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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

COL8A1 Gene

protein-coding GIFtS: 56
GCID: GC03P099357

collagen, type VIII, alpha 1

(Previous name: chromosome 3 open reading frame 7 )
(Previous symbol: C3orf7)

Explore 20 diseases affiliated with
COL8A1 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Collagen, Type VIII, Alpha 1¹ ²		Cell Proliferation-Inducing Protein 41²
C3orf7¹ ² ³		Collagen Alpha-1(VIII) Chain²
Endothelial Collagen² ³		Collagen VIII, Alpha-1 Polypeptide²
MGC9568¹		Smooth Muscle Cell-Expressed And Macrophage Conditioned Medium-Induced Protein Smag-64²
Chromosome 3 Open Reading Frame 7¹

External Ids:	HGNC: 2215¹	Entrez Gene: 1295²	Ensembl: ENSG00000144810⁷	OMIM: 120251⁵	UniProtKB: P27658³

Export aliases for COL8A1 gene to outside databases

Previous GC identifers: GC03P095979 GC03M098636 GC03P100638 GC03P100678 GC03P100840 GC03P096725

(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 COL8A1:

This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a

major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a

homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed.

(provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: CO8A1_HUMAN, P27658

Function: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement

membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and

proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall

integrity and structure, in particular in atherogenesis

Function: Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation

and causes cell apoptosis

Gene Wiki entry for COL8A1 (Collagen, type VIII, 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)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the COL8A1 gene promoter:
p53 SREBP-1c FOXD3 Evi-1 E47 SREBP-1b AREB6 SREBP-1a RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL8A1 promoter sequence

Search SABiosciences Chromatin IP Primers for COL8A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL8A1

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

Entrez Gene cytogenetic band: 3q12.3 Ensembl cytogenetic band: 3q12.1 HGNC cytogenetic band: 3q11.1-q13.2

COL8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL8A1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P099357: view genomic region (about GC identifiers)

Start:	99,357,319 bp from pter	End:	99,518,070 bp from pter
Size:	160,752 bases	Orientation:	plus strand

(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: CO8A1_HUMAN, P27658 (See protein sequence)

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

Size: 744 amino acids; 73364 Da

Subunit: Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a

tetrhedron stabilized by central interacting C-terminal NC1 trimers

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane

Miscellaneous: Four consecutive Gly-Pro-Pro triplets are present at the C-terminus of the triple-helical region. These

may provide the high thermal stability of this region

Secondary accessions: D3DN42 Q53XI6 Q96D07

Explore the universe of human proteins at neXtProt for COL8A1: NX_P27658

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

Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1 domain

fragment, vastatin¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P27658

COL8A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001841.2 NP_065084.2

ENSEMBL proteins:

ENSP00000261037 ENSP00000387589 ENSP00000273342

Reactome Protein details: P27658
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005591	collagen type VIII	TAS	2029894
GO:0005604	basement membrane	IEA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

COL8A1 for ontologies About GeneDecksing

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

COL8A1 for domains About GeneDecksing

3 InterPro domains/families:

IPR008983 Tumour_necrosis_fac-like_dom

IPR008160 Collagen

IPR001073 C1q

Graphical View of Domain Structure for InterPro Entry P27658

ProtoNet protein and cluster: P27658

3 Blocks protein families:

IPB001073 Complement C1q protein

IPB008160 Collagen triple helix repeat

IPB008161 Collagen helix repeat

UniProtKB/Swiss-Prot: CO8A1_HUMAN, P27658

Similarity: Contains 1 C1q 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: CO8A1_HUMAN, P27658

Function: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement

membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and

proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall

integrity and structure, in particular in atherogenesis

Function: Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation

and causes cell apoptosis

Induction: Up-regulated during vascular injury, in atherosclerosis and in diabetes

Genatlas biochemistry entry for COL8A1:

collagen type VIII,alpha 1,short chain,component of Descemet membrane

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL8A1

Animal Models:
Mouse knock-out Col8a1^tm1Bjro for COL8A1
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Col8a1):

vision/eye

COL8A1 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 - 5/7 super-pathways (see all 7) 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

Gelatin degradation by MMP19

Gelatin degradation by MMP19

1.00

Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 13

0.64

Pathway sources
See GeneCards unified pathways
Show all pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL8A1 (see all 15)

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

5/9 Reactome Pathways for COL8A1 (see all 9)

	Secretion of collagens
	Assembly of collagen fibrils and other multimeric structures
	Collagen formation
	Degradation of collagen
	Gelatin degradation by MMP19

COL8A1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for COL8A1

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

5/50 Interacting proteins for COL8A1 (P27658^{2, 3} ENSP00000261037⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 50)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBQLN4	Q9NRR5²^,³, ENSP00000357292⁴	MINT-2857747 I2D: score=3 STRING: ENSP00000357292
KLHL12	Q53G59³, ENSP00000356230⁴	I2D: score=4 STRING: ENSP00000356230
COL8A2	P25067³, ENSP00000305913⁴	I2D: score=3 STRING: ENSP00000305913
EFEMP2	O95967³, ENSP00000309953⁴	I2D: score=3 STRING: ENSP00000309953
ITGA1	P56199³, ENSP00000282588⁴	I2D: score=1 STRING: ENSP00000282588

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001525	angiogenesis	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0010811	positive regulation of cell-substrate adhesion	IEA	--
GO:0030198	extracellular matrix organization	TAS	--
GO:0048593	camera-type eye morphogenesis	IEA	--

COL8A1 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 COL8A1
Search CenterWatch for drugs/clinical trials and news about COL8A1 / CO8A1

(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,
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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 COL8A1 gene (2 alternative transcripts):

NM_001850.4 NM_020351.3

Unigene Clusters for COL8A1:

Collagen, type VIII, alpha 1

Hs.654548 [show with all ESTs], Hs.740617 [show with all ESTs]

Unigene Representative Sequences: NM_001850, AF170702

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

ENST00000261037(uc003dtg.1) ENST00000463753 ENST00000452013 ENST00000483969

ENST00000474648(uc010hpe.1) ENST00000462604 ENST00000273342(uc003dth.1 uc003dti.1)

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL8A1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL8A1

Additional cDNA sequence:

AF170702.1 AK311449.1

7 DOTS entries:

DT.445854 DT.102838378 DT.445134 DT.100786134 DT.120914798 DT.438864 DT.448615

24/183 AceView cDNA sequences (see all 183):

CA435356 AA452460 CA446946 AA599446 W25429 AI753122 BX504907 NM_020351

AW044376 BQ694782 AA670046 CA441754 BT009917 CD678830 AA703926 BU615582

BQ014631 AF170702 AI753797 AI336598 AI754642 H89055 AA283763 AI470587

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for COL8A1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	·	7d
SP1:									-		-
SP2:
SP3:							-		-		-
SP4:							-				-
SP5:

ECgene alternative splicing isoforms for COL8A1

(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

COL8A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAAACAAA

About this image

COL8A1 expression in embryonic tissues and stem cells

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

10/20 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 20)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Floor Plate

Floor Plate Cells

Neural Ectoderm

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Bone

Endochondral Facial Bones

Bone

Bone

Brain

Brain

Heart

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 8 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Definitive endoderm-like cells (Generation of mesend...)

Cardiomyocyte-like cells (Spontaneous differen...)

See COL8A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COL8A1

SOURCE GeneReport for Unigene clusters: Hs.654548 Hs.740617

UniProtKB/Swiss-Prot: CO8A1_HUMAN, P27658

Tissue specificity: Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and

venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers

around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in

the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells,

and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in

Descemet's membrane. Specifically expressed in peritoneal fibroblasts and mesothelial cells

SABiosciences Expression via Pathway-Focused PCR Array including COL8A1:

Extracellular Matrix & Adhesion Molecules in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL8A1

(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 COL8A1 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	COL8A1¹	collagen, type VIII, alpha 1	75.09(n) 80.3(a)		418378 XM_416597.3 XP_416597.1
lizard (Anolis carolinensis)	Reptilia	COL8A1⁶	--	77(a)	1 ↔ 1	3(174890318-174893134)
African clawed frog (Xenopus laevis)	Amphibia	Xl.12569²	Xenopus laevis transcribed sequence with moderate similarity to protein refNP_001841.2 (H.sapiens) alpha 1 type VIII collagen precursor; collagen VIII, alpha-1 polypeptide; endothelial collagen [Homo sapiens] less	72.77(n)		CF285777.1
zebrafish (Danio rerio)	Actinopterygii	wufb18b08²	Transcribed sequence with moderate similarity to protein refNP_001841.2 (H.sapiens) alpha 1 type VIII collagen precursor; collagen VIII, alpha-1 polypeptide; endothelial collagen [Homo sapiens] less	75.41(n)		57038907
worm (Caenorhabditis elegans)	Secernentea	dpy-5⁶ col-109⁶ (see all 11)	COLlagen family member (col-109) (see all 11)	29(a) 28(a) (see all 11)	possible ortholog possible ortholog (see all 11)	I(5432161-5433059) IV(1817044-1820252)

ENSEMBL Gene Tree for COL8A1 (if available)
TreeFam Gene Tree for COL8A1 (if available)

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

Paralogs for COL8A1 gene

C1QL3² COL8A2² C1QL2² C1QTNF9² C1QTNF5² OTOL1² C1QB² COL10A1²

C1QTNF3² C1QTNF9B² C1QA² C1QL1² C1QTNF7² C1QTNF2² C1QC² C1QL4²

ADIPOQ²

6 SIMAP similar genes for COL8A1 using alignment to 2 protein entries: CO8A1_HUMAN (see all proteins):

COL8A2 COL10A1 ADIPOQ C1QB C1QL4 COL28A1

COL8A1 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

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192669304^1,2		--	99355441(+)	`CCGGGC/TACATG`	2	--	us2k¹		0	--	--	--	--
rs114372715^1,2	F,	--	99355707(+)	`AAGAGG/AAGGGG`	2	--	us2k¹		1		WA	118
rs201820838^1,2		--	99355730(+)	`GCGAC-/AATTTG`	2	--	us2k¹		0	--	--	--	--
rs113035843^1,2		--	99355732(+)	`CGACAC/TTTGGC`	2	--	us2k¹		1		CSA	2
rs150539715^1,2		--	99355777(+)	`GTGGCG/TAGTGC`	2	--	us2k¹		0	--	--	--	--
rs75484708^1,2		--	99355872(+)	`AACAGA/GGAAAT`	2	--	us2k¹		1		EA	120
rs3755600^1,2	C,F,H,	--	99355890(-)	`TGAAAC/GTTTCG`	2	--	us2k¹		7		NS EA WA NA	772
rs139493464^1,2		--	99355946(+)	`TTCTCC/TTGGAG`	2	--	us2k¹		0	--	--	--	--
rs115857825^1,2		--	99356097(+)	`TTTAAA/TCCCTT`	2	--	us2k¹		0	--	--	--	--
rs111571743^1,2	C,	--	99356123(+)	`AAATT-/AAAAAA`	2	--	us2k¹		1		CSA	2

HapMap Linkage Disequilibrium report for COL8A1 (99357319 - 99518070 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COL8A1: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL8A1

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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.)
About This Section

COL8A1 for disorders           About GeneDecksing

OMIM gene information: 120251    OMIM disorders: --

20 diseases for COL8A1:    About MalaCards

open-angle glaucoma schmid metaphyseal chondrodysplasia metaphyseal chondrodysplasia fuchs' endothelial dystrophy

primary open angle glaucoma age related macular degeneration corneal dystrophy macular degeneration

chondrodysplasia glaucoma keratoconus nephropathy

choroiditis peritonitis breast carcinoma ataxia

carcinoma hepatitis posterior polymorphous corneal dystrophy atherosclerosis

1 disease from the University of Copenhagen DISEASES database for COL8A1:

Fuchs' endothelial dystrophy

2 Novoseek disease relationships for COL8A1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
corneal dystrophy	83.8	2	16936088 (2)
tumors	0	1	14735469 (1)

Human Genome Epidemiology (HuGE) Navigator: COL8A1 (7 documents)

Export disorders for COL8A1 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)
About This Section

PubMed articles for COL8A1 gene, integrated from 9 sources (see all 33):
(articles sorted by number of sources associating them with COL8A1)

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world of online information

The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. (PubMed id 2029894)^{1, 2, 3, 9} Muragaki Y.... Ninomiya Y. (1991)
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)
No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. (PubMed id 16936088)^{1, 9} Aldave A.J....Yellore V.S. (2006)
Human mast cells produce type VIII collagen in vivo. (PubMed id 7734329)^{2, 9} Ruger B....Neale T.J. (1994)
Distribution of COL8A2 and COL8A1 gene variants in Ca ucasian primary open angle glaucoma patients with thin central corneal thicknes s. (PubMed id 21139683)¹ Desronvil T....Wiggs J.L. (2010)
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). (PubMed id 20385826)¹ Neale B.M....Seddon J.M. (2010)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)
Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)¹ Talmud P.J.... . (2009)
Collagen type VIII expression in human diabetic nephropathy. (PubMed id 17888087)² Gerth J.... Wolf G. (2007)

(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)
About This Section

Entrez Gene: 1295	HGNC: 2215	AceView: COL8A1	Ensembl:ENSG00000144810	euGenes: HUgn1295
ECgene: COL8A1	H-InvDB: COL8A1

(According to HUGE)
About This Section

(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 COL8A1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for COL8A1 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 COL8A1 gene:
Search GeneIP for patents involving COL8A1

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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COL8A1 Gene

collagen, type VIII, alpha 1

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COL8A1 Gene

collagen, type VIII, alpha 1

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