COL18A1 Gene

Aliases
for COL18A1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, ¹⁵RNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
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Previous GC identifers: GC21P043334 GC21P045681 GC21P045649 GC21P032201

Summaries
for COL18A1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for COL18A1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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Proteins
for COL18A1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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3 PDB 3D structures from and Proteopedia for COL18A1:

1BNL (3D)        3HON (3D)        3HSH (3D)    

Explore the universe of human proteins at neXtProt for COL18A1: NX_P39060

Explore proteomics data for COL18A1 at MOPED

Post-translational modifications: 

COL18A1 Human Recombinant Protein Products:

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	R&D Systems Recombinant & Natural Proteins for COL18A1 (Endostatin)
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	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	ProSpec Recombinant Protein for COL18A1
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for COL18A1
	GeneTex Proteins for COL18A1:                       Endostatin recombinant protein (GTX65524)
	antibodies-online proteins for COL18A1 (20 products)
	antibodies-online peptides for COL18A1

COL18A1 Antibody Products:

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	R&D Systems Antibodies for COL18A1 (Endostatin)
	OriGene Antibodies for COL18A1 OriGene Custom Antibody Services for COL18A1
	Novus Biologicals COL18A1 Antibodies
	Abcam antibodies for COL18A1 (P39059, P39060)
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibody for COL18A1
	antibodies-online antibodies for COL18A1 (70 products)

COL18A1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	R&D Systems ELISAs for COL18A1 (Endostatin)         (see all)
	GenScript Custom Assay Services for COL18A1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for COL18A1
	antibodies-online kits for COL18A1 (37 products)

Domains /
Families
for COL18A1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P39060

Find genes that share domains with COL18A1           About GenesLikeMe

Function
for COL18A1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

(inferred from 4 alleles) (MGI details for Col18a1)

genOway: Develop your customized and physiologically relevant rodent model for COL18A1

miRNA Products:		miRTarBase miRNAs that target COL18A1: hsa-mir-92a-3p (MIRT049203), hsa-mir-877-3p (MIRT037044)
		Block miRNA regulation of human, mouse, rat COL18A1 using miScript Target Protectors
		6 qRT-PCR Assays for microRNAs that regulate COL18A1:
		hsa-miR-9 hsa-miR-526b hsa-miR-516a-3p hsa-miR-516b* hsa-miR-578 hsa-miR-3159
		SwitchGear 3'UTR luciferase reporter plasmid: COL18A1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for COL18A1
		Predesigned siRNA for gene silencing in human, mouse, rat COL18A1

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for COL18A1

Clone Products:		OriGene clones in human, mouse for COL18A1 (see all 12) OriGene ORF clones in mouse, rat for COL18A1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): COL18A1 (NM_030582)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL18A1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for COL18A1
		Browse ESI BIO Cell Lines and PureStem Progenitors for COL18A1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1

Localization
for COL18A1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
endoplasmic reticulum	4
extracellular	4
plasma membrane	3
cytoskeleton	1
cytosol	1
golgi apparatus	1
lysosome	1
mitochondrion	1
nucleus	1
vacuole	1

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Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

Pathways & Interactions
for COL18A1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for COL18A1 About   (see all 11)   See pathways by source

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	SuperPath	Contained pathways About
1	Collagen biosynthesis and modifying enzymes	Collagen biosynthesis and modifying enzymes 0.75 Intrinsic Prothrombin Activation Pathway 0.39 Collagen formation 0.75 Blood Coagulation Cascade 0.38 Assembly of collagen fibrils and other multimeric structures 0.62
2	Integrin Pathway	FAK1 Signaling 0.67 UPA-UPAR Pathway 0.56 Integrin Pathway 0.67 Inhibition of Angiogenesis by TSP1 0.50 GnRH Signaling 0.56 Transendothelial Migration of Leukocytes 0.38
3	ERK Signaling	ERK Signaling 0.61 Molecular Mechanisms of Cancer 0.51 Rho Family GTPases 0.61 ILK Signaling 0.49 MAPK Signaling 0.58
4	Degradation of the extracellular matrix	Degradation of the extracellular matrix 0.43 Extracellular matrix organization 0.34 Collagen degradation 0.43
5	Phospholipase-C Pathway	PTEN Pathway 0.56 Phospholipase-C Pathway 0.56

Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL18A1

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

2 BioSystems Pathways for COL18A1

	FOXA1 transcription factor network
	Direct p53 effectors

Selected Reactome Pathways for COL18A1

	Laminin interactions
	Integrin cell surface interactions
	Collagen biosynthesis and modifying enzymes
	Assembly of collagen fibrils and other multimeric structures
	Collagen degradation

1 Kegg Pathway  (Kegg details for COL18A1)

Protein digestion and absorption

Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

Drugs & Compounds
for COL18A1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for COL18A1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for COL18A1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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COL18A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TAATCCTCAA

About this image

Brain (Nervous System)    fully expand to see all 4 entries
Midbrain tegmentum
Neural Tube (Nervous System)    fully expand to see all 3 entries
Metencephalon
Kidney (Urinary System)    fully expand to see all 2 entries
Ureteric Bud Cells Ureteric Bud
Metanephros
Thymus (Hematopoietic System)
Thymus
Epithelial Cells
Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for COL18A1
		Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL18A1
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		QuantiFast Probe-based Assays in human, mouse, rat COL18A1

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1

Orthologs
for COL18A1 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for COL18A1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for COL18A1 gene

COL15A1²  

1 SIMAP similar gene for COL18A1 using alignment to 6 protein entries:     COIA1_HUMAN (see all proteins):

COLQ

Find genes that share paralogs with COL18A1           About GenesLikeMe

Genomic Variants
for COL18A1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for COL18A1 (see all 3734)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs124833771,2,,4	C,F,H	pathogenic1	46931109(+)	CCTTTG/AACGGC	4	/N /D	mis1 ese3		31		NA NS EA MN EU	3505
rs1911348801,2		--	46823185(+)	CCCTGC/TCCCAG	1	--	us2k1		0	--	--	--	--
rs1467271841,2		--	46823307(+)	ATGGGG/TTGGGT	1	--	us2k1		0	--	--	--	--
rs1403673981,2	C	--	46823339(+)	GGCAGA/GTGAGA	1	--	us2k1		0	--	--	--	--
rs124825791,2	H	--	46823369(+)	CTGCAC/GTGCAG	1	--	us2k1		4		NS EA	416
rs786019091,2	C,F	--	46823375(+)	TGCAGG/CGTTAA	1	--	us2k1		2		CSA WA	120
rs758842651,2	C,F	--	46823382(+)	TTAATG/TGACAG	1	--	us2k1		2		CSA WA	120
rs1833174191,2		--	46823512(+)	ACAGAA/CACACA	1	--	us2k1		0	--	--	--	--
rs1396933531,2	C	--	46823544(+)	GAGAG-/ACAT     GCACACACATG	1	--	us2k1		0	--	--	--	--
rs1868512501,2		--	46823702(+)	TGTGCA/GATGAC	1	--	us2k1		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL18A1 (46825052 - 46933634 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for COL18A1 (see all 74):    About this table    

Variant ID	Type	Subtype	PubMed ID
esv2723773	CNV	Deletion	23290073
esv2723784	CNV	Deletion	23290073
esv2723770	CNV	Deletion	23290073
dgv764e201	CNV	Deletion	23290073
esv2660971	CNV	Deletion	23128226
esv2570683	CNV	Deletion	19546169
esv2723753	CNV	Deletion	23290073
esv2723765	CNV	Deletion	23290073
esv2723781	CNV	Deletion	23290073
esv2723771	CNV	Deletion	23290073

Human Gene Mutation Database (HGMD): COL18A1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing COL18A1

DNA2.0 Custom Variant and Variant Library Synthesis for COL18A1

Disorders / Diseases
for COL18A1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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.

Note=The disease is caused by mutations affecting the gene represented in this entry

6 diseases for COL18A1:    
About MalaCards

3 Novoseek inferred disease relationships for COL18A1 gene    About this table

Publications
for COL18A1 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for COL18A1 gene, integrated from 10 sources (see all 155): (articles sorted by number of sources associating them with COL18A1)

Utopia: connect your pdf to the dynamic world of online information

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. (PubMed id 10942434)^{1, 2, 3, 9} Sertie A.L....Passos-Bueno M.R. (Hum. Mol. Genet. 2000)
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. (PubMed id 8188291)^{1, 2, 3, 9} Oh S.P....Olsen B.R. (Genomics 1994)
3. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (PubMed id 14695535)^{1, 2, 9} Menzel O.... Guipponi M. (Hum. Mutat. 2004)
4. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). (PubMed id 19961619)^{1, 4, 9} Castro-Giner F....de Cid R. (BMC Med. Genet. 2009)
5. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. (PubMed id 16807676)^{1, 4, 9} LourenAso G.J....Lima C.S. (Breast Cancer Res. Treat. 2006)
6. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PubMed id 17546652)^{1, 3, 9} Keren B....Verloes A. (Am. J. Med. Genet. A 2007)
7. No evidence for locus heterogeneity in Knobloch syndrome. (PubMed id 23667181)^{1, 2} Aldahmesh M.A....Alkuraya F.S. (J. Med. Genet. 2013)
8. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)^{1, 4} Roberts K.E....Fallon M.B. (Gastroenterology 2010)
9. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)^{1, 4} Zhang X....Wu X. (Carcinogenesis 2010)
10. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)^{1, 4} Guey L.T....Malats N. (Eur. Urol. 2010)

External Searches for COL18A1 gene

Genome Databases showing COL18A1 gene

Other Databases showing COL18A1 gene

Specialized Databases showing COL18A1 gene

Products
for COL18A1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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