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Search results 1 to 100 out of 104 for Cc2d1b

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Categories

Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Gene
200014 | CC2D1B
Type: gene
Organism: human
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Gene
511350 | CC2D1B
Type: gene
Organism: cattle
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Gene
772226 | CC2D1B
Type: gene
Organism: chicken
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Gene
563720 | cc2d1b
Type: gene
Organism: zebrafish
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Gene
715336 | CC2D1B
Type: gene
Organism: macaque, rhesus
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Gene
100489497 | cc2d1b
Type: gene
Organism: frog, western clawed
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Gene
313478 | Cc2d1b
Type: gene
Organism: rat
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Gene
482497 | CC2D1B
Type: gene
Organism: dog, domestic
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Gene
456856 | CC2D1B
Type: gene
Organism: chimpanzee
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Protein Coding Gene
MGI:2443076 | Cc2d1b
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
35592111 | J:325115
 
First Author: Acheta J
Year: 2022
Journal: Front Mol Neurosci
Title: Cc2d1b Contributes to the Regulation of Developmental Myelination in the Central Nervous System.
Volume: 15
Pages: 881571
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Publication
29552027 | J:262467
 
First Author: Zamarbide M
Year: 2018
Journal: Front Genet
Title: Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity.
Volume: 9
Pages: 65
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Publication
26720614 | J:236761
First Author: Drusenheimer N
Year: 2015
Journal: PLoS Genet
Title: The Mammalian Orthologs of Drosophila Lgd, CC2D1A and CC2D1B, Function in the Endocytic Pathway, but Their Individual Loss of Function Does Not Affect Notch Signalling.
Volume: 11
Issue: 12
Pages: e1005749
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Protein Coding Gene
MGP_CAROLIEiJ_G0026271 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0028558 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0028521 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0028468 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0028540 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0028254 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2443076 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0028980 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0027690 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0028223 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0028371 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0028339 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0028472 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0028365 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0029016 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0027416 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0027771 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0028604 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0027240 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_03
Specimen Label: euxassay_009319_03
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_04
Specimen Label: euxassay_009319_04
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_05
Specimen Label: euxassay_009319_05
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_06
Specimen Label: euxassay_009319_06
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_07
Specimen Label: euxassay_009319_07
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_08
Specimen Label: euxassay_009319_08
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_09
Specimen Label: euxassay_009319_09
Detected: true
Specimen Num: 7
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_17
Specimen Label: euxassay_009319_17
Detected: true
Specimen Num: 8
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_18
Specimen Label: euxassay_009319_18
Detected: true
Specimen Num: 9
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_19
Specimen Label: euxassay_009319_19
Detected: true
Specimen Num: 10
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_20
Specimen Label: euxassay_009319_20
Detected: true
Specimen Num: 11
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_21
Specimen Label: euxassay_009319_21
Detected: true
Specimen Num: 12
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679723
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_22
Specimen Label: euxassay_009319_22
Detected: true
Specimen Num: 13
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_04
Specimen Label: euxassay_009319_04
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_05
Specimen Label: euxassay_009319_05
Detected: true
Specimen Num: 3
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_06
Specimen Label: euxassay_009319_06
Detected: true
Specimen Num: 4
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1756923
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_07
Specimen Label: euxassay_009319_07
Detected: true
Specimen Num: 5
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679523
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_08
Specimen Label: euxassay_009319_08
Detected: true
Specimen Num: 6
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679523
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_19
Specimen Label: euxassay_009319_19
Detected: true
Specimen Num: 10
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679823
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_08
Specimen Label: euxassay_009319_08
Detected: true
Specimen Num: 6
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•
GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679823
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_18
Specimen Label: euxassay_009319_18
Detected: true
Specimen Num: 9
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GXD Expression
GXD Expression
 
Probe: MGI:4422968
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1679823
Pattern: Spotted
Stage: TS23
Assay Id: MGI:4823660
Age: embryonic day 14.5
Image: euxassay_009319_19
Specimen Label: euxassay_009319_19
Detected: true
Specimen Num: 10
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Protein
Q7TPN1
Organism: Mus musculus/domesticus
Length: 773  
Fragment?: true
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Publication
30732858 | J:280260
First Author: Zamarbide M
Year: 2019
Journal: Biol Psychiatry
Title: Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability.
Volume: 85
Issue: 9
Pages: 760-768
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Publication
21155902 | J:174464
First Author: Hadjighassem MR
Year: 2011
Journal: Eur J Neurosci
Title: Freud-2/CC2D1B mediates dual repression of the serotonin-1A receptor gene.
Volume: 33
Issue: 2
Pages: 214-23
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Publication
- | J:165965
     
First Author: Mouse Genome Informatics and the Europhenome Mouse Phenotyping Resource
Year: 2010
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from Europhenome
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Publication
- | J:175295
     
First Author: Mouse Genome Informatics and the Wellcome Trust Sanger Institute Mouse Genetics Project (MGP)
Year: 2011
Journal: Database Release
Title: Obtaining and Loading Phenotype Annotations from the Wellcome Trust Sanger Institute (WTSI) Mouse Resources Portal
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Publication
30973865 | J:274872
First Author: Ingham NJ
Year: 2019
Journal: PLoS Biol
Title: Mouse screen reveals multiple new genes underlying mouse and human hearing loss.
Volume: 17
Issue: 4
Pages: e3000194
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
12904583 | J:85162
First Author: Hansen J
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.
Volume: 100
Issue: 17
Pages: 9918-22
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Publication
17967808 | J:152068
First Author: Friedel RH
Year: 2007
Journal: Brief Funct Genomic Proteomic
Title: EUCOMM--the European conditional mouse mutagenesis program.
Volume: 6
Issue: 3
Pages: 180-5
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Publication
12520002 | J:91812
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
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Publication
- | J:148605
     
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
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Publication
18799693 | J:142754
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
16602821 | J:162220
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
14610273 | J:86696
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:68900
     
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
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 Gene 1.0 ST Array Platform
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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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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Publication
27769858 | -
First Author: Deshar R
Year: 2016
Journal: Biochem Biophys Res Commun
Title: CC2D1A and CC2D1B regulate degradation and signaling of EGFR and TLR4.
Volume: 480
Issue: 2
Pages: 280-287
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Protein
H3BKI0
Organism: Mus musculus/domesticus
Length: 126  
Fragment?: true
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Publication
19423080 | -
First Author: Hadjighassem MR
Year: 2009
Journal: Biol Psychiatry
Title: Human Freud-2/CC2D1B: a novel repressor of postsynaptic serotonin-1A receptor expression.
Volume: 66
Issue: 3
Pages: 214-22
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Protein Domain
IPR039725 | CC2D1A/B
Type: Family
Description: This entry includes coiled-coil and C2 domain-containing protein 1A/B (CC2D1A/B, also known as Freud-1/2). CC2D1A is involved in many pathways, including nuclear factor kappaB, PDK1/Akt, cAMP/PKA, Notch and bone morphogenetic protein []. It is a calcium-regulated repressor of serotonine receptor 5-HT1A and dopamine-D2 receptor expression [, ]. CC2D1B binds to the 5-HT1A DRE and represses the human 5-HT1A receptor gene to regulate its expression in non-serotonergic cells and neurons [].CC2D1A and CC2D1B have also been shown to interact with the CHMP4 family of proteins, the major subunit of the ESCRT-III complex. They may regulate degradation and signaling of EGFR and TLR4 [].CC2D1A and CC2D1B share conserved domains, including several DM14 domains that are specific to this protein family, a C-terminal helix-loop-helix domain, and a C2 domain. The CC2D1A C2 domain is thought to be calcium insensitive and it lacks several acidic residues that mediate calcium binding of the PKC C2 domain. In addition, it contains a poly-basic insert that is not present in calcium-dependent C2 domains and may function as a nuclear localization signal []. The CC2D1B C2 domain appears to be essential for its DNA binding and repressor function; it may mediate protein-protein interactions []. Mutations in the CC2D1A gene has been linked to nonsyndromic mental retardation [, ].
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Publication
12917378 | -
First Author: Ou XM
Year: 2003
Journal: J Neurosci
Title: Freud-1: A neuronal calcium-regulated repressor of the 5-HT1A receptor gene.
Volume: 23
Issue: 19
Pages: 7415-25
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Publication
16033914 | J:200890
First Author: Basel-Vanagaite L
Year: 2006
Journal: J Med Genet
Title: The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
Volume: 43
Issue: 3
Pages: 203-10
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Publication
17535813 | J:124603
First Author: Rogaeva A
Year: 2007
Journal: J Biol Chem
Title: Differential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene.
Volume: 282
Issue: 29
Pages: 20897-905
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Publication
17394259 | -
First Author: Rogaeva A
Year: 2007
Journal: J Neurosci Res
Title: The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation.
Volume: 85
Issue: 13
Pages: 2833-8
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Protein Domain
IPR037772 | C2_Freud
Type: Domain
Description: The cc2d1a gene family consists of two homologues, CC2D1A (Freud-1) and CC2D1B (Freud-2). Freud-1 is a calcium-regulated repressor of serotonine receptor 5-HT1A and dopamine-D2 receptor expression [, ]. Mutations in cc2d1a has been linked to nonsyndromic mental retardation [, ].CC2D1A/freud-1 and CC2D1B/freud-2 share conserved domains, including several DM14 domains that are specific to this protein family, a C-terminal helix-loop-helix domain, and a C2 domain. The Freud-1 C2 domain is thought to be calcium insensitive and it lacks several acidic residues that mediate calcium binding of the PKC C2 domain. In addition, it contains a poly-basic insert that is not present in calcium-dependent C2 domains and may function as a nuclear localization signal []. The Freud-1 C2 domain appears to be essential for its DNA binding and repressor function; it may mediate protein-protein interactions [].
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Protein
Q8K1A6
Organism: Mus musculus/domesticus
Length: 943  
Fragment?: false
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