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Aliases for COL5A2 Gene

Aliases for COL5A2 Gene

  • Collagen Type V Alpha 2 2 3
  • Collagen, Type V, Alpha 2 2 3 5
  • AB Collagen 2 3
  • Collagen, Fetal Membrane, A Polypeptide 3
  • Type V Preprocollagen Alpha 2 Chain 3
  • EDSC 3

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, Classic Type and Ehlers-Danlos Syndrome, Classic Type, Col5a2-Related. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. 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

Enhancers for COL5A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COL5A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL5A2 Gene

Chromosome:
2
Start:
189,031,896 bp from pter
End:
189,225,314 bp from pter
Size:
193,419 bases
Orientation:
Minus strand

Genomic View for COL5A2 Gene

Genes around COL5A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL5A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Thr 1015, Asn 1262, and Asn 1400
  • Modification sites at PhosphoSitePlus

Other Protein References for COL5A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COL5A2 Gene

Domains & Families for COL5A2 Gene

Gene Families for COL5A2 Gene

Suggested Antigen Peptide Sequences for COL5A2 Gene

Graphical View of Domain Structure for InterPro Entry

P05997

UniProtKB/Swiss-Prot:

CO5A2_HUMAN :
  • 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).
  • Belongs to the fibrillar collagen family.
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).
genes like me logo Genes that share phenotypes with COL5A2: view

Human Phenotype Ontology for COL5A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL5A2 Gene

MGI Knock Outs for COL5A2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
endoplasmic reticulum 4
nucleus 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with COL5A2: view

Pathways & Interactions for COL5A2 Gene

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

Pathways by source for COL5A2 Gene

Gene Ontology (GO) - Biological Process for COL5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
GO:0030199 collagen fibril organization IEA,ISS --
GO:0030574 collagen catabolic process TAS --
GO:0043588 skin development IEA,ISS --
GO:0048592 eye morphogenesis IMP 16431952
genes like me logo Genes that share ontologies with COL5A2: view

No data available for SIGNOR curated interactions for COL5A2 Gene

Drugs & Compounds for COL5A2 Gene

No Compound Related Data Available

Transcripts for COL5A2 Gene

mRNA/cDNA for COL5A2 Gene

Unigene Clusters for COL5A2 Gene

Collagen, type V, alpha 2:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for COL5A2 Gene

This gene is overexpressed in Amniocyte (35.8) and Bone marrow mesenchymal stem cell (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with COL5A2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia COL5A2 35
  • 99.71 (n)
  • 99.87 (a)
COL5A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col5a2 35
  • 88.49 (n)
  • 94.26 (a)
cow
(Bos Taurus)
Mammalia COL5A2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL5A2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL5A2 36
  • 88 (a)
OneToOne
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 col5a2a 35
  • 69.46 (n)
  • 74.25 (a)
COL5A2 (2 of 2) 36
  • 69 (a)
OneToMany
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

(13) 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
VAR_013588 Ehlers-Danlos syndrome, classic type (EDS)
rs35830636 - 189,068,038(-) CTGGT(C/T)CTCAG reference, missense
rs6434313 - 189,051,384(+) GTCCT(C/G/T)GATCT reference, missense
rs35852101 - 189,066,418(-) AACAG(C/T)TGGTC reference, missense
rs116298748 - 189,053,896(+) TTACA(A/G)GATTG reference, missense

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

Variation tolerance for COL5A2 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL5A2 Gene

Human Gene Mutation Database (HGMD)
COL5A2

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

Disorders for COL5A2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for COL5A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, classic type
  • ehlers-danlos syndrome, classic
ehlers-danlos syndrome, classic type, col5a2-related
ehlers-danlos syndrome
  • cutis hyperelastica
type i ehlers-danlos syndrome
  • ehlers-danlos syndrome, type 1
larsen-like syndrome
  • larsen-like multiple joint dislocation syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

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

Relevant External Links for COL5A2

Genetic Association Database (GAD)
COL5A2
Human Genome Epidemiology (HuGE) Navigator
COL5A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL5A2
genes like me logo Genes that share disorders with COL5A2: view

No data available for Genatlas for COL5A2 Gene

Publications for COL5A2 Gene

  1. 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 67
  2. Downregulation of extracellular matrix-related gene clusters during osteogenic differentiation of human bone marrow- and adipose tissue-derived stromal cells. (PMID: 17666000) Egusa H. … Nishimura I. (Tissue Eng. 2007) 3 23
  3. 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
  4. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. (PMID: 11940702) Grond-Ginsbach C. … Brandt T. (Neurology 2002) 3 23
  5. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. (PMID: 12145749) Takahara K. … Greenspan D.S. (Am. J. Hum. Genet. 2002) 3 23

Products for COL5A2 Gene

Sources for COL5A2 Gene

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