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

Gene ID: 64283, updated on 17-Jun-2019

Summary

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
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

Genomic context

See ARHGEF28 in Genome Data Viewer
Location:
5q13.2
Exon count:
40
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (73626158..73941993)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72921983..73237818)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat family A member 2 Neighboring gene UTP15 small subunit processome component Neighboring gene uncharacterized LOC107986423 Neighboring gene RNA, U7 small nuclear 196 pseudogene Neighboring gene uncharacterized LOC105379034 Neighboring gene uncharacterized LOC105379035 Neighboring gene long intergenic non-protein coding RNA 2122

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

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPHB-mediated forward signaling, organism-specific biosystem (from REACTOME)
    EPHB-mediated forward signaling, organism-specific biosystemMultiple EPHB receptors contribute directly to dendritic spine development and morphogenesis. These are more broadly involved in post-synaptic development through activation of focal adhesion kinase ...
  • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RhoA activity, organism-specific biosystem
    Regulation of RhoA activity
  • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by focal adhesion kinase, organism-specific biosystem
    Signaling events mediated by focal adhesion kinase

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21817, KIAA1998, DKFZp686P12164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IEA
Inferred from Electronic Annotation
more info
 
Rho guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity EXP
Inferred from Experiment
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
p190-RhoGEF
rho-guanine nucleotide exchange factor

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.

Genomic

  1. NG_017198.2 RefSeqGene

    Range
    5001..320836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080479.2NP_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/Swiss-Prot
    Q8N1W1
    Related
    ENSP00000441913.1, ENST00000545377.5
    Conserved Domains (5) summary
    smart00325
    Location:8531042
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:653698
    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:10871187
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:11231188
    PH; PH domain
    cl02529
    Location:153216
    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_001177693.1NP_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
    Q8N1W1
    Related
    ENSP00000441436.1, ENST00000513042.6
    Conserved Domains (5) summary
    smart00325
    Location:8531042
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:653698
    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:10871187
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:11231188
    PH; PH domain
    cl02529
    Location:153216
    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_001244364.2NP_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:540729
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:340385
    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:774874
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:810875
    PH; PH 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.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    73626158..73941993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009702.1XP_016865191.1  rho guanine nucleotide exchange factor 28 isoform X3

  2. XM_011543546.2XP_011541848.1  rho guanine nucleotide exchange factor 28 isoform X1

    See identical proteins and their annotated locations for XP_011541848.1

    UniProtKB/Swiss-Prot
    Q8N1W1
    Conserved Domains (5) summary
    smart00325
    Location:8531042
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:653698
    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:10871187
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:11231188
    PH; PH domain
    cl02529
    Location:153216
    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. XM_011543547.2XP_011541849.1  rho guanine nucleotide exchange factor 28 isoform X2

    Conserved Domains (5) summary
    smart00325
    Location:8511040
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:651696
    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:10851185
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:11211186
    PH; PH domain
    cl02529
    Location:151214
    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 ...
  4. XM_005248568.4XP_005248625.1  rho guanine nucleotide exchange factor 28 isoform X4

    Conserved Domains (4) summary
    smart00325
    Location:540729
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
    cd00029
    Location:340385
    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:774874
    PH_p190RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    pfam00169
    Location:810875
    PH; PH domain
  5. XM_017009703.1XP_016865192.1  rho guanine nucleotide exchange factor 28 isoform X5

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