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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL18A1 Gene

protein-coding GIFtS: 68
GCID: GC21P046825

collagen, type XVIII, alpha 1

(Previous names: Knobloch syndrome, type 1 )
(Previous symbol: KNO)

Explore 61 diseases affiliated with
COL18A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Collagen, Type XVIII, Alpha 1¹ ²		Human Type XVIII Collagen11
KNO1¹ ² ⁵		Antiangiogenic Agent²
KNO¹ ²		Collagen Alpha-1(XVIII) Chain²
KS¹ ²		Endostatin¹
Knobloch Syndrome, Type 1¹		Multi-Functional Protein MFP²

External Ids:	HGNC: 2195¹	Entrez Gene: 80781²	Ensembl: ENSG00000182871⁷	OMIM: 120328⁵	UniProtKB: P39060³

Export aliases for COL18A1 gene to outside databases

Previous GC identifers: GC21P043334 GC21P045681 GC21P045649 GC21P032201

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for COL18A1:

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. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent

antiangiogenic protein. 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. Alternatively spliced transcript variants encoding different isoforms have been found for this

gene. (provided by RefSeq, Sep 2008)

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060

Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the

neural tube

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 Wiki entry for COL18A1 (Collagen, type XVIII, alpha 1)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence:

NC_000021.8 NC_018932.1 NT_011515.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL18A1 gene promoter:
p53 STAT3 NF-kappaB NF-kappaB1 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL18A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL18A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL18A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band: 21q22.3

COL18A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL18A1 gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21P046825:	GeneLoc	Nature:405,311-319
Start:	46,825,052 bp from pter	32,384,934 bp from centromere
End:	46,933,634 bp from pter	32,443,158 bp from centromere
Size:	108,583 bases	58,225 bases
Orientation:	plus strand	plus strand

Whole chromosome sequencing:
cDNA sequence:	AF018081
genomic clones:	P310E12 BAC-53I10

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060 (See protein sequence)

Recommended Name: Collagen alpha-1(XVIII) chain precursor

Size: 1754 amino acids; 178188 Da

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

3 PDB 3D structures from and Proteopedia for COL18A1:

1BNL (3D)

3HON (3D)

3HSH (3D)

Secondary accessions: A8MVI4 Q58EX6 Q6RZ39 Q6RZ40 Q6RZ41 Q8N4S4 Q8WXI5 Q96T70 Q9UK38 Q9Y6Q7 Q9Y6Q8

Alternative promoter usage, Alternative splicing: 3 isoforms: P39060-3 P39060-1 P39060-2 (Produced by alternative promoter usage)

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

Post-translational modifications:

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P39060

COL18A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_085059.2 NP_569712.2

ENSEMBL proteins:

ENSP00000383191 ENSP00000347665 ENSP00000339118 ENSP00000415692 ENSP00000352798

Reactome Protein details: P39060
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant COL18A1 Protein
	R&D Systems Recombinant & Natural Proteins for COL18A1 (Endostatin)
	Enzo Life Sciences proteins for COL18A1
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	GenScript Purified and Recombinant Proteins for COL18A1
	Novus Biologicals COL18A1 Proteins
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for COL18A1
	Uscn Proteins for COL18A1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005581	collagen	IEA	--
GO:0005604	basement membrane	IEA	--
GO:0005615	extracellular space	IDA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--

COL18A1 for ontologies About GeneDecksing

COL18A1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of COL18A1
	R&D Systems Antibodies for COL18A1 (Endostatin)
	Browse OriGene Antibodies OriGene Custom Antibody Services for COL18A1
	GenScript Superior Antibodies for COL18A1
	Novus Biologicals COL18A1 Antibodies
	Search for Antibodies for COL18A1 at Abcam
	Uscn Antibodies for COL18A1
	ThermoFisher Antibody for COL18A1

Assay Products for COL18A1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for COL18A1 (Endostatin) (see all)
	GenScript Custom Assay Services for COL18A1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for COL18A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

COL18A1 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR026917 COL18A1

IPR001791 Laminin_G

IPR020067 Frizzled_dom

IPR016187 C-type_lectin_fold

IPR010515 Collagenase_NC10/endostatin

Graphical View of Domain Structure for InterPro Entry P39060

ProtoNet protein and cluster: P39060

5 Blocks protein families:

IPB001791 Laminin G

IPB003129 Thrombospondin

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

IPB010515 Collagenase NC10 and endostatin

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060

Similarity: Belongs to the multiplexin collagen family

Similarity: Contains 1 FZ (frizzled) domain

Similarity: Contains 1 laminin G-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060

Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the

neural tube

Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis by

binding to the heparan sulfate proteoglycans involved in growth factor signaling

Genatlas biochemistry entry for COL18A1:

collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain

miRNA Products:		OriGene 3'-UTR Clone (see all 3): COL18A1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL18A1
		6 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL18A1 (see all 4) OriGene shRNA RFP: COL18A1 OriGene siRNA: COL18A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL18A1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for COL18A1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL18A1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL18A1 (see first 1) NM_030582 (human cat#: SC305264) NM_130444 (human cat#: SC326401) NM_130445 (human cat#: SC305890) 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
		Search LifeMap BioReagents cell lines for COL18A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	IEA	--
GO:0005515	protein binding	IPI	19877579
GO:0042802	identical protein binding	IPI	16269408
GO:0046872	metal ion binding	IEA	--

COL18A1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Col18a1^tm1Hms for COL18A1
     9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Col18a1):

cardiovascular system	craniofacial	homeostasis/metabolism	nervous system	other
renal/urinary system	skeleton	tumorigenesis	vision/eye

COL18A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Collagen formation

Collagen formation	1.00	Extracellular matrix organization	0.54
Collagen biosynthesis and modifying enzymes	0.74	Secretion of collagens	0.49
Assembly of collagen fibrils and other multimeric structures	0.65

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Degradation of the extracellular matrix

Degradation of the extracellular matrix

1.00

Degradation of collagen

0.79

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for COL18A1

Selected targets of p53

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL18A1 (see all 15)

	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

5/8 Reactome Pathways for COL18A1 (see all 8)

	Endostatin degradation by cathepsins
	Extracellular matrix organization
	Secretion of collagens
	Collagen biosynthesis and modifying enzymes
	Assembly of collagen fibrils and other multimeric structures

1 Kegg Pathway (Kegg details for COL18A1):

Protein digestion and absorption

COL18A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for COL18A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/66 Interacting proteins for COL18A1 (P39060^{1, 3} ENSP00000352798⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 66)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TECPR1	Q7Z6L1³, ENSP00000404923⁴	I2D: score=3 STRING: ENSP00000404923
KDR	P35968³, ENSP00000263923⁴	I2D: score=1 STRING: ENSP00000263923
TGM2	P21980¹, ENSP00000355330⁴	EBI-2566375,EBI-727668 STRING: ENSP00000355330
NCL	P19338¹, ENSP00000318195⁴	EBI-2566375,EBI-352553 STRING: ENSP00000318195
APP	P05067¹	EBI-2566375,EBI-821758

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

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	--

COL18A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for COL18A1
Search CenterWatch for drugs/clinical trials and news about COL18A1 / COIA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for COL18A1 gene (3 alternative transcripts):

NM_030582.3 NM_130445.2 NM_130444.2

Unigene Cluster for COL18A1:

Collagen, type XVIII, alpha 1

Hs.517356 [show with all ESTs]

Unigene Representative Sequence: AF018081

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000400337(uc002zhg.3) ENST00000355480(uc002zhi.3) ENST00000342220(uc002zhj.3 uc002zhk.3)

ENST00000459895 ENST00000423214 ENST00000473212 ENST00000359759

miRNA Products:		OriGene 3'-UTR Clone (see all 3): COL18A1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL18A1
		6 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL18A1 (see all 4) OriGene shRNA RFP: COL18A1 OriGene siRNA: COL18A1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL18A1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL18A1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL18A1 (see all 3) 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)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL18A1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL18A1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL18A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL18A1

Additional cDNA sequence:

AF018081.1 AF018082.1 AF184060.1 AF333246.1 AF333247.1 AF416592.1 AK098216.1 AK130835.1

AK311062.1 BC033715.1 BC063833.1

18 DOTS entries:

DT.447571 DT.92001135 DT.91912586 DT.95302146 DT.121139495 DT.101985460 DT.100039632 DT.95220877

DT.99986442 DT.92436231 DT.100034049 DT.40116647 DT.100039626 DT.100039627 DT.95090195 DT.95349603

DT.91744920 DT.99955859

24/195 AceView cDNA sequences (see all 195):

CA426982 AA350510 NM_003056 AI074505 NM_194255 BU502539 AI814596 AI738703

CR602937 AW298029 BQ003811 F02853 R86040 BU680493 AA743360 BE881571

AI204685 AA913825 T28473 AI858077 AI970756 AI660746 AA350511 AK127669

GeneLoc Exon Structure

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

COL18A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAATCCTCAA

About this image

COL18A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Ciliary Marginal Zone

Ciliary Marginal Zone Cells

Selective marker (cell-identifying gene)

Neural Ectoderm

Kidney

Spinal Neural Tube Cells

Neural Ectoderm

Pancreas

Dorsal Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Ventral Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Testis

Brain

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See COL18A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL18A1

SOURCE GeneReport for Unigene cluster: Hs.517356

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060

Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including COL18A1:

Endothelial Cell Biology in human mouse rat

Angiogenic Growth Factors in human mouse rat

Apoptosis 384HT in human mouse rat

Angiogenesis in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL18A1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat COL18A1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL18A1
		QIAGEN 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 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for COL18A1 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL18A1¹	collagen, type XVIII, alpha 1	65.23(n) 63.75(a)		373978 NM_204164.1 NP_989495.1
lizard (Anolis carolinensis)	Reptilia	-- COL18A1⁶ (see all 3)	--	6(a) 58(a) (see all 3)	possible ortholog 1 ↔ 1 (see all 3)	5(3529736-3603275) 1(90395003-90458517)
African clawed frog (Xenopus laevis)	Amphibia	AB047066.1²	--	74.53(n)		AB047066.1
zebrafish (Danio rerio)	Actinopterygii	AJ494837.1²	--	75.34(n)		360140 AJ494837.1
fruit fly (Drosophila melanogaster)	Insecta	mp¹	multiplexin	49.87(n) 45.29(a)		38769 NM_001169887.2 NP_001163358.1
worm (Caenorhabditis elegans)	Secernentea	cle-1³	cle-1 isoform A	33(a)		I(8714046-8732339) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for COL18A1 gene

COL15A1²

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

COLQ COL7A1

COL18A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060

Polymorphism: 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	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12483377^1,2	C,F,H,	pathogenic	46931109(+)	`CCTTTG/AACGGC`	4	/N /D	mis¹ ese³		31		NA NS EA MN EU	3505
rs12482684^1,2	C,H	--	32297339(+)	`gtgtgT/Gagtgt`	1	--	int¹		2		WA NA	4
rs191134880^1,2		--	46823185(+)	`CCCTGC/TCCCAG`	1	--	us2k¹		0	--	--	--	--
rs146727184^1,2		--	46823307(+)	`ATGGGG/TTGGGT`	1	--	us2k¹		0	--	--	--	--
rs140367398^1,2		--	46823339(+)	`GGCAGA/GTGAGA`	1	--	us2k¹		0	--	--	--	--
rs12482579^1,2	H	--	46823369(+)	`CTGCAC/GTGCAG`	1	--	us2k¹		4		NS EA	416
rs78601909^1,2		--	46823375(+)	`TGCAGG/CGTTAA`	1	--	us2k¹		2		CSA WA	120
rs75884265^1,2		--	46823382(+)	`TTAATG/TGACAG`	1	--	us2k¹		2		CSA WA	120
rs183317419^1,2		--	46823512(+)	`ACAGAA/CACACA`	1	--	us2k¹		0	--	--	--	--
rs139693353^1,2	C,	--	46823544(+)	`GAGAG-/ACAT GCACACACATG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for COL18A1 (46825052 - 46933634 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for COL18A1
7 CNVs: 50788 61984 53305 53268 39306 103116 50787
1 Indel: 103117
Human Gene Mutation Database (HGMD): COL18A1

SABiosciences Cancer Mutation PCR Assays

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(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.)
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COL18A1 for disorders           About GeneDecksing

OMIM gene information: 120328
OMIM disorders: 267750
UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060

Defects in COL18A1 are a cause of Knobloch syndrome type 1 (KNO1) [MIM:267750]. An autosomal recessive

disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular

abnormalities and occipital encephalocele

20/61 diseases for COL18A1 (see all 61): About MalaCards

knobloch syndrome retinitis age related macular degeneration encephalocele

encephaloceles traumatic brain injury clear cell renal cell carcinoma vitreoretinal degeneration

brain injury idiopathic pulmonary fibrosis funisitis bronchopulmonary dysplasia

diabetes, type 2 retinal detachment renal cell carcinoma breast cancer susceptibility

pulmonary fibrosis sporadic breast cancer rhabdoid tumors macular degeneration

1 disease from the University of Copenhagen DISEASES database for COL18A1:

Lung cancer

3 Novoseek disease relationships for COL18A1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
knobloch syndrome	98.5	6	19390655 (2), 14695535 (1), 17546652 (1), 18484314 (1) (see all 5)
occipital encephalocele	81.6	1	15857886 (1)
tumors	0	1	20212451 (1)

Genetic Association Database (GAD): COL18A1
Human Genome Epidemiology (HuGE) Navigator: COL18A1 (19 documents)
Tumor Gene Database (TGDB): COL18A1

Export disorders for COL18A1 gene to outside databases

(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 9 sources (see all 144):
(articles sorted by number of sources associating them with COL18A1)

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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. (2000)
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. (1994)
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. (2004)
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PubMed id 17546652)^{1, 3, 9} Keren B....Verloes A. (2007)
Endostatin polymorphism 4349G/A(D104N) is not associated with aggressiveness of disease in prostate [corrected] cancer. (PubMed id 15735323)^{1, 4} Li H.C....Lu B. (2005)
Genotyping and functional analysis of the D104N variant of human endostatin. (PubMed id 15662127)^{1, 4} Macpherson G.R....Figg W.D. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Assocation of endostatin D104N with leukemia. (PubMed id 12693719)^{1, 4} Liu T.C....Chang J.G. (2003)
Characterization of the human type XVIII collagen gene and proteolytic processing and tissue location of the variant containing a frizzled motif. (PubMed id 14614989)^{1, 2} Elamaa H.... Pihlajaniemi T. (2003)
A polymorphism in the angiogenesis inhibitor, endostatin, in multiple myeloma. (PubMed id 12479859)^{1, 4} Ortega M.M....Lima C.S. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 80781	HGNC: 2195	AceView: SLC19A1	Ensembl:ENSG00000182871	euGenes: HUgn80781
ECgene: COL18A1	Kegg: 80781	H-InvDB: COL18A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for COL18A1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for COL18A1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL18A1

Intellectual Property for COL18A1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for COL18A1 gene:
Search GeneIP for patents involving COL18A1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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ThermoFisher Antibody for COL18A1

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1

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COL18A1 Gene

collagen, type XVIII, alpha 1

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COL18A1 Gene

collagen, type XVIII, alpha 1

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