Gene Gene information from NCBI Gene database.
Entrez ID 10152
Gene name Abl interactor 2
Gene symbol ABI2
Synonyms (NCBI Gene)
ABI-2ABI2BAIP-1AIP1AblBP3SSH3BP2argBP1argBPIAargBPIB
Chromosome 2
Chromosome location 2q33.2
miRNA miRNA information provided by mirtarbase database.
1509
miRTarBase ID miRNA Experiments Reference
MIRT016520 hsa-miR-193b-3p Microarray 20304954
MIRT019245 hsa-miR-331-3p Sequencing 20371350
MIRT019960 hsa-miR-375 Microarray 20215506
MIRT050912 hsa-miR-17-5p CLASH 23622248
MIRT047875 hsa-miR-30c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0000423 Process Mitophagy IDA 38081847
GO:0001764 Process Neuron migration IBA
GO:0005515 Function Protein binding IPI 16189514, 17101133, 19523119, 21516116, 24439377, 25416956, 25910212, 26871637, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IEA
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
606442 24011 ENSG00000138443
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NYB9
Protein name Abl interactor 2 (Abelson interactor 2) (Abi-2) (Abl-binding protein 3) (AblBP3) (Arg-binding protein 1) (ArgBP1)
Protein function Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as a regulato
PDB 2ED0 , 3P8C , 4N78 , 7USC , 7USD , 7USE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07815 Abi_HHR 93 169 Abl-interactor HHR Family
PF00018 SH3_1 457 502 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Abundant in testes, ovary, thymus, and colon, with lower but detectable levels in prostate, peripheral blood leukocytes, and spleen. {ECO:0000269|PubMed:7590236}.
Sequence
MAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLAS
VAYLINTLANNVLQMLDIQASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSR
THKIIAPANLERPVRYIRKPIDYTILDDIGHGVKWLLRFKVSTQNMKMG
GLPRTTPPTQK
PPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRT
YSSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSAS
APAPLVPATVPSSTAPNAAAGGAPNLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRH
TPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPVSDTPPPPPPVEEPVFDESPPPP
PPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVVAIYDYTKDKEDELSFQEGAIIYV
IKKNDDGWYEGVMNGVTGLFPG
NYVESIMHYSE
Sequence length 513
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Regulation of actin cytoskeleton   Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ABI2-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION 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
Amyloidosis Amyloidosis BEFREE 27714968
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 21700930, 25732743, 29731721, 30471213, 31619063
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 17903303 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25732743, 29731721
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26139244
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22046421
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32496656 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 25732743
★☆☆☆☆
Found in Text Mining only
Carotid Intimal Medial Thickness 1 Carotid intima-media thickness Pubtator 17903303 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 28348580
★☆☆☆☆
Found in Text Mining only