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C2 domain containing 3 centriole elongation regulator

Summary

Gene Symbol

C2CD3

Organism

Homo sapiens (human)

External Links

NCBI Gene

26005

KEGG Gene ID

PubChem

26005

Alliance of Genome Resources

HGNC:24564

Annotation

Keyword

Alternative splicing
Cell projection
Ciliopathy
Cilium biogenesis/degradation
Cytoskeleton
Disease variant
Intellectual disability
Phosphoprotein
Proteomics identification
Reference proteome
Repeat

Proteins

Displaying 1 entry
UniProt	Protein Name
Q4AC94

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
in utero embryonic development
heart looping
brain development
regulation of smoothened signaling pathway
protein processing

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing

protein maturation [inference]

protein processing

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing

protein maturation [inference]

protein processing

cell cycle process [inference]

centriole elongation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

multicellular organismal process [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

pattern specification process [inference]

axis specification [inference]

embryonic axis specification [inference]

neural plate axis specification

embryonic pattern specification [inference]

embryonic axis specification [inference]

neural plate axis specification

developmental process [inference]

anatomical structure morphogenesis [inference]

tube morphogenesis [inference]

epithelial tube morphogenesis [inference]

embryonic heart tube morphogenesis [inference]

heart looping

embryonic morphogenesis [inference]

embryonic heart tube morphogenesis [inference]

heart looping

embryonic digit morphogenesis

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

epithelial tube morphogenesis [inference]

embryonic heart tube morphogenesis [inference]

heart looping

anatomical structure development [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

tissue development [inference]

epithelium development [inference]

neural tube development

tube development [inference]

neural tube development

animal organ development [inference]

brain development

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein localization to organelle [inference]

protein localization to cytoskeleton [inference]

protein localization to microtubule cytoskeleton [inference]

protein localization to microtubule organizing center [inference]

protein localization to centrosome

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway

regulation of metabolic process [inference]

regulation of macromolecule metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
centrosome	IDA
centriole	IDA
centriole	IBA
centriole	IEA
microtubule organizing center	IBA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

microtubule organizing center

organelle [inference]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

centriole

intracellular organelle [inference]

intracellular membraneless organelle [inference]

centriole

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060958	orofaciodigital syndrome XIV	Alliance of Genome Resources

Ortholog

Displaying 1 entry
Species	Gene ID	Alliance of Genome Resources
Mus musculus	277939	MGI:2142166

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Annotation

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Acknowledgements