ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008] See more...

Aliases for ARHGAP21 Gene

Aliases for ARHGAP21 Gene

  • Rho GTPase Activating Protein 21 2 3 5
  • ARHGAP10 2 3 4
  • Rho-Type GTPase-Activating Protein 21 3 4
  • Rho GTPase-Activating Protein 21 3 4
  • Rho GTPase-Activating Protein 10 3 4
  • KIAA1424 2 4
  • Rho-GTPase Activating Protein 10 3
  • ARHGAP21 5

External Ids for ARHGAP21 Gene

Previous GeneCards Identifiers for ARHGAP21 Gene

  • GC10M024876
  • GC10M024912
  • GC10M024534
  • GC10M024873

Summaries for ARHGAP21 Gene

Entrez Gene Summary for ARHGAP21 Gene

  • ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ARHGAP21 Gene

ARHGAP21 (Rho GTPase Activating Protein 21) is a Protein Coding gene. Diseases associated with ARHGAP21 include Ciliary Dyskinesia, Primary, 13 and Aarskog-Scott Syndrome. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is ARHGAP23.

UniProtKB/Swiss-Prot Summary for ARHGAP21 Gene

  • Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP21 Gene

Genomics for ARHGAP21 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARHGAP21 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 ARHGAP21 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP21

Top Transcription factor binding sites by QIAGEN in the ARHGAP21 gene promoter:
  • AML1a
  • GATA-1
  • GATA-2
  • GATA-3
  • Hlf
  • Lhx3a
  • LHX3b
  • NF-1
  • S8

Genomic Locations for ARHGAP21 Gene

Latest Assembly
chr10:24,583,609-24,725,421
(GRCh38/hg38)
Size:
141,813 bases
Orientation:
Minus strand

Previous Assembly
chr10:24,872,543-25,012,816
(GRCh37/hg19 by Entrez Gene)
Size:
140,274 bases
Orientation:
Minus strand

chr10:24,872,538-25,012,597
(GRCh37/hg19 by Ensembl)
Size:
140,060 bases
Orientation:
Minus strand

Genomic View for ARHGAP21 Gene

Genes around ARHGAP21 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP21 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP21 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP21 Gene

Proteins for ARHGAP21 Gene

  • Protein details for ARHGAP21 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T5U3-RHG21_HUMAN
    Recommended name:
    Rho GTPase-activating protein 21
    Protein Accession:
    Q5T5U3
    Secondary Accessions:
    • Q0VF98
    • Q7Z3P7
    • Q8N3A2
    • Q8NI19
    • Q8TBV5
    • Q9P2C3

    Protein attributes for ARHGAP21 Gene

    Size:
    1958 amino acids
    Molecular mass:
    217462 Da
    Quaternary structure:
    • Interacts with GTP-bound ARF1 and ARF6. Interacts with CTNNA1.
    SequenceCaution:
    • Sequence=AAM22955.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Depletion of ARHGAP21 induces cell spreading and accumulation of F-actin stress fibers.
    • Required for In1A-dependent entry of Listeria monocytogenes into cells.

    Three dimensional structures from OCA and Proteopedia for ARHGAP21 Gene

    Alternative splice isoforms for ARHGAP21 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP21 Gene

Post-translational modifications for ARHGAP21 Gene

  • Sumoylated with SUMO2 and SUMO3 in proliferating lymphocytes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP21 Gene

Domains & Families for ARHGAP21 Gene

Gene Families for ARHGAP21 Gene

Protein Domains for ARHGAP21 Gene

InterPro:
Blocks:
  • RhoGAP domain
  • Spectrin pleckstrin homology domain signature

Suggested Antigen Peptide Sequences for ARHGAP21 Gene

GenScript: Design optimal peptide antigens:
  • Rho GTPase activating protein 21 (Q5JSD4_HUMAN)
  • Rho GTPase activating protein 21 (Q5JSD7_HUMAN)
  • Rho GTPase activating protein 21 (Q5JSD8_HUMAN)
  • Rho GTPase activating protein 21 (Q5T5U1_HUMAN)
  • Rho GTPase activating protein 21 (Q5T5U2_HUMAN)
genes like me logo Genes that share domains with ARHGAP21: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP21 Gene

Function for ARHGAP21 Gene

Molecular function for ARHGAP21 Gene

UniProtKB/Swiss-Prot Function:
Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions.
UniProtKB/Swiss-Prot Induction:
Up-regulated upon cell differentiation.

Phenotypes From GWAS Catalog for ARHGAP21 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IEA,IPI 15161933
genes like me logo Genes that share ontologies with ARHGAP21: view
genes like me logo Genes that share phenotypes with ARHGAP21: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP21

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP21 Gene

Localization for ARHGAP21 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP21 Gene

Golgi apparatus membrane. Peripheral membrane protein. Cell junction. Cytoplasmic vesicle membrane. Peripheral membrane protein. Cytoplasm, cytoskeleton. Note=Localization to the Golgi is dependent on interaction with GTP-bound ARF1.

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 ARHGAP21 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA 20525016
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with ARHGAP21: view

Pathways & Interactions for ARHGAP21 Gene

genes like me logo Genes that share pathways with ARHGAP21: view

Pathways by source for ARHGAP21 Gene

3 Reactome pathways for ARHGAP21 Gene

SIGNOR curated interactions for ARHGAP21 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for ARHGAP21 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IMP 20525016
GO:0007165 signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
GO:0051645 Golgi localization IBA 21873635
genes like me logo Genes that share ontologies with ARHGAP21: view

Drugs & Compounds for ARHGAP21 Gene

(2) Drugs for ARHGAP21 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
HJC 0350 Pharma 0

(1) ApexBio Compounds for ARHGAP21 Gene

Compound Action Cas Number
HJC 0350 885434-70-8
genes like me logo Genes that share compounds with ARHGAP21: view

Drug products for research

Transcripts for ARHGAP21 Gene

mRNA/cDNA for ARHGAP21 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP21

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP21 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - - -
SP2:
SP3: - - - -
SP4:
SP5: -
SP6:
SP7:
SP8:

ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ARHGAP21 Gene

GeneLoc Exon Structure for
ARHGAP21

Expression for ARHGAP21 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP21 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP21 Gene

This gene is overexpressed in Plasma (29.4) and Fetal Brain (20.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP21 Gene



Protein tissue co-expression partners for ARHGAP21 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP21

SOURCE GeneReport for Unigene cluster for ARHGAP21 Gene:

Hs.524195

mRNA Expression by UniProt/SwissProt for ARHGAP21 Gene:

Q5T5U3-RHG21_HUMAN
Tissue specificity: Widely expressed with higher expression in brain, heart, skeletal muscle and placenta.

Evidence on tissue expression from TISSUES for ARHGAP21 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with ARHGAP21: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP21 Gene

Orthologs for ARHGAP21 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP21 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARHGAP21 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARHGAP21 29 30
  • 85.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARHGAP21 29 30
  • 84.96 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Arhgap21 29 16 30
  • 83.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arhgap21 29
  • 83.32 (n)
Oppossum
(Monodelphis domestica)
Mammalia ARHGAP21 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP21 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ARHGAP21 29 30
  • 75.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARHGAP21 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arhgap21 29
  • 67.44 (n)
Str.595 29
African clawed frog
(Xenopus laevis)
Amphibia rGAP 29
Zebrafish
(Danio rerio)
Actinopterygii arhgap21b 29 30
  • 59.47 (n)
OneToMany
arhgap21a 30
  • 50 (a)
OneToMany
wufe14a09 29
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGAP19D 30
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pac-1 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9299 30
  • 48 (a)
OneToMany
Species where no ortholog for ARHGAP21 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)
  • 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 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 ARHGAP21 Gene

ENSEMBL:
Gene Tree for ARHGAP21 (if available)
TreeFam:
Gene Tree for ARHGAP21 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP21: view image
Alliance of Genome Resources:
Additional Orthologs for ARHGAP21

Paralogs for ARHGAP21 Gene

Paralogs for ARHGAP21 Gene

(38) SIMAP similar genes for ARHGAP21 Gene using alignment to 8 proteins:

  • RHG21_HUMAN
  • E7ESW5_HUMAN
  • F8W9U9_HUMAN
  • H0Y468_HUMAN
  • H0Y5T2_HUMAN
  • J3JSM9_HUMAN
  • L8EB25_HUMAN
  • Q5JSD8_HUMAN

Pseudogenes.org Pseudogenes for ARHGAP21 Gene

genes like me logo Genes that share paralogs with ARHGAP21: view

Variants for ARHGAP21 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP21 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs1060499743 Likely Pathogenic: Abnormality of brain morphology 24,596,030(-) A/C
NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs1064795561 Uncertain Significance: not provided 24,620,103(-) TTC/T
NM_020824.4(ARHGAP21):c.1790_1791del (p.Arg597fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs111419738 Benign: not provided 24,596,856(-) C/T
NM_020824.4(ARHGAP21):c.3361G>A (p.Gly1121Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs111870263 Benign: not provided 24,620,935(-) T/G
NM_020824.4(ARHGAP21):c.960A>C (p.Pro320=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs1127893 Benign: not provided 24,584,440(-) C/Gp.Ser1950Asn
NM_020824.4(ARHGAP21):c.5849G>C (p.Ser1950Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARHGAP21 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP21 Gene

Variant ID Type Subtype PubMed ID
esv2666299 CNV deletion 23128226
esv2734095 CNV deletion 23290073
esv3333243 CNV insertion 20981092
esv3622649 CNV loss 21293372
nsv1037958 CNV gain 25217958
nsv473270 CNV novel sequence insertion 20440878
nsv6099 CNV insertion 18451855
nsv947769 CNV duplication 23825009
nsv947770 CNV duplication 23825009
nsv982895 CNV duplication 23825009

Variation tolerance for ARHGAP21 Gene

Residual Variation Intolerance Score: 3.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP21 Gene

Human Gene Mutation Database (HGMD)
ARHGAP21
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP21
Leiden Open Variation Database (LOVD)
ARHGAP21

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP21 Gene

Disorders for ARHGAP21 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ARHGAP21 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP21

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARHGAP21: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP21 Gene

Publications for ARHGAP21 Gene

  1. ARHGAP10, a novel human gene coding for a potentially cytoskeletal Rho-GTPase activating protein. (PMID: 12056806) Bassères DS … Saad ST (Biochemical and biophysical research communications 2002) 2 3 4
  2. Post-translational modification of the RhoGTPase activating protein 21, ARHGAP21, by SUMO2/3. (PMID: 22922005) Bigarella CL … Archangelo LF (FEBS letters 2012) 3 4
  3. Structural basis for ARF1-mediated recruitment of ARHGAP21 to Golgi membranes. (PMID: 17347647) Ménétrey J … Houdusse A (The EMBO journal 2007) 3 4
  4. 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 40
  5. Golgi-localized GAP for Cdc42 functions downstream of ARF1 to control Arp2/3 complex and F-actin dynamics. (PMID: 15793564) Dubois T … Chavrier P (Nature cell biology 2005) 3 4

Products for ARHGAP21 Gene

Sources for ARHGAP21 Gene