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Aliases for CC2D2A Gene

Aliases for CC2D2A Gene

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

External Ids for CC2D2A Gene

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 cc2d2a-related joubert syndrome and meckel syndrome 6. 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

Genomic Location for CC2D2A Gene

Start:
15,469,865 bp from pter
End:
15,601,971 bp from pter
Size:
132,107 bases
Orientation:
Plus strand

Genomic View for CC2D2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CC2D2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CC2D2A Gene

Regulatory Elements 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 for CC2D2A Gene

Protein Domains for CC2D2A Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

C2D2A_HUMAN
Domain:
  • Contains 1 C2 domain.:
    • Q9P2K1
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).

Gene Ontology (GO) - Molecular Function for CC2D2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with CC2D2A: view
genes like me logo Genes that share phenotypes with CC2D2A: view

miRNA for CC2D2A Gene

miRTarBase miRNAs that target CC2D2A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
cytoskeleton 5
nucleus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CC2D2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0035869 ciliary transition zone ISS --
GO:0036038 TCTN-B9D complex ISS --
genes like me logo Genes that share ontologies with CC2D2A: view

Pathways for CC2D2A Gene

SuperPathways for CC2D2A Gene

No Data Available

Interacting Proteins for CC2D2A Gene

Gene Ontology (GO) - Biological Process for CC2D2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway ISS --
GO:0042384 cilium assembly ISS --
GO:0060271 cilium morphogenesis ISS --
genes like me logo Genes that share ontologies with CC2D2A: view

No data available for Pathways by source for CC2D2A Gene

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

Integrated Proteomics: protein expression 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 expressions with CC2D2A: view

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
  • 99.61 (n)
  • 99.38 (a)
CC2D2A 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CC2D2A 36
  • 84.98 (n)
  • 86.19 (a)
CC2D2A 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CC2D2A 36
  • 88.07 (n)
  • 88.46 (a)
CC2D2A 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cc2d2a 36
  • 84.11 (n)
  • 85.71 (a)
Cc2d2a 16
Cc2d2a 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CC2D2A 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CC2D2A 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cc2d2a 36
  • 82.48 (n)
  • 83.57 (a)
chicken
(Gallus gallus)
Aves CC2D2A 36
  • 72.03 (n)
  • 71.73 (a)
CC2D2A 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 79 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cc2d2a 36
  • 65.21 (n)
  • 64.45 (a)
Str.4091 36
zebrafish
(Danio rerio)
Actinopterygii cc2d2a 36
  • 60.7 (n)
  • 59.58 (a)
cc2d2a 37
  • 55 (a)
OneToOne
wufc03c12 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009813 36
  • 45.29 (n)
  • 33.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG43370 36
  • 40.91 (n)
  • 29.88 (a)
CG43370 37
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mks-6 37
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs741180 -- 15,561,787(-) GTTAG(A/T)GGTCC intron-variant
rs759212 -- 15,561,992(+) ATATG(C/T)GTAAA intron-variant
rs759213 -- 15,562,122(+) TCCTG(C/G)AACTT intron-variant
rs767092 -- 15,507,668(-) GGGTA(C/T)GTAAT intron-variant
rs917900 -- 15,492,500(+) TTTTT(G/T)TTTGT intron-variant

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

Relevant External Links for CC2D2A Gene

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

Disorders for CC2D2A Gene

(3) OMIM Diseases for CC2D2A Gene (612013)

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}. 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

GeneTests
CC2D2A
GeneReviews
CC2D2A
Genetic Association Database (GAD)
CC2D2A
Human Genome Epidemiology (HuGE) Navigator
CC2D2A
genes like me logo Genes that share disorders with CC2D2A: view

Publications for CC2D2A Gene

  1. 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 4
  2. 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
  3. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (PMID: 18950740) Gorden N.T. … Doherty D. (Am. J. Hum. Genet. 2008) 3 4
  4. Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. (PMID: 19068953) Noor A. … Ayub M. (Am. J. Hum. Genet. 2008) 3 4
  5. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PMID: 19574260) Doherty D. … Glass I.A. (J. Med. Genet. 2010) 3 4

Products for CC2D2A Gene

Sources for CC2D2A Gene

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