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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
External Ids for ARHGAP27 Gene
- HGNC: 31813
- Entrez Gene: 201176
- Ensembl: ENSG00000159314
- OMIM: 610591
- UniProtKB: Q6ZUM4
Previous HGNC Symbols for ARHGAP27 Gene
- SH3D20
Previous GeneCards Identifiers for ARHGAP27 Gene
- GC17M040827
- GC17M043475
- GC17M043476
- GC17M043488
- GC17M043538
Summaries 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
- Monarch Initiative
- Search for ARHGAP27 at DataMed
- Search for ARHGAP27 at HumanCyc
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
- 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:
-
- 17q21.31 by HGNC
- 17q21.31 by Entrez Gene
- 17q21.31 by Ensembl
ARHGAP27 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ARHGAP27 Gene
Post-translational modifications for ARHGAP27 Gene
Other Protein References for ARHGAP27 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-ARHGAP27 monoclonal antibody, clone FQS23361
-
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-
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Protein Products
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-
Quality Products:
No data available for DME Specific Peptides for ARHGAP27 Gene
Domains & Families for ARHGAP27 Gene
Gene Families for ARHGAP27 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ARHGAP27 Gene
- Blocks:
-
- RhoGAP domain
- Pleckstrin-like
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ARHGAP27 Gene
- GenScript: Design optimal peptide antigens:
-
- ARHGAP27 protein (Q8N2Y9_HUMAN)
- SH3 domain-containing protein 20 (RHG27_HUMAN)
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
| 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 | -- |
Phenotypes for ARHGAP27 Gene
Animal Model Products
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CRISPR Products
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miRNA for ARHGAP27 Gene
- miRTarBase miRNAs that target ARHGAP27
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Cell Line Products
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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.
| Compartment | Confidence |
|---|---|
| nucleus | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (1)
| 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 | -- |
Pathways & Interactions for ARHGAP27 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | Signaling by GPCR | ||
| 3 | Signaling by Rho GTPases | ||
Pathways by source for ARHGAP27 Gene
3 Reactome pathways for ARHGAP27 Gene
Interacting Proteins for ARHGAP27 Gene
GPS-Prot Interaction Network for ARHGAP27
| 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 | -- |
No data available for SIGNOR curated interactions for ARHGAP27 Gene
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 :
-
- ENST00000290470 1376 bps (ENST00000290470.3)
- ENST00000376922 3628 bps (ENST00000376922.6)
- ENST00000428638 4242 bps (ENST00000428638.5)
- ENST00000524404 969 bps (ENST00000524404.5)
- ENST00000526484 526 bps (ENST00000526484.5)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ARHGAP27 - Select products 50% OFF >
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-
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARHGAP27
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- Overview of 134 available ARHGAP27 gene related products
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Santa Cruz Biotechnology (SCBT) CRISPR for ARHGAP27
miRNA Products
Inhibitory RNA Products
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Clone Products
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-
- RC209629
- RC222412
- RC239743
- RG209629
- RG222412
- MR213224
- MR224354
- MR231292
- MG213224
- MG224354
- RR214785
- RC209629L3
- RC209629L3V
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- RC209629L4V
- RC222412L3
- RC222412L3V
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- RC222412L4V
- MR213224L3
- MR213224L3V
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- MR224354L3
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- RR214785L3
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- RR214785L4
- RR214785L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Relevant External Links for ARHGAP27 Gene
- GeneLoc Exon Structure for
- ARHGAP27
Expression 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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP27
SOURCE GeneReport for Unigene cluster for ARHGAP27 Gene:
Hs.205326mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ARHGAP27
- genomics-online: primer clones - Search for available ARHGAP27 Primer products
- Overview of 134 available ARHGAP27 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP27 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Arhgap27 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Arhgap27 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | ARHGAP27 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ARHGAP27 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ARHGAP27 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | arhgap27 30 |
|
||
| Str.11931 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15274 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC566523 30 |
|
||
| arhgap27l 31 |
|
OneToMany | |||
| arhgap27 31 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | tag-325 31 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BEM2 33 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP27 Gene
Disorders for ARHGAP27 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| koolen-de vries syndrome |
|
|
Search ARHGAP27 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ARHGAP27
No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP27 Gene
Publications for ARHGAP27 Gene
- Identification and characterization of ARHGAP27 gene in silico. (PMID: 15492870) Katoh Y … Katoh M (International journal of molecular medicine 2004) 3 4 23 54
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
- 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
- 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
- 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
ExternalLinks
Products for ARHGAP27 Gene
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- RC209629
- RC222412
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- MR224354
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- MG224354
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Sources for ARHGAP27 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
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