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This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely r... See more...
Aliases for COL5A3 Gene
Aliases for COL5A3 Gene
External Ids for COL5A3 Gene
- HGNC: 14864
- Entrez Gene: 50509
- Ensembl: ENSG00000080573
- OMIM: 120216
- UniProtKB: P25940
Previous GeneCards Identifiers for COL5A3 Gene
- GC19M010191
- GC19M010293
- GC19M009916
- GC19M010071
- GC19M009650
Summaries for COL5A3 Gene
-
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL5A3 Gene
COL5A3 (Collagen Type V Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL5A3 include Ehlers-Danlos Syndrome and Lactocele. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for COL5A3 Gene
-
Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
Additional gene information for COL5A3 Gene
- HGNC(14864)
- Entrez Gene(50509)
- Ensembl(ENSG00000080573)
- OMIM(120216)
- UniProtKB(P25940)
- Open Targets Platform(ENSG00000080573)
- Search for COL5A3 at DataMed
- Search for COL5A3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL5A3 Gene
Genomics for COL5A3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for COL5A3 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 COL5A3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL5A3
- Top Transcription factor binding sites by QIAGEN in the COL5A3 gene promoter:
-
- AML1a
- ATF
- Bach1
- Bach2
- HEN1
- NRSF form 1
- NRSF form 2
- Sp1
Genomic Locations for COL5A3 Gene
Genomic Locations for COL5A3 Gene
- chr19:9,959,561-10,010,532
- (GRCh38/hg38)
- Size:
- 50,972 bases
- Orientation:
- Minus strand
- chr19:10,070,237-10,121,147
- (GRCh37/hg19)
- Size:
- 50,911 bases
- Orientation:
- Minus strand
Genomic View for COL5A3 Gene
Genes around COL5A3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by HGNC
- 19p13.2 by Entrez Gene
- 19p13.2 by Ensembl
COL5A3 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 COL5A3 Gene
Proteins for COL5A3 Gene
-
Protein details for COL5A3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P25940-CO5A3_HUMAN
- Recommended name:
- Collagen alpha-3(V) chain
- Protein Accession:
- P25940
- Q9NZQ6
Protein attributes for COL5A3 Gene
- Size:
- 1745 amino acids
- Molecular mass:
- 172121 Da
- Quaternary structure:
-
- Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one alpha 2(V), and one alpha 3(V) chains in placenta.
Protein Expression for COL5A3 Gene
Post-translational modifications for COL5A3 Gene
Other Protein References for COL5A3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ COL5A3 Polyclonal Antibody and Immunotag™ COL5A3 Antibody
- SouthernBiotech Goat Anti-Type V Collagen-BIOT and Goat Anti-Type V Collagen-UNLB
- Novus Biologicals Antibodies for COL5A3
- Invitrogen Antibodies for COL5A3 (AFLGC-COL5A3)
- Sino Biological Antibodies for COL5A3
Protein Products
-
OriGene Purified Proteins for COL5A3
- Search Origene for MassSpec and Protein Over-expression Lysates for COL5A3
- Origene Custom Protein Services for COL5A3
- Novus Biologicals proteins for COL5A3
Assay Products
- antibodies-online: Show 1 available COL5A3 Elisa Kits ranked by validation data
- Compare Top COL5A3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for COL5A3 Gene
Domains & Families for COL5A3 Gene
Gene Families for COL5A3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted secreted proteins
Protein Domains for COL5A3 Gene
- InterPro:
- Blocks:
-
- Collagen triple helix repeat
- Collagen helix repeat
- Thrombospondin, N-terminal
- Laminin G
- Fibrillar collagen, C-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for COL5A3 Gene
- GenScript: Design optimal peptide antigens:
-
- Collagen alpha-3(V) chain (CO5A3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P25940- Family:
-
- Belongs to the fibrillar collagen family.
Function for COL5A3 Gene
Molecular function for COL5A3 Gene
- UniProtKB/Swiss-Prot Function:
- Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin.
Phenotypes From GWAS Catalog for COL5A3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005201 | extracellular matrix structural constituent | NAS | 10722718 |
| GO:0005518 | collagen binding | NAS | 10722718 |
| GO:0008201 | heparin binding | IEA | -- |
| GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 27559042 |
| GO:0043394 | proteoglycan binding | IEA | -- |
Phenotypes for COL5A3 Gene
- MGI mutant phenotypes for COL5A3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for COL5A3:
Animal Models for COL5A3 Gene
- MGI Knock Outs for COL5A3:
-
- Col5a3 Col5a3<tm1Dgr>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL5A3 - Select products 50% OFF >
- * COL5A3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL5A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL5A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL5A3
miRNA for COL5A3 Gene
- miRTarBase miRNAs that target COL5A3
-
- hsa-miR-29b-3p (MIRT000098)
- mmu-miR-29b-3p (MIRT004923)
- hsa-miR-204-5p (MIRT005822)
- rno-miR-29b-3p (MIRT007453)
- hsa-miR-323a-5p (MIRT440915)
- hsa-miR-642a-5p (MIRT724408)
- hsa-miR-6723-5p (MIRT724409)
- hsa-miR-20b-3p (MIRT724410)
- hsa-miR-3137 (MIRT724411)
- hsa-miR-1236-3p (MIRT724412)
- hsa-miR-877-3p (MIRT724413)
- hsa-miR-2276-5p (MIRT724414)
- hsa-miR-6892-3p (MIRT724415)
- hsa-miR-2114-5p (MIRT724416)
- hsa-miR-9500 (MIRT724417)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL5A3
- Browse OriGene Inhibitory RNA Products For COL5A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL5A3
Clone Products
- Applied Biological Materials (abm): Clones for COL5A3 - Select products 50% OFF >
- * COL5A3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COL5A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL5A3
Cell Line Products
-
Horizon Cell Lines for COL5A3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COL5A3 Gene
Localization for COL5A3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for COL5A3 Gene
- Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005581 | collagen trimer | IEA | -- |
| GO:0005588 | collagen type V trimer | IEA,NAS | 1571108 |
| GO:0005594 | collagen type IX trimer | IBA | -- |
| GO:0005615 | extracellular space | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL5A3 Gene
Pathways & Interactions for COL5A3 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 COL5A3 Gene
2 BioSystems pathways for COL5A3 Gene
1 KEGG pathway for COL5A3 Gene
15 Qiagen pathways for COL5A3 Gene
- Blood Coagulation Cascade
- ERK Signaling
- FAK1 Signaling
- GnRH Signaling
- ILK Signaling
Interacting Proteins for COL5A3 Gene
GPS-Prot Interaction Network for COL5A3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007160 | cell-matrix adhesion | IEA | -- |
| GO:0030198 | extracellular matrix organization | TAS | -- |
| GO:0030199 | collagen fibril organization | NAS | 10722718 |
| GO:0043588 | skin development | NAS | 10722718 |
No data available for SIGNOR curated interactions for COL5A3 Gene
Drugs & Compounds for COL5A3 Gene
No Compound Related Data Available
Drug Products
- SouthernBiotech Human Type V Collagen-Solution and Human Type V Collagen-Lyophilized
Transcripts for COL5A3 Gene
mRNA/cDNA for COL5A3 Gene
- 1 REFSEQ mRNAs :
- 3 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264828 6207 nts (view in UCSC)
- ENST00000461214 828 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for COL5A3 - Select products 50% OFF >
- * COL5A3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for COL5A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL5A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for COL5A3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL5A3
- Browse OriGene Inhibitory RNA Products For COL5A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL5A3
Clone Products
- Applied Biological Materials (abm): Clones for COL5A3 - Select products 50% OFF >
- * COL5A3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for COL5A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL5A3
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: |
| ExUns: | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ | 50 | ^ | 51 | ^ | 52 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: |
| ExUns: | 53 | ^ | 54 | ^ | 55 | ^ | 56 | ^ | 57 | ^ | 58a | · | 58b | ^ | 59 | ^ | 60 | ^ | 61a | · | 61b | ^ | 62 | ^ | 63 | ^ | 64 | ^ | 65 | ^ | 66 | ^ | 67 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||
| SP2: |
Relevant External Links for COL5A3 Gene
- GeneLoc Exon Structure for
- COL5A3
Expression for COL5A3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- Mature Rod Cells Outer Nuclear Layer
- Cartilage (Muscoskeletal System)
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
This gene is overexpressed in Brain (18.0), Adipocyte (16.1), Lung (8.9), and Bone marrow mesenchymal stem cell (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL5A3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL5A3
SOURCE GeneReport for Unigene cluster for COL5A3 Gene:
Hs.235368Evidence on tissue expression from TISSUES for COL5A3 Gene
- Heart(4.3)
- Liver(4.3)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs for COL5A3
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL5A3 Gene
Orthologs for COL5A3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | COL5A3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | COL5A3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | COL5A3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Col5a3 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Col5a3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | COL5A3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | COL5A3 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | COL5A3 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | col5a3a 31 |
|
OneToMany | |
| col5a3b 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for COL5A3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- 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 Vase (Ciona intestinalis)
- 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for COL5A3 Gene
- ENSEMBL:
- Gene Tree for COL5A3 (if available)
- TreeFam:
- Gene Tree for COL5A3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for COL5A3: view image
Paralogs for COL5A3 Gene
Paralogs for COL5A3 Gene
- COL5A1 5
- COL11A1 5
- COL11A2 5
- COL4A5 5
- COL2A1 5
- COL1A1 5
- COL4A1 5
- COL3A1 5
- COL1A2 5
- COL4A2 5
- COL7A1 5
- COL4A6 5
- COL4A3 5
- COL4A4 5
- COL16A1 5
- COL22A1 5
- COL5A2 5
- COL27A1 5
- COL24A1 5
- COL18A1 5
- COL17A1 5
- COL28A1 5
- COL15A1 5
- COL9A1 5
- COL9A3 5
- COL6A1 5
- COL20A1 5
- COL9A2 5
- COL6A2 5
- COL21A1 5
- COL13A1 5
- COL25A1 5
- COL23A1 5
- COLQ 5
- EMID1 5
- COL26A1 5
- EDA 5
(13) SIMAP similar genes for COL5A3 Gene using alignment to 1 proteins:
- CO5A3_HUMAN
Variants for COL5A3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL5A3 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 714631 | Benign: not provided | 9,980,687(-) | A/G | SYNONYMOUS_VARIANT | |
| 724669 | Likely Benign: not provided | 9,996,111(-) | G/A | SYNONYMOUS_VARIANT | |
| 727368 | Likely Benign: not provided | 9,979,394(-) | C/T | SYNONYMOUS_VARIANT | |
| 768969 | Benign: not provided | 10,005,618(-) | G/A | SYNONYMOUS_VARIANT | |
| 770806 | Benign: not provided | 9,973,784(-) | A/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1171542 | CNV | insertion | 17803354 |
| esv1205344 | CNV | deletion | 17803354 |
| esv1756302 | CNV | deletion | 17803354 |
| esv2406867 | CNV | deletion | 18987734 |
| esv2659051 | CNV | deletion | 23128226 |
| esv2667691 | CNV | deletion | 23128226 |
| esv2718163 | CNV | deletion | 23290073 |
| esv2718164 | CNV | deletion | 23290073 |
| esv2718165 | CNV | deletion | 23290073 |
| esv2718166 | CNV | deletion | 23290073 |
| esv2718167 | CNV | deletion | 23290073 |
| esv3404998 | CNV | insertion | 20981092 |
| esv3449361 | CNV | duplication | 20981092 |
| esv3643646 | CNV | loss | 21293372 |
| nsv1059984 | CNV | gain | 25217958 |
| nsv1072321 | CNV | deletion | 25765185 |
| nsv1131398 | CNV | deletion | 24896259 |
| nsv520683 | CNV | loss | 19592680 |
| nsv833742 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
27.12;
99.81% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for COL5A3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- COL5A3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL5A3 Gene
Disorders for COL5A3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ehlers-danlos syndrome |
|
|
| lactocele |
|
|
Search COL5A3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for COL5A3
No data available for UniProtKB/Swiss-Prot and Genatlas for COL5A3 Gene
Publications for COL5A3 Gene
- The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. (PMID: 10722718) Imamura Y … Greenspan DS (The Journal of biological chemistry 2000) 2 3 4
- Type V Collagen in Health, Disease, and Fibrosis. (PMID: 26910848) Mak KM … Lee DJ (Anatomical record (Hoboken, N.J. : 2007) 2016) 2 3
- Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing. (PMID: 1571108) Mann K (Biological chemistry Hoppe-Seyler 1992) 3 4
- Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3
- The COL5A3 and MMP9 genes interact in eczema susceptibility. (PMID: 29168291) Margaritte-Jeannin P … Dizier MH (Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2018) 3
ExternalLinks
Products for COL5A3 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for COL5A3
- Search Origene for MassSpec and Protein Over-expression Lysates for COL5A3
- Origene Custom Protein Services for COL5A3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for COL5A3
- Browse OriGene Inhibitory RNA Products For COL5A3
- OriGene qPCR primer pairs for COL5A3
- OriGene CRISPR knockouts for COL5A3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For COL5A3
- Sino Biological Human cDNA Clone for COL5A3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for COL5A3
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
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- Novus Biologicals Antibodies for COL5A3
- Novus Biologicals proteins for COL5A3
- Browse Antibodies
- Browse Peptides and Proteins
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- Invitrogen Antibodies for COL5A3 (AFLGC-COL5A3)
- VectorBuilder Custom and pre-made DNA vectors for COL5A3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for COL5A3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for COL5A3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for COL5A3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for COL5A3
- antibodies-online: Show 12 available COL5A3 Antibodies ranked by validation data
- Compare Top COL5A3 Antibodies
- antibodies-online: Show 1 available COL5A3 Elisa Kits ranked by validation data
- Compare Top COL5A3 Elisa Kits
- Quality Products:
- antibodies-online: Search results for available COL5A3 related products ranked by validation data
- Horizon Cell Lines for COL5A3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for COL5A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for COL5A3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for COL5A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL5A3
Sources for COL5A3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB