Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COL18A1 Gene

Aliases for COL18A1 Gene

  • Collagen Type XVIII Alpha 1 Chain 2 3 5
  • Collagen, Type XVIII, Alpha 1 2 3
  • Endostatin 2 3
  • Collagen Alpha-1(XVIII) Chain Isoform 1 Preproprotein 3
  • Collagen Alpha-1(XVIII) Chain 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 Chain) is a Protein Coding gene. Diseases associated with COL18A1 include Knobloch Syndrome 1 and Knobloch Syndrome. Among its related pathways are Integrin Pathway and ERK Signaling. 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 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

Additional gene information for COL18A1 Gene

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

Genomics for COL18A1 Gene

GeneHancer (GH) Regulatory Elements for COL18A1 Gene

Promoters and enhancers for COL18A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I045402 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.1 +2.4 2408 9.3 HDGF PKNOX1 SMAD1 ARNT MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF766 COL18A1 MCM3AP-AS1 ENSG00000215447 ENSG00000228137 ENSG00000239415 COL18A1-AS2 LL21NC02-21A1.1 GC21M045662
GH21I045455 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 550.2 +50.4 50445 0.8 TAF1 ZIC2 RARA YY1 CTBP1 GLIS2 MAZ ZNF687 RXRA SP2 COL18A1 GC21M045662 MIR6815
GH21I045477 Enhancer 1.1 Ensembl ENCODE 51.7 +73.6 73643 3.3 ARNT SIN3A ZNF48 ZBTB7B YY1 GLIS2 ZNF207 ZNF143 ATF7 NCOA1 MIR6815 COL18A1 PIR52364
GH21I045468 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 33.8 +65.7 65733 4.2 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 TCF12 COL18A1 MIR6815 GC21M045662
GH21I045429 Enhancer 1.3 Ensembl ENCODE dbSUPER 39.6 +26.8 26787 5.2 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 TCF12 FOS SP5 GC21M045662 COL18A1 MCM3AP-AS1 ENSG00000228355 MTCO1P3 ENSG00000215447 ENSG00000228137 ENSG00000239415 PTTG1IP COL18A1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL18A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL18A1 gene promoter:

Genomic Locations for COL18A1 Gene

Genomic Locations for COL18A1 Gene
chr21:45,405,137-45,513,720
(GRCh38/hg38)
Size:
108,584 bases
Orientation:
Plus strand
chr21:46,825,052-46,933,634
(GRCh37/hg19)

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).

    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

  • Circulating endostatins are found as sialoglycoprotein and asialoglycoprotein structures.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) of the triple-helical regions are hydroxylated.
  • 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 posLast=6868, posLast=129129, Asn164, posLast=691691, posLast=12921292, posLast=13041304, and Thr1332
  • Modification sites at PhosphoSitePlus

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

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

GENATLAS Biochemistry:
collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain
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).

Phenotypes From GWAS Catalog for COL18A1 Gene

Gene Ontology (GO) - Molecular Function for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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

Clone Products

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
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 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 IDA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA,TAS --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA,IDA 20551380
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

Activates:

Gene Ontology (GO) - Biological Process for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001886 endothelial cell morphogenesis IEA --
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

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:

Clone Products

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

No ASD Table

Relevant External Links for COL18A1 Gene

GeneLoc Exon Structure for
COL18A1
ECgene alternative splicing isoforms for
COL18A1

Expression for COL18A1 Gene

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



Protein tissue co-expression partners for COL18A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL18A1 Gene:

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(4.6)
  • Pancreas(3.8)
  • Eye(3.3)
  • Heart(3.3)
  • Lung(2.9)
  • Intestine(2.6)
  • Blood(2.4)
  • Muscle(2.4)
  • Skin(2.4)
  • Lymph node(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 33 34
  • 97.45 (n)
rat
(Rattus norvegicus)
Mammalia Col18a1 33
  • 77.36 (n)
mouse
(Mus musculus)
Mammalia Col18a1 33 16 34
  • 75.59 (n)
cow
(Bos Taurus)
Mammalia COL18A1 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL18A1 34
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL18A1 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL18A1 33 34
  • 67.21 (n)
lizard
(Anolis carolinensis)
Reptilia COL18A1 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col18a1 33
  • 59.25 (n)
zebrafish
(Danio rerio)
Actinopterygii COL18A1 (2 of 2) 34
  • 41 (a)
OneToMany
col18a1 34
  • 39 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta mp 34
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cle-1 35 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for COL18A1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for COL18A1 (if available)
TreeFam:
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

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 from dbSNP and Humsavar for COL18A1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1007755355 uncertain-significance, Knobloch syndrome 1 45,513,036(+) G/A 3_prime_UTR_variant
rs1013770786 uncertain-significance, Knobloch syndrome 1 45,512,903(+) G/A 3_prime_UTR_variant
rs1032646885 uncertain-significance, Knobloch syndrome 1 45,513,601(+) A/G 3_prime_UTR_variant
rs1057518766 likely-pathogenic, Progressive neurodegenerative disease 45,505,372(+) G/A coding_sequence_variant, missense_variant
rs1057518802 likely-pathogenic, Cataract, Nystagmus, Retinal dystrophy, Severe Myopia 45,509,554(+) C/T coding_sequence_variant, stop_gained

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

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

Disorder Aliases PubMed IDs
knobloch syndrome 1
  • kno1
knobloch syndrome
  • retinal detachment and occipital encephalocele
occipital encephalocele
encephalocele
  • bifid cranium
alveolar capillary dysplasia with misalignment of pulmonary veins
  • acdmpv
- 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
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 22 58
  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 22 58
  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 22 44 58
  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 22 58
  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 22 44 58

Products for COL18A1 Gene

Sources for COL18A1 Gene

Content
Loading form....