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Search results 101 to 114 out of 114 for C2cd3

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Type Details Score
Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Allele
C2cd3<Gt(AG0177)Wtsi> | MGI:3836403
Name: C2 calcium-dependent domain containing 3; gene trap AG0177, Wellcome Trust Sanger Institute
Allele Type: Gene trapped
Attribute String: Null/knockout, Reporter
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Allele
C2cd3<hty> | MGI:3836402
 
Name: C2 calcium-dependent domain containing 3; hearty
Allele Type: Chemically induced (ENU)
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Genotype
Genotype
Symbol: C2cd3/C2cd3
Background: involves: 129P2/OlaHsd * C3H/He
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0060958 | orofaciodigital syndrome XIV
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Genotype
Genotype
Symbol: C2cd3/C2cd3
Background: involves: C3H/He * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Protein Domain
IPR037775 | C2_C2CD3
Type: Domain
Description: C2cd3 is a novel C2 domain-containing protein specific to vertebrates. C2cd3 functions in regulator of cilia formation, Hedgehog signaling, and mouse embryonic development []. Mutations in C2cd3 mice resulted in lethality in some cases and exencephaly, a twisted body axis, and pericardial edema in others []. It is required for centriole elongation []. Mutations in the human C2cd3 gene cause Orofaciodigital syndrome 14, which is characterised by malformations of the face, oral cavity, and digits []. It plays an important part in centriolar distal appendage assembly and ciliary vesicle docking in mammals []. C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins. Most C2 domain proteins are either signal transduction enzymes that contain a single C2 domain, such as protein kinase C, or membrane trafficking proteins which contain at least two C2 domains, such as synaptotagmin 1. However, there are a few exceptions to this including RIM isoforms and some splice variants of piccolo/aczonin and intersectin which only have a single C2 domain. C2 domains with a calcium binding region have negatively charged residues, primarily aspartates, that serve as ligands for calcium ions [, , , ].
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Genotype
Genotype
Symbol: C2cd3/C2cd3
Background: involves: 129P2/OlaHsd * C3H/He * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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Protein
Q52KB6
Organism: Mus musculus/domesticus
Length: 2323  
Fragment?: false
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Protein
E9Q526
Organism: Mus musculus/domesticus
Length: 2130  
Fragment?: false
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Protein
D3Z640
Organism: Mus musculus/domesticus
Length: 1566  
Fragment?: true
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Publication
8771209 | -
First Author: Ponting CP
Year: 1996
Journal: Protein Sci
Title: Extending the C2 domain family: C2s in PKCs delta, epsilon, eta, theta, phospholipases, GAPs, and perforin.
Volume: 5
Issue: 1
Pages: 162-6
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Publication
9632630 | -
First Author: Rizo J
Year: 1998
Journal: J Biol Chem
Title: C2-domains, structure and function of a universal Ca2+-binding domain.
Volume: 273
Issue: 26
Pages: 15879-82
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Publication
8976547 | -
First Author: Nalefski EA
Year: 1996
Journal: Protein Sci
Title: The C2 domain calcium-binding motif: structural and functional diversity.
Volume: 5
Issue: 12
Pages: 2375-90
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