C2cd4a C2 calcium-dependent domain containing 4A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C2cd4aprovided by MGI
Official Full Name: C2 calcium-dependent domain containing 4Aprovided by MGI
Primary source: MGI:MGI:3645763
See related: Ensembl:ENSMUSG00000047990 AllianceGenome:MGI:3645763
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: Fam148a; EG244911
Summary: Predicted to be involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Predicted to be located in nucleus. Is expressed in embryo; islets of Langerhans; and pancreas. Orthologous to human C2CD4A (C2 calcium dependent domain containing 4A). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in stomach adult (RPKM 130.0), colon adult (RPKM 20.0) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 C; 9 36.77 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (67737814..67739612, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (67830532..67832330, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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 present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved.
Title: Changes in the expression of the type 2 diabetes-associated gene VPS13C in the β-cell are associated with glucose intolerance in humans and mice.

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Variation

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Alleles

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

Endonuclease-mediated (2)

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in positive regulation of acute inflammatory response	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in regulation of vascular permeability involved in acute inflammatory response	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: C2 calcium-dependent domain-containing protein 4A

Names: family with sequence similarity 148, member A

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_001163143.1 → NP_001156615.1 C2 calcium-dependent domain-containing protein 4A

Status: VALIDATED

Source sequence(s)

AC156799

Consensus CDS

CCDS52850.1

UniProtKB/TrEMBL

E9Q861

Related

ENSMUSP00000058286.6, ENSMUST00000054500.7