MAGI2
entrez
9863
canonical
uniprot
Q86UL8
canonical
ensembl
ENSG00000187391
resolver
ensp
ENSP00000346151
resolver
ensp
ENSP00000405766
resolver
ensp
ENSP00000428389
resolver
ensp
ENSP00000486131
resolver
genesymbol
MAGI2
resolver
genesymbol_syn
ACVRINP1
resolver
genesymbol_syn
AIP1
resolver
genesymbol_syn
KIAA0705
resolver
hgnc
HGNC:18957
resolver
uniprot
A4D1C1
resolver
uniprot
A7E2C3
resolver
uniprot
B7Z4H4
resolver
uniprot
O60434
resolver
uniprot
O60510
resolver
uniprot
Q86UI7
resolver
uniprot
Q9NP44
resolver
uniprot
Q9UDQ5
resolver
uniprot
Q9UDU1
resolver
uniprot_entry
B7Z4H4_HUMAN
resolver
uniprot_entry
MAGI2_HUMAN
resolver
uniprot_sec
A4D1C1
resolver
uniprot_sec
A7E2C3
resolver
uniprot_sec
O60434
resolver
uniprot_sec
O60510
resolver
uniprot_sec
Q86UI7
resolver
uniprot_sec
Q9NP44
resolver
uniprot_sec
Q9UDQ5
resolver
uniprot_sec
Q9UDU1
resolver
amino_acid_sequence
MSKSLKKKSHWTSKVHESVIGRNPEGQLGFELKGGAENGQFPYLGEVKPGKVAYESGSKLVSEELLLEVNETPVAGLTIRDVLAVIKHCKDPLRLKCVKQGGIVDKDLRHYLNLRFQKGSVDHELQQIIRDNLYLRTVPCTTRPHKEGEVPGVDYIFITVEDFMELEKSGALLESGTYEDNYYGTPKPPAEPAPLLLNVTDQILPGATPSAEGKRKRNKSVSNMEKASIEPPEEEEEERPVVNGNGVVVTPESSEHEDKSAGASGEMPSQPYPAPVYSQPEELKEQMDDTKPTKPEDNEEPDPLPDNWEMAYTEKGEVYFIDHNTKTTSWLDPRLAKKAKPPEECKENELPYGWEKIDDPIYGTYYVDHINRRTQFENPVLEAKRKLQQHNMPHTELGTKPLQAPGFREKPLFTRDASQLKGTFLSTTLKKSNMGFGFTIIGGDEPDEFLQVKSVIPDGPAAQDGKMETGDVIVYINEVCVLGHTHADVVKLFQSVPIGQSVNLVLCRGYPLPFDPEDPANSMVPPLAIMERPPPVMVNGRHNYETYLEYISRTSQSVPDITDRPPHSLHSMPTDGQLDGTYPPPVHDDNVSMASSGATQAELMTLTIVKGAQGFGFTIADSPTGQRVKQILDIQGCPGLCEGDLIVEINQQNVQNLSHTEVVDILKDCPIGSETSLIIHRGGFFSPWKTPKPIMDRWENQGSPQTSLSAPAIPQNLPFPPALHRSSFPDSTEAFDPRKPDPYELYEKSRAIYESRQQVPPRTSFRMDSSGPDYKELDVHLRRMESGFGFRILGGDEPGQPILIGAVIAMGSADRDGRLHPGDELVYVDGIPVAGKTHRYVIDLMHHAARNGQVNLTVRRKVLCGGEPCPENGRSPGSVSTHHSSPRSDYATYTNSNHAAPSSNASPPEGFASHSLQTSDVVIHRKENEGFGFVIISSLNRPESGSTITVPHKIGRIIDGSPADRCAKLKVGDRILAVNGQSIINMPHADIVKLIKDAGLSVTLRIIPQEELNSPTSAPSSEKQSPMAQQSPLAQQSPLAQPSPATPNSPIAQPAPPQPLQLQGHENSYRSEVKARQDVKPDIRQPPFTDYRQPPLDYRQPPGGDYQQPPPLDYRQPPLLDYRQHSPDTRQYPLSDYRQPQDFDYFTVDMEKGAKGFGFSIRGGREYKMDLYVLRLAEDGPAIRNGRMRVGDQIIEINGESTRDMTHARAIELIKSGGRRVRLLLKRGTGQVPEYDEPAPWSSPAAAAPGLPEVGVSLDDGLAPFSPSHPAPPSDPSHQISPGPTWDIKREHDVRKPKELSACGQKKQRLGEQRERSASPQRAARPRLEEAPGGQGRPEAGRPASEARAPGLAAADAADAARAGGKEAPRAAAGSELCRREGPGAAPAFAGPGGGGSGALEAEGRAGARAGPRPGPRPPGGAPARKAAVAPGPWKVPGSDKLPSVLKPGASAASR
uniprot
proteins
disease_involvement
DISEASE: Nephrotic syndrome 15 (NPHS15) [MIM:617609]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure. {ECO:0000269|PubMed:27932480}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth (By similarity). May play a role in regulating activin-mediated signaling in neuronal cells (By similarity). Enhances the ability of PTEN to suppress AKT1 activation (PubMed:10760291). Plays a role in receptor-mediated clathrin-dependent endocytosis which is required for ciliogenesis (By similarity). {ECO:0000250|UniProtKB:O88382, ECO:0000250|UniProtKB:Q9WVQ1, ECO:0000269|PubMed:10760291}.
uniprot
proteins
mass_dalton
158754
uniprot
proteins
protein_family
MAGUK family
uniprot
proteins
pubmed
10760291
uniprot
proteins
pubmed
11707428
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16464232
uniprot
proteins
pubmed
23751499
uniprot
proteins
pubmed
24608321
uniprot
proteins
pubmed
27932480
uniprot
proteins
pubmed
9647693
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1455
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Late endosome {ECO:0000250}. Synapse, synaptosome {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q9WVQ1}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9WVQ1}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q9WVQ1}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q9WVQ1}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q9WVQ1}. Note=Localized diffusely in the cytoplasm before nerve growth factor (NGF) stimulation. Recruited to late endosomes after NGF stimulation. Membrane-associated in synaptosomes (By similarity). {ECO:0000250}.
uniprot
proteins