Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1290
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type V alpha 2 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL5A2
Synonyms (NCBI Gene) Gene synonyms aliases
EDSC, EDSCL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EDSCL2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q32.2
Summary Summary of gene provided in NCBI Entrez 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 appea
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121912930 C>G Pathogenic Coding sequence variant, missense variant
rs139189200 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs139656817 A>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs140609193 T>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs140952583 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030666 hsa-miR-21-5p Microarray 18591254
MIRT046753 hsa-miR-222-3p CLASH 23622248
MIRT053646 hsa-miR-143-3p Microarray 22942087
MIRT437545 hsa-miR-29a-3p Luciferase reporter assay 22745231
MIRT437552 hsa-miR-29b-3p Luciferase reporter assay 22745231
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001503 Process Ossification IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005576 Component Extracellular region TAS
GO:0005588 Component Collagen type V trimer IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120190 2210 ENSG00000204262
Protein
UniProt ID P05997
Protein name Collagen alpha-2(V) chain
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00093 VWC 41 96 von Willebrand factor type C domain Family
PF01391 Collagen 125 187 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 209 272 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 834 904 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1110 1180 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1170 1232 Collagen triple helix repeat (20 copies) Repeat
PF01410 COLFI 1264 1498 Fibrillar collagen C-terminal domain Family
Sequence
MMANWAEARPLLILIVLLGQFVSIKAQEEDEDEGYGEEIACTQNGQMYLNRDIWKPAPCQ
ICVCDNGAILCDKIECQDVLDCADPVTPPGECCPVC
SQTPGGGNTNFGRGRKGQKGEPGL
VPVVTGIRGRPGPAGPPGSQGPRGERGPKGRPGPRGPQGIDGEPGVPGQPGAPGPPGHPS
HPGPDGL
SRPFSAQMAGLDEKSGLGSQVGLMPGSVGPVGPRGPQGLQGQQGGAGPTGPPG
EPGDPGPMGPIGSRGPEGPPGKPGEDGEPGRN
GNPGEVGFAGSPGARGFPGAPGLPGLKG
HRGHKGLEGPKGEVGAPGSKGEAGPTGPMGAMGPLGPRGMPGERGRLGPQGAPGQRGAHG
MPGKPGPMGPLGIPGSSGFPGNPGMKGEAGPTGARGPEGPQGQRGETGPPGPVGSPGLPG
AIGTDGTPGAKGPTGSPGTSGPPGSAGPPGSPGPQGSTGPQGIRGQPGDPGVPGFKGEAG
PKGEPGPHGIQGPIGPPGEEGKRGPRGDPGTVGPPGPVGERGAPGNRGFPGSDGLPGPKG
AQGERGPVGSSGPKGSQGDPGRPGEPGLPGARGLTGNPGVQGPEGKLGPLGAPGEDGRPG
PPGSIGIRGQPGSMGLPGPKGSSGDPGKPGEAGNAGVPGQRGAPGKDGEVGPSGPVGPPG
LAGERGEQGPPGPTGFQGLPGPPGPPGEGGKPGDQGVPGDPGAVGPLGPRGERGNPGERG
EPGITGLPGEKGMAGGHGPDGPKGSPGPSGTPGDTGPPGLQGMPGERGIAGTPGPKGDRG
GIGEKGAEGTAGNDGARGLPGPLGPPGPAGPTGEKGEPGPRGLVGPPGSRGNPGSRGENG
PTGAVGFAGPQGPDGQPGVKGEPGEPGQKGDAGSPGPQGLAGSPGPHGPNGVPGLKGGRG
TQGP
PGATGFPGSAGRVGPPGPAGAPGPAGPLGEPGKEGPPGLRGDPGSHGRVGDRGPAG
PPGGPGDKGDPGEDGQPGPDGPPGPAGTTGQRGIVGMPGQRGERGMPGLPGPAGTPGKVG
PTGATGDKGPPGPVGPPGSNGPVGEPGPEGPAGNDGTPGRDGAVGERGDRGDPGPAGLPG
SQGAPGTPGPVGAPGDAGQRGDPGSRGPIGPPGRAGKRGLPGPQGPRGDKGDHGDRGDRG
QKGHRGFTGLQGLPGPPGPNGEQGSAGIP
GPFGPRGPPGPVGPSGKEGNPGPLGPIGPPG
VRGSVGEAGPEGPPGEPGPPGPPGPPGHLTAA
LGDIMGHYDESMPDPLPEFTEDQAAPDD
KNKTDPGVHATLKSLSSQIETMRSPDGSKKHPARTCDDLKLCHSAKQSGEYWIDPNQGSV
EDAIKVYCNMETGETCISANPSSVPRKTWWASKSPDNKPVWYGLDMNRGSQFAYGDHQSP
NTAITQMTFLRLLSKEASQNITYICKNSVGYMDDQAKNLKKAVVLKGANDLDIKAEGNIR
FRYIVLQDTCSKRNGNVGKTVFEYRTQNVARLPIIDLAPVDVGGTDQEFGVEIGPVCF
V
Sequence length 1499
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytoskeleton in muscle cells
Protein digestion and absorption
  Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Non-integrin membrane-ECM interactions
ECM proteoglycans
NCAM1 interactions
MET activates PTK2 signaling
Collagen chain trimerization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Aortic aneurysm Aneurysm, Dissecting rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Autoimmune lymphoproliferative disorder Autoimmune Lymphoproliferative Syndrome Type 2B rs17860424, rs112445441, rs121913529, rs121434596, rs80358236, rs606231361, rs606231362, rs121913076, rs606231363, rs121913077, rs28929498, rs121913080, rs267607122, rs606231364, rs606231365
View all (31 more)
9425231
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma ClinVar
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 27513329, 36452120
Adenocarcinoma of Lung Associate 32819300, 34419075, 35238419
Aneurysm Associate 26918470, 31538843
Aortic Dissection Associate 20648054, 28855619
Arnold Chiari Malformation Associate 33974636
Arthritis Rheumatoid Associate 34766472
Autistic Disorder Associate 35964930
Brain Neoplasms Associate 31888563
Breast Neoplasms Associate 34541602, 35741056
Buschke Ollendorff syndrome Associate 22132895