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NGEF neuronal guanine nucleotide exchange factor [ Homo sapiens (human) ]

Gene ID: 25791, updated on 1-Mar-2024

Summary

Official Symbol
NGEFprovided by HGNC
Official Full Name
neuronal guanine nucleotide exchange factorprovided by HGNC
Primary source
HGNC:HGNC:7807
See related
Ensembl:ENSG00000066248 MIM:605991; AllianceGenome:HGNC:7807
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EPHEXIN; ARHGEF27
Summary
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; ephrin receptor signaling pathway; and negative regulation of dendritic spine morphogenesis. Predicted to be located in cytosol. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 32.1), duodenum (RPKM 14.9) and 8 other tissues See more
Orthologs
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Genomic context

See NGEF in Genome Data Viewer
Location:
2q37.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (232878701..233013256, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233365384..233500670, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233743411..233877966, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene RNA, U6 small nuclear 107, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233736904-233737669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233755984-233756593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233756594-233757202 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233765119-233765744 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:233766250-233767449 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:233769412-233770057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233770058-233770702 Neighboring gene secondary ossification center associated regulator of chondrocyte maturation Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17327 Neighboring gene uncharacterized LOC101928881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233926783-233927376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233927377-233927970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233937995-233938700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17331 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17332 Neighboring gene Sharpr-MPRA regulatory region 10619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233953501-233954000 Neighboring gene neuraminidase 2 Neighboring gene inositol polyphosphate-5-phosphatase D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233972121-233972622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233972623-233973122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233982267-233982860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:233987251-233987751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233988888-233989435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:233989436-233989982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233993677-233994176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234072305-234072918 Neighboring gene RNA, 7SL, cytoplasmic 32, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
EBI GWAS Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of neuronal guanine nucleotide exchange factor (NGEF) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity EXP
Inferred from Experiment
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
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
 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in ephrin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in negative regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ephexin-1
Names
eph-interacting exchange protein
ephexin1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001114090.2NP_001107562.1  ephexin-1 isoform 2

    See identical proteins and their annotated locations for NP_001107562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC016692, BC031573, BC073962, BX431262
    Consensus CDS
    CCDS46544.1
    UniProtKB/TrEMBL
    B4DV69
    Related
    ENSP00000362653.4, ENST00000373552.8
    Conserved Domains (3) summary
    cd11939
    Location:524578
    SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)
    cd01221
    Location:385511
    PH_ephexin; Ephexin Pleckstrin homology (PH) domain
    pfam00621
    Location:185363
    RhoGEF; RhoGEF domain
  2. NM_019850.3NP_062824.2  ephexin-1 isoform 1

    See identical proteins and their annotated locations for NP_062824.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC016692, AC106876, BC031573, BC073962, BX431262, DB242442, DC388448
    Consensus CDS
    CCDS2500.1
    UniProtKB/Swiss-Prot
    B4DMB8, B9A045, E9PC42, Q53QQ4, Q53ST7, Q6GMQ5, Q8N5V2, Q9NQD6
    UniProtKB/TrEMBL
    A0A2X0SG27
    Related
    ENSP00000264051.3, ENST00000264051.8
    Conserved Domains (4) summary
    cd11939
    Location:616670
    SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)
    cd01221
    Location:477603
    PH_ephexin; Ephexin Pleckstrin homology (PH) domain
    pfam00169
    Location:490596
    PH; PH domain
    pfam00621
    Location:277456
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    232878701..233013256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510923.4XP_011509225.1  ephexin-1 isoform X1

    See identical proteins and their annotated locations for XP_011509225.1

    UniProtKB/Swiss-Prot
    B4DMB8, B9A045, E9PC42, Q53QQ4, Q53ST7, Q6GMQ5, Q8N5V2, Q9NQD6
    UniProtKB/TrEMBL
    A0A2X0SG27
    Conserved Domains (4) summary
    cd11939
    Location:616670
    SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)
    cd01221
    Location:477603
    PH_ephexin; Ephexin Pleckstrin homology (PH) domain
    pfam00169
    Location:490596
    PH; PH domain
    pfam00621
    Location:277456
    RhoGEF; RhoGEF domain
  2. XM_047443880.1XP_047299836.1  ephexin-1 isoform X2

    UniProtKB/TrEMBL
    B4DV69
  3. XM_011510924.2XP_011509226.1  ephexin-1 isoform X3

    See identical proteins and their annotated locations for XP_011509226.1

    UniProtKB/TrEMBL
    B4DDI2
    Conserved Domains (4) summary
    cd11939
    Location:339393
    SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)
    cd01221
    Location:200326
    PH_ephexin; Ephexin Pleckstrin homology (PH) domain
    pfam00169
    Location:213319
    PH; PH domain
    pfam00621
    Location:1179
    RhoGEF; RhoGEF domain
  4. XM_011510925.2XP_011509227.1  ephexin-1 isoform X3

    See identical proteins and their annotated locations for XP_011509227.1

    UniProtKB/TrEMBL
    B4DDI2
    Conserved Domains (4) summary
    cd11939
    Location:339393
    SH3_ephexin1; Src homology 3 domain of the Rho guanine nucleotide exchange factor, ephexin-1 (also called NGEF or ARHGEF27)
    cd01221
    Location:200326
    PH_ephexin; Ephexin Pleckstrin homology (PH) domain
    pfam00169
    Location:213319
    PH; PH domain
    pfam00621
    Location:1179
    RhoGEF; RhoGEF domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    233365384..233500670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341301.1XP_054197276.1  ephexin-1 isoform X1

    UniProtKB/TrEMBL
    A0A2X0SG27
  2. XM_054341302.1XP_054197277.1  ephexin-1 isoform X2

    UniProtKB/TrEMBL
    B4DV69
  3. XM_054341303.1XP_054197278.1  ephexin-1 isoform X3

    UniProtKB/TrEMBL
    B4DDI2
  4. XM_054341304.1XP_054197279.1  ephexin-1 isoform X3

    UniProtKB/TrEMBL
    B4DDI2