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] See more...

Aliases for ARHGEF28 Gene

Aliases for ARHGEF28 Gene

  • Rho Guanine Nucleotide Exchange Factor 28 2 3 3 4 5
  • RGNEF 2 3 4
  • Rho Guanine Nucleotide Exchange Factor (GEF) 28 2 3
  • 190 KDa Guanine Nucleotide Exchange Factor 3 4
  • P190RhoGEF 2 4
  • RIP2 2 3
  • Rho-Guanine Nucleotide Exchange Factor 3
  • Rho Guanine Nucleotide Exchange Factor 4
  • Rho Interacting Protein 2 3
  • P190-RhoGEF 4
  • P190RHOGEF 3
  • ARHGEF28 5
  • KIAA1998 4

External Ids for ARHGEF28 Gene

Previous GeneCards Identifiers for ARHGEF28 Gene

  • GC05P072921

Summaries for ARHGEF28 Gene

Entrez Gene Summary for ARHGEF28 Gene

  • 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]

GeneCards Summary for ARHGEF28 Gene

ARHGEF28 (Rho Guanine Nucleotide Exchange Factor 28) is a Protein Coding gene. Diseases associated with ARHGEF28 include Cri-Du-Chat Syndrome. Among its related pathways are EPH-Ephrin signaling and Yersinia infection. Gene Ontology (GO) annotations related to this gene include RNA binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF18.

UniProtKB/Swiss-Prot Summary for ARHGEF28 Gene

  • Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF28 Gene

Genomics for ARHGEF28 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGEF28 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF28 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF28

Genomic Locations for ARHGEF28 Gene

Latest Assembly
chr5:73,626,158-73,941,993
(GRCh38/hg38)
Size:
315,836 bases
Orientation:
Plus strand

Previous Assembly
chr5:72,922,021-73,237,815
(GRCh37/hg19 by Entrez Gene)
Size:
315,795 bases
Orientation:
Plus strand

chr5:72,921,983-73,237,818
(GRCh37/hg19 by Ensembl)
Size:
315,836 bases
Orientation:
Plus strand

Genomic View for ARHGEF28 Gene

Genes around ARHGEF28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF28 Gene

Proteins for ARHGEF28 Gene

  • Protein details for ARHGEF28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1W1-ARG28_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 28
    Protein Accession:
    Q8N1W1
    Secondary Accessions:
    • B2RXG7
    • B4E3K4
    • B5MDA3
    • B7ZW32
    • E9PC75
    • Q8NCM7
    • Q96E37
    • Q9H6L3
    • Q9H6W0

    Protein attributes for ARHGEF28 Gene

    Size:
    1705 amino acids
    Molecular mass:
    191891 Da
    Quaternary structure:
    • Homooligomer; forms cytoplasmic aggregates. Forms a complex with MAPK8 and MAPK8IP1. Interacts with RHOA. Interacts with microtubules. Interacts with YWHAE and YWHAH. Interacts with PTK2/FAK1. Interacts with NEFL (By similarity). Interacts with CTNND2; prevents interaction with RHOA.
    SequenceCaution:
    • Sequence=AAH12946.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15243.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC02707.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF28 Gene

    Alternative splice isoforms for ARHGEF28 Gene

neXtProt entry for ARHGEF28 Gene

Post-translational modifications for ARHGEF28 Gene

  • Phosphorylated on tyrosine upon stimulation of cells by laminin.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGEF28 Gene

Domains & Families for ARHGEF28 Gene

Gene Families for ARHGEF28 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARHGEF28 Gene

Suggested Antigen Peptide Sequences for ARHGEF28 Gene

GenScript: Design optimal peptide antigens:
  • RGNEF protein (B2RXG7_HUMAN)
  • RGNEF protein (B7ZW32_HUMAN)
  • 190 kDa guanine nucleotide exchange factor (RGNEF_HUMAN)
genes like me logo Genes that share domains with ARHGEF28: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGEF28 Gene

Function for ARHGEF28 Gene

Molecular function for ARHGEF28 Gene

UniProtKB/Swiss-Prot Function:
Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity).

Phenotypes From GWAS Catalog for ARHGEF28 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005085 guanyl-nucleotide exchange factor activity EXP 11058585
GO:0005515 protein binding IPI --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARHGEF28: view
genes like me logo Genes that share phenotypes with ARHGEF28: view

Animal Models for ARHGEF28 Gene

MGI Knock Outs for ARHGEF28:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF28

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGEF28 Gene

Localization for ARHGEF28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF28 Gene

Cytoplasm. Cell membrane. Note=Colocalizes with the microtubule radial and cortical systems. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGEF28 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGEF28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ARHGEF28: view

Pathways & Interactions for ARHGEF28 Gene

genes like me logo Genes that share pathways with ARHGEF28: view

Pathways by source for ARHGEF28 Gene

SIGNOR curated interactions for ARHGEF28 Gene

Activates:

Gene Ontology (GO) - Biological Process for ARHGEF28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0030154 cell differentiation IEA --
GO:0035023 regulation of Rho protein signal transduction IBA 21873635
GO:0035556 intracellular signal transduction IEA --
GO:0048013 ephrin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ARHGEF28: view

Drugs & Compounds for ARHGEF28 Gene

(4) Drugs for ARHGEF28 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 443
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for ARHGEF28 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with ARHGEF28: view

Transcripts for ARHGEF28 Gene

mRNA/cDNA for ARHGEF28 Gene

6 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGEF28

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF28 Gene

No ASD Table

Relevant External Links for ARHGEF28 Gene

GeneLoc Exon Structure for
ARHGEF28

Expression for ARHGEF28 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF28 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGEF28 Gene

This gene is overexpressed in Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for ARHGEF28 Gene

This gene is overexpressed in Bone (52.1), Pancreas (10.2), and Bone marrow stromal cell (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF28 Gene



Protein tissue co-expression partners for ARHGEF28 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF28

SOURCE GeneReport for Unigene cluster for ARHGEF28 Gene:

Hs.482521

Evidence on tissue expression from TISSUES for ARHGEF28 Gene

  • Nervous system(4.5)
  • Kidney(4.5)
  • Liver(4.3)
  • Blood(2.2)
  • Muscle(2.2)
  • Heart(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ARHGEF28: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF28 Gene

Orthologs for ARHGEF28 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGEF28 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGEF28 29
  • 99.15 (n)
RGNEF 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RGNEF 29 30
  • 86.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGEF28 29 30
  • 83.8 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgef28 29 16 30
  • 81.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgef28 29
  • 81.39 (n)
Oppossum
(Monodelphis domestica)
Mammalia ARHGEF28 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF28 30
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC427201 29
  • 66.95 (n)
ARHGEF28 30
  • 58 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGEF28 30
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgef28 29
  • 60.75 (n)
Str.9159 29
Zebrafish
(Danio rerio)
Actinopterygii arhgef28 29 30
  • 53.12 (n)
OneToMany
ARHGEF28 (2 of 2) 30
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG10188 30
  • 21 (a)
OneToMany
Species where no ortholog for ARHGEF28 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ARHGEF28 Gene

ENSEMBL:
Gene Tree for ARHGEF28 (if available)
TreeFam:
Gene Tree for ARHGEF28 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF28: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGEF28

Paralogs for ARHGEF28 Gene

Paralogs for ARHGEF28 Gene

(4) SIMAP similar genes for ARHGEF28 Gene using alignment to 3 proteins:

  • ARG28_HUMAN
  • D6RAP0_HUMAN
  • D6RGZ3_HUMAN

Pseudogenes.org Pseudogenes for ARHGEF28 Gene

genes like me logo Genes that share paralogs with ARHGEF28: view

Variants for ARHGEF28 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGEF28 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs1005423664 Uncertain Significance: not provided 73,886,102(+) A/G
NM_001080479.2(ARHGEF28):c.3308A>G (p.Lys1103Arg)
MISSENSE
rs10473959 Benign: not specified 73,776,679(+) A/C
NM_001080479.2(ARHGEF28):c.823A>C (p.Arg275=)
SYNONYMOUS
rs114663194 Benign: not provided 73,911,463(+) C/G
NM_001080479.2(ARHGEF28):c.4836C>G (p.Leu1612=)
SYNONYMOUS
rs115243197 Benign: not specified; not provided 73,857,727(+) G/A
NM_001080479.2(ARHGEF28):c.1862G>A (p.Arg621Gln)
MISSENSE
rs139349480 Benign: not provided 73,909,608(+) G/T
NM_001080479.2(ARHGEF28):c.4358G>T (p.Arg1453Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGEF28 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF28 Gene

Variant ID Type Subtype PubMed ID
esv1000538 CNV insertion 20482838
esv1430068 CNV insertion 17803354
esv2659138 CNV deletion 23128226
esv2675132 CNV deletion 23128226
esv2730301 CNV deletion 23290073
esv2730302 CNV deletion 23290073
esv3306083 CNV mobile element insertion 20981092
esv3310255 CNV mobile element insertion 20981092
esv3392400 CNV insertion 20981092
esv3439827 CNV insertion 20981092
esv3570191 CNV loss 25503493
esv3605419 CNV loss 21293372
esv3605420 CNV gain 21293372
esv3605421 CNV loss 21293372
nsv1020314 CNV gain 25217958
nsv1030552 CNV loss 25217958
nsv598651 CNV gain 21841781
nsv830346 CNV loss 17160897
nsv830347 CNV gain 17160897
nsv830349 CNV gain 17160897

Variation tolerance for ARHGEF28 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.47; 98.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGEF28 Gene

Human Gene Mutation Database (HGMD)
ARHGEF28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGEF28
Leiden Open Variation Database (LOVD)
ARHGEF28

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF28 Gene

Disorders for ARHGEF28 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGEF28 Gene - From: COP

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • cat cry syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGEF28

genes like me logo Genes that share disorders with ARHGEF28: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGEF28 Gene

Publications for ARHGEF28 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O … Koseki H (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4
  3. Characterization of p190RhoGEF, a RhoA-specific guanine nucleotide exchange factor that interacts with microtubules. (PMID: 11058585) van Horck FP … Kranenburg O (The Journal of biological chemistry 2001) 2 3
  4. Interaction of c-Jun amino-terminal kinase interacting protein-1 with p190 rhoGEF and its localization in differentiated neurons. (PMID: 10574993) Meyer D … Margolis B (The Journal of biological chemistry 1999) 3 4
  5. Identification of a novel, putative Rho-specific GDP/GTP exchange factor and a RhoA-binding protein: control of neuronal morphology. (PMID: 9199174) Gebbink MF … Moolenaar WH (The Journal of cell biology 1997) 2 3

Products for ARHGEF28 Gene

Sources for ARHGEF28 Gene