This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] See more...

Aliases for ARHGAP12 Gene

Aliases for ARHGAP12 Gene

  • Rho GTPase Activating Protein 12 2 3 5
  • Rho-Type GTPase-Activating Protein 12 3 4
  • Rho GTPase-Activating Protein 12 3 4
  • ARHGAP12 5
  • FLJ20737 2
  • FLJ10971 2
  • FLJ21785 2

External Ids for ARHGAP12 Gene

Previous GeneCards Identifiers for ARHGAP12 Gene

  • GC10U990129
  • GC10M032244
  • GC10M032099
  • GC10M032098
  • GC10M032134

Summaries for ARHGAP12 Gene

Entrez Gene Summary for ARHGAP12 Gene

  • This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for ARHGAP12 Gene

ARHGAP12 (Rho GTPase Activating Protein 12) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and G-protein signaling_Regulation of RAC1 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP27.

UniProtKB/Swiss-Prot Summary for ARHGAP12 Gene

  • GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

Additional gene information for ARHGAP12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP12 Gene

Genomics for ARHGAP12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGAP12 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 ARHGAP12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP12

Top Transcription factor binding sites by QIAGEN in the ARHGAP12 gene promoter:
  • AML1a
  • c-Ets-1
  • N-Myc
  • p53
  • Pbx1a
  • S8
  • STAT5A
  • USF-1
  • USF1

Genomic Locations for ARHGAP12 Gene

Genomic Locations for ARHGAP12 Gene
chr10:31,805,398-31,928,876
(GRCh38/hg38)
Size:
123,479 bases
Orientation:
Minus strand
chr10:32,094,365-32,217,770
(GRCh37/hg19)
Size:
123,406 bases
Orientation:
Minus strand

Genomic View for ARHGAP12 Gene

Genes around ARHGAP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP12 Gene

Proteins for ARHGAP12 Gene

  • Protein details for ARHGAP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWW6-RHG12_HUMAN
    Recommended name:
    Rho GTPase-activating protein 12
    Protein Accession:
    Q8IWW6
    Secondary Accessions:
    • B1ANY0
    • B1ANY1
    • B1ANY2
    • Q504X1
    • Q86UB3
    • Q8IWW7
    • Q8N3L1
    • Q9NT76

    Protein attributes for ARHGAP12 Gene

    Size:
    846 amino acids
    Molecular mass:
    96254 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ARHGAP12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP12 Gene

Post-translational modifications for ARHGAP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP12 Gene

Domains & Families for ARHGAP12 Gene

Gene Families for ARHGAP12 Gene

Protein Domains for ARHGAP12 Gene

InterPro:
Blocks:
  • RhoGAP domain
  • SH3 domain signature
  • Pleckstrin-like
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP12 Gene

GenScript: Design optimal peptide antigens:
  • Rho GTPase activating protein 12 (B1ANX9_HUMAN)
  • Rho GTPase activating protein 12, isoform CRA_c (D3DRX4_HUMAN)
  • ARHGAP12 protein (Q1RLN5_HUMAN)
  • cDNA: FLJ21785 fis, clone HEP00324 (Q9H6W9_HUMAN)
  • cDNA FLJ10971 fis, clone PLACE1000977, weakly similar to BETA-CHIMAERIN (Q9NV28_HUMAN)
genes like me logo Genes that share domains with ARHGAP12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP12 Gene

Function for ARHGAP12 Gene

Molecular function for ARHGAP12 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

Phenotypes From GWAS Catalog for ARHGAP12 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ARHGAP12: view
genes like me logo Genes that share phenotypes with ARHGAP12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ARHGAP12

CRISPR Products

miRNA for ARHGAP12 Gene

miRTarBase miRNAs that target ARHGAP12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP12 Gene

Localization for ARHGAP12 Gene

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 ARHGAP12 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ARHGAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001891 phagocytic cup IDA 26465210
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGAP12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP12 Gene

Pathways & Interactions for ARHGAP12 Gene

PathCards logo

SuperPathways for ARHGAP12 Gene

genes like me logo Genes that share pathways with ARHGAP12: view

Pathways by source for ARHGAP12 Gene

3 Reactome pathways for ARHGAP12 Gene
1 GeneGo (Thomson Reuters) pathway for ARHGAP12 Gene
  • G-protein signaling_Regulation of RAC1 activity

SIGNOR curated interactions for ARHGAP12 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ARHGAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002011 morphogenesis of an epithelial sheet IMP 23201090
GO:0006911 phagocytosis, engulfment IMP 26465210
GO:0007015 actin filament organization IMP 26465210
GO:0007165 signal transduction IEA --
GO:0043087 regulation of GTPase activity IBA 21873635
genes like me logo Genes that share ontologies with ARHGAP12: view

Drugs & Compounds for ARHGAP12 Gene

(1) Drugs for ARHGAP12 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methylphenidate Approved, Investigational Pharma 431
genes like me logo Genes that share compounds with ARHGAP12: view

Transcripts for ARHGAP12 Gene

mRNA/cDNA for ARHGAP12 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP12

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - -
SP5:
SP6: -
SP7:
SP8:
SP9:

ExUns: 20 ^ 21a · 21b · 21c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8: -
SP9:

Relevant External Links for ARHGAP12 Gene

GeneLoc Exon Structure for
ARHGAP12

Expression for ARHGAP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP12 Gene

This gene is overexpressed in Fetal Brain (13.7), Heart (9.8), Islet of Langerhans (6.7), and Spleen (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP12 Gene



Protein tissue co-expression partners for ARHGAP12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP12

SOURCE GeneReport for Unigene cluster for ARHGAP12 Gene:

Hs.499264

Evidence on tissue expression from TISSUES for ARHGAP12 Gene

  • Liver(4.3)
  • Nervous system(3.8)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with ARHGAP12: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP12 Gene

Orthologs for ARHGAP12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGAP12 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGAP12 30 31
  • 92.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgap12 30
  • 89.1 (n)
Mouse
(Mus musculus)
Mammalia Arhgap12 30 17 31
  • 89.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGAP12 30 31
  • 88.51 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP12 31
  • 87 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARHGAP12 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGAP12 30 31
  • 78.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGAP12 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgap12 30
  • 71.96 (n)
Str.20319 30
African clawed frog
(Xenopus laevis)
Amphibia arhgap12-prov 30
Zebrafish
(Danio rerio)
Actinopterygii arhgap12b 30
  • 62.42 (n)
arhgap12a 31
  • 57 (a)
OneToOne
zgc73239 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2619 30
Worm
(Caenorhabditis elegans)
Secernentea tag-325 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for ARHGAP12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 ARHGAP12 Gene

ENSEMBL:
Gene Tree for ARHGAP12 (if available)
TreeFam:
Gene Tree for ARHGAP12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP12: view image

Paralogs for ARHGAP12 Gene

Paralogs for ARHGAP12 Gene

genes like me logo Genes that share paralogs with ARHGAP12: view

Variants for ARHGAP12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP12 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
781939 Benign: not provided 31,908,840(-) T/G SYNONYMOUS_VARIANT
rs2808096 - p.Phe442Ser

Additional dbSNP identifiers (rs#s) for ARHGAP12 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP12 Gene

Variant ID Type Subtype PubMed ID
esv2659410 CNV deletion 23128226
esv3307119 CNV mobile element insertion 20981092
esv3309984 CNV mobile element insertion 20981092
esv3357421 CNV insertion 20981092
esv3411749 CNV insertion 20981092
esv3622817 CNV loss 21293372
nsv1038087 CNV gain 25217958
nsv1050608 CNV loss 25217958
nsv24963 CNV deletion 16902084
nsv947818 CNV duplication 23825009

Variation tolerance for ARHGAP12 Gene

Residual Variation Intolerance Score: 3.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.51; 85.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP12 Gene

Disorders for ARHGAP12 Gene

Additional Disease Information for ARHGAP12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ARHGAP12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGAP12 Gene

Publications for ARHGAP12 Gene

  1. KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise. (PMID: 18984674) Argyropoulos G … Rankinen T (Physiological genomics 2009) 3 41
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill LM … Peters EC (Analytical chemistry 2004) 3 4
  5. Cloning and characterization of ARHGAP12, a novel human rhoGAP gene. (PMID: 11854031) Zhang Z … Mao Y (The international journal of biochemistry & cell biology 2002) 2 3

Products for ARHGAP12 Gene

Sources for ARHGAP12 Gene