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Aliases for CC2D2A Gene

Aliases for CC2D2A Gene

  • Coiled-Coil And C2 Domain Containing 2A 2 3 5
  • Meckel Syndrome 2
  • KIAA1345 4
  • Type 6 2
  • JBTS9 3
  • MKS6 3

External Ids for CC2D2A Gene

Previous GeneCards Identifiers for CC2D2A Gene

  • GC04P015080
  • GC04P014821

Summaries for CC2D2A Gene

Entrez Gene Summary for CC2D2A Gene

  • 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]

GeneCards Summary for CC2D2A Gene

CC2D2A (Coiled-Coil And C2 Domain Containing 2A) is a Protein Coding gene. Diseases associated with CC2D2A include joubert syndrome 9 and meckel syndrome 6. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is C10orf131.

UniProtKB/Swiss-Prot for CC2D2A Gene

  • Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).

Gene Wiki entry for CC2D2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CC2D2A Gene

Genomics for CC2D2A Gene

Regulatory Elements for CC2D2A Gene

Promoters for CC2D2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CC2D2A on UCSC Golden Path with GeneCards custom track

Genomic Location for CC2D2A Gene

Chromosome:
4
Start:
15,469,861 bp from pter
End:
15,601,971 bp from pter
Size:
132,111 bases
Orientation:
Plus strand

Genomic View for CC2D2A Gene

Genes around CC2D2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CC2D2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CC2D2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CC2D2A Gene

Proteins for CC2D2A Gene

  • Protein details for CC2D2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2K1-C2D2A_HUMAN
    Recommended name:
    Coiled-coil and C2 domain-containing protein 2A
    Protein Accession:
    Q9P2K1
    Secondary Accessions:
    • A6ND97
    • B3FW08
    • D6RB72
    • E7EP21
    • E9PEV5
    • Q3SYP3
    • Q9H8A7

    Protein attributes for CC2D2A Gene

    Size:
    1620 amino acids
    Molecular mass:
    186185 Da
    Quaternary structure:
    • Part of the tectonic-like complex (also named B9 complex).
    SequenceCaution:
    • Sequence=AAI03711.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA92583.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14710.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for CC2D2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CC2D2A Gene

Proteomics data for CC2D2A Gene at MOPED

Post-translational modifications for CC2D2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CC2D2A Gene

Domains & Families for CC2D2A Gene

Protein Domains for CC2D2A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CC2D2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9P2K1

UniProtKB/Swiss-Prot:

C2D2A_HUMAN :
  • Contains 1 C2 domain.
Domain:
  • Contains 1 C2 domain.
genes like me logo Genes that share domains with CC2D2A: view

No data available for Gene Families for CC2D2A Gene

Function for CC2D2A Gene

Molecular function for CC2D2A Gene

UniProtKB/Swiss-Prot Function:
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
genes like me logo Genes that share phenotypes with CC2D2A: view

Human Phenotype Ontology for CC2D2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CC2D2A Gene

MGI Knock Outs for CC2D2A:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CC2D2A Gene

Localization for CC2D2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CC2D2A Gene

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CC2D2A Gene COMPARTMENTS Subcellular localization image for CC2D2A gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CC2D2A Gene

Pathways & Interactions for CC2D2A Gene

genes like me logo Genes that share pathways with CC2D2A: view

Interacting Proteins for CC2D2A Gene

Gene Ontology (GO) - Biological Process for CC2D2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway ISS --
GO:0007368 determination of left/right symmetry IEA --
GO:0035058 nonmotile primary cilium assembly IEA --
genes like me logo Genes that share ontologies with CC2D2A: view

No data available for SIGNOR curated interactions for CC2D2A Gene

Drugs & Compounds for CC2D2A Gene

No Compound Related Data Available

Transcripts for CC2D2A Gene

Unigene Clusters for CC2D2A Gene

Coiled-coil and C2 domain containing 2A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CC2D2A Gene

No ASD Table

Relevant External Links for CC2D2A Gene

GeneLoc Exon Structure for
CC2D2A
ECgene alternative splicing isoforms for
CC2D2A

Expression for CC2D2A Gene

mRNA expression in normal human tissues for CC2D2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CC2D2A Gene

This gene is overexpressed in Retina (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CC2D2A Gene



SOURCE GeneReport for Unigene cluster for CC2D2A Gene Hs.590928

mRNA Expression by UniProt/SwissProt for CC2D2A Gene

Q9P2K1-C2D2A_HUMAN
Tissue specificity: Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.
genes like me logo Genes that share expression patterns with CC2D2A: view

Protein tissue co-expression partners for CC2D2A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CC2D2A Gene

Orthologs for CC2D2A Gene

This gene was present in the common ancestor of animals.

Orthologs for CC2D2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CC2D2A 36
  • 99 (a)
OneToOne
CC2D2A 35
  • 99.61 (n)
  • 99.38 (a)
cow
(Bos Taurus)
Mammalia CC2D2A 35
  • 84.98 (n)
  • 86.19 (a)
CC2D2A 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CC2D2A 36
  • 88 (a)
OneToOne
CC2D2A 35
  • 88.07 (n)
  • 88.46 (a)
mouse
(Mus musculus)
Mammalia Cc2d2a 16
Cc2d2a 36
  • 85 (a)
OneToOne
Cc2d2a 35
  • 84.11 (n)
  • 85.71 (a)
oppossum
(Monodelphis domestica)
Mammalia CC2D2A 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CC2D2A 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cc2d2a 35
  • 82.48 (n)
  • 83.57 (a)
chicken
(Gallus gallus)
Aves CC2D2A 35
  • 72.03 (n)
  • 71.73 (a)
CC2D2A 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 79 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cc2d2a 35
  • 65.21 (n)
  • 64.45 (a)
Str.4091 35
zebrafish
(Danio rerio)
Actinopterygii cc2d2a 36
  • 55 (a)
OneToOne
cc2d2a 35
  • 60.7 (n)
  • 59.58 (a)
wufc03c12 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009813 35
  • 45.29 (n)
  • 33.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43370 36
  • 21 (a)
OneToMany
CG43370 35
  • 40.91 (n)
  • 29.88 (a)
worm
(Caenorhabditis elegans)
Secernentea mks-6 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for CC2D2A:
  • 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)
  • 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)

Evolution for CC2D2A Gene

ENSEMBL:
Gene Tree for CC2D2A (if available)
TreeFam:
Gene Tree for CC2D2A (if available)

Paralogs for CC2D2A Gene

Paralogs for CC2D2A Gene

(1) SIMAP similar genes for CC2D2A Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for CC2D2A Gene

genes like me logo Genes that share paralogs with CC2D2A: view

Variants for CC2D2A Gene

Sequence variations from dbSNP and Humsavar for CC2D2A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs16892095 - 15,516,734(+) GGCAG(A/C)GCTTG reference, missense
rs16892134 - 15,538,112(+) GAAGC(A/C/G)TAACA reference, missense
VAR_055321 Joubert syndrome 9 (JBTS9)
VAR_055322 Joubert syndrome 9 (JBTS9)
VAR_055323 COACH syndrome (COACHS)

Structural Variations from Database of Genomic Variants (DGV) for CC2D2A Gene

Variant ID Type Subtype PubMed ID
dgv1586e1 CNV Complex 17122850
dgv1587e1 CNV Complex 17122850
nsv428439 CNV Gain+Loss 18775914

Variation tolerance for CC2D2A Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CC2D2A Gene

HapMap Linkage Disequilibrium report
CC2D2A
Human Gene Mutation Database (HGMD)
CC2D2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CC2D2A Gene

Disorders for CC2D2A Gene

MalaCards: The human disease database

(25) MalaCards diseases for CC2D2A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 9
  • jbts9
meckel syndrome 6
  • mks6
coach syndrome
  • cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis
cc2d2a-related joubert syndrome
  • joubert syndrome 9
joubert syndrome with oculorenal anomalies
  • arima syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C2D2A_HUMAN
  • Meckel syndrome 6 (MKS6) [MIM:612284]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. {ECO:0000269 PubMed:19466712}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Joubert syndrome 9 (JBTS9) [MIM:612285]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:18387594, ECO:0000269 PubMed:18950740, ECO:0000269 PubMed:19777577, ECO:0000269 PubMed:22425360, ECO:0000269 PubMed:23012439, ECO:0000269 PubMed:26477546}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • COACH syndrome (COACHS) [MIM:216360]: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. {ECO:0000269 PubMed:19574260}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CC2D2A

Genetic Association Database (GAD)
CC2D2A
Human Genome Epidemiology (HuGE) Navigator
CC2D2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CC2D2A
genes like me logo Genes that share disorders with CC2D2A: view

No data available for Genatlas for CC2D2A Gene

Publications for CC2D2A Gene

  1. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. (PMID: 18513680) Tallila J. … Kestilae M. (Am. J. Hum. Genet. 2008) 2 3 4 67
  2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  4. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. (PMID: 22241855) Bachmann-Gagescu R. … Doherty D. (J. Med. Genet. 2012) 3
  5. Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population. (PMID: 22023432) Shi Z.Y. … Zhang F.C. (DNA Cell Biol. 2012) 3

Products for CC2D2A Gene

Sources for CC2D2A Gene

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