Gene Ontology Classifications

Symbol
Name
ID

Cc2d2a
coiled-coil and C2 domain containing 2A
MGI:1924487

Go Annotations as Summary Text (Tabular View) (GO Graph)

Automated description from the Alliance of Genome Resources (Release 7.4.0)

Involved in cilium assembly; protein localization to ciliary transition zone; and smoothened signaling pathway. Acts upstream of or within several processes, including cilium assembly; embryonic brain development; and neural tube closure. Located in ciliary transition zone. Part of MKS complex. Is expressed in embryo and secondary heart field. Used to study Meckel syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A).

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Aspect

Category

Evidence

Gene Ontology Evidence Code Abbreviations:

Experimental:

EXP: Inferred from experiment
HMP: Inferred from high throughput mutant phenotype
HGI: Inferred from high throughput genetic interaction
HDA: Inferred from high throughput direct assay
HEP: Inferred from high throughput expression pattern
IDA: Inferred from direct assay
IEP: Inferred from expression pattern
IGI: Inferred from genetic interaction
IMP: Inferred from mutant phenotype
IPI: Inferred from physical interaction

Homology:

IAS: Inferred from ancestral sequence
IBA: Inferred from biological aspect of ancestor
IBD: Inferred from biological aspect of descendant
IKR: Inferred from key residues
IMR: Inferred from missing residues
IRD: Inferred from rapid divergence
ISA: Inferred from sequence alignment
ISM: Inferred from sequence model
ISO: Inferred from sequence orthology
ISS: Inferred from sequence or structural similarity

Automated:

IEA: Inferred from electronic annotation
RCA: Reviewed computational analysis

Other:

IC: Inferred by curator
NAS: Non-traceable author statement
ND: No biological data available
TAS: Traceable author statement

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Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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