Gene Gene information from NCBI Gene database.
Entrez ID 23779
Gene name Rho GTPase activating protein 8
Gene symbol ARHGAP8
Synonyms (NCBI Gene)
BPGAP1PP610
Chromosome 22
Chromosome location 22q13.31
Summary This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GD
miRNA miRNA information provided by mirtarbase database.
76
miRTarBase ID miRNA Experiments Reference
MIRT795026 hsa-let-7a CLIP-seq
MIRT795027 hsa-let-7b CLIP-seq
MIRT795028 hsa-let-7c CLIP-seq
MIRT795029 hsa-let-7d CLIP-seq
MIRT795030 hsa-let-7e CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 20179103
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS
GO:0005515 Function Protein binding IPI 20179103, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609405 677 ENSG00000241484
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P85298
Protein name Rho GTPase-activating protein 8 (Rho-type GTPase-activating protein 8)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13716 CRAL_TRIO_2 32 197 Divergent CRAL/TRIO domain Domain
PF00620 RhoGAP 241 391 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney and placenta. Also expressed in colon, skeletal muscle, small intestine, stomach, and testis. Not detected in brain, liver or spleen. Overexpressed in the majority of colorectal tumors examined. {ECO:0000269|
Sequence
Sequence length 464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BINGE EATING GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder GWASCAT_DG 24882193, 29391396
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar disorder Pubtator 24882193, 29391396 Associate
★☆☆☆☆
Found in Text Mining only
Bulimia Bulimia GWASCAT_DG 24882193, 29391396
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 15225876
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms BEFREE 15225876
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms LHGDN 15225876
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 27777418
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer BEFREE 15225876
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Uterine neoplasm Pubtator 18217980 Associate
★☆☆☆☆
Found in Text Mining only