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COL5A2 Gene(Protein Coding)

Collagen Type V Alpha 2 Chain

GCID:
GC02M189031
GIFtS:
58
Genes Participants
UDN Logo

Aliases for COL5A2 Gene

Aliases for COL5A2 Gene

  • Collagen Type V Alpha 2 Chain 2 3 5
  • AB Collagen 2 3
  • Collagen, Fetal Membrane, A Polypeptide 3
  • Type V Preprocollagen Alpha 2 Chain 3
  • Collagen, Type V, Alpha 2 2
  • Collagen Alpha-2(V) 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 Chain) is a Protein Coding gene. Diseases associated with COL5A2 include Ehlers-Danlos Syndrome, Classic Type and Ehlers-Danlos Syndrome Type Ii. Among its related pathways are Collagen chain trimerization 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 COL2A1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL5A2 Gene

Genomics for COL5A2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for COL5A2 Gene

Enhancers for COL5A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G189275 1.2 Ensembl ENCODE dbSUPER 20.6 -51.1 -51053 1.6 JUN CEBPB NR3C1 CEBPG EP300 ATF2 ZBTB7B JUND ZNF585B CBX5 COL5A2 KRT18P19
GH02G189149 1 ENCODE dbSUPER 20.1 +73.3 73273 5.0 PKNOX1 CEBPB CEBPG DPF2 FOXA1 ZNF217 ZNF707 JUND GATA3 ZNF791 COL5A2 WDR75 MIR3129 GC02M189179 GC02M189180
GH02G189406 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -183.1 -183149 4.3 HDAC1 TBL1XR1 ARNT SIN3A CHAMP1 TCF12 EGR1 GATA2 FOS BCLAF1 WDR75 COL5A2 LOC100420666 LOC101927252 KRT18P19
GH02G189410 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -186.8 -186784 2.3 CTCF CBX3 FUS MAX RAD21 YY1 FOXM1 FOXK2 ELK1 SMC3 COL5A2 LOC100420666 WDR75 LOC101927252 KRT18P19
GH02G189090 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +130.3 130346 8.3 CTCF JUN ZSCAN4 RAD21 RFX5 ZNF316 GATA2 ZNF143 SMC3 RCOR1 COL5A2 WDR75 COL3A1 ENSG00000228073 MIR3606
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL5A2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the COL5A2 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for COL5A2 Gene

Proteins for COL5A2 Gene

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  • 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

Protein Expression for COL5A2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 posLast=10151015, posLast=12621262, and Asn1400
  • Modification sites at PhosphoSitePlus

Other Protein References for COL5A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for COL5A2

No data available for DME Specific Peptides for COL5A2 Gene

Domains & Families for COL5A2 Gene

Gene Families for COL5A2 Gene

HGNC:

Protein Domains for COL5A2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COL5A2 Gene

GenScript: Design optimal peptide antigens:

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

Function for COL5A2 Gene

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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: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

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

CRISPR Products

Inhibitory RNA Products

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Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL5A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 2
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:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005588 collagen type V trimer IMP 9425231
GO:0005615 extracellular space IEA --
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

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:0030198 extracellular matrix organization TAS --
GO:0030199 collagen fibril organization IEA,ISS --
GO:0030574 collagen catabolic process TAS --
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

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  1. Drug
No Compound Related Data Available

Transcripts for COL5A2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for COL5A2 Gene

(2) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(520) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL5A2 Gene

Collagen, type V, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL5A2 Gene

mRNA expression in normal human tissues for COL5A2 Gene
mRNA expression by BioGPS for COL5A2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for COL5A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of COL5A2 Gene:

COL5A2

SOURCE GeneReport for Unigene cluster for COL5A2 Gene:

Hs.445827

Evidence on tissue expression from TISSUES for COL5A2 Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Bone(4.3)
  • Lung(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL5A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
Thorax:
  • aorta
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL5A2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 99.71 (n)
cow
(Bos Taurus)
 Mammalia COL5A2 35
  • 95 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia COL5A2 35
  • 93 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia COL5A2 34 35
  • 90.37 (n)
mouse
(Mus musculus)
 Mammalia Col5a2 34 16 35
  • 89.13 (n)
rat
(Rattus norvegicus)
 Mammalia Col5a2 34
  • 88.49 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia COL5A2 35
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves COL5A2 34 35
  • 80.57 (n)
lizard
(Anolis carolinensis)
 Reptilia COL5A2 35
  • 85 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia col5a2 34
  • 74.47 (n)
zebrafish
(Danio rerio)
 Actinopterygii col5a2a 34
  • 69.46 (n)
COL5A2 (2 of 2) 35
  • 69 (a)
 OneToMany
col5a2b 35
  • 63 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Cg25C 35
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7880 35
  • 51 (a)
 OneToMany
Species where no ortholog for COL5A2 was found in the sources mined by GeneCards:
  • 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

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) [MIM:130000]
VAR_078424 Ehlers-Danlos syndrome, classic type (EDS) [MIM:130000]
rs121912930 Pathogenic 189,043,177(-) TTACT(C/G)GTCTT reference, missense
rs786205103 Pathogenic 189,062,914(-) ATACT(-/AGGGAGC)TCCTG splice-acceptor-variant
rs786205104 Pathogenic 189,061,561(-) TTCAG(G/T)TATGC splice-donor-variant

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

Variant ID Type Subtype PubMed ID
esv1526387 CNV insertion 17803354
esv2721258 CNV deletion 23290073
esv3305663 CNV mobile element insertion 20981092
esv3309072 CNV mobile element insertion 20981092
esv3337890 CNV insertion 20981092
esv3343221 CNV insertion 20981092
esv3593735 CNV loss 21293372
nsv214396 CNV insertion 16902084
nsv3074 CNV deletion 18451855
nsv821859 CNV gain 20364138

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL5A2

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

Disorders for COL5A2 Gene

MalaCards: The human disease database

(12) 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 type ii
  • eds mitis type
type i ehlers-danlos syndrome
  • ehlers-danlos syndrome, type 1
ehlers-danlos syndrome, classic type, col5a2-related
ehlers-danlos syndrome
  • cutis hyperelastica
- 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. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. (PMID: 11940702) Grond-Ginsbach C. … Brandt T. (Neurology 2002) 3 4 22 64
  2. 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 22 64
  3. 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 22 64
  4. 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 22 64
  5. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman K.K. … Jacobsson B. (PLoS ONE 2010) 3 46 64

Products for COL5A2 Gene

  • Cloud-Clone Corp. Antibodies for COL5A2
  • Cloud-Clone Corp. Proteins for COL5A2
  • Cloud-Clone Corp Assay Kits for COL5A2

Sources for COL5A2 Gene

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