Ngef neuronal guanine nucleotide exchange factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ngefprovided by MGI
Official Full Name: neuronal guanine nucleotide exchange factorprovided by MGI
Primary source: MGI:MGI:1858414
See related: Ensembl:ENSMUSG00000026259 AllianceGenome:MGI:1858414
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: Tims2; ephexin
Summary: Enables ephrin receptor binding activity. Involved in several processes, including ephrin receptor signaling pathway; negative regulation of dendritic spine morphogenesis; and synapse pruning. Is active in glutamatergic synapse. Is expressed in several structures, including brain; eye; female reproductive system; forelimb; and liver. Orthologous to human NGEF (neuronal guanine nucleotide exchange factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cortex adult (RPKM 59.5), frontal lobe adult (RPKM 38.3) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 44.42 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (87404551..87501661, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (87476829..87573870, complement)

Chromosome 1 - NC_000067.7 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?

We found ephexin1 essential for the development of limb nerves toward their muscle targets, concluding that it functions as an intermediary to relay Eph signaling in this context
Title: Ephexin1 Is Required for Eph-Mediated Limb Trajectory of Spinal Motor Axons.
These findings suggest that increased EphA4-ephexin1 signaling in the PFC plays a role in the pathophysiology of depression.
Title: Increased EphA4-ephexin1 signaling in the medial prefrontal cortex plays a role in depression-like phenotype.
An essential role is identified for rho guanine nucleotide exchange factor (RhoGEF) ephexin1 in the maturation of acetylcholine receptor clusters.
Title: Ephexin1 is required for structural maturation and neurotransmission at the neuromuscular junction.
FGFR-mediated phosphorylation of ephexin1 enhances the guanine nucleotide exchange activity toward RhoA without affecting the activity to Rac1 or Cdc42.
Title: Regulation of ephexin1, a guanine nucleotide exchange factor of Rho family GTPases, by fibroblast growth factor receptor-mediated tyrosine phosphorylation.

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Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ngef (e-PCR), detects polymorphism
- UniSTS:472860

Ngef (e-PCR), detects polymorphism
- UniSTS:164895

R74947 (e-PCR)
- UniSTS:125527

D2Bwg0886e (e-PCR), detects polymorphism
- UniSTS:142293

Tims2 (e-PCR), detects polymorphism
- UniSTS:144629

Tims2 (e-PCR), detects polymorphism
- UniSTS:144630

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ephrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in ephrin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of dendritic spine morphogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse pruning	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse pruning	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of synapse pruning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ephexin-1

Names: eph-interacting exchange protein; transforming immortalised mammary epithelial sequence 2

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_001111314.1 → NP_001104784.1 ephexin-1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).

Source sequence(s)

AC102564, AC157811, AI847102, AJ238898, AK138433

Consensus CDS

CCDS48307.1

UniProtKB/Swiss-Prot

Q8CHT1, Q8R204, Q923H2, Q9JHT9

UniProtKB/TrEMBL

E9QK62

Related

ENSMUSP00000066894.6, ENSMUST00000068681.12

Conserved Domains (5) summary

pfam02323
Location:3 → 156

ELH; Egg-laying hormone precursor

cd11939
Location:616 → 670

SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)

cd01221
Location:477 → 603

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

pfam00169
Location:490 → 596

PH; PH domain

pfam00621
Location:277 → 456

RhoGEF; RhoGEF domain
NM_019867.2 → NP_063920.2 ephexin-1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a different segment for its 5' UTR and 5' coding region, and lacks other coding region exons, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1.

Source sequence(s)

AI847102, AJ238898, AK138433, CJ149200

Consensus CDS

CCDS48306.1

UniProtKB/Swiss-Prot

Q8CHT1, Q8R204, Q923H2, Q9JHT9

Related

ENSMUSP00000027477.9, ENSMUST00000027477.15

Conserved Domains (4) summary

cd11939
Location:526 → 580

SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)

cd01221
Location:387 → 513

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

pfam00169
Location:400 → 506

PH; PH domain

pfam00621
Location:187 → 366

RhoGEF; RhoGEF 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_000067.7 Reference GRCm39 C57BL/6J

Range

87404551..87501661 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152417.1 → XP_036008310.1 ephexin-1 isoform X1

Conserved Domains (3) summary

cd11939
Location:339 → 393

SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)

cd01221
Location:200 → 326

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

pfam00621
Location:1 → 178

RhoGEF; RhoGEF domain
XM_036152419.1 → XP_036008312.1 ephexin-1 isoform X2

Conserved Domains (1) summary

pfam00621
Location:277 → 381

RhoGEF; RhoGEF domain