Cc2d2a - coiled-coil and C2 domain containing 2A Gene

Also Known as b2b1035Clo; 5730509K17Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 231214

Summary

Involved in cilium assembly and protein localization to ciliary transition zone. Acts upstream of or within several processes, including animal organ development; cilium assembly; and neural tube closure. Located in ciliary transition zone. Part of MKS complex. Used to study Meckel syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A). [provided by Alliance of Genome Resources, Apr 2022]

Cc2d2a Products (5)

mRNA Protein Name
NM_001359903.1 NP_001346832.1 coiled-coil and C2 domain-containing protein 2A isoform b
NM_001359904.1 NP_001346833.1 coiled-coil and C2 domain-containing protein 2A isoform c
NM_001359905.1 NP_001346834.1 coiled-coil and C2 domain-containing protein 2A isoform d
NM_001359906.1 NP_001346835.1 coiled-coil and C2 domain-containing protein 2A isoform d
NM_172274.2 NP_758478.1 coiled-coil and C2 domain-containing protein 2A isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22179047 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within axoneme assembly IMP
IMP: Inferred from mutant phenotype
24947469 MGI
acts upstream of or within camera-type eye development IMP
IMP: Inferred from mutant phenotype
24947469 MGI
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
21725307 MGI
acts upstream of or within determination of left/right symmetry IMP
IMP: Inferred from mutant phenotype
24947469 MGI
acts upstream of or within embryonic brain development IMP
IMP: Inferred from mutant phenotype
24947469 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
25807483 MGI
acts upstream of or within kidney development IMP
IMP: Inferred from mutant phenotype
27002738 MGI
acts upstream of or within motile cilium assembly IMP
IMP: Inferred from mutant phenotype
24947469 MGI
acts upstream of or within neural tube closure IMP
IMP: Inferred from mutant phenotype
24947469 MGI
acts upstream of or within non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
24947469 MGI
involved in protein localization to ciliary transition zone IMP
IMP: Inferred from mutant phenotype
26982032 MGI
acts upstream of or within smoothened signaling pathway IMP
IMP: Inferred from mutant phenotype
22179047 MGI
involved in smoothened signaling pathway IMP
IMP: Inferred from mutant phenotype
22179047 MGI
Cellular Component GO Annotation Evidence References Source
part of MKS complex IDA
IDA: Inferred from direct assay
21725307 MGI
located in ciliary transition zone IDA
IDA: Inferred from direct assay
22179047 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

coiled-coil and C2 domain-containing protein 2A

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02019 CC2D2A Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Cc2d2a NCBI NCBI:57545