ENSMUSG00000032332


Mus musculus

Features
Gene ID: ENSMUSG00000032332
  
Biological name :Col12a1
  
Synonyms : Col12a1 / Collagen alpha-1(XII) chain / Q60847
  
Possible biological names infered from orthology : collagen type XII alpha 1 chain / Q99715
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: E1
Gene start: 79598991
Gene end: 79718831
  
Corresponding Affymetrix probe sets: 10595211 (MoGene1.0st)   1427391_a_at (Mouse Genome 430 2.0 Array)   1434411_at (Mouse Genome 430 2.0 Array)   1440101_at (Mouse Genome 430 2.0 Array)   1445751_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000123455
Ensembl peptide - ENSMUSP00000071662
Ensembl peptide - ENSMUSP00000112604
NCBI entrez gene - 12816     See in Manteia.
MGI - MGI:88448
RefSeq - XM_006510797
RefSeq - XM_006510800
RefSeq - NM_001290308
RefSeq Peptide - NP_001277237
swissprot - Q60847
swissprot - F6WIM8
swissprot - E9PX70
Ensembl - ENSMUSG00000032332
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col12a1aENSDARG00000078322Danio rerio
 col12a1bENSDARG00000019601Danio rerio
 COL12A1ENSGALG00000015908Gallus gallus
 Q99715ENSG00000111799Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80X19 / Col14a1 / Collagen alpha-1(XIV) chain / Q05707* / collagen type XIV alpha 1 chain*ENSMUSG0000002237127
Col7a1 / Q63870 / Collagen alpha-1(VII) chain / Q02388* / collagen type VII alpha 1 chain*ENSMUSG0000002565016
Q923P0 / Col20a1 / Collagen alpha-1(XX) chain / Q9P218* / collagen type XX alpha 1 chain*ENSMUSG0000001635615
A2AX52 / Col6a4 / Collagen alpha-4(VI) chain ENSMUSG0000003257212
Col6a5 / collagen type VI alpha 5 chain / A8TX70*ENSMUSG0000009134510
Col6a6 / Q8C6K9 / Collagen alpha-6(VI) chain / A6NMZ7* / collagen type VI alpha 6 chain*ENSMUSG0000004371910
Col6a3 / collagen, type VI, alpha 3 / P12111* / collagen type VI alpha 3 chain*ENSMUSG0000004812610
Vwa2 / Q70UZ7 / von Willebrand factor A domain containing 2 / Q5GFL6*ENSMUSG000000250826
Vit / Q8VHI5 / vitrin / Q6UXI7*ENSMUSG000000240764
Coch / Q62507 / Cochlin / O43405*ENSMUSG000000209533


Protein motifs (from Interpro)
Interpro ID Name
 IPR001791  Laminin G domain
 IPR002035  von Willebrand factor, type A
 IPR003961  Fibronectin type III
 IPR008160  Collagen triple helix repeat
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR013783  Immunoglobulin-like fold
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR036116  Fibronectin type III superfamily
 IPR036465  von Willebrand factor A-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0035987 endodermal cell differentiation IEA
 cellular_componentGO:0005576 extracellular region ISO
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000069 kyphoscoliosis "kyphosis combined with scoliosis" [MGI:CML, J:66943]
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Allelic Composition: Hprttm4(CAG-Tbx18*,-Venus)Akis/Y,Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+,Tbx18tm4(cre)Akis/Tbx18+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * NMRI

 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]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000164 abnormal cartilage development "anomalous formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hprttm4(CAG-Tbx18*,-Venus)Akis/Y,Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+,Tbx18tm4(cre)Akis/Tbx18+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * NMRI

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Hprttm4(CAG-Tbx18*,-Venus)Akis/Y,Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+,Tbx18tm4(cre)Akis/Tbx18+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * NMRI

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hprttm4(CAG-Tbx18*,-Venus)Akis/Y,Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+,Tbx18tm4(cre)Akis/Tbx18+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * NMRI

 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: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003795 abnormal bone structure 
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003797 abnormal compact bone morphology "structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004121 abnormal sarcolemma morphology "structural anomaly in the plasma membrane of a muscle fiber that is cabable of conducting electrical impuses" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hprttm4(CAG-Tbx18*,-Venus)Akis/Y,Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+,Tbx18tm4(cre)Akis/Tbx18+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * NMRI

 MP:0004601 abnormal vertebral spinous process "any structural anomaly of the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Col12a1tm1Debi/Col12a1tm1Debi
Genetic Background: Not Specified

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004986 abnormal osteoblast morphology "any structural anomaly of a bone-forming cell, which normally forms an osseous matrix (osteoid) in which it becomes enclosed as an osteocyte" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004991 decreased bone strength "reduced ability of bone to endure the application of force without yielding or breaking" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005006 abnormal osteoblast function "anomalous function of this bone-forming cell, which normally forms an osseous matrix in which it becomes enclosed as an osteocyte " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0008152 decreased diameter of femur "reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Col12a1tm1Debi/Col12a1tm1Debi
Genetic Background: Not Specified

 MP:0010225 abnormal quadriceps morphology "any structural anomaly of the group of four muscles (rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis) which extend down the front of the thigh and are the major extensors of the knee joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col12a1tm1Debi/Col12a1tm1Debi
Genetic Background: Not Specified

 MP:0010239 decreased skeletal muscle weight "less than average skeletal muscle weight" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col12a1tm1Debi/Col12a1tm1Debi
Genetic Background: Not Specified

 MP:0011090 partial perinatal 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 perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0020040 decreased bone ossification "decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0020137 decreased bone mineralization "decrease in the rate at which minerals are deposited into bone" []
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0020378 abnormal cell cytoskeleton morphology "any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm" [GO:0005856, MGI:mberry]
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Allelic Composition: Neto1tm1Mci/Neto1tm1Mci,Neto2tm1Mci/Neto2tm1Mci
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

  


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






 

0 s.

 
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