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Aliases for ARHGEF12 Gene

Aliases for ARHGEF12 Gene

  • Rho Guanine Nucleotide Exchange Factor (GEF) 12 2 3
  • Leukemia-Associated RhoGEF 3 4
  • LARG 3 4
  • Leukemia-Associated Rho Guanine Nucleotide Exchange Factor 3
  • KIAA0382 4
  • PRO2792 3

External Ids for ARHGEF12 Gene

Previous GeneCards Identifiers for ARHGEF12 Gene

  • GC11P122207
  • GC11P121719
  • GC11P120241
  • GC11P119745
  • GC11P119712
  • GC11P116148
  • GC11P120207

Summaries for ARHGEF12 Gene

Entrez Gene Summary for ARHGEF12 Gene

  • Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for ARHGEF12 Gene

ARHGEF12 (Rho Guanine Nucleotide Exchange Factor (GEF) 12) is a Protein Coding gene. Diseases associated with ARHGEF12 include shwachman-diamond syndrome and waterhouse-friderichsen syndrome. Among its related pathways are Signaling by GPCR and Regulation of actin cytoskeleton. GO annotations related to this gene include GTPase activator activity and G-protein coupled receptor binding. An important paralog of this gene is ARHGEF11.

UniProtKB/Swiss-Prot for ARHGEF12 Gene

  • May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.

Gene Wiki entry for ARHGEF12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF12 Gene

Genomics for ARHGEF12 Gene

Regulatory Elements for ARHGEF12 Gene

Transcription factor binding sites by QIAGEN in the ARHGEF12 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ARHGEF12 Gene

Chromosome:
11
Start:
120,336,406 bp from pter
End:
120,489,936 bp from pter
Size:
153,531 bases
Orientation:
Plus strand

Genomic View for ARHGEF12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARHGEF12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF12 Gene

Proteins for ARHGEF12 Gene

  • Protein details for ARHGEF12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZN5-ARHGC_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 12
    Protein Accession:
    Q9NZN5
    Secondary Accessions:
    • O15086
    • Q6P526

    Protein attributes for ARHGEF12 Gene

    Size:
    1544 amino acids
    Molecular mass:
    173232 Da
    Quaternary structure:
    • Interacts with GNA12 and GNA13, probably through the RGS-like domain. Interacts with RHOA, PLXNB1 and PLXNB2. Interacts through its PDZ domain with IGF1R beta subunit. Interacts with GCSAM.
    SequenceCaution:
    • Sequence=AAH63117.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF12 Gene

    Alternative splice isoforms for ARHGEF12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF12 Gene

Proteomics data for ARHGEF12 Gene at MOPED

Post-translational modifications for ARHGEF12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGEF12 Gene

Antibody Products

No data available for DME Specific Peptides for ARHGEF12 Gene

Domains & Families for ARHGEF12 Gene

Gene Families for ARHGEF12 Gene

Suggested Antigen Peptide Sequences for ARHGEF12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZN5

UniProtKB/Swiss-Prot:

ARHGC_HUMAN :
  • Contains 1 DH (DBL-homology) domain.
Domain:
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PDZ (DHR) domain.
  • Contains 1 PH domain.
  • Contains 1 RGSL (RGS-like) domain.
genes like me logo Genes that share domains with ARHGEF12: view

Function for ARHGEF12 Gene

Molecular function for ARHGEF12 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13.

Gene Ontology (GO) - Molecular Function for ARHGEF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G-protein coupled receptor binding IDA 15755723
GO:0005085 guanyl-nucleotide exchange factor activity --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 11724822
genes like me logo Genes that share ontologies with ARHGEF12: view
genes like me logo Genes that share phenotypes with ARHGEF12: view

Animal Models for ARHGEF12 Gene

MGI Knock Outs for ARHGEF12:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARHGEF12

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARHGEF12 Gene

Localization for ARHGEF12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF12 Gene

Cytoplasm. Membrane. Note=Translocated to the membrane upon stimulation. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF12 Gene COMPARTMENTS Subcellular localization image for ARHGEF12 gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ARHGEF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15755723
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ARHGEF12: view

Pathways & Interactions for ARHGEF12 Gene

genes like me logo Genes that share pathways with ARHGEF12: view

SIGNOR curated interactions for ARHGEF12 Gene

Activates:

Gene Ontology (GO) - Biological Process for ARHGEF12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G-protein coupled receptor signaling pathway IDA 15755723
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007411 axon guidance TAS --
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0035556 intracellular signal transduction --
genes like me logo Genes that share ontologies with ARHGEF12: view

Drugs & Compounds for ARHGEF12 Gene

(6) Drugs for ARHGEF12 Gene - From: HMDB and NovoSeek

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
arginine Nutra 346
Calcium Nutra 0

(3) Additional Compounds for ARHGEF12 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gdp
gtp
Partial agonist, Agonist
Oligonucleotide
genes like me logo Genes that share compounds with ARHGEF12: view

Transcripts for ARHGEF12 Gene

Unigene Clusters for ARHGEF12 Gene

Rho guanine nucleotide exchange factor (GEF) 12:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARHGEF12

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - - -
SP3:
SP4:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ARHGEF12 Gene

GeneLoc Exon Structure for
ARHGEF12
ECgene alternative splicing isoforms for
ARHGEF12

Expression for ARHGEF12 Gene

mRNA expression in normal human tissues for ARHGEF12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGEF12 Gene

This gene is overexpressed in Brain (12.8), Pancreas (6.7), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARHGEF12 Gene



SOURCE GeneReport for Unigene cluster for ARHGEF12 Gene Hs.24598

mRNA Expression by UniProt/SwissProt for ARHGEF12 Gene

Q9NZN5-ARHGC_HUMAN
Tissue specificity: Ubiquitously expressed. Isoform 2 is found in jejunum and testis
genes like me logo Genes that share expression patterns with ARHGEF12: view

Protein tissue co-expression partners for ARHGEF12 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ARHGEF12 Gene

Orthologs for ARHGEF12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGEF12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARHGEF12 35
  • 91.21 (n)
  • 92.29 (a)
ARHGEF12 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF12 35
  • 91.21 (n)
  • 92.29 (a)
ARHGEF12 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef12 35
  • 87.82 (n)
  • 89.37 (a)
Arhgef12 16
Arhgef12 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF12 35
  • 99.72 (n)
  • 99.94 (a)
ARHGEF12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef12 35
  • 86.87 (n)
  • 88.79 (a)
oppossum
(Monodelphis domestica)
Mammalia ARHGEF12 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF12 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGEF12 35
  • 72.99 (n)
  • 73.39 (a)
ARHGEF12 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGEF12 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef12 35
  • 66 (n)
  • 65.05 (a)
Str.1176 35
African clawed frog
(Xenopus laevis)
Amphibia Larg 35
zebrafish
(Danio rerio)
Actinopterygii arhgef12 35
  • 60.58 (n)
  • 59.95 (a)
ARHGEF12 (1 of 2) 36
  • 52 (a)
OneToMany
arhgef12b 36
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF2 37
  • 37 (a)
RhoGEF2 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F13E6.6 37
  • 37 (a)
rhgf-1 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 36
  • 13 (a)
ManyToMany
ROM2 36
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for ARHGEF12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)

Evolution for ARHGEF12 Gene

ENSEMBL:
Gene Tree for ARHGEF12 (if available)
TreeFam:
Gene Tree for ARHGEF12 (if available)

Paralogs for ARHGEF12 Gene

(4) SIMAP similar genes for ARHGEF12 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ARHGEF12: view

Variants for ARHGEF12 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs4054 -- 120,364,101(-) TCAGG(C/T)ACAGT intron-variant
rs6483 -- 120,487,134(+) AAAAC(-/TT)TGCTC utr-variant-3-prime
rs9625 -- 120,485,082(+) GAGCC(A/G/T)CATGT utr-variant-3-prime
rs472020 -- 120,461,615(+) gacat(G/T)gattt intron-variant
rs476446 -- 120,410,065(+) ATGGG(A/G)AAATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF12 Gene

Variant ID Type Subtype PubMed ID
nsv529003 CNV Loss 19592680
esv2676644 CNV Deletion 23128226
esv6844 CNV Gain 19470904
nsv519 CNV Insertion 18451855
nsv520 CNV Insertion 18451855

Variation tolerance for ARHGEF12 Gene

Residual Variation Intolerance Score: 3.12% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.41; 71.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF12 Gene

HapMap Linkage Disequilibrium report
ARHGEF12
Human Gene Mutation Database (HGMD)
ARHGEF12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF12 Gene

Disorders for ARHGEF12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGEF12 Gene - From: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • shwachman syndrome
waterhouse-friderichsen syndrome
  • wolfram syndrome
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association

UniProtKB/Swiss-Prot

ARHGC_HUMAN
  • Note=A chromosomal aberration involving ARHGEF12 may be a cause of acute leukemia. Translocation t(11;11)(q23;23) with KMT2A/MLL1.

Relevant External Links for ARHGEF12

Genetic Association Database (GAD)
ARHGEF12
Human Genome Epidemiology (HuGE) Navigator
ARHGEF12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF12
genes like me logo Genes that share disorders with ARHGEF12: view

No data available for Genatlas for ARHGEF12 Gene

Publications for ARHGEF12 Gene

  1. Binding of PDZ-RhoGEF to ATP-binding cassette transporter A1 (ABCA1) induces cholesterol efflux through RhoA activation and prevention of transporter degradation. (PMID: 20348106) Okuhira K. … Nishimaki-Mogami T. (J. Biol. Chem. 2010) 23 67
  2. Activation of leukemia-associated RhoGEF by Galpha13 with significant conformational rearrangements in the interface. (PMID: 19074425) Suzuki N. … Kozasa T. (J. Biol. Chem. 2009) 23 67
  3. On the mechanism of autoinhibition of the RhoA-specific nucleotide exchange factor PDZRhoGEF. (PMID: 19460155) Zheng M. … Derewenda Z.S. (BMC Struct. Biol. 2009) 23 67
  4. A conserved hydrophobic surface of the LARG pleckstrin homology domain is critical for RhoA activation in cells. (PMID: 19560536) Aittaleb M. … Tesmer J.J. (Cell. Signal. 2009) 23 67
  5. Unc5B associates with LARG to mediate the action of repulsive guidance molecule. (PMID: 19273616) Hata K. … Yamashita T. (J. Cell Biol. 2009) 23 67

Products for ARHGEF12 Gene

Sources for ARHGEF12 Gene

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