ENSMUSG00000021669


Mus musculus

Features
Gene ID: ENSMUSG00000021669
  
Biological name :Col4a3bp
  
Synonyms : Col4a3bp / Collagen type IV alpha-3-binding protein / Q9EQG9
  
Possible biological names infered from orthology : Q9Y5P4
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: D1
Gene start: 96542618
Gene end: 96640167
  
Corresponding Affymetrix probe sets: 10406757 (MoGene1.0st)   1420383_a_at (Mouse Genome 430 2.0 Array)   1420384_at (Mouse Genome 430 2.0 Array)   1449847_a_at (Mouse Genome 430 2.0 Array)   1452867_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000076856
Ensembl peptide - ENSMUSP00000105070
Ensembl peptide - ENSMUSP00000136766
NCBI entrez gene - 68018     See in Manteia.
MGI - MGI:1915268
RefSeq - XM_011244694
RefSeq - NM_001164222
RefSeq - NM_023420
RefSeq Peptide - NP_075909
RefSeq Peptide - NP_001157694
swissprot - Q9EQG9
Ensembl - ENSMUSG00000021669
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col4a3bpaENSDARG00000024325Danio rerio
 COL4A3BPENSGALG00000014952Gallus gallus
 Q9Y5P4ENSG00000113163Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80W71 / Plekha8 / Pleckstrin homology domain-containing family A member 8 / Q96JA3* / pleckstrin homology domain containing A8*ENSMUSG0000000522515
Q9ERS4 / Plekha3 / Pleckstrin homology domain-containing family A member 3 / Q9HB20* / pleckstrin homology domain containing A3*ENSMUSG0000000273313


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR002913  START domain
 IPR011993  PH-like domain superfamily
 IPR023393  START-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000902 cell morphogenesis IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0003007 heart morphogenesis IMP
 biological_processGO:0006672 ceramide metabolic process IMP
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0006936 muscle contraction IMP
 biological_processGO:0007029 endoplasmic reticulum organization IMP
 biological_processGO:0007165 signal transduction IMP
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0034976 response to endoplasmic reticulum stress IMP
 biological_processGO:0035621 ER to Golgi ceramide transport ISO
 biological_processGO:0055088 lipid homeostasis IMP
 biological_processGO:0070584 mitochondrion morphogenesis IMP
 biological_processGO:0120012 intermembrane sphingolipid transfer ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm ISO
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0016301 kinase activity IDA
 molecular_functionGO:0070273 phosphatidylinositol-4-phosphate binding ISO
 molecular_functionGO:0097001 ceramide binding ISS
 molecular_functionGO:0120017 intermembrane ceramide transfer activity ISO


Pathways (from Reactome)
Pathway description
Sphingolipid de novo biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000222 decreased neutrophil count "fewer than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Casq2tm1b(KOMP)Wtsi/Casq2+
Genetic Background: C57BL/6N-Casq2tm1b(KOMP)Wtsi/Ucd

 MP:0000223 decreased monocyte count "fewer than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Casq2tm1b(KOMP)Wtsi/Casq2+
Genetic Background: C57BL/6N-Casq2tm1b(KOMP)Wtsi/Ucd

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0000733 abnormal muscle development "anomalous differentiation of muscle tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mecomtm2.1Aspe/Mecomtm2.1Aspe,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129S1/SvImJ * C57BL/6 * CBA

 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 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: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0002237 abnormal nasal cavity morphology "any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0002428 abnormal semicircular canal "anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Casq2tm1b(KOMP)Wtsi/Casq2+
Genetic Background: C57BL/6N-Casq2tm1b(KOMP)Wtsi/Ucd

 MP:0002728 absent tibia "missing the medial and larger of the two bones of the lower leg" [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: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0003078 aphakia "absence of the crystalline lens of the eye" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0004201 fetal growth retardation "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0004269 abnormal optic cup morphology "any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0004599 abnormal vertebral arch morphology "any structural anomaly of the dorsal part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0004612 fusion of vertebral bodies "improper union of the main cylindrical portion of adjacent vertebra ventral to the vertebral canal" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0004613 fusion of vertebral arches "improper union of the dorsal part of adjacent vertebra" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0004646 decreased cervical vertebrae number "reduced number of the seven bony segments of the spine located anterior to the thoracic vertebrae and caudal to the skull" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0006036 abnormal mitochondrial physiology 
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0008772 enlarged heart ventricle "increased average size of the heart ventricles compared to the average for a particular population" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0008922 abnormal cervical rib "alternate location or appearance of a rare supernumerary rib commonly articulating with the seventh cervical vertebrae (above the normal first rib) but not reaching the sternum anteriorly" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0009378 abnormal endoplasmic reticulum morphology "any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells" [GO:0005783]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0009382 abnormal cardiac jelly morphology "any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0010418 perimembraneous ventricular septal defect "abnormal communications between the two lower chambers of the heart, occurring in the membranous septum with defects in the adjacent muscular portion of the septum; it is generally located in the LV outflow tract just below the aortic valve, associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which may partially or completely close the defect; an LV-to-RA shunt may also be associated with this defect" [http://emedicine.medscape.com]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0010420 muscular ventricular septal defect "abnormal communications between the two lower chambers of the heart, involving the muscular septum and often occurring as multiple communications, and includes central muscular or midmuscular, apical, or marginal communications when the defect is along the RV-septal junction; any single defect observed from the LV aspect may have several openings on the RV aspect" [http://emedicine.medscape.com]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0010496 abnormal pectinate muscle morphology "any structural anomaly of the prominent ridges of atrial myocardium located on the inner surface of most of the right atrium and both the right and left auricular regions" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0010572 persistent right dorsal aorta "persistence of the right dorsal aorta after development; the right dorsal aorta normally regresses but when it persists, a double aortic arch develops; if the left dorsal aorta also regresses, a right aortic arch forms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 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: Cdk2ap1tm1Dtw/Cdk2ap1+
Genetic Background: involves: 129S4/SvJae

 MP:0011110 partial preweaning 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 between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0013023 decreased Ly6C high monocyte number "decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues" [MGI:Annie_Speak]
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Allelic Composition: Casq2tm1b(KOMP)Wtsi/Casq2+
Genetic Background: C57BL/6N-Casq2tm1b(KOMP)Wtsi/Ucd

 MP:0013985 abnormal umbilical vein topology "abnormal position of the umbilical vein in relationship to other umbilical cord structures" [MGI:csmith]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0014001 abnormal vertebral artery topology "abnormal position of the first branch of the left and right subclavian arteries that merge to form the single midline basilar artery; branches of the vertebral arteries supply the musculature of the neck" [MGI:csmith]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0014021 heterochrony 
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002688 Prkd1 / Q62101 / protein kinase D1 / Q15139*  / reaction
 ENSMUSG00000024070 Prkd3 / Q8K1Y2 / protein kinase D3 / O94806*  / reaction
 ENSMUSG00000003345 Q8BVP5 / Csnk1g2 / Casein kinase I isoform gamma-2 / P78368* / casein kinase 1 gamma 2*  / reaction
 ENSMUSG00000041187 Prkd2 / Q8BZ03 / protein kinase D2 / Q9BZL6*  / reaction
 ENSMUSG00000054455 Vapb / vesicle-associated membrane protein, associated protein B and C / O95292* / VAMP associated protein B and C*  / reaction / complex
 ENSMUSG00000027784 Ppm1l / Q8BHN0 / Protein phosphatase 1L / Q5SGD2* / protein phosphatase, Mg2+/Mn2+ dependent 1L*  / reaction / complex
 ENSMUSG00000024091 Vapa / Q9WV55 / vesicle-associated membrane protein, associated protein A / Q9P0L0* / VAMP associated protein A*  / reaction / complex






 

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