Ccdc22 coiled-coil domain containing 22 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ccdc22provided by MGI
Official Full Name: coiled-coil domain containing 22provided by MGI
Primary source: MGI:MGI:1859608
See related: Ensembl:ENSMUSG00000031143 AllianceGenome:MGI:1859608
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: Sfc22; Ppp1r3f; DXImx40e
Summary: Predicted to enable cullin family protein binding activity. Predicted to be involved in several processes, including cytoplasmic sequestering of NF-kappaB; regulation of I-kappaB kinase/NF-kappaB signaling; and vesicle-mediated transport to the plasma membrane. Predicted to act upstream of or within cholesterol homeostasis and regulation of plasma lipoprotein particle levels. Predicted to be located in endosome. Human ortholog(s) of this gene implicated in Ritscher-Schinzel syndrome 2. Orthologous to human CCDC22 (coiled-coil domain containing 22). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E14 (RPKM 12.7), thymus adult (RPKM 12.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A1.1; X 3.42 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (7460048..7471659, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (7593809..7605420, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Identifies this protein as a copine-binding protein.
Title: Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136802 (e-PCR)
- UniSTS:218891

AI481216 (e-PCR)
- UniSTS:164663

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cullin family protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables cullin family protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol homeostasis	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cytoplasmic sequestering of NF-kappaB	ISO Inferred from Sequence Orthology more info
involved_in endocytic recycling	ISO Inferred from Sequence Orthology more info
involved_in intracellular copper ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of plasma lipoprotein particle levels	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: coiled-coil domain-containing protein 22

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.