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Aliases for NGEF Gene

Aliases for NGEF Gene

  • Neuronal Guanine Nucleotide Exchange Factor 2 3 4 5
  • Eph-Interacting Exchange Protein 3 4
  • Ephexin 2 3
  • Ephexin-1 3
  • ARHGEF27 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 p75 NTR receptor-mediated signalling and EPHA forward signaling. 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 ARHGEF5.

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 , CIViC 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

Enhancers for NGEF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G232900 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.5 +111.5 111475 1.8 TAF1 JUN MAX SIN3A RAD21 ZIC2 FOSL1 POLR2A SMC3 FOSL2 NGEF C2orf82 LOC101928881 INPP5D PIR45244
GH02G232899 1.1 FANTOM5 dbSUPER 31 +114.0 113967 0.4 MAX YBX1 PLRG1 RAD21 YY1 HNF4G TRIM22 MNT FOXA1 GABPA NGEF ENSG00000251485 C2orf82 LOC101928881 TIGD1 EFHD1 PIR45244
GH02G232880 1 dbSUPER 23.6 +132.3 132300 0.9 HNRNPUL1 FOXA2 ATF1 MLX ARID4B YY1 TCF12 SLC30A9 SP5 NFYC C2orf82 NGEF GIGYF2 LOC101928881 KCNJ13 ATG16L1 SCARNA5 PIR45244
GH02G232881 0.8 dbSUPER 24 +128.6 128589 5.4 CTCF ARNT ZSCAN4 MAX RAD21 YY1 TEAD3 POLR2A PCBP1 EZH2 NGEF C2orf82 INPP5D PIR45244 LOC101928881
GH02G233059 1.6 FANTOM5 ENCODE dbSUPER 11.5 -48.7 -48671 5.8 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 NEU2 NGEF ATG16L1 INPP5D GC02P233069
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NGEF on UCSC Golden Path with GeneCards custom track

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

Genes around NGEF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NGEF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

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.
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 TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NGEF gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0030426 growth cone IEA --
GO:0042995 cell projection 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

Gene Ontology (GO) - Biological Process for NGEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
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

Unigene Clusters for NGEF Gene

Neuronal guanine nucleotide exchange factor:
Representative Sequences:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NGEF Gene



Protein tissue co-expression partners for NGEF Gene

NURSA nuclear receptor signaling pathways regulating expression of NGEF Gene:

NGEF

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.

Evidence on tissue expression from TISSUES for NGEF Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with NGEF: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NGEF Gene

Orthologs for NGEF Gene

This gene was present in the common ancestor of animals.

Orthologs for NGEF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NGEF 34 35
  • 98.32 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NGEF 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NGEF 34 35
  • 90.49 (n)
oppossum
(Monodelphis domestica)
Mammalia NGEF 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NGEF 34 35
  • 88.74 (n)
rat
(Rattus norvegicus)
Mammalia Ngef 34
  • 88.41 (n)
mouse
(Mus musculus)
Mammalia Ngef 34 16 35
  • 83.62 (n)
chicken
(Gallus gallus)
Aves NGEF 34 35
  • 82.05 (n)
lizard
(Anolis carolinensis)
Reptilia NGEF 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ngef 34
  • 66.97 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC569090 34
  • 58.19 (n)
NGEF 35
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007452 34
  • 51.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH03693 36
  • 33 (a)
Exn 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K07D4.7a 36
  • 37 (a)
K07D4.7b 36
  • 37 (a)
ephx-1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for NGEF was found in the sources mined by GeneCards:
  • 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
rs1000005693 -- 232,992,287(+) TGGTG(A/G)TAGCT intron-variant
rs1000042828 -- 232,915,959(+) ATGCT(A/C)GGATT intron-variant
rs1000043556 -- 232,894,618(+) ATTTA(C/T)TTATA intron-variant
rs1000054984 -- 232,955,708(+) GAGAC(A/G)GGGTT intron-variant
rs1000074309 -- 232,961,217(+) TTAAT(C/T)TACTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2172n106 CNV deletion 24896259
dgv2358e59 CNV duplication 20981092
dgv4188n100 CNV gain 25217958
dgv633e201 CNV deletion 23290073
esv1028910 CNV insertion 17803354
esv1149653 CNV insertion 17803354
esv1438259 CNV deletion 17803354
esv1445847 CNV deletion 17803354
esv1592465 CNV deletion 17803354
esv1761461 CNV insertion 17803354
esv1789642 CNV deletion 17803354
esv23962 CNV gain 19812545
esv2443215 CNV deletion 19546169
esv2662638 CNV deletion 23128226
esv2721633 CNV deletion 23290073
esv2721634 CNV deletion 23290073
esv2721635 CNV deletion 23290073
esv2721637 CNV deletion 23290073
esv2721640 CNV deletion 23290073
esv2721641 CNV deletion 23290073
esv2721642 CNV deletion 23290073
esv2721643 CNV deletion 23290073
esv2721644 CNV deletion 23290073
esv2721645 CNV deletion 23290073
esv2721646 CNV deletion 23290073
esv3194 CNV loss 18987735
esv3389322 CNV insertion 20981092
esv3389683 CNV duplication 20981092
esv3594664 CNV loss 21293372
esv3594665 CNV loss 21293372
esv3594666 CNV loss 21293372
esv8097 CNV loss 19470904
esv8496 CNV loss 19470904
esv8770 CNV loss 19470904
nsv1009825 CNV gain 25217958
nsv1014548 CNV gain 25217958
nsv1071655 CNV deletion 25765185
nsv1073021 CNV deletion 25765185
nsv1110361 CNV duplication 24896259
nsv1114181 CNV deletion 24896259
nsv1116836 CNV deletion 24896259
nsv1132893 CNV insertion 24896259
nsv1142981 CNV tandem duplication 24896259
nsv1143068 CNV deletion 24896259
nsv477463 CNV novel sequence insertion 20440878
nsv518226 CNV loss 19592680
nsv518558 CNV loss 19592680
nsv834570 CNV gain 17160897
nsv953203 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for NGEF Gene.

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

Publications for NGEF Gene

  1. Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. (PMID: 10777665) Rodrigues N.R. … Davies K.E. (Genomics 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M. … Kaibuchi K. (J. Hum. Genet. 2010) 3 46 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for NGEF Gene

Sources for NGEF Gene

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