ENSMUSG00000024330


Mus musculus

Features
Gene ID: ENSMUSG00000024330
  
Biological name :Col11a2
  
Synonyms : Col11a2 / Collagen alpha-2(XI) chain / Q64739
  
Possible biological names infered from orthology : collagen type XI alpha 2 chain / P13942
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: B1
Gene start: 34039437
Gene end: 34066685
  
Corresponding Affymetrix probe sets: 10444152 (MoGene1.0st)   1423578_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000109893
Ensembl peptide - ENSMUSP00000084772
Ensembl peptide - ENSMUSP00000109890
Ensembl peptide - ENSMUSP00000115026
Ensembl peptide - ENSMUSP00000122082
NCBI entrez gene - 12815     See in Manteia.
MGI - MGI:88447
RefSeq - XM_006523571
RefSeq - XM_006523564
RefSeq - XM_006523566
RefSeq - XM_006523567
RefSeq - XM_006523568
RefSeq - XM_006523569
RefSeq - XM_006523570
RefSeq - NM_001317722
RefSeq - NM_009926
RefSeq - XM_006523559
RefSeq - XM_006523560
RefSeq - XM_006523561
RefSeq - XM_006523562
RefSeq - XM_006523563
RefSeq Peptide - NP_001304651
RefSeq Peptide - NP_034056
swissprot - I7HPY2
swissprot - Q64739
swissprot - I7HJS8
swissprot - Q3UUU1
Ensembl - ENSMUSG00000024330
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col11a2ENSDARG00000012422Danio rerio
 P13942ENSG00000204248Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Col5a1 / O88207 / Collagen alpha-1(V) chain / P20908* / collagen type V alpha 1 chain*ENSMUSG0000002683770
Q61245 / Col11a1 / Collagen alpha-1(XI) chain / P12107* / collagen type XI alpha 1 chain*ENSMUSG0000002796667
Col5a3 / collagen, type V, alpha 3 / P25940* / collagen type V alpha 3 chain*ENSMUSG0000000409856
Col2a1 / P28481 / Collagen alpha-1(II) chain Collagen alpha-1(II) chain Chondrocalcin / P02458* / collagen type II alpha 1 chain*ENSMUSG0000002248339
Col5a2 / Q3U962 / Collagen alpha-2(V) chain / P05997* / collagen type V alpha 2 chain*ENSMUSG0000002604238
Col3a1 / P08121 / Collagen alpha-1(III) chain / P02461* / collagen type III alpha 1 chain*ENSMUSG0000002604338
Col1a1 / P11087 / Collagen alpha-1(I) chain / P02452* / collagen type I alpha 1 chain*ENSMUSG0000000150637
Q5QNQ9 / Col27a1 / Collagen alpha-1(XXVII) chain / Q8IZC6* / collagen type XXVII alpha 1 chain*ENSMUSG0000004567236
Col1a2 / Q01149 / Collagen alpha-2(I) chain / P08123* / collagen type I alpha 2 chain*ENSMUSG0000002966135
Q30D77 / Col24a1 / Collagen alpha-1(XXIV) chain / Q17RW2* / collagen type XXIV alpha 1 chain*ENSMUSG0000002819734


Protein motifs (from Interpro)
Interpro ID Name
 IPR000885  Fibrillar collagen, C-terminal
 IPR001791  Laminin G domain
 IPR008160  Collagen triple helix repeat
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR016133  Insect cysteine-rich antifreeze protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development ISO
 biological_processGO:0001649 osteoblast differentiation IEA
 biological_processGO:0001894 tissue homeostasis IMP
 biological_processGO:0002062 chondrocyte differentiation IMP
 biological_processGO:0007605 sensory perception of sound ISO
 biological_processGO:0030199 collagen fibril organization ISO
 biological_processGO:0048705 skeletal system morphogenesis IMP
 biological_processGO:0051216 cartilage development ISO
 biological_processGO:0060021 roof of mouth development ISO
 biological_processGO:0060023 soft palate development ISO
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005581 collagen trimer IEA
 molecular_functionGO:0005201 extracellular matrix structural constituent IC
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Non-integrin membrane-ECM interactions
MET activates PTK2 signaling
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
Show

Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0000166 abnormal chondrocyte morphology "anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 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]
Show

Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0003149 abnormal tectorial membrane morphology "malformation, malfunction or absence of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:77634]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0004591 enlarged tectorial membrane "increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0004749 nonsyndromic hearing loss "a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0006397 disorganized long bone epiphyseal plate "a lack of the regular arrangement of the cells or zones of the epiphyseal plate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0006433 abnormal articular cartilage morphology "any structural anomaly of the thin layer of smooth hyaline cartilage located on the joint surfaces of a bone" [ISBN:0-8036-0655-9 "Taber s Cyclopedic Medical Dictionary", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0012546 triangular face "a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia" [MGI:anna]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0030049 prominent forehead "forward prominence of the entire forehead, due to protrusion of the frontal bone; not to be confused with frontal bossing" [HP:0011220]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

  


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






 

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