C2cd3 C2 calcium-dependent domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C2cd3provided by MGI
Official Full Name: C2 calcium-dependent domain containing 3provided by MGI
Primary source: MGI:MGI:2142166
See related: Ensembl:ENSMUSG00000047248 AllianceGenome:MGI:2142166
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Involved in centriole elongation. Acts upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and protein localization to centrosome. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including alimentary system mesenchyme; brain; face; oral epithelium; and perichondrium. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XIV. Orthologous to human C2CD3 (C2 domain containing 3 centriole elongation regulator). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 8.4), thymus adult (RPKM 7.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E2; 7 54.35 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (100021440..100119366)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (100372229..100470159)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning.
Title: The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning.
results suggest that C2cd3 regulates cilium biogenesis by promoting the assembly of centriolar distal appendages critical for docking ciliary vesicles and recruiting other essential ciliogenic proteins
Title: C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals.
Furthering a link between Hedgehog signaling and cilia function, we find that cilia formation and proteolytic processing of Gli3 are disrupted in C2cd3 mutants.
Title: C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (4) 1 citation
Gene trapped (1) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU020772 (e-PCR), detects polymorphism
- UniSTS:498219

RH136566 (e-PCR)
- UniSTS:210546

AA960618 (e-PCR)
- UniSTS:179612

NoName (e-PCR)
- UniSTS:235718

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centriole elongation	IBA Inferred from Biological aspect of Ancestor more info
involved_in centriole elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in centriole elongation	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural plate axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in non-motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to centrosome	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to centrosome	ISO Inferred from Sequence Orthology more info
involved_in protein localization to centrosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in centriole	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: C2 domain-containing protein 3

Names: protein hearty

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001017985.3 → NP_001017985.2 C2 domain-containing protein 3

See identical proteins and their annotated locations for NP_001017985.2

Status: VALIDATED

Source sequence(s)

AC117215, AC122269, AC151839

Consensus CDS

CCDS57568.1

UniProtKB/Swiss-Prot

E9QL99, Q3UFQ3, Q52KB6, Q80V48, Q8BXE5

UniProtKB/TrEMBL

E9Q526

Related

ENSMUSP00000062637.8, ENSMUST00000051777.15

Conserved Domains (2) summary

cd00030
Location:1660 → 1728

C2; C2 domain

cd08683
Location:1183 → 1325

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

100021440..100119366

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030242644.2 → XP_030098504.1 C2 domain-containing protein 3 isoform X2

UniProtKB/TrEMBL

E9Q526

Related

ENSMUSP00000095859.5, ENSMUST00000098259.11

Conserved Domains (2) summary

cd08683
Location:1183 → 1325

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

pfam00168
Location:1660 → 1728

C2; C2 domain
XM_030242643.2 → XP_030098503.1 C2 domain-containing protein 3 isoform X1

UniProtKB/TrEMBL

E9Q526

Conserved Domains (2) summary

cd08683
Location:977 → 1119

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

pfam00168
Location:1454 → 1522

C2; C2 domain
XM_006507908.5 → XP_006507971.1 C2 domain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_006507971.1

UniProtKB/TrEMBL

E9Q526

Conserved Domains (2) summary

cd08683
Location:977 → 1119

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

pfam00168
Location:1454 → 1522

C2; C2 domain
XM_030242646.2 → XP_030098506.1 C2 domain-containing protein 3 isoform X3

Conserved Domains (2) summary

cd08683
Location:720 → 862

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

pfam00168
Location:1197 → 1265

C2; C2 domain
XM_011241827.4 → XP_011240129.1 C2 domain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_011240129.1

UniProtKB/TrEMBL

E9Q526

Conserved Domains (2) summary

cd08683
Location:977 → 1119

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

pfam00168
Location:1454 → 1522

C2; C2 domain
XM_030242645.2 → XP_030098505.1 C2 domain-containing protein 3 isoform X3

Conserved Domains (2) summary

cd08683
Location:720 → 862

C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

pfam00168
Location:1197 → 1265

C2; C2 domain