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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CC2D2A Gene

protein-coding   GIFtS: 49
GCID: GC04P015471

Coiled-Coil And C2 Domain Containing 2A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Coiled-Coil And C2 Domain Containing 2A1 2     Type 61
MKS62 5     JBTS92
KIAA13453 5     Coiled-Coil And C2 Domain-Containing Protein 2A2
Meckel Syndrome1     

External Ids:    HGNC: 292531   Entrez Gene: 575452   Ensembl: ENSG000000483427   OMIM: 6120135   UniProtKB: Q9P2K13   

Export aliases for CC2D2A gene to outside databases

Previous GC identifers: GC04P015080 GC04P014821


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cc2d2a-related meckel syndrome. An important paralog of this gene is C10orf131.

UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1
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 Wiki entry for CC2D2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006316.16  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CC2D2A gene promoter:
         MIF-1   IRF-1   Evi-1   C/EBPalpha   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CC2D2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CC2D2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p15.32   Ensembl cytogenetic band:  4p15.32   HGNC cytogenetic band: 4p15.33

CC2D2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CC2D2A gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P015471:  view genomic region     (about GC identifiers)

Start:
15,471,489 bp from pter      End:
15,603,180 bp from pter
Size:
131,692 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1 (See protein sequence)
Recommended Name: Coiled-coil and C2 domain-containing protein 2A  
Size: 1620 amino acids; 186185 Da
Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition
zone, a region between the basal body and the ciliary axoneme (By similarity)
Developmental stage: At Carnagie stage 13 (CS13, after 4 weeks of development) and CS14 CC2D2A is ubiquitously
expressed, with a distinct signal in the spinal cord and limb buds. At CS17 CC2D2A continue to be widely
expressedin particular throughout the central nervous system (CNS), lung, and digestive tract epithelia. At CS22
expression continues to be intense within the CNS, where strong and specific expression is observed in the eye
and in external granular layer of cerebellum. CC2D2A expression is also observed in the costal perichondrium
Sequence caution: Sequence=AAI03711.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA92583.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14710.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: A6ND97 B3FW08 D6RB72 E7EP21 E9PEV5 Q3SYP3 Q9H8A7
Alternative splicing: 4 isoforms:  Q9P2K1-4   Q9P2K1-2   Q9P2K1-5   Q9P2K1-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CC2D2A: NX_Q9P2K1

Explore proteomics data for CC2D2A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P2K1

  • CC2D2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CC2D2A Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001073991.2  NP_001158192.1  NP_065836.2  

    ENSEMBL proteins: 
     ENSP00000426109   ENSP00000422875   ENSP00000427221   ENSP00000424368   ENSP00000421809  
     ENSP00000426846   ENSP00000374303   ENSP00000422931   ENSP00000403465   ENSP00000398391  
     ENSP00000401154  

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    Cloud-Clone Corp. Proteins for CC2D2A 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005932microtubule basal body IEA--
    GO:0035869ciliary transition zone ISS--
    GO:0036038TCTN-B9D complex ISS--

    CC2D2A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q9P2K1

    ProtoNet protein and cluster: Q9P2K1

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1
    Similarity: Contains 1 C2 domain


    CC2D2A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C2D2A_HUMAN, Q9P2K1
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    CC2D2A for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cc2d2a):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     renal/urinary system  vision/eye 

    CC2D2A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CC2D2A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CC2D2A 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CC2D2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for CC2D2A (ENSP000003983914) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CEP290ENSP000003080214STRING: ENSP00000308021
    TCTN2ENSP000003049414STRING: ENSP00000304941
    TMEM216ENSP000003819504STRING: ENSP00000381950
    TMEM67ENSP000003899984STRING: ENSP00000389998
    MKS1ENSP000003768274STRING: ENSP00000376827
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007224smoothened signaling pathway ISS--
    GO:0042384cilium assembly ISS--
    GO:0060271cilium morphogenesis ISS--

    CC2D2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CC2D2A (C2D2A)

    Search CenterWatch for drugs/clinical trials and news about CC2D2A / C2D2A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CC2D2A gene (3 alternative transcripts): 
    NM_001080522.2  NM_001164720.1  NM_020785.2  

    Unigene Cluster for CC2D2A:

    Coiled-coil and C2 domain containing 2A
    Hs.590928  [show with all ESTs]
    Unigene Representative Sequence: NM_001080522
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511544 ENST00000512702 ENST00000513811 ENST00000507954 ENST00000515124
    ENST00000514450 ENST00000503292(uc003gnz.1 uc003goa.1) ENST00000503658
    ENST00000389652(uc003gnx.3) ENST00000510220 ENST00000506643 ENST00000512202
    ENST00000514039 ENST00000513035 ENST00000424120 ENST00000413206(uc003gnv.2 uc010idv.2)
    ENST00000438599(uc003gnr.4 uc003gnq.4 uc003gns.4)
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    Additional mRNA sequence: 

    AB037766.1 AK023876.1 AK025543.1 AK096047.1 AK309178.1 BC053865.1 BC061921.1 BC070395.1 
    BC103710.1 BX647334.1 EU450799.1 

    21 DOTS entries:

    DT.101983130  DT.99936685  DT.97781457  DT.40280445  DT.101983131  DT.121249107  DT.97836202  DT.210374 
    DT.100733497  DT.70103650  DT.121248808  DT.302806  DT.92037922  DT.101960139  DT.121248989  DT.40252209 
    DT.75181026  DT.95318619  DT.97807548  DT.91898644  DT.95358527 

    24/76 AceView cDNA sequences (see all 76):

    AI202019 AI376394 BQ050967 BX389585 BX647334 BX397178 AL536815 BQ070509 
    CR622306 AI733918 CN479175 BM681115 AB037766 CR605361 BC053865 AI936341 
    AU141304 AI972543 BM976077 CR602853 CA418827 AK023876 BE893129 BQ185019 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CC2D2A expression in normal human tissues (normalized intensities)      CC2D2A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAACTAC
    CC2D2A Expression
    About this image


    CC2D2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Epithelium (Uncategorized)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             bronchial epithelial cells   
     
     Thyroid (Endocrine System)
             thyroid gland ; glandular cells   
     
     Lung (Respiratory System)
             bronchus ; respiratory epithelial cells   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Nose (Sensory Organs)
             nasopharynx ; respiratory epithelial cells   

    See CC2D2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CC2D2A

    SOURCE GeneReport for Unigene cluster: Hs.590928

    UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1
    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

        SABiosciences Expression via Pathway-Focused PCR Array including CC2D2A: 
              Primary Cilia in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CC2D2A gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cc2d2a1 , 5 coiled-coil and C2 domain containing 2A1, 5 84.25(n)1
    85.61(a)1
      5 (23.78 cM)5
    2312141  NM_172274.21  NP_758478.11 
     436623795 
    chicken
    (Gallus gallus)
    Aves CC2D2A1 coiled-coil and C2 domain containing 2A 72.08(n)
    71.86(a)
      422830  XM_420777.3  XP_420777.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    79(a)
    74(a)
    1 ↔ many
    1 ↔ many
    4(124100610-124104064)
    4(124105657-124151368)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.40912 Transcribed sequence with weak similarity to protein more 76.74(n)    BX774913.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc03c122 Transcribed sequence with weak similarity to protein more 72.21(n)    AL911499.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433701 CG43370 40.57(n)
    29.6(a)
      36982  NM_137385.2  NP_611229.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CC2D2A gene
    C10orf1312  ENSG000002699202  CC2D2B2  ENSG000002699482  
    1 SIMAP similar gene for CC2D2A using alignment to 4 protein entries:     C2D2A_HUMAN (see all proteins):
    CC2D2B

    CC2D2A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CC2D2A
    PGOHUM00000251275


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2548 SNPs in CC2D2A are shown (see all 2548)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0553214
    Joubert syndrome 9 (JBTS9)4--see VAR_0553212 Q H mis40--------
    VAR_0553224
    Joubert syndrome 9 (JBTS9)4--see VAR_0553222 P S mis40--------
    VAR_0690454
    Joubert syndrome 9 (JBTS9)4--see VAR_0690452 N S mis40--------
    VAR_0622934
    Meckel syndrome 6 (MKS6)4--see VAR_0622932 T M mis40--------
    VAR_0681694
    Joubert syndrome 9 (JBTS9)4--see VAR_0681692 E K mis40--------
    VAR_0690464
    Joubert syndrome 9 (JBTS9)4--see VAR_0690462 Y H mis40--------
    VAR_0638044
    COACH syndrome (COACHS)4--see VAR_0638042 T M mis40--------
    VAR_0553234
    Joubert syndrome 9 (JBTS9)4--see VAR_0553232 R C mis40--------
    VAR_0553244
    Joubert syndrome 9 (JBTS9)4--see VAR_0553242 L P mis40--------
    VAR_0628064
    Joubert syndrome 9 (JBTS9)4--see VAR_0628062 D V mis40--------

    HapMap Linkage Disequilibrium report for CC2D2A (15471489 - 15603180 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CC2D2A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv428439CNV Gain+Loss18775914
    dgv1587e1CNV Complex17122850
    dgv1586e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): CC2D2A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612013   
    OMIM disorders: 612285  612284  216360  
    UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/30 diseases for CC2D2A (see all 30):    About MalaCards
    cc2d2a-related joubert syndrome    cc2d2a-related meckel syndrome    meckel syndrome, type 6    coach syndrome
    congenital hepatic fibrosis    meckel syndrome    joubert syndrome    joubert syndrome and related disorders
    encephalocele    encephaloceles    was-related disorders    asphyxiating thoracic dystrophy
    apraxia    senior-loken syndrome    cerebellar hypoplasia    conduct disorder
    nephronophthisis    cystic kidney    fundus dystrophy    coloboma

    5 diseases from the University of Copenhagen DISEASES database for CC2D2A:
    Cystic kidney     Polydactyly     Nephronophthisis     Fundus dystrophy
    Asphyxiating thoracic dystrophy

    CC2D2A for disorders           About GeneDecksing

    GeneTests: CC2D2A
    GeneReviews: CC2D2A
    Genetic Association Database (GAD): CC2D2A
    Human Genome Epidemiology (HuGE) Navigator: CC2D2A (1 document)

    Export disorders for CC2D2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CC2D2A gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with CC2D2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. (PubMed id 18513680)1, 2, 3 Tallila J.... Kestilae M. (2008)
    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. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Genome-wide association study of conduct disorder sym ptomatology. (PubMed id 20585324)1, 4 Dick D.M....Bierut L. (2010)
    4. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) caus e COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PubMed id 19574260)1, 2 Doherty D....Glass I.A. (2010)
    5. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype- phenotype correlation. (PubMed id 19777577)1, 2 Mougou-Zerelli S.... Attie-Bitach T. (2009)
    6. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. (PubMed id 18387594)1, 2 Noor A.... Ayub M. (2008)
    7. Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. (PubMed id 19068953)1, 2 Noor A....Ayub M. (2008)
    8. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (PubMed id 18950740)1, 2 Gorden N.T....Doherty D. (2008)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (PubMed id 22246503)2 Lee J.E....Gleeson J.G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57545 HGNC: 29253 AceView: KIAA1345 Ensembl:ENSG00000048342 euGenes: HUgn57545
    ECgene: CC2D2A H-InvDB: CC2D2A

    (According to HUGE)
    About This Section
    HUGE: KIAA1345

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CC2D2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CC2D2A gene:
    Search GeneIP for patents involving CC2D2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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