ENSMUSG00000047248


Mus musculus

Features
Gene ID: ENSMUSG00000047248
  
Biological name :C2cd3
  
Synonyms : C2cd3 / C2 domain-containing protein 3 / Q52KB6
  
Possible biological names infered from orthology : C2 calcium dependent domain containing 3 / Q4AC94
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: E2
Gene start: 100372233
Gene end: 100470152
  
Corresponding Affymetrix probe sets: 10555339 (MoGene1.0st)   1454977_at (Mouse Genome 430 2.0 Array)   1459644_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000095859
Ensembl peptide - ENSMUSP00000139071
Ensembl peptide - ENSMUSP00000118864
Ensembl peptide - ENSMUSP00000113728
Ensembl peptide - ENSMUSP00000113360
Ensembl peptide - ENSMUSP00000062637
NCBI entrez gene - 277939     See in Manteia.
MGI - MGI:2142166
RefSeq - XM_006507908
RefSeq - XM_011241828
RefSeq - XM_011241827
RefSeq - XM_006507910
RefSeq - NM_001017985
RefSeq Peptide - NP_001017985
swissprot - Q52KB6
swissprot - V9GXB2
swissprot - E9Q526
swissprot - D3Z4D9
swissprot - D3Z640
swissprot - D6RH58
Ensembl - ENSMUSG00000047248
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 c2cd3ENSDARG00000074137Danio rerio
 C2CD3ENSGALG00000017314Gallus gallus
 C2CD3ENSG00000168014Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0007420 brain development IMP
 biological_processGO:0008589 regulation of smoothened signaling pathway IMP
 biological_processGO:0016485 protein processing IMP
 biological_processGO:0021915 neural tube development IMP
 biological_processGO:0021997 neural plate axis specification IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030162 regulation of proteolysis IDA
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0061511 centriole elongation IDA
 biological_processGO:0071539 protein localization to centrosome IEA
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole ISS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0034451 centriolar satellite IEA
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Anchoring of the basal body to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3Gt(AG0177)Wtsi/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He

 MP:0000925 abnormal floor plate morphology "malformation or absence of a transient group of neuroepithelial cells located at the ventral midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3Gt(AG0177)Wtsi/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He

 MP:0001704 abnormal dorsal-ventral axis patterning "anomaly in the development or formation of the axis that runs from the front to the back surface of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3Gt(AG0177)Wtsi/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3hty/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He * C57BL/6

 MP:0003885 abnormal rostro-caudal body axis extension "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3hty/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He * C57BL/6

 MP:0004132 absent embryonic cilia "absence of cilia on the cells of the embryonic node " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3Gt(AG0177)Wtsi/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He

 MP:0004203 abnormal cranial flexure "any structural abnormality or absence of the sharp, ventrally concave bend in the developing midbrain of the embryo" [J:10730, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

 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]
Show

Allelic Composition: Aicdatm1Hon/Aicdatm1Hon,Ightm3Mnz/Igh+,Myctm37Mnz/Myc+
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: C2cd3Gt(AG0177)Wtsi/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He

Allelic Composition: C2cd3hty/C2cd3Gt(AG0177)Wtsi
Genetic Background: involves: 129P2/OlaHsd * C3H/He * C57BL/6

  


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






 

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