Aliases for CC2D1A Gene
Aliases for CC2D1A Gene
- Coiled-Coil And C2 Domain Containing 1A 2 3 5
- Five Prime Repressor Element Under Dual Repression-Binding Protein 1 3 4
- Mental Retardation, Nonsyndromic, Autosomal Recessive, 3 2 3
- Putative NF-Kappa-B-Activating Protein 023N 3 4
- FRE Under Dual Repression-Binding Protein 1 3 4
- Akt Kinase-Interacting Protein 1 3 4
- FREUD-1 3 4
External Ids for CC2D1A Gene
- HGNC: 30237
- Entrez Gene: 54862
- Ensembl: ENSG00000132024
- OMIM: 610055
- UniProtKB: Q6P1N0
Previous GeneCards Identifiers for CC2D1A Gene
- GC19P013865
- GC19P014016
- GC19P013588
Summaries for CC2D1A Gene
-
This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009]
GeneCards Summary for CC2D1A Gene
CC2D1A (Coiled-Coil And C2 Domain Containing 1A) is a Protein Coding gene. Diseases associated with CC2D1A include Autosomal Recessive Non-Syndromic Intellectual Disability and Non-Syndromic Intellectual Disability. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. GO annotations related to this gene include signal transducer activity and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is CC2D1B.
UniProtKB/Swiss-Prot for CC2D1A Gene
-
Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CC2D1A Gene
Genomics for CC2D1A Gene
Regulatory Elements for CC2D1A Gene
Enhancers for CC2D1A Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH19G013879 | 1.4 | Ensembl ENCODE | 35.2 | -24.7 | -24664 | 3.5 | HDGF PKNOX1 MLX AGO1 ARID4B SIN3A ZNF2 ZBTB7B YY1 CBX5 | CC2D1A C19orf57 PALM3 EEF1DP1 MISP3 ZNF333 TRMT1 GC19P013876 |
| GH19G013884 | 1.4 | FANTOM5 Ensembl ENCODE | 22.8 | -19.8 | -19835 | 3.3 | BCOR PKNOX1 KLF1 ZMYM3 KLF17 BMI1 ZIC2 ZNF48 ZNF121 ZFHX2 | CC2D1A C19orf57 PALM3 EEF1DP1 MISP3 IL27RA CCDC130 DCAF15 GC19P013876 |
| GH19G013905 | 1.1 | ENCODE | 22.5 | +0.3 | 258 | 1.7 | HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 ZNF143 | CC2D1A C19orf57 |
| GH19G013888 | 0.7 | ENCODE | 22 | -17.5 | -17501 | 0.7 | CTCF CBX3 ZNF687 KLF4 RAD21 ZBTB40 MBD2 ZNF579 CTBP1 GLIS1 | CC2D1A GC19P013876 |
| GH19G013872 | 1.1 | Ensembl ENCODE | 13 | -32.9 | -32933 | 1.4 | HDAC1 ATF1 RB1 RAD21 CREM SP1 RAD51 NFIC MTA1 SMARCA4 | CC2D1A MIR181C NANOS3 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CC2D1A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CC2D1A gene promoter:
Regulatory Element Products
Genomic Location for CC2D1A Gene
- Chromosome:
- 19
- Start:
- 13,906,143 bp from pter
- End:
- 13,930,880 bp from pter
- Size:
- 24,738 bases
- Orientation:
- Plus strand
Genomic View for CC2D1A Gene
Genes around CC2D1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.12 by Ensembl
- 19p13.12 by Entrez Gene
- 19p13.12 by HGNC
CC2D1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CC2D1A Gene
Proteins for CC2D1A Gene
-
Protein details for CC2D1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6P1N0-C2D1A_HUMAN
- Recommended name:
- Coiled-coil and C2 domain-containing protein 1A
- Protein Accession:
- Q6P1N0
- Q7Z435
- Q86XV0
- Q8NF89
- Q9H603
- Q9NXI1
Protein attributes for CC2D1A Gene
- Size:
- 951 amino acids
- Molecular mass:
- 104062 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA91029.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAB15464.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for CC2D1A Gene
Post-translational modifications for CC2D1A Gene
- Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CC2D1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CC2D1A
- Novus Biologicals Antibodies for CC2D1A
-
Abcam antibodies for CC2D1A
- Invitrogen Antibodies for CC2D1A
- antibodies-online Antibodies for CC2D1A: See all 36
- Search GeneTex for Antibodies for CC2D1A
Protein Products
-
OriGene Purified Proteins for CC2D1A
- Search Origene for MassSpec and Protein Over-expression Lysates for CC2D1A
- Origene Custom Protein Services for CC2D1A
- Search GeneTex for Proteins for CC2D1A
Assay Products
- antibodies-online Kits for CC2D1A: See all 23
No data available for DME Specific Peptides for CC2D1A Gene
Domains & Families for CC2D1A Gene
Gene Families for CC2D1A Gene
Suggested Antigen Peptide Sequences for CC2D1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q6P1N0UniProtKB/Swiss-Prot:
C2D1A_HUMAN :- The C2 domain is required for the repression.
- Belongs to the CC2D1 family.
- Domain:
-
- The C2 domain is required for the repression.
- Family:
-
- Belongs to the CC2D1 family.
Function for CC2D1A Gene
Molecular function for CC2D1A Gene
- UniProtKB/Swiss-Prot Function:
- Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II core promoter proximal region sequence-specific DNA binding | IEA | -- |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IBA | -- |
| GO:0001078 | transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0004871 | signal transducer activity | IMP | 12761501 |
Phenotypes for CC2D1A Gene
- MGI mutant phenotypes for CC2D1A:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CC2D1A:
Animal Models for CC2D1A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CC2D1A
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CC2D1A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D1A gene
- Search ViGene Biosciences for CC2D1A
CRISPR Products
-
OriGene CRISPR knockouts for CC2D1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for CC2D1A
- GenScript: Design CRISPR guide RNA sequences for CC2D1A
miRNA for CC2D1A Gene
- miRTarBase miRNAs that target CC2D1A
miRNA Products
- Search ViGene Biosciences for CC2D1A
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CC2D1A
- Browse OriGene Inhibitory RNA Products For CC2D1A
-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D1A gene
Clone Products
-
OriGene ORF clones in human for CC2D1A
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CC2D1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CC2D1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CC2D1A
-
ViGene Biosciences adenoviral particle packaged cDNA for CC2D1A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CC2D1A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D1A gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CC2D1A Gene
Localization for CC2D1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for CC2D1A Gene
- Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| plasma membrane | 4 |
| cytosol | 4 |
| cytoskeleton | 3 |
| mitochondrion | 2 |
| endosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA,IBA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005815 | microtubule organizing center | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for CC2D1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways | ||
Pathways by source for CC2D1A Gene
1 BioSystems pathway for CC2D1A Gene
Interacting Proteins for CC2D1A Gene
Selected Interacting proteins:
ENSP00000313601
Q6P1N0-C2D1A_HUMAN
for CC2D1A Gene via
STRING
IID
UniProtKB
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IBA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | IMP | 12761501 |
No data available for SIGNOR curated interactions for CC2D1A Gene
Drugs & Compounds for CC2D1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Nutra | 0 |
Transcripts for CC2D1A Gene
mRNA/cDNA for CC2D1A Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (151) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CC2D1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for CC2D1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for CC2D1A
- GenScript: Design CRISPR guide RNA sequences for CC2D1A
miRNA Products
- Search ViGene Biosciences for CC2D1A
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CC2D1A
- Browse OriGene Inhibitory RNA Products For CC2D1A
-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D1A gene
Clone Products
-
OriGene ORF clones in human for CC2D1A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CC2D1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CC2D1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | 17a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: |
Expression for CC2D1A Gene
This gene is overexpressed in Brain (7.9) and Pancreas (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CC2D1A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CC2D1A Gene:
CC2D1ASOURCE GeneReport for Unigene cluster for CC2D1A Gene:
Hs.269592Evidence on tissue expression from TISSUES for CC2D1A Gene
- Nervous system(4.8)
- Kidney(4.4)
- Lung(4.4)
- Liver(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CC2D1A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tooth
Thorax:
- chest wall
- heart
Abdomen:
- abdominal wall
Limb:
- foot
- lower limb
General:
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for CC2D1A
-
OriGene qPCR primer pairs for CC2D1A
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CC2D1A Gene
Orthologs for CC2D1A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CC2D1A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CC2D1A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CC2D1A 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cc2d1a 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cc2d1a 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CC2D1A 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CC2D1A 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cc2d1a 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CC2D1A 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | l(2)gd1 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010539 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_Y37H9A.3 34 |
|
||
| Y37H9A.3 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany |
- Species where no ortholog for CC2D1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CC2D1A Gene
(1) SIMAP similar genes for CC2D1A Gene using alignment to 4 proteins:
Variants for CC2D1A Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs876657679 | Pathogenic | 13,913,639(+) | CCCAG(G/T)TAGGT | splice-donor-variant | |
| rs10410239 | Likely benign | 13,919,876(+) | GTGGG(C/T)GTCCT | reference, synonymous-codon | |
| rs11669628 | Likely benign | 13,930,083(+) | AATAC(A/C/G/T)CAGCC | reference, missense | |
| rs11883041 | Likely benign | 13,918,814(+) | CCACA(A/C)CAGGT | reference, missense | |
| rs147905122 | Likely benign | 13,926,550(+) | ATGCT(C/T)CTCTT | reference, synonymous-codon |
Residual Variation Intolerance Score:
97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.58;
86.13% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CC2D1A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CC2D1A Gene
Disorders for CC2D1A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| autosomal recessive non-syndromic intellectual disability |
|
|
| non-syndromic intellectual disability |
|
|
Search CC2D1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
C2D1A_HUMAN- Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. {ECO:0000269 PubMed:16033914}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CC2D1A
No data available for Genatlas for CC2D1A Gene
Publications for CC2D1A Gene
- The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. (PMID: 16033914) Basel-Vanagaite L. … Shohat M. (J. Med. Genet. 2006) 2 3 4 64
- Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A. … Sugano S. (Oncogene 2003) 2 3 4 64
- Mitotic phosphorylation of Aki1 at Ser208 by cyclin B1-Cdk1 complex. (PMID: 20171170) Nakamura A. … Fujita N. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
- Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. (PMID: 18806297) McKay G.J. … Hughes A.E. (Invest. Ophthalmol. Vis. Sci. 2009) 3 46 64
- The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation. (PMID: 17394259) Rogaeva A. … Albert P.R. (J. Neurosci. Res. 2007) 3 22 64
Products for CC2D1A Gene
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- Custom Antibody ServicesOriGene Antibodies for CC2D1A
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- Browse OriGene Inhibitory RNA Products For CC2D1A
- OriGene qPCR primer pairs and template standards for CC2D1A
- OriGene qPCR primer pairs for CC2D1A
- OriGene CRISPR knockouts for CC2D1A
- OriGene ORF clones in human for CC2D1A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CC2D1A
- GenScript: Next-day shipping cDNA ORF clone for CC2D1A in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CC2D1A
- GenScript Custom Assay Services for CC2D1A
- GenScript Custom overexpressing Cell Line Services for CC2D1A
- GenScript: Design CRISPR guide RNA sequences for CC2D1A
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CC2D1A
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CC2D1A
- Novus Biologicals proteins and lysates for CC2D1A
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for CC2D1A: See all 36
- antibodies-online Kits for CC2D1A: See all 23
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for CC2D1A
- Search GeneTex for Proteins for CC2D1A
- ViGene Biosciences adenoviral particle packaged cDNA for CC2D1A gene
- ViGene Biosciences lentiviral particle packaged cDNA for CC2D1A gene
- ViGene Biosciences ready-to-package AAV shRNAs for CC2D1A gene
- Search ViGene Biosciences for CC2D1A
- Horizon Cell Lines for CC2D1A
- Cyagen custom Knockout/knockin (KOKI) mouse models for CC2D1A
- VectorBuilder custom plasmid, inducible vectors for CC2D1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CC2D1A
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CC2D1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer