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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] See more...
Aliases for COL8A1 Gene
Aliases for COL8A1 Gene
External Ids for COL8A1 Gene
- HGNC: 2215
- Entrez Gene: 1295
- Ensembl: ENSG00000144810
- OMIM: 120251
- UniProtKB: P27658
Previous HGNC Symbols for COL8A1 Gene
- C3orf7
Previous GeneCards Identifiers for COL8A1 Gene
- GC03P095979
- GC03M098636
- GC03P100638
- GC03P100678
- GC03P100840
- GC03P099357
- GC03P096725
Summaries for COL8A1 Gene
-
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]
GeneCards Summary for COL8A1 Gene
COL8A1 (Collagen Type VIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL8A1 include Corneal Endothelial Dystrophy and Corneal Dystrophy. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL8A2.
UniProtKB/Swiss-Prot Summary for COL8A1 Gene
-
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.
-
Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.
Additional gene information for COL8A1 Gene
- Monarch Initiative
- Search for COL8A1 at DataMed
- Search for COL8A1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL8A1 Gene
Genomics for COL8A1 Gene
GeneHancer (GH) Regulatory Elements for COL8A1 Gene
Promoters and enhancers for COL8A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around COL8A1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL8A1
- Top Transcription factor binding sites by QIAGEN in the COL8A1 gene promoter:
-
- AREB6
- E47
- Evi-1
- FOXD3
- p53
- RSRFC4
- SREBP-1a
- SREBP-1b
- SREBP-1c
Genomic Locations for COL8A1 Gene
Genomic Locations for COL8A1 Gene
- chr3:99,638,475-99,799,226
- (GRCh38/hg38)
- Size:
- 160,752 bases
- Orientation:
- Plus strand
- chr3:99,357,319-99,518,070
- (GRCh37/hg19)
- Size:
- 160,752 bases
- Orientation:
- Plus strand
Genomic View for COL8A1 Gene
Genes around COL8A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q12.1 by HGNC
- 3q12.1 by Entrez Gene
- 3q12.1 by Ensembl
COL8A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for COL8A1 Gene
Proteins for COL8A1 Gene
-
Protein details for COL8A1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P27658-CO8A1_HUMAN
- Recommended name:
- Collagen alpha-1(VIII) chain
- Protein Accession:
- P27658
- D3DN42
- Q53XI6
- Q96D07
Protein attributes for COL8A1 Gene
- Size:
- 744 amino acids
- Molecular mass:
- 73364 Da
- Quaternary structure:
-
- Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrahedron stabilized by central interacting C-terminal NC1 trimers.
- 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.
Protein Expression for COL8A1 Gene
Post-translational modifications for COL8A1 Gene
- Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
- Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1 domain fragment, vastatin.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for COL8A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Collagen VIII a1 Antibody
- Creative Diagnostics Anti-COL8A1 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for COL8A1
- Novus Biologicals Antibodies for COL8A1
-
Abcam antibodies for COL8A1
- Invitrogen Antibodies for COL8A1 (AFLGC-COL8A1)
Protein Products
- G Biosciences Human COL8A1/Collagen alpha-1(VIII) chain, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for COL8A1
- Origene Custom Protein Services for COL8A1
- antibodies-online: Show 13 available COL8A1 Proteins ranked by validation data
- Compare Top COL8A1 Proteins
-
Quality Products:
-
ProSci Proteins for COL8A1
-
Abcam proteins for COL8A1
Assay Products
- Aviva Systems Biology COL8A1 ELISA Kit (Human) (OKCD00308)
- Novus Biologicals ELISA Kits for COL8A1
No data available for DME Specific Peptides for COL8A1 Gene
Domains & Families for COL8A1 Gene
Gene Families for COL8A1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted secreted proteins
Protein Domains for COL8A1 Gene
- Blocks:
-
- Complement C1q protein
- Collagen triple helix repeat
- Collagen helix repeat
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for COL8A1 Gene
- GenScript: Design optimal peptide antigens:
-
- Endothelial collagen (CO8A1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COL8A1 Gene
Function for COL8A1 Gene
Molecular function for COL8A1 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot Function:
- Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during vascular injury, in atherosclerosis and in diabetes.
- GENATLAS Biochemistry:
- collagen type VIII,alpha 1,short chain,component of Descemet membrane
Phenotypes From GWAS Catalog for COL8A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
| GO:0005515 | protein binding | IPI,IEA | 16189514 |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 20551380 |
Phenotypes for COL8A1 Gene
- MGI mutant phenotypes for COL8A1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COL8A1:
-
- Increased shRNA abundance (Z-score > 2)
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance with PLX4720
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance
- Decreased IL-8 secretion
- Increased replication of vaccinia virus (VACV)
Animal Models for COL8A1 Gene
- MGI Knock Outs for COL8A1:
-
- Col8a1 Col8a1<tm1Bjro>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL8A1 - Select products 50% OFF >
- * COL8A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * COL8A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for COL8A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL8A1
- genomics-online: gRNA clones - Search for available COL8A1 gRNA products
- Overview of 129 available COL8A1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL8A1
miRNA for COL8A1 Gene
- miRTarBase miRNAs that target COL8A1
-
- hsa-mir-6516-5p (MIRT461352)
- hsa-mir-4266 (MIRT461353)
- hsa-mir-455-3p (MIRT461354)
- hsa-mir-6086 (MIRT461355)
- hsa-mir-4451 (MIRT461356)
- hsa-mir-377-5p (MIRT461357)
- hsa-mir-98-5p (MIRT461358)
- hsa-mir-4458 (MIRT461359)
- hsa-mir-4500 (MIRT461360)
- hsa-let-7i-5p (MIRT461361)
- hsa-let-7g-5p (MIRT461362)
- hsa-let-7f-5p (MIRT461363)
- hsa-let-7e-5p (MIRT461364)
- hsa-let-7d-5p (MIRT461365)
- hsa-let-7c-5p (MIRT461366)
- hsa-let-7b-5p (MIRT461367)
- hsa-let-7a-5p (MIRT461368)
- hsa-mir-6831-5p (MIRT461369)
- hsa-mir-3927-3p (MIRT461370)
- hsa-mir-4779 (MIRT461371)
- hsa-mir-4695-5p (MIRT461372)
- hsa-mir-1277-5p (MIRT510123)
- hsa-mir-190a-3p (MIRT510124)
- hsa-mir-1295b-3p (MIRT510125)
- hsa-mir-5011-5p (MIRT510126)
- hsa-mir-4789-3p (MIRT510127)
- hsa-mir-8485 (MIRT519131)
- hsa-mir-3186-3p (MIRT612015)
- hsa-mir-3939 (MIRT612016)
- hsa-mir-6514-3p (MIRT675654)
- hsa-mir-7977 (MIRT675655)
- hsa-mir-24-3p (MIRT675656)
- hsa-mir-4284 (MIRT675657)
- hsa-mir-4743-5p (MIRT675658)
- hsa-mir-564 (MIRT675659)
- hsa-mir-6847-3p (MIRT675660)
- hsa-mir-6811-3p (MIRT675661)
- hsa-mir-214-5p (MIRT675662)
- hsa-mir-383-3p (MIRT675663)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL8A1
- Browse OriGene Inhibitory RNA Products For COL8A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL8A1
- genomics-online: shRNA clones - Search for available COL8A1 shRNA products
- Overview of 129 available COL8A1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for COL8A1 - Select products 50% OFF >
- * COL8A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * COL8A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for COL8A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL8A1
Cell Line Products
- ESI BIO PureStem ES-210, Ecto-ntu Progenitor for COL8A1
-
Horizon Cell Lines for COL8A1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COL8A1 Gene
Localization for COL8A1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL8A1 Gene
- Secreted, extracellular space, extracellular matrix, basement membrane.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005591 | collagen type VIII trimer | TAS | 2029894 |
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005615 | extracellular space | IBA | 21873635 |
Pathways & Interactions for COL8A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
| 2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
| 3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
| 4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
| 5 | Degradation of the extracellular matrix | ||
Pathways by source for COL8A1 Gene
15 Qiagen pathways for COL8A1 Gene
- Blood Coagulation Cascade
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for COL8A1 Gene
Selected Interacting proteins:
P27658-CO8A1_HUMAN
ENSP00000261037
for COL8A1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for COL8A1
| 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:0035987 | endodermal cell differentiation | IEP | 23154389 |
No data available for SIGNOR curated interactions for COL8A1 Gene
Drugs & Compounds for COL8A1 Gene
No Compound Related Data Available
Drug Products
- G Biosciences Human COL8A1/Collagen alpha-1(VIII) chain, Lyophilized
Transcripts for COL8A1 Gene
mRNA/cDNA for COL8A1 Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261037 5705 bps (ENST00000261037.7)
- ENST00000273342 3029 bps (ENST00000273342.8)
- ENST00000452013 659 bps (ENST00000452013.5)
- ENST00000462604 190 bps (ENST00000462604.1)
- ENST00000463753 2964 bps (ENST00000463753.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL8A1 - Select products 50% OFF >
- * COL8A1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * COL8A1 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for COL8A1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL8A1
- genomics-online: gRNA clones - Search for available COL8A1 gRNA products
- Overview of 129 available COL8A1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL8A1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL8A1
- Browse OriGene Inhibitory RNA Products For COL8A1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL8A1
- genomics-online: shRNA clones - Search for available COL8A1 shRNA products
- Overview of 129 available COL8A1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for COL8A1 - Select products 50% OFF >
- * COL8A1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * COL8A1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for COL8A1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL8A1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||
| SP6: | - | - | - | - |
Relevant External Links for COL8A1 Gene
- GeneLoc Exon Structure for
- COL8A1
Expression for COL8A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
- Limb (Muscoskeletal System)
- Brain (Nervous System)
- Umbilical Cord (Extraembryonic Tissues)
- Cartilage (Muscoskeletal System)
- Endothelium (Cardiovascular System)
-
Lung (Respiratory System)
- Chondrocytes Tracheal Cartilage
- Tracheal Cartilage
-
Peripheral Nervous System (Nervous System)
- Pro-myelinating Schwann Cells Peripheral Nerve Domain
- Immature Schwann Cells Peripheral Nerve Domain
- Blood (Hematopoietic System)
- Mesenchymal Stem Cells
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Gut Tube (Gastrointestinal Tract)
- Heart (Cardiovascular System)
- Dermis (Integumentary System)
- Fibroblasts
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Eye (Sensory Organs)
- NULL (Uncategorized)
- Endoderm (Gastrulation Derivatives)
-
Thyroid (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for COL8A1 Gene
This gene is overexpressed in Artery - Tibial (x10.1), Artery - Aorta (x9.9), and Artery - Coronary (x8.9).
This gene is overexpressed in Bone marrow mesenchymal stem cell (44.9) and Amniocyte (16.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL8A1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL8A1
SOURCE GeneReport for Unigene cluster for COL8A1 Gene:
Hs.654548mRNA Expression by UniProt/SwissProt for COL8A1 Gene:
P27658-CO8A1_HUMAN
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.
Evidence on tissue expression from TISSUES for COL8A1 Gene
- Lung(4.3)
- Bone(3.1)
Primer Products
-
OriGene qPCR primer pairs for COL8A1
-
OriGene qPCR primer pairs and template standards for COL8A1
- genomics-online: primer clones - Search for available COL8A1 Primer products
- Overview of 129 available COL8A1 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL8A1 Gene
Orthologs for COL8A1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | COL8A1 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | COL8A1 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | COL8A1 31 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | COL8A1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Col8a1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Col8a1 17 31 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | COL8A1 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | COL8A1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | COL8A1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | col8a1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12569 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | col8a1a 31 |
|
OneToMany | |
| col8a1b 31 30 |
|
OneToMany | |||
| wufb18b08 30 |
|
- Species where no ortholog for COL8A1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- fruit fly (Drosophila melanogaster)
- 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)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- worm (Caenorhabditis elegans)
Evolution for COL8A1 Gene
- ENSEMBL:
- Gene Tree for COL8A1 (if available)
- TreeFam:
- Gene Tree for COL8A1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL8A1: view image
Paralogs for COL8A1 Gene
Paralogs for COL8A1 Gene
(3) SIMAP similar genes for COL8A1 Gene using alignment to 2 proteins:
- CO8A1_HUMAN
- C9JTN9_HUMAN
Variants for COL8A1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL8A1 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs13081855 | Not Provided: not provided | 99,762,695(+) | G/T | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2658441 | CNV | deletion | 23128226 |
| esv2660038 | CNV | deletion | 23128226 |
| esv2666929 | CNV | deletion | 23128226 |
| esv3597151 | CNV | gain | 21293372 |
| esv3597154 | CNV | loss | 21293372 |
| esv3597155 | CNV | loss | 21293372 |
| esv3597157 | CNV | loss | 21293372 |
| nsv1151786 | CNV | duplication | 26484159 |
| nsv477338 | CNV | novel sequence insertion | 20440878 |
| nsv478220 | CNV | novel sequence insertion | 20440878 |
| nsv508231 | CNV | deletion | 20534489 |
| nsv822193 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.39;
27.42% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL8A1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- COL8A1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL8A1 Gene
Disorders for COL8A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal endothelial dystrophy |
|
|
| corneal dystrophy |
|
|
| refractive error |
|
|
| corneal dystrophy, posterior polymorphous, 1 |
|
|
| keratoconus |
|
|
Search COL8A1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for COL8A1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for COL8A1 Gene
Publications for COL8A1 Gene
- The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. (PMID: 2029894) Muragaki Y … Ninomiya Y (European journal of biochemistry 1991) 2 3 4 23 54
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
- Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). (PMID: 20385826) Neale BM … Seddon JM (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41 54
- Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. (PMID: 21139683) Desronvil T … Wiggs JL (Molecular vision 2010) 3 41 54
ExternalLinks
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Sources for COL8A1 Gene
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