BAIAP2
entrez
10458
canonical
uniprot
Q9UQB8
canonical
ensembl
ENSG00000175866
resolver
ensp
ENSP00000315685
resolver
ensp
ENSP00000316338
resolver
ensp
ENSP00000401022
resolver
ensp
ENSP00000413069
resolver
ensp
ENSP00000458964
resolver
ensp
ENSP00000461144
resolver
ensp
ENSP00000562817
resolver
ensp
ENSP00000562818
resolver
ensp
ENSP00000647047
resolver
ensp
ENSP00000647048
resolver
ensp
ENSP00000647049
resolver
ensp
ENSP00000647053
resolver
ensp
ENSP00000647056
resolver
ensp
ENSP00000647058
resolver
ensp
ENSP00000647059
resolver
ensp
ENSP00000725520
resolver
ensp
ENSP00000790420
resolver
enst
ENST00000575245
resolver
genesymbol
BAIAP2
resolver
hgnc
HGNC:947
resolver
uniprot
I3L4C2
resolver
uniprot
O43858
resolver
uniprot
Q53HB1
resolver
uniprot
Q86WC1
resolver
uniprot
Q8N5C0
resolver
uniprot
Q96CR7
resolver
uniprot
Q9UBR3
resolver
uniprot
Q9UQ43
resolver
uniprot_entry
BAIP2_HUMAN
resolver
uniprot_entry
I3L4C2_HUMAN
resolver
uniprot_sec
O43858
resolver
uniprot_sec
Q53HB1
resolver
uniprot_sec
Q86WC1
resolver
uniprot_sec
Q8N5C0
resolver
uniprot_sec
Q96CR7
resolver
uniprot_sec
Q9UBR3
resolver
uniprot_sec
Q9UQ43
resolver
amino_acid_sequence
MSLSRSEEMHRLTENVYKTIMEQFNPSLRNFIAMGKNYEKALAGVTYAAKGYFDALVKMGELASESQGSKELGDVLFQMAEVHRQIQNQLEEMLKSFHNELLTQLEQKVELDSRYLSAALKKYQTEQRSKGDALDKCQAELKKLRKKSQGSKNPQKYSDKELQYIDAISNKQGELENYVSDGYKTALTEERRRFCFLVEKQCAVAKNSAAYHSKGKELLAQKLPLWQQACADPSKIPERAVQLMQQVASNGATLPSALSASKSNLVISDPIPGAKPLPVPPELAPFVGRMSAQESTPIMNGVTGPDGEDYSPWADRKAAQPKSLSPPQSQSKLSDSYSNTLPVRKSVTPKNSYATTENKTLPRSSSMAAGLERNGRMRVKAIFSHAAGDNSTLLSFKEGDLITLLVPEARDGWHYGESEKTKMRGWFPFSYTRVLDSDGSDRLHMSLQQGKSSSTGNLLDKDDLAIPPPDYGAASRAFPAQTASGFKQRPYSVAVPAFSQGLDDYGARSMSRNPFAHVQLKPTVTNDRCDLSAQGPEGREHGDGSARTLAGR
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 120 (DEE120) [MIM:621468]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE120 is an autosomal dominant form characterized by severe infantile epilepsy, developmental delay, and intellectual disability. {ECO:0000269|PubMed:38149472, ECO:0000269|PubMed:41133935}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein that links membrane-bound small G proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth, neuronal differentiation and neuronal migration (PubMed:41133935). Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions (PubMed:41133935). {ECO:0000269|PubMed:11130076, ECO:0000269|PubMed:11696321, ECO:0000269|PubMed:14752106, ECO:0000269|PubMed:17115031, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:41133935}.
uniprot
proteins
mass_dalton
60868
uniprot
proteins
mutagenesis
MUTAGEN 142; /note="K->E: Abolishes actin-bundling and filopodia formation; when associated with E-143; E-146 and E147."; /evidence="ECO:0000269|PubMed:15635447"; MUTAGEN 143; /note="K->E: Abolishes actin-bundling and filopodia formation; when associated with E-142; E-146 and E147."; /evidence="ECO:0000269|PubMed:15635447"; MUTAGEN 146; /note="K->E: Abolishes actin-bundling and filopodia formation; when associated with E-142; E-143 and E147."; /evidence="ECO:0000269|PubMed:15635447"; MUTAGEN 147; /note="K->E: Abolishes actin-bundling and filopodia formation; when associated with E-142; E-143 and E146."; /evidence="ECO:0000269|PubMed:15635447"; MUTAGEN 267; /note="I->N: Loss of interaction with CDC42. Loss of stimulation of neurite growth."; /evidence="ECO:0000269|PubMed:11157984"; MUTAGEN 413; /note="W->G: Impairs the SH3 domain and abolishes the interaction with EPS8."; /evidence="ECO:0000269|PubMed:17115031"; MUTAGEN 427; /note="F->A: Loss of interaction with ENAH and no induction of filopodia; when associated with A-428."; /evidence="ECO:0000269|PubMed:11696321"; MUTAGEN 428; /note="P->A: Loss of interaction with ENAH and no induction of filopodia; when associated with A-427."; /evidence="ECO:0000269|PubMed:11696321
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues by INSR in response to insulin treatment. {ECO:0000269|PubMed:10332026}.
uniprot
proteins
pubmed
10332026
uniprot
proteins
pubmed
10343108
uniprot
proteins
pubmed
11130076
uniprot
proteins
pubmed
11157984
uniprot
proteins
pubmed
11696321
uniprot
proteins
pubmed
12504591
uniprot
proteins
pubmed
12884081
uniprot
proteins
pubmed
14752106
uniprot
proteins
pubmed
15289329
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15635447
uniprot
proteins
pubmed
17115031
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19286134
uniprot
proteins
pubmed
19366662
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
38149472
uniprot
proteins
pubmed
41133935
uniprot
proteins
sequence_length
552
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein {ECO:0000269|PubMed:38149472}. Cell projection, filopodium. Cell projection, ruffle. Cytoplasm, cytoskeleton. Note=Detected throughout the cytoplasm in the absence of specific binding partners. Detected in filopodia and close to membrane ruffles. Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites.
uniprot
proteins