Aliases for CC2D2B Gene
Aliases for CC2D2B Gene
External Ids for CC2D2B Gene
- HGNC: 31666
- Entrez Gene: 387707
- Ensembl: ENSG00000188649
- UniProtKB: Q6DHV5
Previous HGNC Symbols for CC2D2B Gene
- C10orf130
- C10orf131
Previous GeneCards Identifiers for CC2D2B Gene
- GC10P097725
- GC10P097751
- GC10P097709
- GC10P091387
- GC10P097735
- GC10P095938
Summaries for CC2D2B Gene
GeneCards Summary for CC2D2B Gene
CC2D2B (Coiled-Coil And C2 Domain Containing 2B) is a Protein Coding gene. Diseases associated with CC2D2B include Meckel Syndrome 1 and Joubert Syndrome 1. An important paralog of this gene is CC2D2A.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CC2D2B Gene
Genomics for CC2D2B Gene
Regulatory Elements for CC2D2B Gene
Enhancers for CC2D2B Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CC2D2B on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CC2D2B Gene
- Chromosome:
- 10
- Start:
- 95,907,603 bp from pter
- End:
- 96,035,750 bp from pter
- Size:
- 128,148 bases
- Orientation:
- Plus strand
Genomic View for CC2D2B Gene
Genes around CC2D2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.1 by Ensembl
- 10q24.1 by Entrez Gene
- 10q24.1 by HGNC
CC2D2B 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 CC2D2B Gene
Proteins for CC2D2B Gene
-
Protein details for CC2D2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6DHV5-C2D2B_HUMAN
- Recommended name:
- Protein CC2D2B
- Protein Accession:
- Q6DHV5
- A2A3E9
- B4DYD4
- E9PCC3
- Q5VUS0
Protein attributes for CC2D2B Gene
- Size:
- 322 amino acids
- Molecular mass:
- 37073 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for CC2D2B Gene
Other Protein References for CC2D2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CC2D2B
- Novus Biologicals Antibodies for CC2D2B
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- GeneTex CC2D2B antibody for CC2D2B
Protein Products
-
OriGene Purified Proteins for CC2D2B
- Search Origene for MassSpec and Protein Over-expression Lysates for CC2D2B
- Origene Custom Protein Services for CC2D2B
- Search GeneTex for Proteins for CC2D2B
Assay Products
No data available for DME Specific Peptides for CC2D2B Gene
Domains & Families for CC2D2B Gene
Protein Domains for CC2D2B Gene
- ProtoNet:
Suggested Antigen Peptide Sequences for CC2D2B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for CC2D2B Gene
Function for CC2D2B Gene
Phenotypes for CC2D2B Gene
- GenomeRNAi human phenotypes for CC2D2B:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CC2D2B gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D2B gene
- Search ViGene Biosciences for CC2D2B
CRISPR Products
-
OriGene CRISPR knockouts for CC2D2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for CC2D2B
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miRNA for CC2D2B Gene
- miRTarBase miRNAs that target CC2D2B
miRNA Products
- Search ViGene Biosciences for CC2D2B
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CC2D2B
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-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D2B gene
Clone Products
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-
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 CC2D2B
-
ViGene Biosciences adenoviral particle packaged cDNA for CC2D2B gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CC2D2B gene
-
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Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CC2D2B Gene
Localization for CC2D2B Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 3 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CC2D2B Gene
Transcripts for CC2D2B Gene
mRNA/cDNA for CC2D2B Gene
- (12) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (11) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CC2D2B Gene
- Coiled-coil and C2 domain containing 2B:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CC2D2B
-
Santa Cruz Biotechnology (SCBT) CRISPR for CC2D2B
- GenScript: Design CRISPR guide RNA sequences for CC2D2B
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miRNA Products
- Search ViGene Biosciences for CC2D2B
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CC2D2B
- Browse OriGene Inhibitory RNA Products For CC2D2B
-
ViGene Biosciences ready-to-package AAV shRNAs for CC2D2B gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CC2D2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CC2D2B
-
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
Expression for CC2D2B Gene
mRNA differential expression in normal tissues according to GTEx for CC2D2B Gene
This gene is overexpressed in Testis (x9.0).
NURSA nuclear receptor signaling pathways regulating expression of CC2D2B Gene:
CC2D2BSOURCE GeneReport for Unigene cluster for CC2D2B Gene:
Hs.652240Primer Products
-
OriGene qPCR primer pairs for CC2D2B
-
OriGene qPCR primer pairs and template standards for CC2D2B
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CC2D2B Gene
Orthologs for CC2D2B Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CC2D2B 34 |
|
||
| -- 35 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | CC2D2B 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG43370 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mks-6 35 |
|
OneToMany |
- Species where no ortholog for CC2D2B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- cow (Bos Taurus)
- 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)
- mouse (Mus musculus)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- zebrafish (Danio rerio)
Paralogs for CC2D2B Gene
(1) SIMAP similar genes for CC2D2B Gene using alignment to 6 proteins:
Variants for CC2D2B Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000010810 | -- | 96,035,581(+) | ATTTC(C/T)TTTAG | intron-variant, downstream-variant-500B | |
| rs1000055699 | -- | 95,974,955(+) | AGAAT(A/T)TACAA | intron-variant | |
| rs1000055967 | -- | 96,026,641(+) | ACATA(C/T)GGGTA | intron-variant | |
| rs1000177449 | -- | 96,035,580(+) | AATTT(A/C)TTTTA | intron-variant, downstream-variant-500B | |
| rs1000207715 | -- | 95,982,760(+) | TCTTT(A/G)TTTTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3321957 | CNV | insertion | 20981092 |
| esv3624289 | CNV | loss | 21293372 |
| esv3624291 | CNV | loss | 21293372 |
| nsv1110852 | OTHER | inversion | 24896259 |
| nsv1110852 | OTHER | inversion | 24896259 |
| nsv25405 | CNV | deletion | 16902084 |
| nsv477467 | CNV | novel sequence insertion | 20440878 |
| nsv948147 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.94;
74.52% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CC2D2B Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CC2D2B Gene
Disorders for CC2D2B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| meckel syndrome 1 |
|
|
| joubert syndrome 1 |
|
|
Search CC2D2B in MalaCards
View complete list of genes associated with diseases
Relevant External Links for CC2D2B
No data available for UniProtKB/Swiss-Prot and Genatlas for CC2D2B Gene
Publications for CC2D2B Gene
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. (PMID: 26687479) Oliviero G. … Cagney G. (Sci. Rep. 2015) 3 64
Products for CC2D2B Gene
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- Custom Antibody ServicesOriGene Antibodies for CC2D2B
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- VectorBuilder custom plasmid, inducible vectors for CC2D2B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CC2D2B
- 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 CC2D2B 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
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- (18) KEGG
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- (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
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- (72) GenScript
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- (74) Cloud-Clone Corp.
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- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
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- (81) Reactome
- (82) GeneGo (Thomson Reuters)
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- (100) COMPARTMENTS
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