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Aliases for CC2D2A Gene

Aliases for CC2D2A Gene

  • Coiled-Coil And C2 Domain Containing 2A 2 3 5
  • Coiled-Coil And C2 Domain-Containing Protein 2A 3
  • Meckel Syndrome, Type 6 2
  • KIAA1345 4
  • 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 CC2D2B.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CC2D2A Gene

Genomics for CC2D2A Gene

Regulatory Elements for CC2D2A Gene

Enhancers for CC2D2A 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
GH04G014853 1 FANTOM5 Ensembl ENCODE 4.7 -616.1 -616079 1.1 GATA3 JUND FOS MAFK CC2D2A LINC00504 ENSG00000202449
GH04G015484 0.3 FANTOM5 8.5 +14.5 14451 0.4 FBXL5 FAM200B CC2D2A PIR61569
GH04G015478 1 ENCODE 0.4 +9.9 9916 2.4 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF263 SP3 FAM200B FBXL5 C1QTNF7 ENSG00000273133 CC2D2A PIR61569
GH04G015456 0.9 Ensembl ENCODE 0.4 -12.4 -12398 1.1 CTCF ZNF654 HLF TRIM22 REST RAD21 SMC3 ZNF143 SPI1 LOC101929095 C1QTNF7 ENSG00000251379 CD38 CC2D2A
GH04G015469 0.5 ENCODE 0.7 +0.1 61 1.3 PKNOX1 RFX1 GLIS1 SIN3A ZNF384 LOC101929095 CC2D2A PIR61569
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CC2D2A on UCSC Golden Path with GeneCards custom track

Promoters for CC2D2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000166205 140 1199 RFX1 GLIS1 SIN3A ZNF384

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

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

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

No data available for Gene Families and UniProtKB/Swiss-Prot 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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CC2D2A gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CC2D2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0035869 ciliary transition zone ISS --
genes like me logo Genes that share ontologies with CC2D2A: view

Pathways & Interactions for CC2D2A Gene

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

Pathways by source for CC2D2A Gene

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:0007224 smoothened signaling pathway ISS --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development IEA --
GO:0030030 cell projection organization 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for CC2D2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CC2D2A Gene:

CC2D2A

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.

Evidence on tissue expression from TISSUES for CC2D2A Gene

  • Nervous system(4.4)
  • Thyroid gland(4.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CC2D2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • salivary gland
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • breast
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • placenta
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with CC2D2A: view

Primer 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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia CC2D2A 34 35
  • 88.07 (n)
cow
(Bos Taurus)
Mammalia CC2D2A 34 35
  • 84.98 (n)
mouse
(Mus musculus)
Mammalia Cc2d2a 34 16 35
  • 84.11 (n)
rat
(Rattus norvegicus)
Mammalia Cc2d2a 34
  • 82.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CC2D2A 35
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CC2D2A 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CC2D2A 34 35
  • 72.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 79 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cc2d2a 34
  • 65.21 (n)
Str.4091 34
zebrafish
(Danio rerio)
Actinopterygii cc2d2a 34 35
  • 60.7 (n)
wufc03c12 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009813 34
  • 45.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43370 34 35
  • 40.91 (n)
worm
(Caenorhabditis elegans)
Secernentea mks-6 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToOne
Species where no ortholog for CC2D2A 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)
  • 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
rs118204051 Pathogenic, Joubert syndrome 9 (JBTS9) [MIM:612285] 15,567,752(+) CAAAC(C/T)CTAGC nc-transcript-variant, reference, missense
rs118204052 Pathogenic, COACH syndrome (COACHS) [MIM:216360], Joubert syndrome 9 (JBTS9) [MIM:612285] 15,599,614(+) CTCTG(C/T)GTCAC reference, missense
rs144439937 Likely benign, Joubert syndrome 9 (JBTS9) [MIM:612285] 15,533,245(+) TGCTT(A/G)AGACT nc-transcript-variant, reference, missense
rs186264635 Uncertain significance, Joubert syndrome 9 (JBTS9) [MIM:612285] 15,502,836(+) GAAAG(G/T)GCATT nc-transcript-variant, reference, missense
rs199768782 Benign, Joubert syndrome 9 (JBTS9) [MIM:612285] 15,540,994(+) ACTGG(C/T)CGGAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2759227 CNV gain+loss 17122850
nsv428439 CNV gain+loss 18775914
nsv966255 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
CC2D2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CC2D2A

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

Disorders for CC2D2A Gene

MalaCards: The human disease database

(19) 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
meckel syndrome 1
  • meckel syndrome
joubert syndrome with oculorenal anomalies
  • arima syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C2D2A_HUMAN
  • 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.
  • 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:22241855, ECO:0000269 PubMed:22246503, 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.
  • 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:18513680, ECO:0000269 PubMed:19466712, ECO:0000269 PubMed:24706459}. 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 64
  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 4 64
  3. 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 4 64
  4. Genome-wide association study of conduct disorder symptomatology. (PMID: 20585324) Dick D.M. … Bierut L. (Mol. Psychiatry 2011) 3 46 64
  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 64

Products for CC2D2A Gene

Sources for CC2D2A Gene

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