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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. Among its related pathways are EPH-Ephrin signaling and Developmental Biology. 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 AKAP13.

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).

Additional gene information for ARHGEF28 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF28 Gene

Genomics for ARHGEF28 Gene

GeneHancer (GH) Regulatory Elements for ARHGEF28 Gene

Promoters and enhancers for ARHGEF28 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I073623 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 562.1 -0.2 -190 4.9 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF213 SP3 SP5 MXD4 ARHGEF28 UTP15 ANKRA2 LOC102725145 TNPO1
GH05I073812 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 550.1 +187.5 187504 2.7 DRAP1 SOX13 USF1 SAP130 ARID4B DMAP1 ZNF48 POLR2A NR2F6 MIXL1 ARHGEF28 LOC102725145 ENSG00000184084 RNU7-196P
GH05I073650 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 23.2 +27.7 27711 5.9 PKNOX1 FOXA2 MLX YY1 ZNF143 ATF7 FOS RXRA JUNB MIER2 ARHGEF28 RNU7-196P LOC102725145 UTP15
GH05I073690 Enhancer 1.1 Ensembl ENCODE 25.2 +67.0 67020 5.2 PKNOX1 MLX ZFP64 BMI1 BATF IRF4 ZNF48 ZBTB40 RAD21 RARA ARHGEF28 UTP15 LOC102725145
GH05I073635 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 14.8 +13.4 13414 7.2 MZF1 FEZF1 RARA ZNF335 ZNF366 ZSCAN5C RCOR1 CEBPB TSHZ1 ZEB2 ARHGEF28 LOC102725145 UTP15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGEF28 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARHGEF28 Gene

Genomic Locations for ARHGEF28 Gene
chr5:73,626,158-73,941,993
(GRCh38/hg38)
Size:
315,836 bases
Orientation:
Plus strand
chr5:72,921,983-73,237,818
(GRCh37/hg19)

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

Post-translational modifications for ARHGEF28 Gene

No data available for DME Specific Peptides for ARHGEF28 Gene

Domains & Families for ARHGEF28 Gene

Gene Families for ARHGEF28 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ARHGEF28 Gene

Suggested Antigen Peptide Sequences for ARHGEF28 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
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:

Animal Model Products

Clone Products

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

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

Gene Ontology (GO) - Biological Process for ARHGEF28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0048013 ephrin receptor signaling pathway TAS --
GO:0065009 regulation of molecular function IEA --
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-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ARHGEF28 Gene



Protein tissue co-expression partners for ARHGEF28 Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGEF28 Gene:

ARHGEF28

SOURCE GeneReport for Unigene cluster for ARHGEF28 Gene:

Hs.482521

Evidence on tissue expression from TISSUES for ARHGEF28 Gene

  • Nervous system(4.4)
  • Kidney(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with ARHGEF28: view

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 33
  • 99.15 (n)
RGNEF 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RGNEF 33 34
  • 86.59 (n)
dog
(Canis familiaris)
Mammalia ARHGEF28 33 34
  • 83.8 (n)
mouse
(Mus musculus)
Mammalia Arhgef28 33 16 34
  • 81.88 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef28 33
  • 81.39 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF28 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF28 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC427201 33
  • 66.95 (n)
ARHGEF28 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF28 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef28 33
  • 60.75 (n)
Str.9159 33
zebrafish
(Danio rerio)
Actinopterygii arhgef28 33 34
  • 53.12 (n)
ARHGEF28 (2 of 2) 34
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10188 34
  • 21 (a)
OneToMany
Species where no ortholog for ARHGEF28 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs188040167 likely-benign, not specified 73,901,264(+) G/A coding_sequence_variant, missense_variant
rs191563093 likely-benign, not specified 73,753,042(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant
rs10473959 benign, not specified 73,776,679(+) A/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs115243197 benign, not specified 73,857,727(+) G/A/T coding_sequence_variant, missense_variant
rs146562116 benign, not specified 73,894,487(+) C/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
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
esv2675132 CNV deletion 23128226
esv2659138 CNV deletion 23128226
esv1430068 CNV insertion 17803354
esv1000538 CNV insertion 20482838

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

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

Disorders for ARHGEF28 Gene

Additional Disease Information for ARHGEF28

No disorders were found for ARHGEF28 Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  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 58
  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 58

Products for ARHGEF28 Gene

Sources for ARHGEF28 Gene

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