ABI2
entrez
10152
canonical
uniprot
Q9NYB9
canonical
ensembl
ENSG00000138443
resolver
ensp
ENSP00000261017
resolver
ensp
ENSP00000261018
resolver
ensp
ENSP00000295851
resolver
ensp
ENSP00000391433
resolver
ensp
ENSP00000408898
resolver
ensp
ENSP00000550640
resolver
ensp
ENSP00000550641
resolver
ensp
ENSP00000550642
resolver
ensp
ENSP00000550643
resolver
ensp
ENSP00000550644
resolver
ensp
ENSP00000550645
resolver
ensp
ENSP00000550647
resolver
ensp
ENSP00000550648
resolver
ensp
ENSP00000550650
resolver
ensp
ENSP00000550651
resolver
ensp
ENSP00000550652
resolver
ensp
ENSP00000550653
resolver
ensp
ENSP00000550654
resolver
ensp
ENSP00000550655
resolver
ensp
ENSP00000550657
resolver
ensp
ENSP00000550658
resolver
ensp
ENSP00000550659
resolver
ensp
ENSP00000588219
resolver
ensp
ENSP00000588222
resolver
ensp
ENSP00000588225
resolver
ensp
ENSP00000588226
resolver
ensp
ENSP00000588229
resolver
ensp
ENSP00000625931
resolver
ensp
ENSP00000625932
resolver
ensp
ENSP00000625933
resolver
ensp
ENSP00000625934
resolver
ensp
ENSP00000625935
resolver
ensp
ENSP00000625936
resolver
ensp
ENSP00000625938
resolver
ensp
ENSP00000625939
resolver
ensp
ENSP00000625940
resolver
ensp
ENSP00000625943
resolver
ensp
ENSP00000625944
resolver
ensp
ENSP00000625945
resolver
ensp
ENSP00000625946
resolver
ensp
ENSP00000625947
resolver
enst
ENST00000261018
resolver
enst
ENST00000295851
resolver
enst
ENST00000424558
resolver
enst
ENST00000430418
resolver
genesymbol
ABI2
resolver
genesymbol_syn
ARGBPIA
resolver
hgnc
HGNC:24011
resolver
uniprot
A0A0C4DG21
resolver
uniprot
A0A7D9NKC8
resolver
uniprot
B4DSN1
resolver
uniprot
B7Z836
resolver
uniprot
E9PEZ7
resolver
uniprot
F8WAL6
resolver
uniprot
J3KNB2
resolver
uniprot
Q13147
resolver
uniprot
Q13249
resolver
uniprot
Q13801
resolver
uniprot
Q9BV70
resolver
uniprot_entry
A0A0C4DG21_HUMAN
resolver
uniprot_entry
A0A7D9NKC8_HUMAN
resolver
uniprot_entry
ABI2_HUMAN
resolver
uniprot_entry
B7Z836_HUMAN
resolver
uniprot_entry
E9PEZ7_HUMAN
resolver
uniprot_entry
F8WAL6_HUMAN
resolver
uniprot_sec
B4DSN1
resolver
uniprot_sec
J3KNB2
resolver
uniprot_sec
Q13147
resolver
uniprot_sec
Q13249
resolver
uniprot_sec
Q13801
resolver
uniprot_sec
Q9BV70
resolver
amino_acid_sequence
MAELQMLLEEEIPGGRRALFDSYTNLERVADYCENNYIQSADKQRALEETKAYTTQSLASVAYLINTLANNVLQMLDIQASQLRRMESSINHISQTVDIHKEKVARREIGILTTNKNTSRTHKIIAPANLERPVRYIRKPIDYTILDDIGHGVKWLLRFKVSTQNMKMGGLPRTTPPTQKPPSPPMSGKGTLGRHSPYRTLEPVRPPVVPNDYVPSPTRNMAPSQQSPVRTASVNQRNRTYSSSGSSGGSHPSSRSSSRENSGSGSVGVPIAVPTPSPPSVFPAPAGSAGTPPLPATSASAPAPLVPATVPSSTAPNAAAGGAPNLADGFTSPTPPVVSSTPPTGHPVQFYSMNRPASRHTPPTIGGSLPYRRPPSITSQTSLQNQMNGGPFYSQNPVSDTPPPPPPVEEPVFDESPPPPPPPEDYEEEEAAVVEYSDPYAEEDPPWAPRSYLEKVVAIYDYTKDKEDELSFQEGAIIYVIKKNDDGWYEGVMNGVTGLFPGNYVESIMHYSE
uniprot
proteins
disease_involvement
DISEASE: Note=There is evidence, including phenotypic data from ABI2-knockout mice, that loss-of-function variants in ABI2 may play a role in autosomal recessive intellectual disability. {ECO:0000269|PubMed:28397838}.
uniprot
proteins
function
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 regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:10498863, PubMed:7590236, PubMed:8649853). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692). {ECO:0000250|UniProtKB:P62484, ECO:0000269|PubMed:10498863, ECO:0000269|PubMed:15572692, ECO:0000269|PubMed:21107423, ECO:0000269|PubMed:7590236, ECO:0000269|PubMed:8649853}.
uniprot
proteins
mass_dalton
55663
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by ABL1. {ECO:0000269|PubMed:7590236}.
uniprot
proteins
protein_family
ABI family
uniprot
proteins
pubmed
10498863
uniprot
proteins
pubmed
11516653
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15572692
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21107423
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25121749
uniprot
proteins
pubmed
28397838
uniprot
proteins
pubmed
7590236
uniprot
proteins
pubmed
8649853
uniprot
proteins
sequence_length
513
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11516653, ECO:0000269|PubMed:7590236, ECO:0000269|PubMed:8649853}. Nucleus {ECO:0000269|PubMed:7590236}.; SUBCELLULAR LOCATION: [Isoform 1]: Cell projection, lamellipodium {ECO:0000269|PubMed:11516653, ECO:0000269|PubMed:15572692}. Cell projection, filopodium {ECO:0000269|PubMed:11516653}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15572692}. Cell junction, adherens junction {ECO:0000269|PubMed:15572692}. Note=Isoform 1 but not isoform 3 is localized to protruding lamellipodia and filopodia tips (PubMed:11516653, PubMed:15572692). Present at nascent adherens junctions, where it clusters adjacent to the tips of F-actin protrusions (PubMed:15572692). {ECO:0000269|PubMed:11516653, ECO:0000269|PubMed:15572692}.
uniprot
proteins