Aliases for COL18A1 Gene
Aliases for COL18A1 Gene
External Ids for COL18A1 Gene
- HGNC: 2195
- Entrez Gene: 80781
- Ensembl: ENSG00000182871
- OMIM: 120328
- UniProtKB: P39060
Previous HGNC Symbols for COL18A1 Gene
- KNO
Previous GeneCards Identifiers for COL18A1 Gene
- GC21P043334
- GC21P045681
- GC21P045649
- GC21P046825
- GC21P032201
Summaries 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).
Additional gene information for COL18A1 Gene
- Monarch Initiative
- Search for COL18A1 at DataMed
- Search for COL18A1 at HumanCyc
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
- 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:
Regulatory Element Products
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:
-
- 21q22.3 by Ensembl
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
COL18A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for COL18A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for COL18A1 (Endostatin)
-
Custom Antibody ServicesOriGene Antibodies for COL18A1
- Novus Biologicals Antibodies for COL18A1
-
Abcam antibodies for COL18A1
-
Cloud-Clone Corp. Antibodies for COL18A1
- Invitrogen Antibodies for COL18A1
- GeneTex COL18A1 antibody for COL18A1
-
Santa Cruz Biotechnology (SCBT) Antibodies for COL18A1
Protein Products
- R&D Systems Proteins and Enzymes for COL18A1 (Endostatin)
-
OriGene Purified Proteins for COL18A1
- Search Origene for MassSpec and Protein Over-expression Lysates for COL18A1
- Origene Custom Protein Services for COL18A1
- Novus Biologicals proteins for COL18A1
-
Cloud-Clone Corp. Proteins for COL18A1
- GeneTex Proteins for COL18A1
-
ProSci Proteins for COL18A1
-
Abcam proteins for COL18A1
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for COL18A1
- R&D Systems ELISAs, Luminex Assays, Proteome Profiler Antibody Arrays, and other biochemical assays for COL18A1 (Endostatin)
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for COL18A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P39060- Family:
-
- Belongs to the multiplexin collagen family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005198 | structural molecule activity | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for COL18A1 Gene
- MGI mutant phenotypes for COL18A1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for COL18A1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for COL18A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for COL18A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL18A1 gene
- Search ViGene Biosciences for COL18A1
CRISPR Products
-
OriGene CRISPR knockouts for COL18A1
- genomics-online: gRNA clones - Search results for 94 available COL18A1 gene related products
- Overview of 94 available COL18A1 gene related products
- Applied Biological Materials CRISPR for COL18A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL18A1
- GenScript: Design CRISPR guide RNA sequences for COL18A1
miRNA for COL18A1 Gene
- miRTarBase miRNAs that target COL18A1
-
- hsa-mir-877-3p (MIRT037044)
- hsa-mir-92a-3p (MIRT049203)
- hsa-mir-6749-5p (MIRT527331)
- hsa-mir-450a-1-3p (MIRT527332)
- hsa-mir-3977 (MIRT527333)
- hsa-mir-3157-5p (MIRT527334)
- hsa-mir-8059 (MIRT527335)
- hsa-mir-4471 (MIRT527336)
- hsa-mir-1292-5p (MIRT527337)
- hsa-mir-661 (MIRT527338)
- hsa-mir-27b-5p (MIRT527339)
- hsa-mir-7155-5p (MIRT527340)
- hsa-mir-6852-5p (MIRT527341)
- hsa-mir-4538 (MIRT527342)
- hsa-mir-4453 (MIRT527343)
- hsa-mir-1227-5p (MIRT736165)
- hsa-mir-1257 (MIRT736610)
- hsa-mir-125a-3p (MIRT736623)
- hsa-mir-3155a (MIRT740428)
- hsa-mir-3155b (MIRT740439)
- hsa-mir-3175 (MIRT740651)
- hsa-mir-3665 (MIRT742041)
- hsa-mir-4259 (MIRT743454)
- hsa-mir-4260 (MIRT743465)
- hsa-mir-4284 (MIRT743727)
- hsa-mir-4310 (MIRT743943)
- hsa-mir-4711-5p (MIRT747442)
- hsa-mir-4736 (MIRT747992)
- hsa-mir-484 (MIRT749044)
- hsa-mir-486-3p (MIRT749098)
- hsa-mir-513a-5p (MIRT749764)
- hsa-mir-513b-3p (MIRT749774)
- hsa-mir-5192 (MIRT749937)
- hsa-mir-571 (MIRT751398)
- hsa-mir-6721-5p (MIRT753785)
- hsa-mir-6731-5p (MIRT753997)
- hsa-mir-6798-5p (MIRT756252)
- hsa-mir-6815-3p (MIRT756764)
- hsa-mir-7157-5p (MIRT759282)
- hsa-mir-8085 (MIRT760200)
miRNA Products
- Search ViGene Biosciences for COL18A1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL18A1
- Browse OriGene Inhibitory RNA Products For COL18A1
- genomics-online: shRNA clones - Search results for 94 available COL18A1 gene related products
- Overview of 94 available COL18A1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for COL18A1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for COL18A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL18A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for COL18A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for COL18A1
-
ViGene Biosciences adenoviral particle packaged cDNA for COL18A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for COL18A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for COL18A1 gene
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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| plasma membrane | 3 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
| 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 |
Pathways & Interactions for COL18A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization | ||
| 2 | Integrin Pathway |
.67
.67
.56
|
.56
|
| 3 | ERK Signaling |
.61
.58
|
.49
|
| 4 | Degradation of the extracellular matrix | ||
| 5 | Phospholipase-C Pathway |
.56
|
|
Pathways by source for COL18A1 Gene
2 BioSystems pathways for COL18A1 Gene
1 KEGG pathway for COL18A1 Gene
15 Qiagen pathways for COL18A1 Gene
Interacting Proteins for COL18A1 Gene
Selected Interacting proteins:
ENSP00000347665
P39060-COIA1_HUMAN
for COL18A1 Gene via
STRING
UniProtKB
IID
| 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 | -- |
Transcripts for COL18A1 Gene
mRNA/cDNA for COL18A1 Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (324) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for COL18A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for COL18A1
- genomics-online: gRNA clones - Search results for 94 available COL18A1 gene related products
- Overview of 94 available COL18A1 gene related products
- Applied Biological Materials CRISPR for COL18A1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL18A1
- GenScript: Design CRISPR guide RNA sequences for COL18A1
miRNA Products
- Search ViGene Biosciences for COL18A1
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL18A1
- Browse OriGene Inhibitory RNA Products For COL18A1
- genomics-online: shRNA clones - Search results for 94 available COL18A1 gene related products
- Overview of 94 available COL18A1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for COL18A1 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for COL18A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for COL18A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for COL18A1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for COL18A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephros
-
Hair (Integumentary System)
- Bulge Stem Cells Bulge
- Basal Keratinocytes Embryonic Epidermis
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Optic Nerve
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Basal Keratinocytes Embryonic Epidermis
- Umbilical Cord (Extraembryonic Tissues)
-
Heart (Cardiovascular System)
- Primitive Heart Tube Cells Primitive Heart Tube
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
- Lower Urinary Tract (Urinary System)
- Thymus (Hematopoietic System)
- Mesenchymal Stem Cells (Uncategorized)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of COL18A1 Gene:
COL18A1SOURCE GeneReport for Unigene cluster for COL18A1 Gene:
Hs.517356mRNA 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
Organs:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- eye
- head
- meninges
- skull
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for COL18A1
Orthologs for COL18A1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL18A1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Col18a1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Col18a1 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | COL18A1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL18A1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL18A1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL18A1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | COL18A1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col18a1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | COL18A1 (2 of 2) 34 |
|
OneToMany | |
| col18a1 34 |
|
OneToMany | |||
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mp 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | cle-1 35 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for COL18A1 Gene
(1) SIMAP similar genes for COL18A1 Gene using alignment to 6 proteins:
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.
| 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 |
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
Disorders for COL18A1 Gene
(16) MalaCards diseases for COL18A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| knobloch syndrome 1 |
|
|
| knobloch syndrome |
|
|
| occipital encephalocele |
|
|
| encephalocele |
|
|
| alveolar capillary dysplasia with misalignment of pulmonary veins |
|
|
Search COL18A1 in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for COL18A1 Gene
Publications for COL18A1 Gene
- 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
- 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
- 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
- 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
- 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
- R&D Systems Antibodies for COL18A1 (Endostatin)
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- Custom Antibody ServicesOriGene Antibodies for COL18A1
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- Invitrogen Antibodies for COL18A1
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- GeneTex COL18A1 antibody for COL18A1
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- genomics-online: cdna clones - Search results for 94 available COL18A1 gene related products
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Sources for COL18A1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (14) ProtoNet
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- (21) IntAct
- (22) Novoseek
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- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
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- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
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- (96) Addgene
- (97) antibodies-online
- (98) CYP
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- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
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- (105) Taconic Biosciences
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