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... See more...

Aliases for COL18A1 Gene

Aliases for COL18A1 Gene

  • Collagen Type XVIII Alpha 1 Chain 2 3 5
  • Collagen, Type XVIII, Alpha 1 2 3
  • Collagen Alpha-1(XVIII) Chain 3 4
  • Endostatin 2 3
  • KNO1 2 3
  • KS 2 3
  • Collagen Alpha-1(XVIII) Chain Isoform 1 Preproprotein 3
  • Multi-Functional Protein MFP 3
  • Knobloch Syndrome, Type 1 2
  • Antiangiogenic Agent 3
  • COL18A1 5
  • GLCC 3
  • KNO 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 Chain) is a Protein Coding gene. Diseases associated with COL18A1 include Knobloch Syndrome 1 and Glaucoma, Primary Closed-Angle. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (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 Summary for COL18A1 Gene

  • Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
  • [Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.
  • Endostatin: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123).

Gene Wiki entry for COL18A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL18A1 Gene

Genomics for COL18A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COL18A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL18A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL18A1

Top Transcription factor binding sites by QIAGEN in the COL18A1 gene promoter:
  • ATF
  • NF-kappaB
  • NF-kappaB1
  • p53
  • STAT3

Genomic Locations for COL18A1 Gene

Genomic Locations for COL18A1 Gene
chr21:45,405,165-45,513,720
(GRCh38/hg38)
Size:
108,556 bases
Orientation:
Plus strand
chr21:46,825,052-46,933,634
(GRCh37/hg19)
Size:
108,583 bases
Orientation:
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:
    P39060-COIA1_HUMAN
    Recommended name:
    Collagen alpha-1(XVIII) chain
    Protein Accession:
    P39060
    Secondary Accessions:
    • A8MVI4
    • Q58EX6
    • Q6RZ39
    • Q6RZ40
    • Q6RZ41
    • Q8N4S4
    • Q8WXI5
    • Q96T70
    • Q9UK38
    • Q9Y6Q7
    • Q9Y6Q8

    Protein attributes for COL18A1 Gene

    Size:
    1754 amino acids
    Molecular mass:
    178188 Da
    Quaternary structure:
    • Non-collagenous domain 1 forms homotrimers. Endostatin is monomeric (PubMed:11257123). Recombinant non-collagenous domain 1 has stronger affinity to NID1, HSPG2 and laminin-1:NID1 complex and lower affinity to FBLN1 and FBLN2 than endostatin. Endostatin interacts with KDR/VEGFR2. Endostatin interacts with the ITGA5:ITGB1 complex (By similarity).
    Miscellaneous:
    • [Isoform 1]: Produced by alternative promoter usage.
    • [Isoform 2]: Produced by alternative splicing of isoform 1.
    • [Isoform 3]: Produced by alternative promoter usage.

    Three dimensional structures from OCA and Proteopedia for COL18A1 Gene

    Alternative splice isoforms for COL18A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL18A1 Gene

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.
  • Circulating endostatins are found as sialoglycoprotein and asialoglycoprotein structures.
  • Undergoes proteolytic processing by cathepsin-L and elastase-like proteases to generate both NC1 trimers and endostatin monomers (PubMed:10626789). In vitro, several proteolytic cleavage sites in the non-collagenous domain 1 hinge region generating different endostatin-like peptides are reported (By similarity).
  • Glycosylation at Asn68, Asn129, Asn164, Asn926, Thr1527, Ser1539, and Thr1567
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for COL18A1 Gene

No data available for DME Specific Peptides for COL18A1 Gene

Domains & Families for COL18A1 Gene

Gene Families for COL18A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL18A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Thrombospondin, N-terminal
  • Laminin G
  • Collagenase NC10 and endostatin
ProtoNet:

Suggested Antigen Peptide Sequences for COL18A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen alpha-1(XVIII) chain (COIA1_HUMAN)
  • Collagen, type XVIII, alpha 1, isoform CRA_d (D3DSM4_HUMAN)
  • Collagen, type XVIII, alpha 1, isoform CRA_b (D3DSM5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P39060

UniProtKB/Swiss-Prot:

COIA1_HUMAN :
  • Belongs to the multiplexin collagen family.
Family:
  • 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

UniProtKB/Swiss-Prot Function:
Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube.
UniProtKB/Swiss-Prot Function:
[Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling.
UniProtKB/Swiss-Prot Function:
Endostatin: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123).
GENATLAS Biochemistry:
collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain

Phenotypes From GWAS Catalog for COL18A1 Gene

Gene Ontology (GO) - Molecular Function for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IEA --
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL18A1: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL18A1

No data available for Enzyme Numbers (IUBMB) , 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. Secreted, extracellular space, extracellular matrix, basement membrane.
[Non-collagenous domain 1]: Secreted, extracellular space, extracellular matrix, basement membrane. Secreted.
[Endostatin]: Secreted. Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL18A1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005581 collagen trimer TAS,IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL18A1: view

Pathways & Interactions for COL18A1 Gene

PathCards logo

SuperPathways for COL18A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Degradation of the extracellular matrix
5 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with COL18A1: view

Pathways by source for COL18A1 Gene

1 KEGG pathway for COL18A1 Gene
15 Qiagen pathways for COL18A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA,IBA 21873635
GO:0001886 endothelial cell morphogenesis IEA,IBA 21873635
GO:0007155 cell adhesion IEA --
GO:0007601 visual perception TAS 10942434
GO:0008284 positive regulation of cell proliferation IEA --
genes like me logo Genes that share ontologies with COL18A1: view

No data available for SIGNOR curated interactions for COL18A1 Gene

Drugs & Compounds for COL18A1 Gene

No Compound Related Data Available

Transcripts for COL18A1 Gene

mRNA/cDNA for COL18A1 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL18A1

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

No ASD Table

Relevant External Links for COL18A1 Gene

GeneLoc Exon Structure for
COL18A1

Expression for COL18A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for COL18A1 Gene



Protein tissue co-expression partners for COL18A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL18A1

SOURCE GeneReport for Unigene cluster for COL18A1 Gene:

Hs.517356

mRNA Expression by UniProt/SwissProt for COL18A1 Gene:

P39060-COIA1_HUMAN
Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney.

Evidence on tissue expression from TISSUES for COL18A1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Kidney(4.7)
  • Pancreas(4.1)
  • Eye(3.6)
  • Heart(3.6)
  • Intestine(3.1)
  • Skin(3.1)
  • Lung(3)
  • Muscle(3)
  • Blood(2.9)
  • Lymph node(2.7)
  • Spleen(2.7)
  • Bone marrow(2.6)
  • Adrenal gland(2.2)
  • Stomach(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL18A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • head
  • meninges
  • skull
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with COL18A1: view

Orthologs for COL18A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL18A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL18A1 30 31
  • 97.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Col18a1 30
  • 77.36 (n)
Mouse
(Mus musculus)
Mammalia Col18a1 30 17 31
  • 75.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COL18A1 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COL18A1 31
  • 65 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia COL18A1 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COL18A1 30 31
  • 67.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COL18A1 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia col18a1 30
  • 59.25 (n)
Zebrafish
(Danio rerio)
Actinopterygii COL18A1 (2 of 2) 31
  • 41 (a)
OneToMany
col18a1 31
  • 39 (a)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta mp 31
  • 29 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cle-1 31 32
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for COL18A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for COL18A1 (if available)
TreeFam:
Gene Tree for COL18A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL18A1: view image

Paralogs for COL18A1 Gene

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

  • COIA1_HUMAN
  • D3DSM4_HUMAN
  • D3DSM5_HUMAN
  • H7BXV5_HUMAN
  • H7C457_HUMAN
  • L8ECK6_HUMAN
genes like me logo Genes that share paralogs with COL18A1: view

Variants for COL18A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for COL18A1 Gene

COIA1_HUMAN-P39060
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL18A1 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
666965 Likely Pathogenic: Knobloch syndrome 1 45,507,585(+) C/T NONSENSE
684620 Pathogenic: Knobloch syndrome 1 45,510,086(+) GCC/G FRAMESHIFT_VARIANT
721063 Likely Benign: not provided 45,477,475(+) C/A SYNONYMOUS_VARIANT
728124 Benign: not provided 45,477,494(+) C/G INTRON_VARIANT
769138 Benign: not provided 45,504,534(+) CA/. NO_SEQUENCE_ALTERATION

Additional dbSNP identifiers (rs#s) for COL18A1 Gene

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

Variant ID Type Subtype PubMed ID
dgv2409n106 CNV deletion 24896259
dgv2508e59 CNV duplication 20981092
dgv4436n100 CNV gain 25217958
dgv4437n100 CNV gain 25217958
dgv4438n100 CNV gain 25217958
dgv537n27 CNV gain 19166990
dgv538n27 CNV loss 19166990
dgv719e201 CNV deletion 23290073
dgv720e201 CNV deletion 23290073
dgv721e201 CNV deletion 23290073
dgv7899n54 CNV gain 21841781
dgv7900n54 CNV gain 21841781
dgv7901n54 CNV loss 21841781
dgv7902n54 CNV loss 21841781
dgv7903n54 CNV loss 21841781
dgv7904n54 CNV loss 21841781
esv1007573 CNV insertion 20482838
esv1007584 CNV insertion 20482838
esv1278020 CNV insertion 17803354
esv2438585 CNV insertion 19546169
esv2570683 CNV deletion 19546169
esv2660971 CNV deletion 23128226
esv2664467 CNV deletion 23128226
esv2667462 CNV deletion 23128226
esv2723751 CNV deletion 23290073
esv2723752 CNV deletion 23290073
esv2723753 CNV deletion 23290073
esv2723754 CNV deletion 23290073
esv2723755 CNV deletion 23290073
esv2723756 CNV deletion 23290073
esv2723757 CNV deletion 23290073
esv2723760 CNV deletion 23290073
esv2723762 CNV deletion 23290073
esv2723763 CNV deletion 23290073
esv2723764 CNV deletion 23290073
esv2723765 CNV deletion 23290073
esv2723767 CNV deletion 23290073
esv2723769 CNV deletion 23290073
esv2723770 CNV deletion 23290073
esv2723771 CNV deletion 23290073
esv2723773 CNV deletion 23290073
esv2723774 CNV deletion 23290073
esv2723775 CNV deletion 23290073
esv2723776 CNV deletion 23290073
esv2723778 CNV deletion 23290073
esv2723780 CNV deletion 23290073
esv2723781 CNV deletion 23290073
esv2723782 CNV deletion 23290073
esv2723784 CNV deletion 23290073
esv2723785 CNV deletion 23290073
esv2723786 CNV deletion 23290073
esv2723787 CNV deletion 23290073
esv2762114 CNV gain 21179565
esv3326161 CNV duplication 20981092
esv3347745 CNV duplication 20981092
esv3390843 CNV insertion 20981092
esv3409513 CNV insertion 20981092
esv3557845 CNV deletion 23714750
esv3893419 CNV gain 25118596
esv6137 CNV loss 19470904
esv990822 CNV insertion 20482838
nsv1057607 CNV gain 25217958
nsv1061760 CNV gain 25217958
nsv1071766 CNV deletion 25765185
nsv1109445 CNV deletion 24896259
nsv1109446 CNV deletion 24896259
nsv1109447 CNV deletion 24896259
nsv1112364 CNV deletion 24896259
nsv1116007 CNV insertion 24896259
nsv1116933 CNV deletion 24896259
nsv1121593 CNV deletion 24896259
nsv1123570 CNV deletion 24896259
nsv1123571 CNV deletion 24896259
nsv1125749 CNV tandem duplication 24896259
nsv1126008 CNV deletion 24896259
nsv1127903 CNV deletion 24896259
nsv1129226 CNV insertion 24896259
nsv1136648 CNV deletion 24896259
nsv1139037 CNV deletion 24896259
nsv1141400 CNV duplication 24896259
nsv1142333 CNV tandem duplication 24896259
nsv1143021 CNV tandem duplication 24896259
nsv1143022 CNV tandem duplication 24896259
nsv1143260 CNV deletion 24896259
nsv1146077 CNV duplication 26484159
nsv187181 CNV deletion 16902084
nsv459308 CNV loss 19166990
nsv470909 CNV gain 18288195
nsv516407 CNV loss 19592680
nsv520123 CNV gain 19592680
nsv587847 CNV gain 21841781
nsv587850 CNV loss 21841781
nsv587851 CNV loss 21841781
nsv587853 CNV loss 21841781
nsv587854 CNV loss 21841781
nsv587855 CNV loss 21841781
nsv587856 CNV loss 21841781
nsv587858 CNV loss 21841781
nsv587859 CNV loss 21841781
nsv587862 CNV loss 21841781
nsv834111 CNV loss 17160897
nsv834112 CNV gain 17160897
nsv953653 CNV deletion 24416366

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)

Additional Variant Information for COL18A1 Gene

Human Gene Mutation Database (HGMD)
COL18A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL18A1

Disorders for COL18A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
knobloch syndrome 1
  • kno1
glaucoma, primary closed-angle
  • glcc
inherited retinal disorder
  • retinal dystrophy
knobloch syndrome
  • retinal detachment and occipital encephalocele
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COIA1_HUMAN
  • 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.

Additional Disease Information for COL18A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Knobloch syndrome). (PMID: 10942434) Sertié AL … Passos-Bueno MR (Human molecular genetics 2000) 2 3 4 23
  2. 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 SP … Olsen BR (Genomics 1994) 2 3 4 23
  3. 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 medical genetics 2009) 3 23 41
  4. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PMID: 17546652) Keren B … Verloes A (American journal of medical genetics. Part A 2007) 2 3 23
  5. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. (PMID: 16807676) Lourenço GJ … Lima CS (Breast cancer research and treatment 2006) 3 23 41

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Sources for COL18A1 Gene