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COL18A1 Gene(Protein Coding)

Collagen Type XVIII Alpha 1 Chain

GCID:
GC21P045405
GIFtS:
65
Genes Participants
UDN Logo

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, Type 1 and Knobloch Syndrome. Among its related pathways are Collagen chain trimerization 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL18A1 Gene

Genomics for COL18A1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for COL18A1 Gene

Enhancers for COL18A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G045477 1.2 Ensembl ENCODE 51.7 +73.6 73643 3.3 CREB3L1 ARNT SIN3A ZNF48 ZBTB7B YY1 GLIS2 ZNF143 ZNF207 ZHX2 COL18A1 MIR6815 PIR52364
GH21G045468 1.8 FANTOM5 Ensembl ENCODE dbSUPER 33.8 +65.7 65734 4.2 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 TCF12 SLC30A9 COL18A1 MIR6815 GC21M045342
GH21G045429 1.5 Ensembl ENCODE dbSUPER 39.6 +26.8 26787 5.2 FOXA2 MLX ARID4B DMAP1 ZNF48 TCF12 FOS SP5 ZHX2 JUNB COL18A1 MCM3AP-AS1 ENSG00000228355 MTCO1P3 ENSG00000215447 ENSG00000228137 ENSG00000239415 PTTG1IP GC21M045342 COL18A1-AS1
GH21G045438 1.8 FANTOM5 Ensembl ENCODE dbSUPER 30.9 +34.4 34438 2.7 ATF1 CREB3L1 ARID4B ZNF48 ZNF143 ZNF207 ZHX2 MXD4 ZNF488 REST COL18A1 GC21M045342 MIR6815
GH21G045482 0.9 Ensembl ENCODE 51.9 +78.1 78059 1.6 PKNOX1 FOXA2 TAL1 MNT ZBTB7A FOXA1 TCF12 ARID1B ZNF157 RBFOX2 COL18A1 ENSG00000239415 ENSG00000215447 MIR6815 PIR52364
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000143227 563 1801 HDAC1 SIN3A THRB ZNF48 ZNF592 TGIF2 MBD2 SP1 GLIS1 MXD3

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

Genomic Location for COL18A1 Gene

Chromosome:
21
Start:
45,405,137 bp from pter
End:
45,513,720 bp from pter
Size:
108,584 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 Structure • Gene Density

RefSeq DNA sequence for COL18A1 Gene

Proteins for COL18A1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for COL18A1 Gene

    Alternative splice isoforms for COL18A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL18A1 Gene

Protein Expression for COL18A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Asn68, Asn129, posLast=164164, Asn691, posLast=12921292, posLast=13041304, and posLast=13321332
  • Modification sites at PhosphoSitePlus

Other Protein References for COL18A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL18A1

Assay Products

No data available for DME Specific Peptides for COL18A1 Gene

Domains & Families for COL18A1 Gene

Gene Families for COL18A1 Gene

HGNC:

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

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

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

Inhibitory RNA Products

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.

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

Gene Ontology (GO) - Cellular Components for COL18A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA,TAS --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for COL18A1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

Collagen, type XVIII, alpha 1:
Representative Sequences:

Inhibitory RNA Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for COL18A1 Gene
mRNA expression by BioGPS for COL18A1 GenemRNA expression by GTEx 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
Organs:
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

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
chimpanzee
(Pan troglodytes)
 Mammalia COL18A1 34 35
  • 97.45 (n)
rat
(Rattus norvegicus)
 Mammalia Col18a1 34
  • 77.36 (n)
mouse
(Mus musculus)
 Mammalia Col18a1 34 16 35
  • 75.59 (n)
cow
(Bos Taurus)
 Mammalia COL18A1 35
  • 68 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia COL18A1 35
  • 65 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia COL18A1 35
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves COL18A1 34 35
  • 67.21 (n)
lizard
(Anolis carolinensis)
 Reptilia COL18A1 35
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia col18a1 34
  • 59.25 (n)
zebrafish
(Danio rerio)
 Actinopterygii COL18A1 (2 of 2) 35
  • 41 (a)
 OneToMany
col18a1 35
  • 39 (a)
 OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
 Insecta mp 35
  • 29 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea cle-1 36 35
  • 33 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs12483377 Pathogenic 45,511,195(+) CCTTT(A/G)ACGGC intron-variant, reference, missense
rs398122391 Pathogenic 45,510,091(+) GCCCC(-/CT)GTCAG intron-variant, reference, frameshift-variant
rs797045476 Pathogenic 45,491,275(+) CCCCC(-/C)GGACC reference, frameshift-variant
rs886037627 Pathogenic 45,504,511(+) CCCCC(-/C)GGCCC intron-variant, reference, frameshift-variant
rs886041437 Pathogenic 45,505,244(+) CCCCC(AG/C)GGCCC intron-variant, reference, frameshift-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
knobloch syndrome, type 1
  • knobloch syndrome 1
knobloch syndrome
  • myopia retinal detachment encephalocele
encephalocele
  • bifid cranium
occipital encephalocele
alveolar capillary dysplasia with misalignment of pulmonary veins
  • acd
- 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.

Relevant External Links for COL18A1

Genetic Association Database (GAD)
COL18A1
Human Genome Epidemiology (HuGE) Navigator
COL18A1
Tumor Gene Database (TGDB):
COL18A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL18A1
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 22 64
  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 S.P. … Olsen B.R. (Genomics 1994) 2 3 4 22 64
  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 Med. Genet. 2009) 3 22 46 64
  4. 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 22 64
  5. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. (PMID: 16807676) LourenAso G.J. … Lima C.S. (Breast Cancer Res. Treat. 2006) 3 22 46 64

Products for COL18A1 Gene

Sources for COL18A1 Gene

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