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Aliases for ARHGEF28 Gene

Aliases for ARHGEF28 Gene

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

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 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 and amyotrophic lateral sclerosis 20. Among its related pathways are Developmental Biology and Regulation of RhoA activity. GO annotations related to this gene include RNA binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF12.

UniProtKB/Swiss-Prot 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF28 Gene

Genomics for ARHGEF28 Gene

Regulatory Elements for ARHGEF28 Gene

Promoters for ARHGEF28 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGEF28 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARHGEF28 Gene

Chromosome:
5
Start:
73,626,158 bp from pter
End:
73,941,993 bp from pter
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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15243.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC02707.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGEF28 Gene

neXtProt entry for ARHGEF28 Gene

Proteomics data for ARHGEF28 Gene at MOPED

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

Protein Domains for ARHGEF28 Gene

Suggested Antigen Peptide Sequences for ARHGEF28 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N1W1

UniProtKB/Swiss-Prot:

ARG28_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 phorbol-ester/DAG-type zinc finger.
Domain:
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
Similarity:
  • Contains 1 phorbol-ester/DAG-type zinc finger.
genes like me logo Genes that share domains with ARHGEF28: view

No data available for Gene Families 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).
genes like me logo Genes that share phenotypes with ARHGEF28: view

Animal Models for ARHGEF28 Gene

MGI Knock Outs for ARHGEF28:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ARHGEF28 Gene COMPARTMENTS Subcellular localization image for ARHGEF28 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3

No data available for Gene Ontology (GO) - Cellular Components for ARHGEF28 Gene

Pathways & Interactions for ARHGEF28 Gene

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

Pathways by source for ARHGEF28 Gene

Gene Ontology (GO) - Biological Process for ARHGEF28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007411 axon guidance TAS --
GO:0030154 cell differentiation IEA --
GO:0048013 ephrin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ARHGEF28: view

No data available for SIGNOR curated interactions for ARHGEF28 Gene

Drugs & Compounds for ARHGEF28 Gene

(3) Drugs for ARHGEF28 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
genes like me logo Genes that share compounds with ARHGEF28: view

Transcripts for ARHGEF28 Gene

Unigene Clusters for ARHGEF28 Gene

Rho guanine nucleotide exchange factor (GEF) 28:
Representative Sequences:

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

No ASD Table

Relevant External Links for ARHGEF28 Gene

GeneLoc Exon Structure for
ARHGEF28
ECgene alternative splicing isoforms for
ARHGEF28

Expression for ARHGEF28 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ARHGEF28 Gene



SOURCE GeneReport for Unigene cluster for ARHGEF28 Gene Hs.482521

genes like me logo Genes that share expression patterns with ARHGEF28: view

Protein tissue co-expression partners for ARHGEF28 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.15 (n)
  • 98.73 (a)
RGNEF 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RGNEF 36
  • 83 (a)
OneToOne
RGNEF 35
  • 86.59 (n)
  • 83.31 (a)
dog
(Canis familiaris)
Mammalia ARHGEF28 35
  • 83.8 (n)
  • 81.49 (a)
ARHGEF28 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef28 16
Arhgef28 35
  • 81.88 (n)
  • 81.15 (a)
Arhgef28 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARHGEF28 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF28 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef28 35
  • 81.39 (n)
  • 79.45 (a)
chicken
(Gallus gallus)
Aves LOC427201 35
  • 66.95 (n)
  • 61.75 (a)
ARHGEF28 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF28 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef28 35
  • 60.75 (n)
  • 56.16 (a)
Str.9159 35
zebrafish
(Danio rerio)
Actinopterygii arhgef28 36
  • 38 (a)
OneToMany
ARHGEF28 (2 of 2) 36
  • 34 (a)
OneToMany
arhgef28 35
  • 53.12 (n)
  • 46.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10188 36
  • 21 (a)
OneToMany
Species with no ortholog for ARHGEF28:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ARHGEF28 Gene

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

Pseudogenes.org Pseudogenes for ARHGEF28 Gene

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

Variants for ARHGEF28 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF28 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs12659447 - 73,753,020(+) TTGCA(G/T)GCTGG reference, missense
rs7714670 - 73,776,529(+) GCAGA(C/T)GGTCC reference, missense
VAR_039659 -
rs2973571 - 73,846,471(-) CCTTC(A/G)ACTGT reference, missense
rs2973566 - 73,852,656(-) AAGCT(C/T)TTTGC reference, missense

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)

Relevant External Links for ARHGEF28 Gene

HapMap Linkage Disequilibrium report
ARHGEF28
Human Gene Mutation Database (HGMD)
ARHGEF28

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ARHGEF28 Gene

Disorders for ARHGEF28 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGEF28 Gene - From: GeneTests

Disorder Aliases PubMed IDs
frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • ftdals3
amyotrophic lateral sclerosis 20
  • amyotrophic lateral sclerosis type 20
interstitial lung and liver disease
  • infantile liver failure syndrome 2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGEF28

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 67
  2. Characterization of p190RhoGEF, a RhoA-specific guanine nucleotide exchange factor that interacts with microtubules. (PMID: 11058585) van Horck F.P. … Kranenburg O. (J. Biol. Chem. 2001) 2 3
  3. Identification of a novel, putative Rho-specific GDP/GTP exchange factor and a RhoA-binding protein: control of neuronal morphology. (PMID: 9199174) Gebbink M.F. … Moolenaar W.H. (J. Cell Biol. 1997) 2 3
  4. Gastrin-stimulated GI+13 Activation of Rgnef Protein (ArhGEF28) in DLD-1 Colon Carcinoma Cells. (PMID: 25922072) MasiA -BalaguAc M. … Aragay A.M. (J. Biol. Chem. 2015) 3
  5. ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort. (PMID: 24712971) Ma Y. … Fan D. (Amyotroph Lateral Scler Frontotemporal Degener 2014) 3

Products for ARHGEF28 Gene

Sources for ARHGEF28 Gene

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