Gene Gene information from NCBI Gene database.
Entrez ID 23527
Gene name ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
Gene symbol ACAP2
Synonyms (NCBI Gene)
CENTB2CNT-B2
Chromosome 3
Chromosome location 3q29
miRNA miRNA information provided by mirtarbase database.
1047
miRTarBase ID miRNA Experiments Reference
MIRT043930 hsa-miR-378a-3p CLASH 23622248
MIRT611234 hsa-miR-8485 HITS-CLIP 23824327
MIRT611233 hsa-miR-329-3p HITS-CLIP 23824327
MIRT611232 hsa-miR-362-3p HITS-CLIP 23824327
MIRT611231 hsa-miR-1228-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IDA 11062263
GO:0005096 Function GTPase activator activity IDA 11062263
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 30905672, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607766 16469 ENSG00000114331
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15057
Protein name Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 (Centaurin-beta-2) (Cnt-b2)
Protein function GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6). Doesn't show GAP activity for RAB35 (PubMed:30905672).
PDB 6IF3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 5 238 Domain
PF00169 PH 267 361 PH domain Domain
PF01412 ArfGap 399 516 Putative GTPase activating protein for Arf Domain
PF12796 Ank_2 610 704 Ankyrin repeats (3 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest level in lung. {ECO:0000269|PubMed:11062263}.
Sequence
Sequence length 778
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
BONE FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME 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
Colon Carcinoma Colon Carcinoma BEFREE 30212824
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 34139744 Associate
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma BEFREE 25853217
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of esophagus Esophagus Neoplasm BEFREE 25853217
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 25853217
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 30212824
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Myocardial infarction Pubtator 34139744 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 32701958 Associate
★☆☆☆☆
Found in Text Mining only