Efr3a EFR3 homolog A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Efr3aprovided by MGI
Official Full Name: EFR3 homolog Aprovided by MGI
Primary source: MGI:MGI:1923990
See related: Ensembl:ENSMUSG00000015002 AllianceGenome:MGI:1923990
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: mKIAA0143; A130089M23Rik; C920006C10Rik; D030063F01Rik
Summary: Predicted to enable protein homodimerization activity. Involved in synaptic vesicle priming. Located in plasma membrane. Is active in glutamatergic synapse. Is expressed in genitourinary system. Orthologous to human EFR3A (EFR3 homolog A). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 23.6), cortex adult (RPKM 17.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 D1; 15 29.12 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (65658852..65745661)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (65787020..65873812)

Chromosome 15 - NC_000081.7 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 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?

that brain-specific deletion of Efr3a could promote adult hippocampal neurogenesis, presumably by upregulating the expression of BDNF and its receptor
Title: Brain-specific ablation of Efr3a promotes adult hippocampal neurogenesis via the brain-derived neurotrophic factor pathway.
Study suggests that down-regulation of Efr3a might improve hearing function and alleviate the degeneration of spiral ganglion neurons in an early stage of senescence, probably via enhancing the basal expression of activated Akt
Title: The role of Efr3a in age-related hearing loss.
High expression of EFR3A may be important to prompt initiation of spiral ganglion degeneration following hair cell loss.
Title: Expression of EFR3A in the mouse cochlea during degeneration of spiral ganglion following hair cell loss.
A GENE encodes mouse homolog of KIAA0143 protein, one derived from a series of unidentified human genes. This gene termed mKIAA0143 shows differential expression of mRNA in the lateral superior olive between mice with hearing los and nornal mice.
Title: Mouse homolog of KIAA0143 protein: hearing deficit induces specific changes of expression in auditory brainstem neurons.

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Variation

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Alleles

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

Endonuclease-mediated (3)
Gene trapped (1)
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

BB071175 (e-PCR)
- UniSTS:186024

C76891 (e-PCR)
- UniSTS:160456

RH126052 (e-PCR)
- UniSTS:162764

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle priming	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in presynapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein EFR3 homolog 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.