Efhd2 EF hand domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efhd2provided by MGI
Official Full Name: EF hand domain containing 2provided by MGI
Primary source: MGI:MGI:106504
See related: Ensembl:ENSMUSG00000040659 AllianceGenome:MGI:106504
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D4Wsu27e; 2600015J22Rik
Summary: Enables calcium ion binding activity. Predicted to be located in membrane raft. Is expressed in brain; embryo endoderm; extraembryonic component; gut; and heart. Orthologous to human EFHD2 (EF-hand domain family member D2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in duodenum adult (RPKM 142.8), small intestine adult (RPKM 133.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 74.75 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (141585453..141602231, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (141858142..141874920, complement)

Chromosome 4 - NC_000070.7 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?

EFHD2 regulates T cell receptor signaling and modulates T helper cell activation in early sepsis.
Title: EFHD2 regulates T cell receptor signaling and modulates T helper cell activation in early sepsis.
EFHD2 suppresses intestinal inflammation by blocking intestinal epithelial cell TNFR1 internalization and cell death.
Title: EFHD2 suppresses intestinal inflammation by blocking intestinal epithelial cell TNFR1 internalization and cell death.
miRNA-126a-3p participates in hippocampal memory via alzheimer's disease-related proteins.
Title: miRNA-126a-3p participates in hippocampal memory via alzheimer's disease-related proteins.
Calcium bursts allow rapid reorganization of EFhD2/Swip-1 cross-linked actin networks in epithelial wound closure.
Title: Calcium bursts allow rapid reorganization of EFhD2/Swip-1 cross-linked actin networks in epithelial wound closure.
EFhd2 brain interactome reveals its association with different cellular and molecular processes.
Title: EFhd2 brain interactome reveals its association with different cellular and molecular processes.
B Cell Speed and B-FDC Contacts in Germinal Centers Determine Plasma Cell Output via Swiprosin-1/EFhd2.
Title: B Cell Speed and B-FDC Contacts in Germinal Centers Determine Plasma Cell Output via Swiprosin-1/EFhd2.
Swiprosin-1/EFhD-2 Expression in Cardiac Remodeling and Post-Infarct Repair: Effect of Ischemic Conditioning.
Title: Swiprosin-1/EFhD-2 Expression in Cardiac Remodeling and Post-Infarct Repair: Effect of Ischemic Conditioning.
Study in LPS-induced or cecal ligation and puncture-induced sepsis in mice report that swiprosin-1 (also known as EFhd2) plays an important role in the macrophage immune response to sepsis in mice. Swiprosin-1 depletion causes higher mortality, more severe organ dysfunction, restrained macrophage recruitment in the lung and kidney, and attenuated inflammatory cytokine production.
Title: Swiprosin-1 deficiency impairs macrophage immune response of septic mice.
EFHD2 is an important regulator of T cell cytotoxicity and further studies should evaluate its role in T cell-mediated inflammation
Title: EF Hand Domain Family Member D2 Is Required for T Cell Cytotoxicity.
Together with our finding of severe hippocampal tauopathy in Efhd2 knockout mice, these data connect Efhd2 to impaired synaptic plasticity as present in Alzheimer's disease and identify a role of Efhd2 in neuronal survival and synaptic integration in the adult hippocampus
Title: Impact of Swiprosin-1/Efhd2 on Adult Hippocampal Neurogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

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

Endonuclease-mediated (4)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA960394 (e-PCR)
- UniSTS:207624

NoName (e-PCR)
- UniSTS:493130

D4Mit65 (e-PCR), detects polymorphism
- UniSTS:130182

RH125690 (e-PCR)
- UniSTS:142499

NoName (e-PCR)
- UniSTS:495061

RH125808 (e-PCR)
- UniSTS:162554

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in membrane raft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EF-hand domain-containing protein D2

Names: swiprosin-1

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_025994.3 → NP_080270.2 EF-hand domain-containing protein D2

See identical proteins and their annotated locations for NP_080270.2

Status: PROVISIONAL

Source sequence(s)

AK048475

Consensus CDS

CCDS18885.1

UniProtKB/Swiss-Prot

Q9D0P4, Q9D8Y0

UniProtKB/TrEMBL

Q8C845

Related

ENSMUSP00000044502.4, ENSMUST00000036854.4

Conserved Domains (2) summary

cd00051
Location:96 → 154

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam13499
Location:97 → 154

EF-hand_7; EF-hand domain pair