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

  • Rho GTPase Activating Protein 31 2 3 5
  • Rho GTPase-Activating Protein 31 3 4
  • Cdc42 GTPase-Activating Protein 3 4
  • CDGAP 3 4
  • KIAA1204 4
  • AOS1 3

External Ids for ARHGAP31 Gene

Previous GeneCards Identifiers for ARHGAP31 Gene

  • GC03P119013
  • GC03P116388

Summaries for ARHGAP31 Gene

Entrez Gene Summary 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 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 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.

Gene Wiki entry for ARHGAP31 Gene

Additional gene information for ARHGAP31 Gene

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 for ARHGAP31 Gene

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 UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP31

Genomic Locations for ARHGAP31 Gene

Genomic Locations for ARHGAP31 Gene
chr3:119,294,289-119,420,714
(GRCh38/hg38)
Size:
126,426 bases
Orientation:
Plus strand
chr3:119,013,220-119,139,561
(GRCh37/hg19)
Size:
126,342 bases
Orientation:
Plus strand

Genomic View for ARHGAP31 Gene

Genes around ARHGAP31 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP31 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP31 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

neXtProt entry for ARHGAP31 Gene

Post-translational modifications for ARHGAP31 Gene

Other Protein References for ARHGAP31 Gene

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

Blocks:
  • RhoGAP domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP31 Gene

GenScript: Design optimal peptide antigens:
  • Cdc42 GTPase-activating protein (RHG31_HUMAN)
genes like me logo Genes that share domains with ARHGAP31: view

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

Gene Ontology (GO) - Molecular Function for ARHGAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA 21873635
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ARHGAP31: view
genes like me logo Genes that share phenotypes with ARHGAP31: view

Human Phenotype Ontology for ARHGAP31 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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 ARHGAP31 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for ARHGAP31 Gene

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 --
genes like me logo Genes that share ontologies with ARHGAP31: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARHGAP31 Gene

Pathways & Interactions for ARHGAP31 Gene

genes like me logo Genes that share pathways with ARHGAP31: view

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

Gene Ontology (GO) - Biological Process for ARHGAP31 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IBA,IEA 21873635
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 ARHGAP31: view

No data available for SIGNOR curated interactions for ARHGAP31 Gene

Drugs & Compounds for ARHGAP31 Gene

No Compound Related Data Available

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARHGAP31

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP31 Gene

No ASD Table

Relevant External Links for ARHGAP31 Gene

GeneLoc Exon Structure for
ARHGAP31

Expression for ARHGAP31 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP31 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP31 Gene

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.668218

Evidence on tissue expression from TISSUES for ARHGAP31 Gene

  • Nervous system(4.5)
  • Liver(4.2)

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
genes like me logo Genes that share expression patterns with ARHGAP31: view

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.

Orthologs for ARHGAP31 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP31 31 30
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGAP31 31 30
  • 87.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP31 31 30
  • 86.86 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgap31 30
  • 83.02 (n)
mouse
(Mus musculus)
Mammalia Arhgap31 17 31 30
  • 82.74 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP31 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP31 31
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP31 31
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii arhgap31 31
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CdGAPr 31
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGD1 31
  • 18 (a)
OneToMany
Species where no ortholog for ARHGAP31 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • 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

Paralogs for ARHGAP31 Gene

Paralogs for ARHGAP31 Gene

(20) SIMAP similar genes for ARHGAP31 Gene using alignment to 2 proteins:

  • RHG31_HUMAN
  • C9J652_HUMAN
genes like me logo Genes that share paralogs with ARHGAP31: view

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
638381 Likely Benign: Adams-Oliver syndrome 1 119,416,068(+) C/T MISSENSE_VARIANT
rs10049221 Likely Benign: Adams-Oliver syndrome 119,382,285(+) A/G INTRON_VARIANT
rs113918185 Likely Benign: Adams-Oliver syndrome 119,417,483(+) C/T THREE_PRIME_UTR_VARIANT
rs11391882 Benign: Adams-Oliver syndrome 119,417,249(+) A/AC THREE_PRIME_UTR_VARIANT
rs114261128 Likely Benign: Adams-Oliver syndrome 119,417,440(+) T/G THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for ARHGAP31 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP31 Gene

Variant ID Type Subtype PubMed ID
esv3597556 CNV loss 21293372
esv997290 CNV deletion 20482838
nsv1110948 OTHER inversion 24896259
nsv3962 CNV deletion 18451855
nsv822227 CNV loss 20364138
nsv829694 CNV gain 17160897

Variation tolerance for ARHGAP31 Gene

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

Human Gene Mutation Database (HGMD)
ARHGAP31
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP31

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP31 Gene

Disorders for ARHGAP31 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ARHGAP31 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 1
  • aos1
adams-oliver syndrome
  • aos
oliver syndrome
  • postaxial polydactyly and mental retardation
epileptic encephalopathy, childhood-onset
  • eeoc
aortic valve disease 1
  • aovd1
- elite association - COSMIC cancer census association via MalaCards

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 mutations affecting the gene represented in this entry.

Additional Disease Information for ARHGAP31

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARHGAP31: view

No data available for Genatlas for ARHGAP31 Gene

Publications for ARHGAP31 Gene

  1. 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 23 54
  2. 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 54
  3. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois PC … van Heel DA (Nature genetics 2010) 3 41 54
  4. 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 54
  5. 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 54

Products for ARHGAP31 Gene

Sources for ARHGAP31 Gene