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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 Alpha-2(V) Chain 3
  • Collagen, Type V, Alpha 2 2
  • EDSCL2 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, 2 and Ehlers-Danlos Syndrome, Classic Type, 1. Among its related pathways are ERK Signaling and Focal Adhesion. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for COL5A2 Gene

Promoters and enhancers for COL5A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J189175 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 657.8 +47.0 46985 5.4 CTCF PKNOX1 MAX SIN3A REST RAD21 ATF2 YY1 SP1 POLR2A COL5A2 GC02M189179 GC02M189180 WDR75 LOC100420666 COL3A1 DIRC1 MIR3129
GH02J189440 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.3 -216.1 -216115 2.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B WDR75 COL5A2 LOC101927252 ORMDL1 PMS1 HNRNPCP2 ANKAR LOC100420666
GH02J189226 Enhancer 0.7 ENCODE 650.7 -0.9 -866 0.1 NCOA3 PKNOX1 NEUROD1 SIN3A CTBP1 GATA3 FOSL2 FOS SMARCE1 DPF2 COL5A2 KRT18P19
GH02J189225 Promoter 0.5 EPDnew 650.7 +0.1 102 0.1 COL5A2 GC02M189179 GC02M189180
GH02J189275 Enhancer 1 Ensembl ENCODE dbSUPER 20.6 -51.1 -51053 1.6 JUN CEBPB SIN3A REST CEBPG EP300 SP1 JUND ATF3 POLR2A COL5A2 KRT18P19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL5A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL5A2 gene promoter:
  • CUTL1
  • En-1
  • FOXO1a
  • FOXO1
  • HNF-1
  • HNF-1A
  • STAT3
  • CHOP-10
  • C/EBPalpha
  • Meis-1

Genomic Locations for COL5A2 Gene

Genomic Locations for COL5A2 Gene
chr2:189,031,896-189,225,314
(GRCh38/hg38)
Size:
193,419 bases
Orientation:
Minus strand
chr2:189,896,622-190,044,605
(GRCh37/hg19)
Size:
147,984 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

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=14001400, Asn1262, and Thr1015
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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).
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

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).
GENATLAS Biochemistry:
collagen type V,alpha 2,fibril forming

Phenotypes From GWAS Catalog for COL5A2 Gene

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 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

Clone 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
cytoskeleton 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 IEA --
GO:0005588 collagen type V trimer IMP 9425231
GO:0005615 extracellular space IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL5A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL5A2 Gene

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 ISS,IEA --
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

No Compound Related Data Available

Transcripts for COL5A2 Gene

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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
Regions:
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

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 33
  • 99.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL5A2 34
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL5A2 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL5A2 34 33
  • 90.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Col5a2 16 34 33
  • 89.13 (n)
rat
(Rattus norvegicus)
Mammalia Col5a2 33
  • 88.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL5A2 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL5A2 34 33
  • 80.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL5A2 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col5a2 33
  • 74.47 (n)
zebrafish
(Danio rerio)
Actinopterygii col5a2a 33
  • 69.46 (n)
COL5A2 (2 of 2) 34
  • 69 (a)
OneToMany
col5a2b 34
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7880 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COL5A2: view image

Paralogs for COL5A2 Gene

(13) SIMAP similar genes for COL5A2 Gene using alignment to 3 proteins:

  • CO5A2_HUMAN
  • D3DPH5_HUMAN
  • Q5PR22_HUMAN
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 Variation AA Info Type
rs1008978987 uncertain-significance, Ehlers-Danlos syndrome, classic type 189,068,092(-) G/A coding_sequence_variant, missense_variant
rs10197596 benign, likely-benign, not specified, Ehlers-Danlos syndrome, type 7A 189,039,507(-) T/G coding_sequence_variant, synonymous_variant
rs10208525 benign, likely-benign, not specified, Ehlers-Danlos syndrome, type 7A 189,039,477(-) A/G coding_sequence_variant, synonymous_variant
rs1041868695 uncertain-significance, Ehlers-Danlos syndrome, type 7A 189,049,462(-) A/G intron_variant
rs1051400743 uncertain-significance, not specified, Ehlers-Danlos syndrome, classic type 189,064,576(-) G/A coding_sequence_variant, missense_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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- 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:27656288, ECO:0000269 PubMed:9425231, ECO:0000269 PubMed:9783710}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL5A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. (PMID: 11566270) Välkkilä M … Ala-Kokko L (Matrix biology : journal of the International Society for Matrix Biology 2001) 3 4 22 58
  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 WG (Human molecular genetics 1998) 3 4 22 58
  4. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. (PMID: 9783710) Richards AJ … Burrows NP (Journal of medical genetics 1998) 3 4 22 58
  5. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman KK … Jacobsson B (PloS one 2010) 3 44 58

Products for COL5A2 Gene

Sources for COL5A2 Gene

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