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Aliases for COL5A2 Gene

Aliases for COL5A2 Gene

  • Collagen, Type V, Alpha 2 2 3
  • AB Collagen 2

External Ids for COL5A2 Gene

Previous GeneCards Identifiers for COL5A2 Gene

  • GC02U990016
  • GC02M188580
  • GC02M189861
  • GC02M190100
  • GC02M190101
  • GC02M189722
  • GC02M189604
  • GC02M181756

Summaries for COL5A2 Gene

Entrez Gene Summary for COL5A2 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 associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL5A2 Gene

COL5A2 (Collagen, Type V, Alpha 2) is a Protein Coding gene. Diseases associated with COL5A2 include ehlers-danlos syndrome, type i and ehlers-danlos syndrome, classic type, col5a2-related. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and SMAD binding. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL5A2 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. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity).

Gene Wiki entry for COL5A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL5A2 Gene

Genomics for COL5A2 Gene

Regulatory Elements for COL5A2 Gene

Genomic Location for COL5A2 Gene

Start:
189,031,896 bp from pter
End:
189,179,879 bp from pter
Size:
147,984 bases
Orientation:
Minus strand

Genomic View for COL5A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL5A2 Gene

Proteins for COL5A2 Gene

  • Protein details for COL5A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05997-CO5A2_HUMAN
    Recommended name:
    Collagen alpha-2(V) chain
    Protein Accession:
    P05997
    Secondary Accessions:
    • P78440
    • Q13908
    • Q53WR4
    • Q59GR4
    • Q6LDJ5
    • Q7KZ55
    • Q86XF6
    • Q96QB0
    • Q96QB3

    Protein attributes for COL5A2 Gene

    Size:
    1499 amino acids
    Molecular mass:
    144910 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
    SequenceCaution:
    • Sequence=AAH43613.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAY24185.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAD92282.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL5A2 Gene

neXtProt entry for COL5A2 Gene

Proteomics data for COL5A2 Gene at MOPED

Post-translational modifications for COL5A2 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Probably 3-hydroxylated on Pro-919 and Pro-1156 by LEPREL1.
  • Glycosylation at Thr1015, Asn1262, and Asn1400
  • Modification sites at PhosphoSitePlus

Other Protein References for COL5A2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COL5A2 Gene

Domains for COL5A2 Gene

Gene Families for COL5A2 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL5A2 Gene

Graphical View of Domain Structure for InterPro Entry

P05997

UniProtKB/Swiss-Prot:

CO5A2_HUMAN :
  • P05997
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 VWFC domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL5A2: view

Function for COL5A2 Gene

Molecular function for COL5A2 Gene

GENATLAS Biochemistry: collagen type V,alpha 2,fibril forming
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. Type V collagen is a key determinant in the assembly of tissue-specific matrices (By similarity).

Gene Ontology (GO) - Molecular Function for COL5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding --
GO:0046332 SMAD binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with COL5A2: view
genes like me logo Genes that share phenotypes with COL5A2: view

Animal Models for COL5A2 Gene

MGI Knock Outs for COL5A2:

Animal Model Products

CRISPR Products

miRNA for COL5A2 Gene

miRTarBase miRNAs that target COL5A2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL5A2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for COL5A2 Gene

Localization for COL5A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL5A2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL5A2 Gene COMPARTMENTS Subcellular localization image for COL5A2 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005588 collagen type V trimer IMP 9425231
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix NAS 17666000
genes like me logo Genes that share ontologies with COL5A2: view

Pathways for COL5A2 Gene

genes like me logo Genes that share pathways with COL5A2: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for COL5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001503 ossification IEA --
GO:0007411 axon guidance TAS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL5A2: view

Transcripts for COL5A2 Gene

mRNA/cDNA for COL5A2 Gene

Unigene Clusters for COL5A2 Gene

Collagen, type V, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL5A2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for COL5A2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL5A2 Gene

No ASD Table

Relevant External Links for COL5A2 Gene

GeneLoc Exon Structure for
COL5A2
ECgene alternative splicing isoforms for
COL5A2

Expression for COL5A2 Gene

mRNA expression in normal human tissues for COL5A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL5A2 Gene

SOURCE GeneReport for Unigene cluster for COL5A2 Gene Hs.445827

genes like me logo Genes that share expressions with COL5A2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL5A2 Gene

Orthologs for COL5A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL5A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL5A2 35
  • 99.71 (n)
  • 99.87 (a)
COL5A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL5A2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL5A2 35
  • 90.37 (n)
  • 95.93 (a)
COL5A2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col5a2 35
  • 89.13 (n)
  • 94.79 (a)
Col5a2 16
Col5a2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL5A2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL5A2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col5a2 35
  • 88.49 (n)
  • 94.26 (a)
chicken
(Gallus gallus)
Aves COL5A2 35
  • 80.57 (n)
  • 89.76 (a)
COL5A2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL5A2 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col5a2 35
  • 74.47 (n)
  • 82.08 (a)
zebrafish
(Danio rerio)
Actinopterygii COL5A2 (2 of 2) 36
  • 69 (a)
OneToMany
col5a2a 35
  • 69.46 (n)
  • 74.25 (a)
col5a2b 36
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 36
  • 51 (a)
OneToMany
Species with no ortholog for COL5A2:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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 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 COL5A2 Gene

ENSEMBL:
Gene Tree for COL5A2 (if available)
TreeFam:
Gene Tree for COL5A2 (if available)

Paralogs for COL5A2 Gene

Selected SIMAP similar genes for COL5A2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with COL5A2: view

Variants for COL5A2 Gene

Sequence variations from dbSNP and Humsavar for COL5A2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs7586 -- 189,033,772(-) TCTCC(A/G)TTTTC utr-variant-3-prime
rs11186 -- 189,032,668(+) AAAGT(A/C)TTGAG utr-variant-3-prime
rs12886 -- 189,032,670(+) AGTAT(C/T)GAGAC utr-variant-3-prime
rs13914 -- 189,032,905(+) AATAC(C/T)TTTTT utr-variant-3-prime
rs15930 -- 189,033,822(-) CCAAT(G/T)ACAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for COL5A2 Gene

Variant ID Type Subtype PubMed ID
nsv875610 CNV Loss 21882294
nsv821859 CNV Gain 20364138
nsv3074 CNV Loss 18451855
esv269940 CNV Insertion 20981092
esv273345 CNV Insertion 20981092
nsv214396 CNV Insertion 16902084
esv1526387 CNV Insertion 17803354
esv2721258 CNV Deletion 23290073
nsv875613 CNV Loss 21882294

Relevant External Links for COL5A2 Gene

HapMap Linkage Disequilibrium report
COL5A2
Human Gene Mutation Database (HGMD)
COL5A2
Locus Specific Mutation Databases (LSDB)
COL5A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL5A2 Gene

Disorders for COL5A2 Gene

(1) OMIM Diseases for COL5A2 Gene (120190)

UniProtKB/Swiss-Prot

CO5A2_HUMAN
  • Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269 PubMed:9425231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. {ECO:0000269 PubMed:9783710}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for COL5A2 Gene

(2) Novoseek inferred disease relationships for COL5A2 Gene

Disease -log(P) Hits PubMed IDs
ehlers-danlos syndrome, type i 94.7 1
ehlers-danlos syndrome 91.4 1

Relevant External Links for COL5A2

GeneTests
COL5A2
GeneReviews
COL5A2
Genetic Association Database (GAD)
COL5A2
Human Genome Epidemiology (HuGE) Navigator
COL5A2
genes like me logo Genes that share disorders with COL5A2: view

Publications for COL5A2 Gene

  1. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. (PMID: 9425231) Michalickova K. … Cole W.G. (Hum. Mol. Genet. 1998) 3 4 23
  2. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. (PMID: 9783710) Richards A.J. … Burrows N.P. (J. Med. Genet. 1998) 3 4 23
  3. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. (PMID: 11566270) Valkkila M. … Ala-Kokko L. (Matrix Biol. 2001) 3 4 23
  4. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. (PMID: 11940702) Grond-Ginsbach C. … Brandt T. (Neurology 2002) 3 4 23
  5. Structural abnormalities of the cornea and lid resulting from collagen V mutations. (PMID: 16431952) Segev F. … Birk D.E. (Invest. Ophthalmol. Vis. Sci. 2006) 3 23

Products for COL5A2 Gene

Sources for COL5A2 Gene

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