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ARHGEF28 Rho guanine nucleotide exchange factor 28 [ Homo sapiens (human) ]

Gene ID: 64283, updated on 5-Mar-2024

Summary

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Official Symbol
ARHGEF28provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 28provided by HGNC
Primary source
HGNC:HGNC:30322
See related
Ensembl:ENSG00000214944 MIM:612790; AllianceGenome:HGNC:30322
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
RIP2; RGNEF; p190RHOGEF
Summary
This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Expression
Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
5q13.2
Exon count:
38
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73626196..73941990)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (74107540..74423332)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72922021..73237815)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr5:72860724-72861278 and GRCh37_chr5:72861279-72861833 Neighboring gene ankyrin repeat family A member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:72895316-72895509 Neighboring gene UTP15 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16091 Neighboring gene uncharacterized LOC107986423 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:72989307-72989931 Neighboring gene NANOG hESC enhancer GRCh37_chr5:73042994-73043575 Neighboring gene Sharpr-MPRA regulatory region 14272 Neighboring gene Sharpr-MPRA regulatory region 14554 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:73091866-73093065 Neighboring gene RNA, U7 small nuclear 196 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:73175472-73175972 Neighboring gene uncharacterized LOC105379034 Neighboring gene Sharpr-MPRA regulatory region 15608 Neighboring gene uncharacterized LOC124901003 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:73330922-73332121 Neighboring gene long intergenic non-protein coding RNA 2122

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Inclusion Formation and Toxicity of the ALS Protein RGNEF and Its Association with the Microtubule Network. Di Gregorio SE, et al. Int J Mol Sci, 2020 Aug 5. PMID 32764283, Free PMC Article
  2. Circular RNA circRGNEF promotes bladder cancer progression via miR-548/KIF2C axis regulation. Yang C, et al. Aging (Albany NY), 2020 Apr 19. PMID 32305958, Free PMC Article
  3. Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis. Song Y, et al. Neurobiol Aging, 2020 Mar. PMID 31060816
  4. A novel overlapping NLS/NES region within the PH domain of Rho Guanine Nucleotide Exchange Factor (RGNEF) regulates its nuclear-cytoplasmic localization. Tavolieri MV, et al. Eur J Cell Biol, 2019 Jan. PMID 30482479
  5. Gastrin-stimulated Gα13 Activation of Rgnef Protein (ArhGEF28) in DLD-1 Colon Carcinoma Cells. Masià-Balagué M, et al. J Biol Chem, 2015 Jun 12. PMID 25922072, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of a RhoA-Specific Guanine Nucleotide Exchange Factor, p190RhoGEF, in Mouse Macrophages Negatively Affects M1 Polarization and Inflammatory Responses.
    Title: Expression of a RhoA-Specific Guanine Nucleotide Exchange Factor, p190RhoGEF, in Mouse Macrophages Negatively Affects M1 Polarization and Inflammatory Responses.
  2. Circular RNA circRGNEF promotes bladder cancer progression via miR-548/KIF2C axis regulation.
    Title: Circular RNA circRGNEF promotes bladder cancer progression via miR-548/KIF2C axis regulation.
  3. Inclusion Formation and Toxicity of the ALS Protein RGNEF and Its Association with the Microtubule Network.
    Title: Inclusion Formation and Toxicity of the ALS Protein RGNEF and Its Association with the Microtubule Network.
  4. Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis.
    Title: Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis.
  5. A new role for Rgnef in ovarian cancer to facilitate NF-kappaB-mediated gene expression protecting cells from oxidative stress.
    Title: Rgnef promotes ovarian tumor progression and confers protection from oxidative stress.
  6. Data show interaction between activated Rac family small GTPase 1 (Rac1) and Rho guanine nucleotide exchange factor 28 (p190RhoGEF), suggeseting a potential mechanism for cross-talk regulation where Rac can directly effect stimulation of small GTP binding protein RhoA (RhoA).
    Title: Direct regulation of p190RhoGEF by activated Rho and Rac GTPases.
  7. a 23-amino acid region containing a bipartite nuclear localization signal (NLS) within the Pleckstrin Homology (PH) domain of RGNEF, which when deleted or mutated abolishes the nuclear localization of this protein.
    Title: A novel overlapping NLS/NES region within the PH domain of Rho Guanine Nucleotide Exchange Factor (RGNEF) regulates its nuclear-cytoplasmic localization.
  8. results show that Rgnef functions as an effector of Galpha13 signaling and that this linkage may mediate FAK activation in DLD-1 colon carcinoma cells
    Title: Gastrin-stimulated Gα13 Activation of Rgnef Protein (ArhGEF28) in DLD-1 Colon Carcinoma Cells.
  9. This study showed that ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.
    Title: ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.
  10. Study identified a heterozygous mutation in amyotrophic lateral sclerosis patients that is predicted to generate a premature truncated ARHGEF28 gene product. There were extensive regions of homozygosity in the ARHGEF28 gene in two familial ALS patients.
    Title: Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
EBI GWAS Catalog
Genetic predictors of fibrin D-dimer levels in healthy adults.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of 190 kDa guanine nucleotide exchange factor (RGNEF) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21817, KIAA1998, DKFZp686P12164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IEA
Inferred from Electronic Annotation
more info
  
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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in central nervous system neuron axonogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
  
involved_in neurofilament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
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 plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
rho guanine nucleotide exchange factor 28
Names
190 kDa guanine nucleotide exchange factor
Rho guanine nucleotide exchange factor (GEF) 28
Rho interacting protein 2
rho-guanine nucleotide exchange factor

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_017198.2 RefSeqGene

    Range
    5039..320833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080479.3 → NP_001073948.2  rho guanine nucleotide exchange factor 28 isoform 1

    See identical proteins and their annotated locations for NP_001073948.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC091868, AC093283, AK094713, BC157846, CN478799
    Consensus CDS
    CCDS47231.2
    UniProtKB/TrEMBL
    A0A2X0U2G7
    Related
    ENSP00000441913.1, ENST00000545377.5
    Conserved Domains (5) summary
    smart00325
    Location:853 → 1042
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:653 → 698
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd14680
    Location:1087 → 1187
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:1123 → 1188
    PH; PH domain
    cl02529
    Location:153 → 216
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

  2. NM_001177693.2 → NP_001171164.1  rho guanine nucleotide exchange factor 28 isoform 2

    See identical proteins and their annotated locations for NP_001171164.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC093283, AK094713, BC171850, CN478799
    Consensus CDS
    CCDS54870.1
    UniProtKB/Swiss-Prot
    B2RXG7, B4E3K4, B5MDA3, B7ZW32, E9PC75, Q8N1W1, Q8NCM7, Q96E37, Q9H6L3, Q9H6W0
    UniProtKB/TrEMBL
    A0A2X0U2G7
    Related
    ENSP00000441436.1, ENST00000513042.7
    Conserved Domains (5) summary
    smart00325
    Location:853 → 1042
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:653 → 698
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd14680
    Location:1087 → 1187
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:1123 → 1188
    PH; PH domain
    cl02529
    Location:153 → 216
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

  3. NM_001244364.2 → NP_001231293.1  rho guanine nucleotide exchange factor 28 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC093283, AK025470, AK304761, BG696752
    Consensus CDS
    CCDS58957.1
    UniProtKB/Swiss-Prot
    Q8N1W1
    Related
    ENSP00000296799.4, ENST00000296799.8
    Conserved Domains (4) summary
    smart00325
    Location:540 → 729
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:340 → 385
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd14680
    Location:774 → 874
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:810 → 875
    PH; PH domain

  4. NM_001388076.1 → NP_001375005.1  rho guanine nucleotide exchange factor 28 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC008387, AC026702, AC091868, AC093283, KF457926
    UniProtKB/TrEMBL
    A0A2X0U2G7
    Conserved Domains (3) summary
    smart00325
    Location:755 → 944
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd20876
    Location:548 → 608
    C1_p190RhoGEF; protein kinase C conserved region 1 (C1 domain) found in 190 kDa guanine nucleotide exchange factor (p190RhoGEF) and similar proteins
    cl17171
    Location:989 → 1089
    PH-like; Pleckstrin homology-like domain

  5. NM_001388078.1 → NP_001375007.1  rho guanine nucleotide exchange factor 28 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC008387, AC026702, AC091868, AC093283, KF457926
    Consensus CDS
    CCDS93734.1
    UniProtKB/TrEMBL
    A0A2X0U2G7
    Related
    ENSP00000296794.6, ENST00000296794.10
    Conserved Domains (3) summary
    smart00325
    Location:853 → 1042
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd14680
    Location:1087 → 1187
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    cd20876
    Location:646 → 706
    C1_p190RhoGEF; protein kinase C conserved region 1 (C1 domain) found in 190 kDa guanine nucleotide exchange factor (p190RhoGEF) and similar proteins

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    73626196..73941990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    74107540..74423332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022448.1: Suppressed sequence

    Description
    NM_022448.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N1W1.3 GenPept UniProtKB/Swiss-Prot:Q8N1W1

Gene LinkOut

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