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

    Gene ID: 53972, updated on 2-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 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?
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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