The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016] See more...

Aliases for ARHGAP20 Gene

Aliases for ARHGAP20 Gene

  • Rho GTPase Activating Protein 20 2 3 5
  • Rho-Type GTPase-Activating Protein 20 3 4
  • Rho GTPase-Activating Protein 20 3 4
  • Rho GTPase Activating Protein 20 Variant 2 3
  • RA And RhoGAP Domain Containing Protein 3
  • RARHOGAP 3
  • KIAA1391 4

External Ids for ARHGAP20 Gene

Previous GeneCards Identifiers for ARHGAP20 Gene

  • GC11M109985
  • GC11M109952
  • GC11M110447
  • GC11M106372

Summaries for ARHGAP20 Gene

Entrez Gene Summary for ARHGAP20 Gene

  • The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]

GeneCards Summary for ARHGAP20 Gene

ARHGAP20 (Rho GTPase Activating Protein 20) is a Protein Coding gene. Diseases associated with ARHGAP20 include Lymphocytic Leukemia. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TAGAP.

UniProtKB/Swiss-Prot Summary for ARHGAP20 Gene

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

Additional gene information for ARHGAP20 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP20 Gene

Genomics for ARHGAP20 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP20 Gene

Promoters and enhancers for ARHGAP20 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
GH11J110710 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 512.8 +1.3 1288 3.8 USF1 CTCF ZIC2 ZBTB10 ZNF423 ZBTB26 SKI HDAC2 MXI1 ZNF341 ARHGAP20 lnc-FDX1-3 piR-34009-007
GH11J110797 Enhancer 1.1 FANTOM5 Ensembl ENCODE 6 -86.5 -86512 5.8 EP300 RELA TRIM22 BCL11A NR2F2 TCF12 CBFB ZNF384 MEF2B NBN ARHGAP20 RDX HNRNPA1P60 piR-60146-024
GH11J110490 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.4 +221.4 221388 7.2 ZNF10 RBM25 FOS NFE2 FOSL1 MAFG ATF2 ZFP36 MYC MAX FDX1 ZC3H12C ARHGAP20 RDX lnc-FDX1-2 piR-38423-009
GH11J110762 Enhancer 0.9 Ensembl ENCODE 5.1 -50.3 -50312 2.2 RFX1 ATF2 FOXA2 WT1 MEF2B ZBTB33 JUND ZFHX2 STAT3 ZNF335 ARHGAP20 HNRNPA1P60
GH11J110759 Enhancer 0.8 Ensembl ENCODE 5.4 -46.8 -46829 1 ZSCAN5C ZNF341 OSR2 WT1 ZBTB17 ZBTB48 ZNF335 ZNF843 PRDM6 FEZF1 ARHGAP20 HNRNPA1P60
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP20 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP20

Top Transcription factor binding sites by QIAGEN in the ARHGAP20 gene promoter:
  • AREB6
  • C/EBPalpha
  • Egr-2
  • FOXD3
  • Meis-1
  • Meis-1a
  • Meis-1b
  • NF-1
  • Nkx2-5
  • RP58

Genomic Locations for ARHGAP20 Gene

Genomic Locations for ARHGAP20 Gene
chr11:110,576,855-110,713,189
(GRCh38/hg38)
Size:
136,335 bases
Orientation:
Minus strand
chr11:110,447,766-110,583,912
(GRCh37/hg19)
Size:
136,147 bases
Orientation:
Minus strand

Genomic View for ARHGAP20 Gene

Genes around ARHGAP20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP20 Gene

Proteins for ARHGAP20 Gene

  • Protein details for ARHGAP20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2F6-RHG20_HUMAN
    Recommended name:
    Rho GTPase-activating protein 20
    Protein Accession:
    Q9P2F6
    Secondary Accessions:
    • A8K8C5
    • B0YIW7
    • B0YIW8
    • Q6RJU1
    • Q6RJU2
    • Q6RJU3
    • Q6RJU5
    • Q8IXS1

    Protein attributes for ARHGAP20 Gene

    Size:
    1191 amino acids
    Molecular mass:
    132608 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH39340.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH39340.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAA92629.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAF84979.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAF84979.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGAP20 Gene

    Alternative splice isoforms for ARHGAP20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP20 Gene

Post-translational modifications for ARHGAP20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP20 Gene

Domains & Families for ARHGAP20 Gene

Gene Families for ARHGAP20 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ARHGAP20 Gene

Blocks:
  • RhoGAP domain
  • Pleckstrin-like
  • RA domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP20 Gene

GenScript: Design optimal peptide antigens:
  • Rho-type GTPase-activating protein 20 (RHG20_HUMAN)
genes like me logo Genes that share domains with ARHGAP20: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP20 Gene

Function for ARHGAP20 Gene

Molecular function for ARHGAP20 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 ARHGAP20 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
genes like me logo Genes that share ontologies with ARHGAP20: view
genes like me logo Genes that share phenotypes with ARHGAP20: view

Animal Model Products

CRISPR Products

miRNA for ARHGAP20 Gene

miRTarBase miRNAs that target ARHGAP20

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP20 Gene

Localization for ARHGAP20 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 ARHGAP20 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGAP20: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP20 Gene

Pathways & Interactions for ARHGAP20 Gene

genes like me logo Genes that share pathways with ARHGAP20: view

Pathways by source for ARHGAP20 Gene

3 Reactome pathways for ARHGAP20 Gene
1 GeneTex pathway for ARHGAP20 Gene

Gene Ontology (GO) - Biological Process for ARHGAP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGAP20: view

No data available for SIGNOR curated interactions for ARHGAP20 Gene

Drugs & Compounds for ARHGAP20 Gene

No Compound Related Data Available

Transcripts for ARHGAP20 Gene

mRNA/cDNA for ARHGAP20 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP20 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6: -

Relevant External Links for ARHGAP20 Gene

GeneLoc Exon Structure for
ARHGAP20

Expression for ARHGAP20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP20 Gene

This gene is overexpressed in Urine (43.2), Brain (9.5), and Plasma (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARHGAP20 Gene



Protein tissue co-expression partners for ARHGAP20 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP20

SOURCE GeneReport for Unigene cluster for ARHGAP20 Gene:

Hs.6136

mRNA Expression by UniProt/SwissProt for ARHGAP20 Gene:

Q9P2F6-RHG20_HUMAN
Tissue specificity: Expressed predominantly in the brain. Lower expression is found in lymph nodes.

Evidence on tissue expression from TISSUES for ARHGAP20 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ARHGAP20: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP20 Gene

Orthologs for ARHGAP20 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP20 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP20 31 30
  • 88.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGAP20 30
  • 88.21 (n)
-- 31
  • 85 (a)
ManyToMany
-- 31
  • 63 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Arhgap20 17 31 30
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap20 30
  • 81.06 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 69 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 46 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ARHGAP20 30
  • 65.83 (n)
-- 31
  • 51 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.4409 30
zebrafish
(Danio rerio)
Actinopterygii arhgap20b 31
  • 48 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea rga-2 31
  • 8 (a)
OneToMany
Species where no ortholog for ARHGAP20 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)
  • 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)
  • 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)

Evolution for ARHGAP20 Gene

ENSEMBL:
Gene Tree for ARHGAP20 (if available)
TreeFam:
Gene Tree for ARHGAP20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP20: view image

Paralogs for ARHGAP20 Gene

Paralogs for ARHGAP20 Gene

(1) SIMAP similar genes for ARHGAP20 Gene using alignment to 1 proteins:

  • RHG20_HUMAN
genes like me logo Genes that share paralogs with ARHGAP20: view

Variants for ARHGAP20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP20 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs193920992 Uncertain Significance: Malignant tumor of prostate 110,624,201(-) A/G MISSENSE_VARIANT
rs17853925 - p.Gly632Asp
rs7936020 - p.Ala522Thr

Additional dbSNP identifiers (rs#s) for ARHGAP20 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP20 Gene

Variant ID Type Subtype PubMed ID
dgv2183n54 CNV loss 21841781
dgv242n67 CNV loss 20364138
dgv722n106 CNV tandem duplication 24896259
esv1311954 CNV deletion 17803354
esv21558 CNV loss 19812545
esv2745065 CNV deletion 23290073
esv2745066 CNV deletion 23290073
esv2745067 CNV deletion 23290073
esv3331551 CNV duplication 20981092
nsv468868 CNV loss 19166990
nsv556436 CNV loss 21841781
nsv826088 CNV gain 20364138
nsv832266 CNV gain 17160897

Variation tolerance for ARHGAP20 Gene

Residual Variation Intolerance Score: 42.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP20 Gene

Disorders for ARHGAP20 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGAP20 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lymphocytic leukemia
  • lymphoblastic leukemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RHG20_HUMAN
  • Note=A chromosomal aberration involving ARHGAP20 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL) (PubMed:15543602). Translocation t(X;11)(q21;q23) with BRWD3 does not result in fusion transcripts but disrupts both genes (PubMed:15543602). {ECO:0000269 PubMed:15543602}.

Additional Disease Information for ARHGAP20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARHGAP20: view

No data available for Genatlas for ARHGAP20 Gene

Publications for ARHGAP20 Gene

  1. Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats. (PMID: 14532992) Katoh M … Katoh M (International journal of oncology 2003) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. (PMID: 15543602) Kalla C … Lichter P (Genes, chromosomes & cancer 2005) 3 4 54
  4. 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 54
  5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54

Products for ARHGAP20 Gene

Sources for ARHGAP20 Gene