Human Gene CC2D2A (ENST00000634028.2) from GENCODE V44
  Description: coiled-coil and C2 domain containing 2A (from HGNC CC2D2A)
RefSeq Summary (NM_001080522): This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Gencode Transcript: ENST00000634028.2
Gencode Gene: ENSG00000048342.18
Transcript (Including UTRs)
   Position: hg38 chr4:15,480,728-15,601,552 Size: 120,825 Total Exon Count: 34 Strand: +
Coding Region
   Position: hg38 chr4:15,480,728-15,597,411 Size: 116,684 Coding Exon Count: 32 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:15,480,728-15,601,552)mRNA (may differ from genome)Protein (1411 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CC2D2A
Diseases sorted by gene-association score: joubert syndrome 9* (1230), meckel syndrome 6* (1229), coach syndrome* (1194), cc2d2a-related joubert syndrome* (518), meckel syndrome 1* (384), joubert syndrome with oculorenal anomalies* (143), joubert syndrome 1* (132), cc2d2a-related meckel syndrome* (100), congenital hepatic fibrosis (12), bardet-biedl syndrome 15 (12), ciliopathy (8), joubert syndrome and related disorders (7), cystic kidney disease (6), bardet-biedl syndrome 13 (6), encephalocele (5), bardet-biedl syndrome 11 (4), senior-loken syndrome-1 (3), autosomal recessive non-syndromic intellectual disability (3), nephronophthisis (2), coloboma (2), retinitis pigmentosa (1), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.01 RPKM in Colon - Sigmoid
Total median expression: 130.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -119.50548-0.218 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  BX647334 - Homo sapiens mRNA; cDNA DKFZp686P1988 (from clone DKFZp686P1988).
EU450799 - Homo sapiens coiled-coil and C2 domain-containing 2A (CC2D2A) mRNA, complete cds.
AB037766 - Homo sapiens mRNA for KIAA1345 protein, partial cds.
AB384183 - Synthetic construct DNA, clone: pF1KSDA1345, Homo sapiens KIAA1345 gene for KIAA1345 protein, complete cds, without stop codon, in Flexi system.
AK023876 - Homo sapiens cDNA FLJ13814 fis, clone THYRO1000368.
AK025543 - Homo sapiens cDNA: FLJ21890 fis, clone HEP03186.
AK096047 - Homo sapiens cDNA FLJ38728 fis, clone KIDNE2010430.
AK309178 - Homo sapiens cDNA, FLJ99219.
BC061921 - Homo sapiens cDNA clone IMAGE:4392317, partial cds.
BC053865 - Homo sapiens KIAA1345 protein, mRNA (cDNA clone IMAGE:5204856).
BC070395 - Homo sapiens cDNA clone IMAGE:6559700.
BC103710 - Homo sapiens coiled-coil and C2 domain containing 2A, mRNA (cDNA clone IMAGE:5785768), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0J9YY35, ENST00000634028.1, EU450799, uc003gnx.1, uc003gnx.2, uc003gnx.3, uc003gnx.4, uc003gnx.5, uc003gnx.6
UCSC ID: ENST00000634028.2
RefSeq Accession: NM_001080522

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CC2D2A:
joubert (Joubert Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.