Cc2d2a coiled-coil and C2 domain containing 2A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cc2d2aprovided by MGI
Official Full Name: coiled-coil and C2 domain containing 2Aprovided by MGI
Primary source: MGI:MGI:1924487
See related: Ensembl:ENSMUSG00000039765 AllianceGenome:MGI:1924487
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
Also known as: b2b1035Clo; 5730509K17Rik
Summary: 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). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 4.8), cerebellum adult (RPKM 3.2) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B3; 5 23.78 cM

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (43819715..43898317)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (43662374..43740975)

Chromosome 5 - NC_000071.7 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?

Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
Title: Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis
Title: Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis.

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Variation

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Alleles

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

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to ciliary transition zone	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: coiled-coil and C2 domain-containing protein 2A

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_001359903.1 → NP_001346832.1 coiled-coil and C2 domain-containing protein 2A isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC140277, AC161536

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (2) summary

pfam15625
Location:646 → 819

CC2D2AN-C2; CC2D2A N-terminal C2 domain

cl14603
Location:1098 → 1136

C2; C2 domain
NM_001359904.1 → NP_001346833.1 coiled-coil and C2 domain-containing protein 2A isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC140277, AC161536

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:646 → 820

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 383

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1103 → 1141

C2; C2 domain
NM_001359905.1 → NP_001346834.1 coiled-coil and C2 domain-containing protein 2A isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a. Variants 4 and 5 both encode the same isoform (d).

Source sequence(s)

AC140277, AC161536

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:646 → 820

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 383

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1098 → 1136

C2; C2 domain
NM_001359906.1 → NP_001346835.1 coiled-coil and C2 domain-containing protein 2A isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a. Variants 4 and 5 both encode the same isoform (d).

Source sequence(s)

AC140277, AC161536

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:646 → 820

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 383

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1098 → 1136

C2; C2 domain
NM_172274.2 → NP_758478.1 coiled-coil and C2 domain-containing protein 2A isoform a

See identical proteins and their annotated locations for NP_758478.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

BC032290, CJ129212

Consensus CDS

CCDS39080.1

UniProtKB/Swiss-Prot

Q8BP57, Q8CFW7

UniProtKB/TrEMBL

F6YZ61

Related

ENSMUSP00000048320.9, ENSMUST00000048150.15

Conserved Domains (3) summary

COG1340
Location:377 → 551

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

pfam15625
Location:646 → 817

CC2D2AN-C2; CC2D2A N-terminal C2 domain

cl14603
Location:1103 → 1141

C2; C2 domain

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_000071.7 Reference GRCm39 C57BL/6J

Range

43819715..43898317

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036165058.1 → XP_036020951.1 coiled-coil and C2 domain-containing protein 2A isoform X7

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:676 → 850

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 413

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1133 → 1171

C2; C2 domain
XM_036165053.1 → XP_036020946.1 coiled-coil and C2 domain-containing protein 2A isoform X1

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:676 → 850

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 413

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1133 → 1171

C2; C2 domain
XM_036165055.1 → XP_036020948.1 coiled-coil and C2 domain-containing protein 2A isoform X2

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:676 → 850

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 413

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1128 → 1166

C2; C2 domain
XM_036165059.1 → XP_036020952.1 coiled-coil and C2 domain-containing protein 2A isoform X9

Conserved Domains (2) summary

pfam15625
Location:131 → 305

CC2D2AN-C2; CC2D2A N-terminal C2 domain

cl14603
Location:583 → 621

C2; C2 domain
XM_006503938.4 → XP_006504001.1 coiled-coil and C2 domain-containing protein 2A isoform X8

Conserved Domains (2) summary

pfam15625
Location:131 → 305

CC2D2AN-C2; CC2D2A N-terminal C2 domain

cl14603
Location:588 → 626

C2; C2 domain
XM_036165054.1 → XP_036020947.1 coiled-coil and C2 domain-containing protein 2A isoform X1

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:676 → 850

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 413

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1133 → 1171

C2; C2 domain
XM_006503934.5 → XP_006503997.1 coiled-coil and C2 domain-containing protein 2A isoform X3

See identical proteins and their annotated locations for XP_006503997.1

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:646 → 820

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 383

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1103 → 1141

C2; C2 domain
XM_030254387.2 → XP_030110247.1 coiled-coil and C2 domain-containing protein 2A isoform X3

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:646 → 820

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:137 → 383

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1103 → 1141

C2; C2 domain
XM_036165056.1 → XP_036020949.1 coiled-coil and C2 domain-containing protein 2A isoform X4

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:627 → 801

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:88 → 364

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1084 → 1122

C2; C2 domain
XM_006503936.4 → XP_006503999.1 coiled-coil and C2 domain-containing protein 2A isoform X5

UniProtKB/TrEMBL

F6YZ61

Conserved Domains (3) summary

pfam15625
Location:597 → 771

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:88 → 334

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1054 → 1092

C2; C2 domain
XM_036165057.1 → XP_036020950.1 coiled-coil and C2 domain-containing protein 2A isoform X6

UniProtKB/TrEMBL

F6YZ61

Related

ENSMUSP00000114349.3, ENSMUST00000125866.4

Conserved Domains (3) summary

pfam15625
Location:597 → 771

CC2D2AN-C2; CC2D2A N-terminal C2 domain

pfam17661
Location:88 → 334

DUF5523; Family of unknown function (DUF5523)

cl14603
Location:1049 → 1087

C2; C2 domain