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

Gene ID: 53972, updated on 27-Nov-2024

Summary

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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 ephrin receptor signaling pathway; negative regulation of dendritic spine morphogenesis; and regulation of synapse pruning. Is active in glutamatergic synapse. Is expressed in several structures, including brain; chondrocranium; genitourinary system; heart valve; and liver. Orthologous to human NGEF (neuronal guanine nucleotide exchange factor). [provided by Alliance of Genome Resources, Nov 2024]
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

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See Ngef in Genome Data Viewer
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_000067.7Genomic Context describing neighboring genes Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene potassium inwardly-rectifying channel, subfamily J, member 13 Neighboring gene STARR-seq mESC enhancer starr_01615 Neighboring gene secondary ossification center associated regulator of chondrocyte maturation Neighboring gene predicted gene 6153 Neighboring gene predicted gene, 46099 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:89504315-89504498 Neighboring gene neuraminidase 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:89523069-89523293 Neighboring gene STARR-positive B cell enhancer ABC_E2553 Neighboring gene inositol polyphosphate-5-phosphatase D Neighboring gene STARR-seq mESC enhancer starr_01618 Neighboring gene STARR-seq mESC enhancer starr_01619 Neighboring gene predicted gene, 33470

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Src family kinases are involved in EphA receptor-mediated retinal axon guidance. Knöll B, et al. J Neurosci, 2004 Jul 14. PMID 15254079, Free PMC Article
  2. Ephexin1 is required for structural maturation and neurotransmission at the neuromuscular junction. Shi L, et al. Neuron, 2010 Jan 28. PMID 20152127, Free PMC Article
  3. Increased EphA4-ephexin1 signaling in the medial prefrontal cortex plays a role in depression-like phenotype. Zhang JC, et al. Sci Rep, 2017 Aug 2. PMID 28769056, Free PMC Article
  4. EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. Shamah SM, et al. Cell, 2001 Apr 20. PMID 11336673
  5. Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. Rodrigues NR, et al. Genomics, 2000 Apr 1. PMID 10777665

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 IEA
Inferred from Electronic Annotation
more info
  
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of dendritic spine morphogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in 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 actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
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 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 growth cone IEA
Inferred from Electronic Annotation
more info
  
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)

  1. 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

  2. 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

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    87404551..87501661 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_036152419.1 → XP_036008312.1  ephexin-1 isoform X2

    Conserved Domains (1) summary
    pfam00621
    Location:277 → 381
    RhoGEF; RhoGEF domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CHT1.1 GenPept UniProtKB/Swiss-Prot:Q8CHT1

Gene LinkOut

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