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

Gene ID: 25791, updated on 1-Jun-2020

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
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
Expression
Biased expression in brain (RPKM 32.1), duodenum (RPKM 14.9) and 8 other tissues See more
Orthologs

Genomic context

See NGEF in Genome Data Viewer
Location:
2q37.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (232878686..233013256, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233743396..233877951, 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 potassium inwardly rectifying channel subfamily J member 13 Neighboring gene secondary ossification center associated regulator of chondrocyte maturation Neighboring gene uncharacterized LOC101928881 Neighboring gene neuraminidase 2 Neighboring gene inositol polyphosphate-5-phosphatase D 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

NHGRI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
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)

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/Swiss-Prot
    Q8N5V2
    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
    Q8N5V2
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    232878686..233013256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510923.3XP_011509225.1  ephexin-1 isoform X1

    See identical proteins and their annotated locations for XP_011509225.1

    UniProtKB/Swiss-Prot
    Q8N5V2
    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_011510924.1XP_011509226.1  ephexin-1 isoform X2

    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
  3. XM_011510925.1XP_011509227.1  ephexin-1 isoform X2

    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
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