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Aliases for NGEF Gene

Aliases for NGEF Gene

  • Neuronal Guanine Nucleotide Exchange Factor 2 3 4
  • Eph-Interacting Exchange Protein 3 4
  • ARHGEF27 3
  • Ephexin 2
  • EPHEXIN 3

External Ids for NGEF Gene

Previous GeneCards Identifiers for NGEF Gene

  • GC02M231800
  • GC02M232472
  • GC02M233707
  • GC02M233945
  • GC02M233568
  • GC02M233451
  • GC02M225592

Summaries for NGEF Gene

GeneCards Summary for NGEF Gene

NGEF (Neuronal Guanine Nucleotide Exchange Factor) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Developmental Biology. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF19.

UniProtKB/Swiss-Prot for NGEF Gene

  • Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NGEF Gene

Genomics for NGEF Gene

Regulatory Elements for NGEF Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NGEF Gene

Chromosome:
2
Start:
232,878,686 bp from pter
End:
233,013,272 bp from pter
Size:
134,587 bases
Orientation:
Minus strand

Genomic View for NGEF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NGEF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NGEF Gene

Proteins for NGEF Gene

  • Protein details for NGEF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5V2-NGEF_HUMAN
    Recommended name:
    Ephexin-1
    Protein Accession:
    Q8N5V2
    Secondary Accessions:
    • B4DMB8
    • B9A045
    • E9PC42
    • Q53QQ4
    • Q53ST7
    • Q6GMQ5
    • Q9NQD6

    Protein attributes for NGEF Gene

    Size:
    710 amino acids
    Molecular mass:
    82496 Da
    Quaternary structure:
    • Interacts with CDK5R1 and EPHA4; activated by EPHA4 through the CDK5 kinase.
    SequenceCaution:
    • Sequence=AAH73962.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAX93288.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC00686.1; Type=Frameshift; Positions=156; Evidence={ECO:0000305};

    Alternative splice isoforms for NGEF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NGEF Gene

Proteomics data for NGEF Gene at MOPED

Post-translational modifications for NGEF Gene

  • Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity toward RHOA. Phosphorylation by CDK5 upon EPHA4 activation by EFNA1 may regulate dendritic spine morphogenesis (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NGEF Gene

No data available for DME Specific Peptides for NGEF Gene

Domains & Families for NGEF Gene

Gene Families for NGEF Gene

Protein Domains for NGEF Gene

Graphical View of Domain Structure for InterPro Entry

Q8N5V2

UniProtKB/Swiss-Prot:

NGEF_HUMAN :
  • The DH domain and the PH domain are both required to mediate interaction with EPHA4.
Domain:
  • The DH domain and the PH domain are both required to mediate interaction with EPHA4.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 SH3 domain.
genes like me logo Genes that share domains with NGEF: view

Function for NGEF Gene

Molecular function for NGEF Gene

UniProtKB/Swiss-Prot Function:
Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity).

Gene Ontology (GO) - Molecular Function for NGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity EXP --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NGEF: view
genes like me logo Genes that share phenotypes with NGEF: view

Animal Models for NGEF Gene

MGI Knock Outs for NGEF:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NGEF

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for NGEF Gene

Localization for NGEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for NGEF Gene

Cytoplasm. Membrane. Cell projection, growth cone. Note=Associated with membranes. Localizes to axonal growth cones (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NGEF Gene COMPARTMENTS Subcellular localization image for NGEF gene
Compartment Confidence
cytosol 4
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with NGEF: view

Pathways & Interactions for NGEF Gene

genes like me logo Genes that share pathways with NGEF: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007411 axon guidance TAS --
GO:0009987 cellular process --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with NGEF: view

No data available for SIGNOR curated interactions for NGEF Gene

Drugs & Compounds for NGEF Gene

(3) Drugs for NGEF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with NGEF: view

Transcripts for NGEF Gene

mRNA/cDNA for NGEF Gene

(5) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NGEF Gene

Neuronal guanine nucleotide exchange factor:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NGEF

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NGEF Gene

No ASD Table

Relevant External Links for NGEF Gene

GeneLoc Exon Structure for
NGEF
ECgene alternative splicing isoforms for
NGEF

Expression for NGEF Gene

mRNA expression in normal human tissues for NGEF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NGEF Gene

This gene is overexpressed in Brain - Cortex (x8.2), Brain - Putamen (basal ganglia) (x8.0), Brain - Nucleus accumbens (basal ganglia) (x6.5), Brain - Frontal Cortex (BA9) (x6.5), Brain - Caudate (basal ganglia) (x6.0), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for NGEF Gene

This gene is overexpressed in Frontal cortex (43.3), Plasma (13.2), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NGEF Gene



SOURCE GeneReport for Unigene cluster for NGEF Gene Hs.97316

mRNA Expression by UniProt/SwissProt for NGEF Gene

Q8N5V2-NGEF_HUMAN
Tissue specificity: Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala and hippocampus. Also detected in lung.
genes like me logo Genes that share expression patterns with NGEF: view

Protein tissue co-expression partners for NGEF Gene

Primer Products

In Situ Assay Products

Orthologs for NGEF Gene

This gene was present in the common ancestor of animals.

Orthologs for NGEF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NGEF 35
  • 88.74 (n)
  • 92.57 (a)
NGEF 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NGEF 35
  • 90.49 (n)
  • 93.96 (a)
NGEF 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ngef 35
  • 83.62 (n)
  • 86.44 (a)
Ngef 16
Ngef 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NGEF 35
  • 98.32 (n)
  • 98.48 (a)
NGEF 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ngef 35
  • 88.41 (n)
  • 95.01 (a)
oppossum
(Monodelphis domestica)
Mammalia NGEF 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NGEF 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves NGEF 35
  • 82.05 (n)
  • 91.1 (a)
NGEF 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NGEF 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ngef 35
  • 66.97 (n)
  • 65.49 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC569090 35
  • 58.19 (n)
  • 52.34 (a)
NGEF 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH03693 37
  • 33 (a)
Exn 36
  • 10 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007452 35
  • 51.39 (n)
  • 38.66 (a)
worm
(Caenorhabditis elegans)
Secernentea K07D4.7a 37
  • 37 (a)
K07D4.7b 37
  • 37 (a)
ephx-1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for NGEF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NGEF Gene

ENSEMBL:
Gene Tree for NGEF (if available)
TreeFam:
Gene Tree for NGEF (if available)

Paralogs for NGEF Gene

Paralogs for NGEF Gene

genes like me logo Genes that share paralogs with NGEF: view

Variants for NGEF Gene

Sequence variations from dbSNP and Humsavar for NGEF Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2921705 -- 232,927,855(+) gcggg(A/G)gcggc intron-variant
rs2944590 -- 232,927,497(+) GCTCC(A/G)ACAGC intron-variant
rs2944591 -- 232,930,111(+) tcagc(C/T)gcgtg upstream-variant-2KB, intron-variant
rs3038710 -- 232,896,054(+) ATACT(-/CCTCGACT)TAGGG intron-variant
rs3038717 -- 232,926,339(+) AGCGA(-/TTT)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NGEF Gene

Variant ID Type Subtype PubMed ID
nsv834570 CNV Gain 17160897
esv1028910 CNV Insertion 17803354
esv2721633 CNV Deletion 23290073
esv2721634 CNV Deletion 23290073
esv2443215 CNV Deletion 19546169
esv2721635 CNV Deletion 23290073
dgv676e201 CNV Deletion 23290073
esv2721637 CNV Deletion 23290073
esv2721640 CNV Deletion 23290073
esv1592465 CNV Deletion 17803354
esv3194 CNV Deletion 18987735
esv8097 CNV Loss 19470904
esv1438259 CNV Deletion 17803354
esv2721641 CNV Deletion 23290073
esv2721642 CNV Deletion 23290073
esv2721643 CNV Deletion 23290073
esv1789642 CNV Deletion 17803354
esv8770 CNV Loss 19470904
esv2721644 CNV Deletion 23290073
esv2721645 CNV Deletion 23290073
esv1445847 CNV Deletion 17803354
nsv518226 CNV Loss 19592680
nsv876009 CNV Gain 21882294
nsv876010 CNV Gain 21882294
nsv876011 CNV Gain 21882294
nsv518558 CNV Loss 19592680
esv2662638 CNV Deletion 23128226
esv23962 CNV Gain 19812545
esv269482 CNV Insertion 20981092
esv274441 CNV Insertion 20981092
esv8496 CNV Loss 19470904
esv1761461 CNV Insertion 17803354
esv2721646 CNV Deletion 23290073
esv1149653 CNV Insertion 17803354

Variation tolerance for NGEF Gene

Residual Variation Intolerance Score: 6.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NGEF Gene

HapMap Linkage Disequilibrium report
NGEF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NGEF Gene

Disorders for NGEF Gene

Relevant External Links for NGEF

Genetic Association Database (GAD)
NGEF
Human Genome Epidemiology (HuGE) Navigator
NGEF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NGEF
genes like me logo Genes that share disorders with NGEF: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NGEF Gene

Publications for NGEF Gene

  1. High content screening of cortical neurons identifies novel regulators of axon growth. (PMID: 20159039) Blackmore M.G. … Lemmon V.P. (Mol. Cell. Neurosci. 2010) 23 67
  2. Calcium-regulated exocytosis in neuroendocrine cells: intersectin-1L stimulates actin polymerization and exocytosis by activating Cdc42. (PMID: 19161392) Momboisse F. … Gasman S. (Ann. N. Y. Acad. Sci. 2009) 23 67
  3. A presynaptic homeostatic signaling system composed of the Eph receptor, ephexin, Cdc42, and CaV2.1 calcium channels. (PMID: 19249276) Frank C.A. … Davis G.W. (Neuron 2009) 23 67
  4. Intersectin-1L nucleotide exchange factor regulates secretory granule exocytosis by activating Cdc42. (PMID: 16874303) Malacombe M. … Gasman S. (EMBO J. 2006) 23 67
  5. EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. (PMID: 11336673) Shamah S.M. … Greenberg M.E. (Cell 2001) 23 67

Products for NGEF Gene

Sources for NGEF Gene

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