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ARHGEF4 Rho guanine nucleotide exchange factor 4 [ Homo sapiens (human) ]

Gene ID: 50649, updated on 20-Jan-2019

Summary

Official Symbol
ARHGEF4provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 4provided by HGNC
Primary source
HGNC:HGNC:684
See related
Ensembl:ENSG00000136002 MIM:605216
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASEF; GEF4; STM6; ASEF1; SMIM39
Summary
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
Expression
Biased expression in brain (RPKM 13.8), skin (RPKM 13.1) and 11 other tissues See more
Orthologs

Genomic context

See ARHGEF4 in Genome Data Viewer
Location:
2q21.1
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (130836916..131051514)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131594489..131804826)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene APC membrane recruitment protein 3 Neighboring gene cytochrome c, somatic pseudogene 8 Neighboring gene family with sequence similarity 168 member B Neighboring gene pleckstrin homology domain containing B2 Neighboring gene NEK2 pseudogene 4

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 FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2018-04-05)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2018-04-05)

ClinGen Genome Curation Page

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
filopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
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
 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 4
Names
APC-stimulated guanine nucleotide exchange factor 1
Rho guanine nucleotide exchange factor (GEF) 4

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_001367493.1NP_001354422.1  rho guanine nucleotide exchange factor 4 isoform c

    Status: REVIEWED

    Source sequence(s)
    AB042199, AC009477, AC112786, AC133785, BC139742
  2. NM_015320.4NP_056135.2  rho guanine nucleotide exchange factor 4 isoform a

    See identical proteins and their annotated locations for NP_056135.2

    Status: REVIEWED

    Source sequence(s)
    AB042199, AC112786, AC133785, AF249745, AL137289
    Consensus CDS
    CCDS2165.1
    UniProtKB/Swiss-Prot
    Q9NR80
    UniProtKB/TrEMBL
    Q9NTG0
    Related
    ENSP00000316845.5, ENST00000326016.10
    Conserved Domains (4) summary
    cd11973
    Location:180252
    SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
    cd01224
    Location:472611
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:500601
    PH; PH domain
    pfam00621
    Location:288467
    RhoGEF; RhoGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    130836916..131051514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511274.3XP_011509576.1  rho guanine nucleotide exchange factor 4 isoform X2

    Conserved Domains (4) summary
    cd11973
    Location:13661438
    SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
    cd01224
    Location:16581797
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:16861787
    PH; PH domain
    pfam00621
    Location:14741653
    RhoGEF; RhoGEF domain
  2. XM_005263681.2XP_005263738.1  rho guanine nucleotide exchange factor 4 isoform X1

    Related
    ENSP00000386794.2, ENST00000409359.6
    Conserved Domains (4) summary
    cd11973
    Location:13661438
    SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
    cd01224
    Location:16581797
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:16861787
    PH; PH domain
    pfam00621
    Location:14741653
    RhoGEF; RhoGEF domain
  3. XM_017004231.1XP_016859720.1  rho guanine nucleotide exchange factor 4 isoform X3

  4. XM_005263685.3XP_005263742.1  rho guanine nucleotide exchange factor 4 isoform X4

    Conserved Domains (1) summary
    PRK07003
    Location:618847
    PRK07003; DNA polymerase III subunits gamma and tau; Validated
  5. XM_011511276.3XP_011509578.1  rho guanine nucleotide exchange factor 4 isoform X6

    See identical proteins and their annotated locations for XP_011509578.1

    Conserved Domains (3) summary
    smart00325
    Location:81260
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:265404
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl17036
    Location:145
    SH3; Src Homology 3 domain superfamily
  6. XM_005263687.4XP_005263744.1  rho guanine nucleotide exchange factor 4 isoform X5

    Related
    ENSP00000387285.2, ENST00000409303.6
    Conserved Domains (4) summary
    cd11973
    Location:57129
    SH3_ASEF; Src homology 3 domain of APC-Stimulated guanine nucleotide Exchange Factor
    cd01224
    Location:349488
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    pfam00169
    Location:377478
    PH; PH domain
    pfam00621
    Location:165344
    RhoGEF; RhoGEF domain
  7. XM_005263688.3XP_005263745.1  rho guanine nucleotide exchange factor 4 isoform X6

    See identical proteins and their annotated locations for XP_005263745.1

    Conserved Domains (3) summary
    smart00325
    Location:81260
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:265404
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl17036
    Location:145
    SH3; Src Homology 3 domain superfamily
  8. XM_005263689.5XP_005263746.1  rho guanine nucleotide exchange factor 4 isoform X6

    See identical proteins and their annotated locations for XP_005263746.1

    Conserved Domains (3) summary
    smart00325
    Location:81260
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:265404
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl17036
    Location:145
    SH3; Src Homology 3 domain superfamily
  9. XM_011511277.2XP_011509579.1  rho guanine nucleotide exchange factor 4 isoform X6

    See identical proteins and their annotated locations for XP_011509579.1

    Conserved Domains (3) summary
    smart00325
    Location:81260
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:265404
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl17036
    Location:145
    SH3; Src Homology 3 domain superfamily
  10. XM_024452938.1XP_024308706.1  rho guanine nucleotide exchange factor 4 isoform X6

    Conserved Domains (3) summary
    smart00325
    Location:81260
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd01224
    Location:265404
    PH_Collybistin_ASEF; Collybistin/APC-stimulated guanine nucleotide exchange factor pleckstrin homology (PH) domain
    cl17036
    Location:145
    SH3; Src Homology 3 domain superfamily

RNA

  1. XR_001738757.1 RNA Sequence

  2. XR_001738756.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032995.2: Suppressed sequence

    Description
    NM_032995.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
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