| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
zebrafish |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Dana H |
| Year: |
2020 |
| Journal: |
Neuromolecular Med |
| Title: |
Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism. |
| Volume: |
22 |
| Issue: |
2 |
| Pages: |
239-249 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sener EF |
| Year: |
2023 |
| Journal: |
Prog Neuropsychopharmacol Biol Psychiatry |
| Title: |
Heterozygous Cc2d1a mice show sex-dependent changes in the Beclin-1/p62 ratio with impaired prefrontal cortex and hippocampal autophagy. |
| Volume: |
125 |
|
| Pages: |
110764 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Oaks AW |
| Year: |
2017 |
| Journal: |
Cereb Cortex |
| Title: |
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. |
| Volume: |
27 |
| Issue: |
2 |
| Pages: |
1670-1685 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yang CY |
| Year: |
2019 |
| Journal: |
J Neurosci |
| Title: |
Conditional Deletion of CC2D1A Reduces Hippocampal Synaptic Plasticity and Impairs Cognitive Function through Rac1 Hyperactivation. |
| Volume: |
39 |
| Issue: |
25 |
| Pages: |
4959-4975 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zhao M |
| Year: |
2011 |
| Journal: |
J Neurophysiol |
| Title: |
Cc2d1a, a C2 domain containing protein linked to nonsyndromic mental retardation, controls functional maturation of central synapses. |
| Volume: |
105 |
| Issue: |
4 |
| Pages: |
1506-15 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Pond HL |
| Year: |
2021 |
| Journal: |
J Neurosci Res |
| Title: |
Digging behavior discrimination test to probe burrowing and exploratory digging in male and female mice. |
| Volume: |
99 |
| Issue: |
9 |
| Pages: |
2046-2058 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Al-Tawashi A |
| Year: |
2012 |
| Journal: |
J Biol Chem |
| Title: |
Protein implicated in nonsyndromic mental retardation regulates protein kinase A (PKA) activity. |
| Volume: |
287 |
| Issue: |
18 |
| Pages: |
14644-58 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus caroli |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus pahari |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus spretus |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ozkul Y |
| Year: |
2020 |
| Journal: |
Sci Rep |
| Title: |
A heritable profile of six miRNAs in autistic patients and mouse models. |
| Volume: |
10 |
| Issue: |
1 |
| Pages: |
9011 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Chen KR |
| Year: |
2012 |
| Journal: |
J Biol Chem |
| Title: |
TBK1-associated protein in endolysosomes (TAPE)/CC2D1A is a key regulator linking RIG-I-like receptors to antiviral immunity. |
| Volume: |
287 |
| Issue: |
38 |
| Pages: |
32216-21 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Chen KR |
| Year: |
2024 |
| Journal: |
Sci Adv |
| Title: |
Endosomes serve as signaling platforms for RIG-I ubiquitination and activation. |
| Volume: |
10 |
| Issue: |
45 |
| Pages: |
eadq0660 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Vahid-Ansari F |
| Year: |
2024 |
| Journal: |
J Neurosci |
| Title: |
Chronic Desipramine Reverses Deficits in Cell Activity, Norepinephrine Innervation, and Anxiety-Depression Phenotypes in Fluoxetine-Resistant cF1ko Mice. |
| Volume: |
44 |
| Issue: |
3 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Vahid-Ansari F |
| Year: |
2024 |
| Journal: |
Neuropharmacology |
| Title: |
Rapid reorganization of serotonin projections and antidepressant response to 5-HT1A-biased agonist NLX-101 in fluoxetine-resistant cF1ko mice. |
| Volume: |
261 |
|
| Pages: |
110132 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3271120 |
| Pattern: |
Widespread |
| Stage: |
TS20 |
| Assay Id: |
MGI:5615481 |
| Age: |
embryonic day 12.0 |
|
|
| Specimen Label: |
E12 |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3271124 |
| Pattern: |
Not Specified |
| Stage: |
TS24 |
| Assay Id: |
MGI:5615481 |
| Age: |
embryonic day 16.0 |
|
| Note: |
Expression is particularly prominent in this region. |
| Specimen Label: |
E16 |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3284524 |
| Pattern: |
Not Specified |
| Stage: |
TS24 |
| Assay Id: |
MGI:5615481 |
| Age: |
embryonic day 16.0 |
|
| Note: |
Expression is particularly prominent in this region. |
| Specimen Label: |
E16 |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Strong |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3284527 |
| Pattern: |
Not Specified |
| Stage: |
TS27 |
| Assay Id: |
MGI:5615481 |
| Age: |
postnatal day 3 |
|
| Note: |
Expression is particularly prominent in this region. |
| Specimen Label: |
P3 |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Strong |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3277027 |
| Pattern: |
Not Specified |
| Stage: |
TS27 |
| Assay Id: |
MGI:5615481 |
| Age: |
postnatal day 3 |
|
| Note: |
Expression is particularly prominent in this region. |
| Specimen Label: |
P3 |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1754720 |
| Pattern: |
Widespread |
| Stage: |
TS20 |
| Assay Id: |
MGI:5615481 |
| Age: |
embryonic day 12.0 |
|
|
| Specimen Label: |
E12 |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Strong |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3521127 |
| Pattern: |
Not Specified |
| Stage: |
TS27 |
| Assay Id: |
MGI:5615481 |
| Age: |
postnatal day 3 |
|
| Note: |
Expression is particularly prominent in this region. |
| Specimen Label: |
P3 |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3266520 |
| Pattern: |
Not Specified |
| Stage: |
TS20 |
| Assay Id: |
MGI:5615481 |
| Age: |
embryonic day 12.0 |
|
|
| Specimen Label: |
E12 |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1689424 |
| Pattern: |
Widespread |
| Stage: |
TS24 |
| Assay Id: |
MGI:5615481 |
| Age: |
embryonic day 16.0 |
|
|
| Specimen Label: |
E16 |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1689428 |
| Pattern: |
Widespread |
| Stage: |
TS28 |
| Assay Id: |
MGI:5615481 |
| Age: |
postnatal adult |
|
| Note: |
Expression appears restricted mostly to neurons. |
| Specimen Label: |
Adult |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:5615482 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2015-02-12 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:1689427 |
| Pattern: |
Widespread |
| Stage: |
TS27 |
| Assay Id: |
MGI:5615481 |
| Age: |
postnatal day 3 |
|
|
| Specimen Label: |
P3 |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Vahid-Ansari F |
| Year: |
2017 |
| Journal: |
J Neurosci |
| Title: |
Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior. |
| Volume: |
37 |
| Issue: |
49 |
| Pages: |
11967-11978 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
MGC Data curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
University of California, Davis |
| Year: |
2010 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the KOMP project by the University of California, Davis |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2001 |
|
| Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
|
| Title: |
Data Curation Using Mouse Genome Assembly |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lennon G |
| Year: |
1999 |
| Journal: |
Database Download |
| Title: |
WashU-HHMI Mouse EST Project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2003 |
|
| Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GemPharmatech |
| Year: |
2020 |
|
| Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Cyagen Biosciences Inc. |
| Year: |
2022 |
|
| Title: |
Cyagen Biosciences Website. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
| First Author: |
MGI Genome Annotation Group and UniGene Staff |
| Year: |
2015 |
| Journal: |
Database Download |
| Title: |
MGI-UniGene Interconnection Effort |
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•
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| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
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| Title: |
Annotation inferences using phylogenetic trees |
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•
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| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
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•
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| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
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•
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| 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 Gene 1.0 ST Array Platform |
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•
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| Publication |
| 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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•
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•
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•
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| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
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•
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| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
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•
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| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
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| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
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| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
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•
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| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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•
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•
•
•
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| 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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| Publication |
| 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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| DO Term |
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| Protein Domain |
| 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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•
•
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•
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| Publication |
| 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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•
•
•
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| Publication |
| 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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•
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•
•
•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
126
 |
| Fragment?: |
true |
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•
•
•
•
•
|
| Publication |
| 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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•
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•
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| Protein Domain |
| 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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•
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•
•
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| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
943
 |
| Fragment?: |
false |
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•
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•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
848
 |
| Fragment?: |
false |
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•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
770
 |
| Fragment?: |
true |
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•
•
•
•
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