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] See more...

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 4
  • KIAA1345 2 4
  • JBTS9 2 3
  • MKS6 2 3
  • Meckel Syndrome, Type 6 2
  • COACH2 3
  • CC2D2A 5

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 Meckel Syndrome, Type 6 and Joubert Syndrome 9. 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 Summary 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 , Rfam classification and piRNA Summary for CC2D2A Gene

Genomics for CC2D2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CC2D2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J015478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.4 +11.1 11116 2.4 ZNF600 ZNF654 MYC IKZF1 ZNF10 POLR2A ZIC2 YY1 MXD4 REST CC2D2A FAM200B FBXL5 C1QTNF7 ENSG00000273133 piR-38524 HSALNG0033040
GH04J015469 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.4 1441 1.8 PKNOX1 ZNF384 RFX1 POLR2A CC2D2A C1QTNF7-AS1 piR-38524 HSALNG0033040 FAM200B
GH04J015339 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 -127.8 -127783 2.6 NFIA GATA2 CEBPB C1QTNF7 CC2D2A C1QTNF7-AS1 lnc-CC2D2A-1 HSALNG0033040
GH04J015078 Enhancer 0.9 Ensembl ENCODE 10.9 -387.0 -386960 9.4 CEBPA ATF3 YY1 CEBPB EP300 FOXA2 RXRA RAD21 RFX5 ZNF585B CC2D2A LINC00504 CPEB2-DT CPEB2 LINC01085 HSALNG0033042 RN7SKP170 lnc-FBXL5-11 C1QTNF7 C1QTNF7-AS1
GH04J014855 Enhancer 1.3 FANTOM5 Ensembl ENCODE 4.9 -611.9 -611859 4.4 BCLAF1 SP1 MYC JUND NFIC BCL11A CEBPB TRIM22 BHLHE40 MNT LINC01085 CPEB2 CC2D2A HSALNG0033034 LINC00504 piR-47211-510
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CC2D2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CC2D2A

Top Transcription factor binding sites by QIAGEN in the CC2D2A gene promoter:
  • C/EBPalpha
  • Evi-1
  • IRF-1
  • MIF-1
  • YY1

Genomic Locations for CC2D2A Gene

Latest Assembly
chr4:15,468,660-15,601,557
(GRCh38/hg38)
Size:
132,898 bases
Orientation:
Plus strand

Previous Assembly
chr4:15,471,489-15,603,180
(GRCh37/hg19 by Entrez Gene)
Size:
131,692 bases
Orientation:
Plus strand

chr4:15,471,489-15,603,180
(GRCh37/hg19 by Ensembl)
Size:
131,692 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=Truncated N-terminus.; 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

Gene Families for CC2D2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CC2D2A Gene

InterPro:
Blocks:
  • C2 domain

Suggested Antigen Peptide Sequences for CC2D2A Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil and C2 domain-containing protein 2A (C2D2A_HUMAN)
genes like me logo Genes that share domains with CC2D2A: view

No data available for Graphical View of Domain Structure 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).

Phenotypes From GWAS Catalog for CC2D2A Gene

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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CC2D2A

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
cytoskeleton 4
cytosol 4
nucleus 3
plasma membrane 2
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 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 IEA,ISS --
genes like me logo Genes that share ontologies with CC2D2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CC2D2A Gene

Pathways & Interactions for CC2D2A Gene

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

Pathways by source for CC2D2A Gene

Gene Ontology (GO) - Biological Process for CC2D2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0001843 neural tube closure IEA --
GO:0007224 smoothened signaling pathway IEA,ISS --
GO:0007368 determination of left/right symmetry IEA --
GO:0007507 heart development 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

mRNA/cDNA for CC2D2A Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CC2D2A

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

No ASD Table

Relevant External Links for CC2D2A Gene

GeneLoc Exon Structure for
CC2D2A

Expression for CC2D2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Thyroid gland(4.1)
  • Kidney(2.4)
  • Eye(2.2)

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
Regions:
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 for research

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 29 30
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CC2D2A 29 30
  • 88.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CC2D2A 29 30
  • 84.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cc2d2a 29 16 30
  • 84.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cc2d2a 29
  • 82.48 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CC2D2A 30
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CC2D2A 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CC2D2A 29 30
  • 72.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 79 (a)
OneToMany
-- 30
  • 74 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cc2d2a 29
  • 65.21 (n)
Str.4091 29
Zebrafish
(Danio rerio)
Actinopterygii cc2d2a 29 30
  • 60.7 (n)
OneToOne
wufc03c12 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009813 29
  • 45.29 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG43370 29 30
  • 40.91 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mks-6 30
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToOne
Species where no ortholog for CC2D2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CC2D2A: view image
Alliance of Genome Resources:
Additional Orthologs for CC2D2A

Paralogs for CC2D2A Gene

Paralogs for CC2D2A Gene

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

  • C2D2A_HUMAN
  • D6R9V3_HUMAN
  • H0Y941_HUMAN
  • L8EC73_HUMAN

Pseudogenes.org Pseudogenes for CC2D2A Gene

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

Variants for CC2D2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CC2D2A Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1000270 Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome 15,538,016(+) G/A
NM_001378615.1(CC2D2A):c.1882G>A (p.Ala628Thr)
MISSENSE
1000645 Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome 15,601,306(+) G/GGA
NM_001378615.1(CC2D2A):c.4746_4747dup (p.Val1583fs)
FRAMESHIFT
1001407 Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome 15,559,199(+) T/C
NM_001378615.1(CC2D2A):c.2864T>C (p.Ile955Thr)
MISSENSE
1002281 Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome 15,536,982(+) G/C
NM_001378615.1(CC2D2A):c.1670G>C (p.Ser557Thr)
MISSENSE
1002738 Uncertain Significance: Joubert syndrome; Meckel-Gruber syndrome 15,597,470(+) C/T
NM_001378615.1(CC2D2A):c.4496+5C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CC2D2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CC2D2A Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CC2D2A Gene

MalaCards: The human disease database

(67) MalaCards diseases for CC2D2A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
meckel syndrome, type 6
  • mks6
joubert syndrome 9
  • jbts9
coach syndrome 2
  • coach2
coach syndrome 1
  • coach1
arima syndrome
  • dekaban-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:18513680, ECO:0000269 PubMed:19466712, ECO:0000269 PubMed:24706459}. Note=The disease is caused by variants 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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for CC2D2A

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 … Kestilä M (American journal of human genetics 2008) 2 3 4 72
  2. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. (PMID: 22241855) Bachmann-Gagescu R … Doherty D (Journal of medical genetics 2012) 3 4 72
  3. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PMID: 19574260) Doherty D … Glass IA (Journal of medical genetics 2010) 3 4 72
  4. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. (PMID: 19777577) Mougou-Zerelli S … Attié-Bitach T (Human mutation 2009) 3 4 72
  5. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (PMID: 18950740) Gorden NT … Doherty D (American journal of human genetics 2008) 3 4 72

Products for CC2D2A Gene

Sources for CC2D2A Gene