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Aliases for ARHGAP11A Gene

Aliases for ARHGAP11A Gene

  • Rho GTPase Activating Protein 11A 2 3 5
  • Rho-Type GTPase-Activating Protein 11A 4
  • GAP (1-12) 2
  • KIAA0013 4

External Ids for ARHGAP11A Gene

Previous GeneCards Identifiers for ARHGAP11A Gene

  • GC15P028150
  • GC15P025615
  • GC15P030486
  • GC15P030623
  • GC15P030694
  • GC15P032907
  • GC15P009778

Summaries for ARHGAP11A Gene

Entrez Gene Summary for ARHGAP11A Gene

  • This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. [provided by RefSeq, Sep 2016]

GeneCards Summary for ARHGAP11A Gene

ARHGAP11A (Rho GTPase Activating Protein 11A) is a Protein Coding gene. 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 ARHGAP11B.

Additional gene information for ARHGAP11A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP11A Gene

Genomics for ARHGAP11A Gene

GeneHancer (GH) Regulatory Elements for ARHGAP11A Gene

Promoters and enhancers for ARHGAP11A 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
GH15I032613 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.8 1768 4.2 HDGF ATF1 ARID4B SIN3A DMAP1 NCOA2 ATF7 NFYC MXD4 REST LOC101928042 ENSG00000244952 ARHGAP11A GOLGA8N WHAMMP1 PIR49933
GH15I032669 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.9 +57.2 57249 3.6 SOX13 FOXA2 ZBTB21 CEBPG RFX5 GATA3 RCOR1 NR2F6 ATF7 MAFK GC15P032669 ARHGAP11A GREM1 GOLGA8O LOC105370757 SCG5
GH15I032827 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 4.5 +216.2 216211 4.3 PKNOX1 ZNF449 INSM2 MZF1 FEZF1 ZNF121 FOSL2 FOS KLF8 ZNF189 GREM1 LOC105370757 SCG5 ENSG00000212415 ARHGAP11A ENSG00000259392 PIR43820 FMN1
GH15I032823 Enhancer 1.1 Ensembl ENCODE dbSUPER 4.5 +211.4 211447 2.8 CTCF PKNOX1 FOXA2 JUN ZNF133 RAD21 GATA3 POLR2A SMC3 FOSL2 PIR43820 GREM1 LOC105370757 SCG5 ARHGAP11A ENSG00000259392 FMN1
GH15I032663 Enhancer 0.4 dbSUPER 6 +51.1 51064 3.4 CTCF HLF SCG5 GREM1 ENSG00000212415 GOLGA8O ARHGAP11A GOLGA8N LOC105370757 GC15P032669
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARHGAP11A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARHGAP11A gene promoter:

Genomic Locations for ARHGAP11A Gene

Genomic Locations for ARHGAP11A Gene
chr15:32,613,733-32,639,949
(GRCh38/hg38)
Size:
26,217 bases
Orientation:
Plus strand
chr15:32,907,345-32,932,150
(GRCh37/hg19)

Genomic View for ARHGAP11A Gene

Genes around ARHGAP11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP11A Gene

Proteins for ARHGAP11A Gene

  • Protein details for ARHGAP11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P4F7-RHGBA_HUMAN
    Recommended name:
    Rho GTPase-activating protein 11A
    Protein Accession:
    Q6P4F7
    Secondary Accessions:
    • B4DZN9
    • Q6PI96
    • Q9Y3S6

    Protein attributes for ARHGAP11A Gene

    Size:
    1023 amino acids
    Molecular mass:
    113866 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA13442.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGAP11A Gene

    Alternative splice isoforms for ARHGAP11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP11A Gene

Post-translational modifications for ARHGAP11A Gene

No Post-translational modifications

No data available for DME Specific Peptides for ARHGAP11A Gene

Domains & Families for ARHGAP11A Gene

Gene Families for ARHGAP11A Gene

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

Protein Domains for ARHGAP11A Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARHGAP11A: view

No data available for UniProtKB/Swiss-Prot for ARHGAP11A Gene

Function for ARHGAP11A Gene

Phenotypes From GWAS Catalog for ARHGAP11A Gene

Gene Ontology (GO) - Molecular Function for ARHGAP11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
genes like me logo Genes that share ontologies with ARHGAP11A: view

Phenotypes for ARHGAP11A Gene

genes like me logo Genes that share phenotypes with ARHGAP11A: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP11A Gene

Localization for ARHGAP11A 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 ARHGAP11A gene
Compartment Confidence
cytosol 5
nucleus 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ARHGAP11A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP11A Gene

Pathways & Interactions for ARHGAP11A Gene

genes like me logo Genes that share pathways with ARHGAP11A: view

Pathways by source for ARHGAP11A Gene

3 Reactome pathways for ARHGAP11A Gene

Gene Ontology (GO) - Biological Process for ARHGAP11A 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 ARHGAP11A: view

No data available for SIGNOR curated interactions for ARHGAP11A Gene

Drugs & Compounds for ARHGAP11A Gene

No Compound Related Data Available

Transcripts for ARHGAP11A Gene

Unigene Clusters for ARHGAP11A Gene

Rho GTPase activating protein 11A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP11A Gene

No ASD Table

Relevant External Links for ARHGAP11A Gene

GeneLoc Exon Structure for
ARHGAP11A
ECgene alternative splicing isoforms for
ARHGAP11A

Expression for ARHGAP11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGAP11A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP11A Gene

This gene is overexpressed in Cerebrospinal fluid (64.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARHGAP11A Gene



Protein tissue co-expression partners for ARHGAP11A Gene

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP11A Gene:

ARHGAP11A

SOURCE GeneReport for Unigene cluster for ARHGAP11A Gene:

Hs.591130

Evidence on tissue expression from TISSUES for ARHGAP11A Gene

  • Bone marrow(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with ARHGAP11A: view

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 ARHGAP11A Gene

Orthologs for ARHGAP11A Gene

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

Orthologs for ARHGAP11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP11A 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia ARHGAP11A 33
  • 85.27 (n)
dog
(Canis familiaris)
Mammalia ARHGAP11A 33
  • 84.99 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap11a 33
  • 79.31 (n)
mouse
(Mus musculus)
Mammalia Arhgap11a 33 16 34
  • 78.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 54 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ARHGAP11A 33 34
  • 62.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 46 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap11a.1 33
  • 55.18 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap11a 33 34
  • 56.51 (n)
wufc55g06 33
fruit fly
(Drosophila melanogaster)
Insecta cv-c 34
  • 7 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gei-1 34
  • 9 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LRG1 34
  • 8 (a)
OneToMany
Species where no ortholog for ARHGAP11A 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)
  • 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)

Evolution for ARHGAP11A Gene

ENSEMBL:
Gene Tree for ARHGAP11A (if available)
TreeFam:
Gene Tree for ARHGAP11A (if available)

Paralogs for ARHGAP11A Gene

(2) SIMAP similar genes for ARHGAP11A Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for ARHGAP11A Gene

genes like me logo Genes that share paralogs with ARHGAP11A: view

Variants for ARHGAP11A Gene

Sequence variations from dbSNP and Humsavar for ARHGAP11A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs146176251 likely-benign, Autism spectrum disorders, Macrocephaly 32,635,787(+) C/G/T coding_sequence_variant, missense_variant
rs372419991 likely-benign, Autism spectrum disorders, Macrocephaly 32,628,797(+) G/T coding_sequence_variant, missense_variant
rs555387669 likely-pathogenic, Inborn genetic diseases 32,637,143(+) AT/ coding_sequence_variant, frameshift, genic_downstream_transcript_variant
VAR_035546 A breast cancer sample p.Glu605Lys
rs1000020007 -- 32,630,654(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP11A Gene

Variant ID Type Subtype PubMed ID
dgv2538n100 CNV loss 25217958
dgv2544n100 CNV gain+loss 25217958
dgv2547n100 CNV loss 25217958
dgv4456n54 CNV gain 21841781
dgv4457n54 CNV loss 21841781
esv21965 CNV gain+loss 19812545
esv2422296 CNV duplication 17116639
esv2760023 CNV gain+loss 17122850
esv2760365 CNV gain+loss 21179565
esv33337 CNV gain+loss 17666407
esv3892661 CNV gain 25118596
nsv1052620 CNV gain 25217958
nsv1481 CNV deletion 18451855
nsv428302 CNV gain+loss 18775914
nsv456785 CNV gain 19166990
nsv469587 CNV loss 16826518
nsv483039 CNV gain 15286789
nsv517740 CNV gain+loss 19592680
nsv568913 CNV gain 21841781
nsv9239 CNV loss 18304495
nsv977696 CNV duplication 23825009

Variation tolerance for ARHGAP11A Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP11A Gene

Human Gene Mutation Database (HGMD)
ARHGAP11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP11A Gene

Disorders for ARHGAP11A Gene

Additional Disease Information for ARHGAP11A

No disorders were found for ARHGAP11A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGAP11A Gene

Publications for ARHGAP11A Gene

  1. 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 58
  2. A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. (PMID: 11829490) Riley B … Makoff A (Genomics 2002) 2 3 58
  3. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Rho GTPase Transcriptome Analysis Reveals Oncogenic Roles for Rho GTPase-Activating Proteins in Basal-like Breast Cancers. (PMID: 27216196) Lawson CD … Rossman KL (Cancer research 2016) 3 58

Products for ARHGAP11A Gene

Sources for ARHGAP11A Gene

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