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This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in pro... See more...
Aliases for ARHGAP31 Gene
Aliases for ARHGAP31 Gene
External Ids for ARHGAP31 Gene
- HGNC: 29216
- NCBI Entrez Gene: 57514
- Ensembl: ENSG00000031081
- OMIM®: 610911
- UniProtKB/Swiss-Prot: Q2M1Z3
Previous GeneCards Identifiers for ARHGAP31 Gene
- GC03P119013
- GC03P116388
Summaries for ARHGAP31 Gene
-
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
GeneCards Summary for ARHGAP31 Gene
ARHGAP31 (Rho GTPase Activating Protein 31) is a Protein Coding gene. Diseases associated with ARHGAP31 include Adams-Oliver Syndrome 1 and Adams-Oliver 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 and SH3 domain binding. An important paralog of this gene is ARHGAP32.
UniProtKB/Swiss-Prot Summary for ARHGAP31 Gene
-
Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.
Additional gene information for ARHGAP31 Gene
- HGNC (29216)
- NCBI Entrez Gene (57514)
- Ensembl (ENSG00000031081)
- OMIM® (610911)
- UniProtKB/Swiss-Prot (Q2M1Z3)
- Open Targets Platform(ENSG00000031081)
- Monarch Initiative
- Alliance of Genome Resources
- Search for ARHGAP31 at DataMed
- Search for ARHGAP31 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP31 Gene
Genomics for ARHGAP31 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ARHGAP31 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 ARHGAP31 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP31
Genomic Locations for ARHGAP31 Gene
Latest Assembly
- chr3:119,294,289-119,420,714
- (GRCh38/hg38)
- Size:
- 126,426 bases
- Orientation:
- Plus strand
Previous Assembly
- chr3:119,013,230-119,139,561
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 126,332 bases
- Orientation:
- Plus strand
Genomic View for ARHGAP31 Gene
Genes around ARHGAP31 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q13.32-q13.33 by HGNC
- 3q13.32-q13.33 by Entrez Gene
- 3q13.32 by Ensembl
ARHGAP31 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 ARHGAP31 Gene
Proteins for ARHGAP31 Gene
-
Protein details for ARHGAP31 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q2M1Z3-RHG31_HUMAN
- Recommended name:
- Rho GTPase-activating protein 31
- Protein Accession:
- Q2M1Z3
- Q9ULL6
Protein attributes for ARHGAP31 Gene
- Size:
- 1444 amino acids
- Molecular mass:
- 156985 Da
- Quaternary structure:
-
- Interacts with ITSN1, which inhibits GAP activity. Interacts with PARVA (By similarity). Interacts with GTP-loaded RHOU.
- SequenceCaution:
-
- Sequence=BAA86518.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for ARHGAP31 Gene
Post-translational modifications for ARHGAP31 Gene
- Phosphorylation on Thr-789 reduces GAP activity.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ARHGAP31 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for ARHGAP31
- Invitrogen Antibodies for ARHGAP31 (AFLGC-ARHGAP31)
-
Boster Bio Antibodies for ARHGAP31
-
Santa Cruz Biotechnology (SCBT) Antibodies for ARHGAP31
Protein products for research
-
OriGene Purified Proteins for ARHGAP31
- Search Origene for MassSpec and Protein Over-expression Lysates for ARHGAP31
- Origene Custom Protein Services for ARHGAP31
Assay products for research
No data available for DME Specific Peptides for ARHGAP31 Gene
Domains & Families for ARHGAP31 Gene
Gene Families for ARHGAP31 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ARHGAP31 Gene
- InterPro:
- Blocks:
-
- RhoGAP domain
Suggested Antigen Peptide Sequences for ARHGAP31 Gene
- GenScript: Design optimal peptide antigens:
-
- Cdc42 GTPase-activating protein (RHG31_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP31 Gene
Function for ARHGAP31 Gene
Molecular function for ARHGAP31 Gene
- UniProtKB/Swiss-Prot Function:
- Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration.
Phenotypes From GWAS Catalog for ARHGAP31 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IBA | 21873635 |
| GO:0017124 | SH3 domain binding | IEA | -- |
Phenotypes for ARHGAP31 Gene
- MGI mutant phenotypes for ARHGAP31:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ARHGAP31:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ARHGAP31 - Starting at $85 >
- * ARHGAP31 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ARHGAP31
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARHGAP31
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARHGAP31
miRNA for ARHGAP31 Gene
- miRTarBase miRNAs that target ARHGAP31
-
- mmu-miR-181a-5p (MIRT014065)
- hsa-miR-6770-3p (MIRT494692)
- hsa-miR-6825-5p (MIRT494693)
- hsa-miR-4730 (MIRT494694)
- hsa-miR-6883-5p (MIRT494695)
- hsa-miR-6785-5p (MIRT494696)
- hsa-miR-4728-5p (MIRT494697)
- hsa-miR-7106-5p (MIRT494698)
- hsa-miR-149-3p (MIRT494699)
- hsa-miR-8085 (MIRT494700)
- hsa-miR-6731-5p (MIRT494701)
- hsa-miR-663a (MIRT494702)
- hsa-miR-6787-5p (MIRT494703)
- hsa-miR-1908-5p (MIRT494704)
- hsa-miR-6797-5p (MIRT494705)
- hsa-miR-1249-5p (MIRT494706)
- hsa-miR-765 (MIRT494707)
- hsa-miR-4706 (MIRT494708)
- hsa-miR-4749-5p (MIRT494709)
- hsa-miR-6133 (MIRT494710)
- hsa-miR-6130 (MIRT494711)
- hsa-miR-6129 (MIRT494712)
- hsa-miR-6127 (MIRT494713)
- hsa-miR-4510 (MIRT494714)
- hsa-miR-4419a (MIRT494715)
- hsa-miR-4784 (MIRT494716)
- hsa-miR-3150b-3p (MIRT494717)
- hsa-miR-6889-5p (MIRT494718)
- hsa-miR-6777-5p (MIRT494719)
- hsa-miR-4756-5p (MIRT494720)
- hsa-miR-4739 (MIRT494721)
- hsa-miR-1321 (MIRT494722)
- hsa-miR-6873-5p (MIRT494723)
- hsa-miR-6760-5p (MIRT494724)
- hsa-miR-3680-3p (MIRT660535)
- hsa-miR-576-5p (MIRT660536)
- hsa-miR-33b-5p (MIRT660537)
- hsa-miR-33a-5p (MIRT660538)
- hsa-miR-4735-5p (MIRT660539)
- hsa-miR-133a-5p (MIRT790106)
- hsa-miR-138-5p (MIRT790112)
- hsa-miR-3189-5p (MIRT790262)
- hsa-miR-3692-5p (MIRT790341)
- hsa-miR-4758-3p (MIRT790616)
- hsa-miR-544a (MIRT790730)
- hsa-miR-548q (MIRT790749)
- hsa-miR-5699-5p (MIRT790784)
- hsa-miR-6071 (MIRT790805)
- hsa-miR-6131 (MIRT790827)
- hsa-miR-6738-3p (MIRT790908)
- hsa-miR-6828-3p (MIRT791002)
- hsa-miR-93-3p (MIRT791163)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARHGAP31
- Browse OriGene Inhibitory RNA Products For ARHGAP31
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP31
Clone products for research
- Applied Biological Materials (abm): Clones for ARHGAP31 - Starting at $45 >
- * ARHGAP31 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ARHGAP31
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARHGAP31
Cell Lines for research
-
Horizon Cell Lines for ARHGAP31
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP31 Gene
Localization for ARHGAP31 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP31 Gene
- Cell projection, lamellipodium. Cell junction, focal adhesion.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
| GO:0005925 | focal adhesion | IEA | -- |
| GO:0030027 | lamellipodium | IBA | 21873635 |
| GO:0030054 | cell junction | IEA | -- |
| GO:0042995 | cell projection | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP31 Gene
Pathways & Interactions for ARHGAP31 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeletal Signaling | ||
| 2 | p75 NTR receptor-mediated signalling |
.36
|
|
| 3 | Signaling by GPCR | ||
| 4 | Signaling by Rho GTPases | ||
| 5 | G-protein signaling_Regulation of CDC42 activity |
G-protein signaling_Regulation of CDC42 activity
-
|
|
Pathways by source for ARHGAP31 Gene
3 Reactome pathways for ARHGAP31 Gene
1 GeneGo (Thomson Reuters) pathway for ARHGAP31 Gene
- G-protein signaling_Regulation of CDC42 activity
1 Cell Signaling Technology pathway for ARHGAP31 Gene
Interacting Proteins for ARHGAP31 Gene
Selected Interacting proteins:
Q2M1Z3-RHG31_HUMAN
ENSP00000264245
for ARHGAP31 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for ARHGAP31
SIGNOR curated interactions for ARHGAP31 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007264 | small GTPase mediated signal transduction | IEA,IBA | 21873635 |
| GO:0043547 | positive regulation of GTPase activity | IEA | -- |
| GO:0051056 | regulation of small GTPase mediated signal transduction | TAS | -- |
Transcripts for ARHGAP31 Gene
mRNA/cDNA for ARHGAP31 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264245 9307 nts (view in UCSC)
- ENST00000482743 551 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ARHGAP31 - Starting at $85 >
- * ARHGAP31 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ARHGAP31
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARHGAP31
-
Santa Cruz Biotechnology (SCBT) CRISPR for ARHGAP31
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ARHGAP31
- Browse OriGene Inhibitory RNA Products For ARHGAP31
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP31
Clone products for research
- Applied Biological Materials (abm): Clones for ARHGAP31 - Starting at $45 >
- * ARHGAP31 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ARHGAP31
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARHGAP31
Relevant External Links for ARHGAP31 Gene
- GeneLoc Exon Structure for
- ARHGAP31
Expression for ARHGAP31 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Surface Ectoderm (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Surface Ectoderm
- Endothelium (Cardiovascular System)
-
Ectoderm (Gastrulation Derivatives)
- Surface Ectoderm Cells Surface Ectoderm
-
Epidermis (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- NULL (Uncategorized)
-
Lung (Respiratory System)
This gene is overexpressed in Esophagus (22.2), Pancreas (15.9), and CD8 Tcells (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP31 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP31
SOURCE GeneReport for Unigene cluster for ARHGAP31 Gene:
Hs.668218Evidence on tissue expression from TISSUES for ARHGAP31 Gene
- Nervous system(4.6)
- Liver(4.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP31 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- outer ear
- scalp
- skull
Thorax:
- aorta
- breast
- chest wall
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
Primer products for research
-
OriGene qPCR primer pairs for ARHGAP31
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ARHGAP31 Gene
Orthologs for ARHGAP31 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP31 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ARHGAP31 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ARHGAP31 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Arhgap31 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Arhgap31 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ARHGAP31 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ARHGAP31 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ARHGAP31 30 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | arhgap31 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CdGAPr 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RGD1 30 |
|
OneToMany |
- Species where no ortholog for ARHGAP31 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Platypus (Ornithorhynchus anatinus)
- 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 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ARHGAP31 Gene
- ENSEMBL:
- Gene Tree for ARHGAP31 (if available)
- TreeFam:
- Gene Tree for ARHGAP31 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ARHGAP31: view image
- Alliance of Genome Resources:
- Additional Orthologs for ARHGAP31
Paralogs for ARHGAP31 Gene
(20) SIMAP similar genes for ARHGAP31 Gene using alignment to 2 proteins:
- RHG31_HUMAN
- C9J652_HUMAN
Variants for ARHGAP31 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP31 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1010250 | Uncertain Significance: not provided | 119,416,136(+) |
G/T NM_020754.4(ARHGAP31):c.4207G>T (p.Val1403Phe) |
MISSENSE | |
| 1028180 | Uncertain Significance: Adams-Oliver syndrome 1 | 119,365,357(+) |
C/T NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr) |
MISSENSE | |
| 1028181 | Uncertain Significance: Adams-Oliver syndrome 1 | 119,414,936(+) |
G/A NM_020754.4(ARHGAP31):c.3007G>A (p.Ala1003Thr) |
MISSENSE | |
| 1028182 | Uncertain Significance: Adams-Oliver syndrome 1 | 119,390,847(+) |
A/G NM_020754.4(ARHGAP31):c.745A>G (p.Ser249Gly) |
MISSENSE | |
| 930605 | Uncertain Significance: Adams-Oliver syndrome 1 | 119,414,340(+) |
C/A NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.23;
52.49% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ARHGAP31 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP31 Gene
Disorders for ARHGAP31 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adams-oliver syndrome 1 |
|
|
| adams-oliver syndrome |
|
|
| oliver syndrome |
|
|
| epileptic encephalopathy, childhood-onset |
|
|
| aortic valve disease 1 |
|
|
Search ARHGAP31 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RHG31_HUMAN- Adams-Oliver syndrome 1 (AOS1) [MIM:100300]: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269 PubMed:21565291}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for ARHGAP31
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for ARHGAP31 Gene
Publications for ARHGAP31 Gene
- The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA. (PMID: 16519628) Tcherkezian J … Lamarche-Vane N (Biology of the cell 2006) 2 3 4 22
- Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. (PMID: 21565291) Southgate L … Trembath RC (American journal of human genetics 2011) 3 4 72
- Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois PC … van Heel DA (Nature genetics 2010) 3 40
- GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2. (PMID: 12819203) Zhao C … Feng GS (The Journal of biological chemistry 2003) 2 3
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4
ExternalLinks
Products for ARHGAP31 Gene
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- VectorBuilder Viral vectors for ARHGAP31 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ARHGAP31 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ARHGAP31 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ARHGAP31
- antibodies-online: Show 17 available ARHGAP31 Antibodies ranked by validation data
- Compare Top ARHGAP31 Antibodies
- antibodies-online: Search results for available ARHGAP31 related products ranked by validation data
- antibodies-online: Search results for available ARHGAP31 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for ARHGAP31
- Search Santa Cruz Biotechnology (SCBT) for ARHGAP31 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ARHGAP31
- Horizon Cell Lines for ARHGAP31
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ARHGAP31
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ARHGAP31
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ARHGAP31
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP31
- Boster Bio Antibodies for ARHGAP31
- Browse Boster Bio ELISA Kits
Sources for ARHGAP31 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources