| Type |
Details |
Score |
| Publication |
| 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 |
| 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 |
| Name: |
C2 calcium-dependent domain containing 3; hearty |
| Allele Type: |
Chemically induced (ENU) |
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| Genotype |
| Symbol: |
C2cd3/C2cd3 |
| Background: |
involves: 129P2/OlaHsd * C3H/He |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| DO Term |
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| Genotype |
| Symbol: |
C2cd3/C2cd3 |
| Background: |
involves: C3H/He * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| Protein Domain |
| 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 |
| Symbol: |
C2cd3/C2cd3 |
| Background: |
involves: 129P2/OlaHsd * C3H/He * C57BL/6 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
2323
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
2130
 |
| Fragment?: |
false |
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1566
 |
| Fragment?: |
true |
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| Publication |
| 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 |
| 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 |
| 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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