This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013] See more...

Aliases for ARHGAP27 Gene

Aliases for ARHGAP27 Gene

  • Rho GTPase Activating Protein 27 2 3 5
  • CIN85-Associated Multi-Domain-Containing Rho GTPase-Activating Protein 1 3 4
  • Rho-Type GTPase-Activating Protein 27 3 4
  • Rho GTPase-Activating Protein 27 3 4
  • SH3 Domain-Containing Protein 20 3 4
  • SH3 Domain Containing 20 2 3
  • CAMGAP1 3 4
  • SH3D20 3 4
  • SH3P20 3
  • PP905 3

External Ids for ARHGAP27 Gene

Previous HGNC Symbols for ARHGAP27 Gene

  • SH3D20

Previous GeneCards Identifiers for ARHGAP27 Gene

  • GC17M040827
  • GC17M043475
  • GC17M043476
  • GC17M043488
  • GC17M043538

Summaries for ARHGAP27 Gene

Entrez Gene Summary for ARHGAP27 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 pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]

GeneCards Summary for ARHGAP27 Gene

ARHGAP27 (Rho GTPase Activating Protein 27) is a Protein Coding gene. Diseases associated with ARHGAP27 include Koolen-De Vries Syndrome. 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 and SH3 domain binding. An important paralog of this gene is ARHGAP12.

UniProtKB/Swiss-Prot Summary for ARHGAP27 Gene

  • Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity).

Additional gene information for ARHGAP27 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP27 Gene

Genomics for ARHGAP27 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP27 Gene

Promoters and enhancers for ARHGAP27 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
GH17J045428 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 507.4 +3.8 3827 5.9 HNRNPK CTCF NRF1 POLR2G ZIC2 POLR2A CLOCK ZNF423 GABPA ZBTB26 ARHGAP27 LINC02210 LRRC37A4P PLEKHM1 FMNL1 lnc-PLEKHM1-2 RF00017-2410
GH17J045434 Promoter 0.3 Ensembl 500.7 -0.5 -479 0.6 ARHGAP27 LINC02210 lnc-ARHGAP27-1 PLEKHM1 RF00017-2410
GH17J045435 Enhancer 0.2 Ensembl 500.7 -1.3 -1280 0.2 ARHGAP27 lnc-ARHGAP27-1 PLEKHM1 RF00017-2410
GH17J045404 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.1 +23.6 23618 13.3 ZBTB40 POLR2G NCOR1 KDM6A POLR2A ZNF263 TGIF2 REST SKI TEAD1 lnc-PLEKHM1-2 LINC02210 LRRC37A4P ARHGAP27 FMNL1 SPATA32 LRRC37A PLEKHM1 ENSG00000224505 lnc-PLEKHM1-6
GH17J045305 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +120.7 120690 17.2 ZBTB40 EP300 TCF12 ZSCAN5C SIN3A MYC NRF1 POLR2G SP1 NCOR1 MAP3K14 FMNL1 SPATA32 LINC02210 ARHGAP27 GPATCH8 LRRC37A4P PLEKHM1 DND1P1 MAPK8IP1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP27 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP27

Top Transcription factor binding sites by QIAGEN in the ARHGAP27 gene promoter:
  • AML1a
  • AREB6
  • En-1
  • HEN1
  • HTF
  • IRF-1
  • RP58
  • XBP-1
  • YY1

Genomic Locations for ARHGAP27 Gene

Genomic Locations for ARHGAP27 Gene
chr17:45,393,902-45,434,421
(GRCh38/hg38)
Size:
40,520 bases
Orientation:
Minus strand
chr17:43,471,268-43,511,787
(GRCh37/hg19)
Size:
40,520 bases
Orientation:
Minus strand

Genomic View for ARHGAP27 Gene

Genes around ARHGAP27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP27 Gene

Proteins for ARHGAP27 Gene

  • Protein details for ARHGAP27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZUM4-RHG27_HUMAN
    Recommended name:
    Rho GTPase-activating protein 27
    Protein Accession:
    Q6ZUM4
    Secondary Accessions:
    • A4FU35
    • A8K3N5
    • C9JTF3
    • Q494U0
    • Q6NWZ8
    • Q8WY58

    Protein attributes for ARHGAP27 Gene

    Size:
    889 amino acids
    Molecular mass:
    98396 Da
    Quaternary structure:
    • Interacts with SH3KBP1/CIN85.
    SequenceCaution:
    • Sequence=AAI01389.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI01390.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI01391.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGAP27 Gene

    Alternative splice isoforms for ARHGAP27 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP27 Gene

Post-translational modifications for ARHGAP27 Gene

  • Ubiquitination at Lys551
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGAP27 Gene

Domains & Families for ARHGAP27 Gene

Gene Families for ARHGAP27 Gene

Protein Domains for ARHGAP27 Gene

Suggested Antigen Peptide Sequences for ARHGAP27 Gene

GenScript: Design optimal peptide antigens:
  • ARHGAP27 protein (Q8N2Y9_HUMAN)
  • SH3 domain-containing protein 20 (RHG27_HUMAN)
genes like me logo Genes that share domains with ARHGAP27: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP27 Gene

Function for ARHGAP27 Gene

Molecular function for ARHGAP27 Gene

UniProtKB/Swiss-Prot Function:
Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity).

Phenotypes From GWAS Catalog for ARHGAP27 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity ISS --
GO:0005515 protein binding IEA --
GO:0017124 SH3 domain binding ISS --
genes like me logo Genes that share ontologies with ARHGAP27: view
genes like me logo Genes that share phenotypes with ARHGAP27: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP27 Gene

Localization for ARHGAP27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP27 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

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 ARHGAP27 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGAP27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ARHGAP27: view

Pathways & Interactions for ARHGAP27 Gene

genes like me logo Genes that share pathways with ARHGAP27: view

Pathways by source for ARHGAP27 Gene

3 Reactome pathways for ARHGAP27 Gene

Gene Ontology (GO) - Biological Process for ARHGAP27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis ISS --
GO:0007165 signal transduction IEA --
GO:0043087 regulation of GTPase activity IBA 21873635
GO:0043547 positive regulation of GTPase activity ISS --
genes like me logo Genes that share ontologies with ARHGAP27: view

No data available for SIGNOR curated interactions for ARHGAP27 Gene

Drugs & Compounds for ARHGAP27 Gene

No Compound Related Data Available

Transcripts for ARHGAP27 Gene

mRNA/cDNA for ARHGAP27 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
19 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 ARHGAP27 Gene

No ASD Table

Relevant External Links for ARHGAP27 Gene

GeneLoc Exon Structure for
ARHGAP27

Expression for ARHGAP27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP27 Gene

mRNA differential expression in normal tissues according to GTEx for ARHGAP27 Gene

This gene is overexpressed in Whole Blood (x11.5) and Esophagus - Mucosa (x4.6).

Protein differential expression in normal tissues from HIPED for ARHGAP27 Gene

This gene is overexpressed in Heart (25.4), Cervix (16.1), and Lymph node (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP27 Gene



Protein tissue co-expression partners for ARHGAP27 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP27

SOURCE GeneReport for Unigene cluster for ARHGAP27 Gene:

Hs.205326

mRNA Expression by UniProt/SwissProt for ARHGAP27 Gene:

Q6ZUM4-RHG27_HUMAN
Tissue specificity: Expressed in germinal center B-cell, spleen, chronic lymphocytic leukemia, pancreatic cancer and lung cancer.

Evidence on tissue expression from TISSUES for ARHGAP27 Gene

  • Pancreas(4.1)
  • Liver(4)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with ARHGAP27: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP27 Gene

Orthologs for ARHGAP27 Gene

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

Orthologs for ARHGAP27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP27 31 30
  • 99.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgap27 30
  • 83.7 (n)
mouse
(Mus musculus)
Mammalia Arhgap27 17 31 30
  • 83.58 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 77 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 22 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARHGAP27 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP27 31 30
  • 67.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP27 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap27 30
  • 58.31 (n)
Str.11931 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15274 30
zebrafish
(Danio rerio)
Actinopterygii LOC566523 30
  • 54.36 (n)
arhgap27l 31
  • 27 (a)
OneToMany
arhgap27 31
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-325 31
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BEM2 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for ARHGAP27 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 ARHGAP27 Gene

ENSEMBL:
Gene Tree for ARHGAP27 (if available)
TreeFam:
Gene Tree for ARHGAP27 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP27: view image

Paralogs for ARHGAP27 Gene

Paralogs for ARHGAP27 Gene

(12) SIMAP similar genes for ARHGAP27 Gene using alignment to 6 proteins:

  • RHG27_HUMAN
  • E9PIR1_HUMAN
  • E9PK18_HUMAN
  • E9PNT2_HUMAN
  • E9PNX6_HUMAN
  • Q8N2Y9_HUMAN

Pseudogenes.org Pseudogenes for ARHGAP27 Gene

genes like me logo Genes that share paralogs with ARHGAP27: view

Variants for ARHGAP27 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP27 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs117139057 - p.His889Gln

Additional dbSNP identifiers (rs#s) for ARHGAP27 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP27 Gene

Variant ID Type Subtype PubMed ID
dgv123e55 CNV loss 17911159
dgv1472n106 CNV deletion 24896259
esv1009543 CNV insertion 20482838
esv22600 CNV loss 19812545
esv2676260 CNV deletion 23128226
esv2758691 CNV gain+loss 17122850
esv3640663 CNV loss 21293372
esv3640664 CNV loss 21293372
nsv1070831 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv428342 CNV gain 18775914
nsv511056 OTHER complex 20534489
nsv575103 CNV loss 21841781
nsv9562 CNV gain 18304495

Variation tolerance for ARHGAP27 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.03; 75.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP27 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP27 Gene

Disorders for ARHGAP27 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGAP27 Gene - From: DISEASES

Disorder Aliases PubMed IDs
koolen-de vries syndrome
  • kdvs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP27

genes like me logo Genes that share disorders with ARHGAP27: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP27 Gene

Publications for ARHGAP27 Gene

  1. Identification and characterization of ARHGAP27 gene in silico. (PMID: 15492870) Katoh Y … Katoh M (International journal of molecular medicine 2004) 3 4 23 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Identification and characterization of a novel Rho GTPase activating protein implicated in receptor-mediated endocytosis. (PMID: 15147912) Sakakibara T … Takeshima H (FEBS letters 2004) 2 3 54
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 54
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 54

Products for ARHGAP27 Gene

  • Biorbyt antibodies for ARHGAP27

Sources for ARHGAP27 Gene