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Aliases for ARHGEF12 Gene

Aliases for ARHGEF12 Gene

  • Rho Guanine Nucleotide Exchange Factor (GEF) 12 2 3
  • LARG 3 4 6
  • Leukemia-Associated RhoGEF 3 4
  • KIAA0382 4 6
  • Leukemia-Associated Rho Guanine Nucleotide Exchange Factor 3
  • Rho Guanine Nucleotide Exchange Factor 12 3
  • 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 leukemia, acute myeloid and leukemia. Among its related pathways are Signaling by FGFR and RhoGDI Pathway. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. 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:

Genomic Location for ARHGEF12 Gene

Start:
120,336,555 bp from pter
End:
120,489,936 bp from pter
Size:
153,382 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ARHGEF12 Gene

Domains for ARHGEF12 Gene

Gene Families for ARHGEF12 Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors

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 :
  • Q9NZN5
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: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:

miRNA for ARHGEF12 Gene

miRTarBase miRNAs that target ARHGEF12

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 4
nucleus 3
extracellular 2
plasma membrane 2
cytoskeleton 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 for ARHGEF12 Gene

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

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 --
GO:0035556 intracellular signal transduction --
genes like me logo Genes that share ontologies with ARHGEF12: view

Compounds for ARHGEF12 Gene

(3) HMDB Compounds for ARHGEF12 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(6) Novoseek inferred chemical compound relationships for ARHGEF12 Gene

Compound -log(P) Hits PubMed IDs
arginine 73 89
gdp 53 1
gtp 51.6 1
tyrosine 33 5
oligonucleotide 7.01 1
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:

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

Integrated Proteomics: protein expression 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 expressions with ARHGEF12: view

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
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF12 35
  • 99.72 (n)
  • 99.94 (a)
ARHGEF12 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ARHGEF12 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF12 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef12 35
  • 86.87 (n)
  • 88.79 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Larg 35
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef12 35
  • 66 (n)
  • 65.05 (a)
Str.1176 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 36
  • 15 (a)
OneToMany
RhoGEF2 37
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea rhgf-1 36
  • 26 (a)
OneToMany
F13E6.6 37
  • 37 (a)
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

Selected 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(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

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

MalaCards: The human disease database. (2) Diseases for ARHGEF12 Gene including...

Search for ARHGEF12 Gene in MalaCards »

(1) OMIM Diseases for ARHGEF12 Gene (604763)

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.

(3) Novoseek inferred disease relationships for ARHGEF12 Gene

Disease -log(P) Hits PubMed IDs
leukemia 19 4
prostate cancer 0 1
cancer 0 1

Relevant External Links for ARHGEF12

Genetic Association Database (GAD)
ARHGEF12
Human Genome Epidemiology (HuGE) Navigator
ARHGEF12
genes like me logo Genes that share disorders with ARHGEF12: view

Publications for ARHGEF12 Gene

  1. Plexin B regulates Rho through the guanine nucleotide exchange factors leukemia-associated Rho GEF (LARG) and PDZ-RhoGEF. (PMID: 12183458) Perrot V. … Gutkind J.S. (J. Biol. Chem. 2002) 3 4 23
  2. Structural determinants of RhoA binding and nucleotide exchange in leukemia-associated Rho guanine-nucleotide exchange factor. (PMID: 15331592) Kristelly R. … Tesmer J.J. (J. Biol. Chem. 2004) 3 4 23
  3. Direct interaction of insulin-like growth factor-1 receptor with leukemia-associated RhoGEF. (PMID: 11724822) Taya S. … Kaibuchi K. (J. Cell Biol. 2001) 3 4 23
  4. A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo. (PMID: 16644711) Kovacs P. … Baier L.J. (Diabetes 2006) 3 23 48
  5. Genetic variants in the leukemia-associated Rho guanine nucleotide exchange factor (ARHGEF12) gene are not associated with T2DM and related parameters in Caucasians (KORA study). (PMID: 17766704) Holzapfel C. … Illig T. (Eur. J. Endocrinol. 2007) 3 23 48

Products for ARHGEF12 Gene

  • antibodies-online proteins for ARHGEF12
  • antibodies-online antibodies for ARHGEF12
  • antibodies-online kits for ARHGEF12

Sources for ARHGEF12 Gene

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