,274(+) CCCCC(C/G/T)CGGAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL18A1 Gene

Variant ID Type Subtype PubMed ID
dgv4785n71 CNV Loss 21882294
nsv914009 CNV Loss 21882294
dgv4788n71 CNV Loss 21882294
dgv537n27 CNV Gain 19166990
nsv470909 CNV Gain 18288195
nsv520123 CNV Gain 19592680
nsv914027 CNV Loss 21882294
nsv914029 CNV Loss 21882294
nsv914030 CNV Loss 21882294
dgv4791n71 CNV Loss 21882294
dgv4792n71 CNV Loss 21882294
dgv4793n71 CNV Loss 21882294
dgv4794n71 CNV Loss 21882294
nsv516407 CNV Loss 19592680
esv1007573 CNV Insertion 20482838
nsv914048 CNV Loss 21882294
nsv834111 CNV Loss 17160897
dgv4795n71 CNV Loss 21882294
esv990822 CNV Insertion 20482838
esv2570683 CNV Deletion 19546169
esv2723751 CNV Deletion 23290073
esv2723752 CNV Deletion 23290073
esv2723753 CNV Deletion 23290073
esv2667462 CNV Deletion 23128226
esv2723754 CNV Deletion 23290073
esv6137 CNV Loss 19470904
esv2723755 CNV Deletion 23290073
esv2723756 CNV Deletion 23290073
esv2723757 CNV Deletion 23290073
dgv4796n71 CNV Loss 21882294
dgv763e201 CNV Deletion 23290073
esv2723760 CNV Deletion 23290073
esv2723762 CNV Deletion 23290073
dgv538n27 CNV Loss 19166990
dgv4797n71 CNV Loss 21882294
dgv4798n71 CNV Loss 21882294
nsv914060 CNV Loss 21882294
esv2723763 CNV Deletion 23290073
esv1007584 CNV Insertion 20482838
esv1278020 CNV Insertion 17803354
nsv914061 CNV Gain 21882294
dgv4799n71 CNV Loss 21882294
esv2723764 CNV Deletion 23290073
esv2660971 CNV Deletion 23128226
esv2723765 CNV Deletion 23290073
dgv764e201 CNV Deletion 23290073
esv2723767 CNV Deletion 23290073
dgv4800n71 CNV Loss 21882294
nsv914066 CNV Gain 21882294
nsv459308 CNV Loss 19166990
dgv4801n71 CNV Loss 21882294
esv2438585 CNV Insertion 19546169
esv2723769 CNV Deletion 23290073
esv2723770 CNV Deletion 23290073
esv2723771 CNV Deletion 23290073
esv2723773 CNV Deletion 23290073
esv2664467 CNV Deletion 23128226
esv2723774 CNV Deletion 23290073
esv2723775 CNV Deletion 23290073
esv2723776 CNV Deletion 23290073
nsv834112 CNV Gain 17160897
nsv914071 CNV Loss 21882294
dgv4802n71 CNV Loss 21882294
dgv765e201 CNV Deletion 23290073
esv2723778 CNV Deletion 23290073
dgv4803n71 CNV Loss 21882294
esv2723780 CNV Deletion 23290073
esv2723781 CNV Deletion 23290073
esv2723782 CNV Deletion 23290073
nsv187181 CNV Loss 16902084
esv2723784 CNV Deletion 23290073
esv2723785 CNV Deletion 23290073
esv2723786 CNV Deletion 23290073
esv2723787 CNV Deletion 23290073

Variation tolerance for COL18A1 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.32; 97.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL18A1 Gene

Human Gene Mutation Database (HGMD)

Disorders for COL18A1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for COL18A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
knobloch syndrome, type 1
  • encephalocele
knobloch syndrome
  • myopia retinal detachment encephalocele
occipital encephalocele
  • bifid cranium
alveolar capillary dysplasia with misalignment of pulmonary veins
  • persistent fetal circulation syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Knobloch syndrome 1 (KNO1) [MIM:267750]: A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. {ECO:0000269 PubMed:10942434, ECO:0000269 PubMed:23667181}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL18A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COL18A1: view

No data available for Genatlas for COL18A1 Gene

Publications for COL18A1 Gene

  1. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure. (PMID: 10942434) Sertie A.L. … Passos-Bueno M.R. (Hum. Mol. Genet. 2000) 2 3 4 23 67
  2. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PMID: 17546652) Keren B. … Verloes A. (Am. J. Med. Genet. A 2007) 2 3 23
  3. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. (PMID: 8188291) Oh S.P. … Olsen B.R. (Genomics 1994) 2 3 23
  4. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. (PMID: 19390655) Suzuki O. … Passos-Bueno M.R. (Mol. Vis. 2009) 3 23
  5. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). (PMID: 19961619) Castro-Giner F. … de Cid R. (BMC Med. Genet. 2009) 3 23

Products for COL18A1 Gene

Sources for COL18A1 Gene