Gene: CC2D2A

Alternate names for this Gene: JBTS9|MKS6

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p15.32

Description of this Gene: coiled-coil and C2 domain containing 2A

Type of Gene: protein-coding

rs118204052 in CC2D2A gene and COACH syndrome PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 21448235 2011 Clinical utility gene card for: Joubert syndrome.

rs200407856 in CC2D2A gene and Familial aplasia of the vermis PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

PMID 26485645 2015 The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 22241855 2012 Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 18950740 2008 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

PMID 27082236 2015 Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

rs1134634 in CC2D2A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs118204051 in CC2D2A gene and JOUBERT SYNDROME 9 (disorder) PMID 22246503 2012 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

PMID 22241855 2012 Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

PMID 18950740 2008 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 18387594 2008 CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs11728037 in CC2D2A gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs386833752 in CC2D2A gene and MECKEL SYNDROME, TYPE 6 (disorder) PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 24706459 2014 First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.

PMID 18513680 2008 Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.

rs1134634 in CC2D2A gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs200407856 in CC2D2A gene and Meckel-Gruber syndrome PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 22241855 2012 Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 18950740 2008 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

PMID 27082236 2015 Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

rs1553845569 in CC2D2A gene and Muscle hypotonia PMID 26729329 2016 Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

PMID 19058225 2009 MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 27959436 2017 Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.

rs7684446 in CC2D2A gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.