ENSMUSG00000026042


Mus musculus

Features
Gene ID: ENSMUSG00000026042
  
Biological name :Col5a2
  
Synonyms : Col5a2 / Collagen alpha-2(V) chain / Q3U962
  
Possible biological names infered from orthology : collagen type V alpha 2 chain / P05997
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C1.1
Gene start: 45374321
Gene end: 45503282
  
Corresponding Affymetrix probe sets: 10354309 (MoGene1.0st)   1422437_at (Mouse Genome 430 2.0 Array)   1450625_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000083620
NCBI entrez gene - 12832     See in Manteia.
MGI - MGI:88458
RefSeq - NM_007737
RefSeq Peptide - NP_031763
swissprot - Q3U962
Ensembl - ENSMUSG00000026042
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col5a2aENSDARG00000031678Danio rerio
 col5a2bENSDARG00000024847Danio rerio
 COL5A2ENSGALG00000031112Gallus gallus
 COL5A2ENSG00000204262Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Col2a1 / P28481 / Collagen alpha-1(II) chain Collagen alpha-1(II) chain Chondrocalcin / P02458* / collagen type II alpha 1 chain*ENSMUSG0000002248364
Col1a1 / P11087 / Collagen alpha-1(I) chain / P02452* / collagen type I alpha 1 chain*ENSMUSG0000000150659
Col3a1 / P08121 / Collagen alpha-1(III) chain / P02461* / collagen type III alpha 1 chain*ENSMUSG0000002604354
Col1a2 / Q01149 / Collagen alpha-2(I) chain / P08123* / collagen type I alpha 2 chain*ENSMUSG0000002966151
Q61245 / Col11a1 / Collagen alpha-1(XI) chain / P12107* / collagen type XI alpha 1 chain*ENSMUSG0000002796643
Col5a1 / O88207 / Collagen alpha-1(V) chain / P20908* / collagen type V alpha 1 chain*ENSMUSG0000002683743
Q64739 / Col11a2 / Collagen alpha-2(XI) chain / P13942* / collagen type XI alpha 2 chain*ENSMUSG0000002433041
Col5a3 / collagen, type V, alpha 3 / P25940* / collagen type V alpha 3 chain*ENSMUSG0000000409841
Q5QNQ9 / Col27a1 / Collagen alpha-1(XXVII) chain / Q8IZC6* / collagen type XXVII alpha 1 chain*ENSMUSG0000004567236
Q30D77 / Col24a1 / Collagen alpha-1(XXIV) chain / Q17RW2* / collagen type XXIV alpha 1 chain*ENSMUSG0000002819735


Protein motifs (from Interpro)
Interpro ID Name
 IPR000885  Fibrillar collagen, C-terminal
 IPR001007  VWFC domain
 IPR008160  Collagen triple helix repeat
 IPR014716  Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1
 IPR016133  Insect cysteine-rich antifreeze protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development IMP
 biological_processGO:0001503 ossification IEA
 biological_processGO:0030199 collagen fibril organization IEA
 biological_processGO:0043588 skin development IEA
 biological_processGO:0048592 eye morphogenesis IEA
 biological_processGO:0071230 cellular response to amino acid stimulus IDA
 biological_processGO:1903225 negative regulation of endodermal cell differentiation IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005588 collagen type V trimer IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046332 SMAD binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000162 lordosis "anteriorly convex curvature of the spine, "saddle back" " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62022]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000255 vasculature congestion "obstruction of the normal flux of blood within the blood vessel network" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0001209 spontaneous skin ulceration "unpredictable appearance of skin lesions, usually with inflammation" [J:65302]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001244 thin dermal layer "reduced thickness of the dermis" [J:65030]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001312 abnormal cornea morphology "malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001385 pup cannibalization "the killing and eating of newborn mice by the mother; can be a normal response if the mother does not recognize the pups as her own" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col5a2tm1.2Dgr/Col5a2tm1.2Dgr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Col5a2tm1.2Dgr/Col5a2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

 MP:0003089 reduced skin tensile strength "reduction in the normal maximum tension the skin can withstand without tearing" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:48068]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Col5a2tm1.2Dgr/Col5a2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

 MP:0003092 reduced corneal stroma thickness "reduced width of the lamellated connective tissue layer of the cornea" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:81616]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0003705 abnormal hypodermis morphology "malformed or atypical condition of the innermost and thickest layer of the skin composed of loose connective tissue containing adipoctyes" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Afg3l1tm1.1Arte/Afg3l1tm1.1Arte,Afg3l2tm1Arte/Afg3l2tm1Arte,Gt(ROSA)26Sortm1Lrsn/Gt(ROSA)26Sor+,Tg(Plp1-cre/ERT)3Pop/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N

 MP:0004127 thick hypodermis "increase in the width of the innermost and thickest layer of the skin composed of loose connective tissue containing adipoctyes" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0005501 abnormal skin physiology "atypical function of the membranous protective covering of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Col5a2tm1.2Dgr/Col5a2tm1.2Dgr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

 MP:0008438 abnormal cutaneous collagen fibril morphology "any structural anomaly of the connective tissue bundles in the extracellular matrix of skin tissue that are composed of collagen, and play a role in skin strength and elasticity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Col5a2tm1.2Dgr/Col5a2tm1.2Dgr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

Allelic Composition: Col5a2tm1.2Dgr/Col5a2+
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Col5a2tm1.2Dgr/Col5a2tm1.2Dgr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * DBA/2

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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