IQSEC2
entrez
23096
canonical
uniprot
Q5JU85
canonical
ensembl
ENSG00000124313
resolver
ensp
ENSP00000364514
resolver
ensp
ENSP00000491796
resolver
ensp
ENSP00000492403
resolver
ensp
ENSP00000495726
resolver
enst
ENST00000640694
resolver
genesymbol
IQSEC2
resolver
genesymbol_syn
KIAA0522
resolver
hgnc
HGNC:29059
resolver
uniprot
A0A1W2PQN3
resolver
uniprot
A0A1W2PR28
resolver
uniprot
B3KT97
resolver
uniprot
C7SDG1
resolver
uniprot
O60275
resolver
uniprot
Q5JUX1
resolver
uniprot_entry
A0A1W2PR28_HUMAN
resolver
uniprot_entry
IQEC2_HUMAN
resolver
uniprot_sec
A0A1W2PQN3
resolver
uniprot_sec
B3KT97
resolver
uniprot_sec
C7SDG1
resolver
uniprot_sec
O60275
resolver
uniprot_sec
Q5JUX1
resolver
activity_regulation
ACTIVITY REGULATION: Under resting conditions, it is inactive due to interaction with calmodulin (CALM1) that blocks the ARFs binding site. Allosterically activated by Ca(2+) ions that bind to CALM1, trigger its dissociation from IQSEC2, and induce IQSEC2 active state. {ECO:0000269|PubMed:37787765}.
uniprot
proteins
amino_acid_sequence
MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRDLREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHRELRESQFHQAARDVGYPNREGAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHPGREKEAGYSAAVGVGPRPPRERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGENSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQPASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQYRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAGARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALNCHPSGPMSEEPGSAQLEKRESKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQGRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPSDSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPGPLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLESSSNSNETINCSSGSSSRDSLREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGFLSDTPVGVAHFILERKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKFQSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSVKAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVGKKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLFNDLLVVTKIFQKKKILVTYSFRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESIAEVQEMEKYRVESELEKQKGMMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGALSSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSNSSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDGQSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPLPQLGSIPPPPASAPPVGPHRHFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPAHKQGPKHFIFSHHPQMMPAAGAAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPLPPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:20473311, ECO:0000269|PubMed:26793055}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder, X-linked, with poor or absent speech and behavioral abnormalities (NEDXSB) [MIM:301164]: A disorder characterized by global developmental delay, hypotonia, delayed walking or inability to walk, poor or absent speech, and severe to profoundly impaired intellectual development. Additional variable features are behavioral abnormalities, including autistic features, and early-onset epilepsy. {ECO:0000269|PubMed:23674175, ECO:0000269|PubMed:28815955, ECO:0000269|PubMed:29026562, ECO:0000269|PubMed:30206421, ECO:0000269|PubMed:30666632, ECO:0000269|PubMed:31415821, ECO:0000269|PubMed:38200111}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Is a guanine nucleotide exchange factor (GEF) for small GTPases of the ARF family, promoting activation of specific ARFs through exchange of GDP for GTP (PubMed:26793055, PubMed:37787765). In vitro, it has GEF activity towards ARF1 and ARF6 (PubMed:30842726, PubMed:37787765, PubMed:38200111). Is involved in the regulation of synaptic transmission and plasticity, controlling trafficking and removal of AMPA receptors GRIA2/GLUA2 and GRIA3/GLUA3 at synapses (PubMed:27009485, PubMed:30842726). Additionally, it may regulate the assembly of the post-synaptic density in a Ca(2+)-dependent manner, operating independently of its GEF activity (PubMed:41123449). {ECO:0000269|PubMed:26793055, ECO:0000269|PubMed:27009485, ECO:0000269|PubMed:30842726, ECO:0000269|PubMed:37787765, ECO:0000269|PubMed:38200111, ECO:0000269|PubMed:41123449}.
uniprot
proteins
mass_dalton
162784
uniprot
proteins
mutagenesis
MUTAGEN 350; /note="A->D: Severely decreased interaction with CALM1 resulting in altered allosteric regulation by calcium."; /evidence="ECO:0000269|PubMed:37787765"; MUTAGEN 367; /note="F->A: 30-fold decreased interaction with CALM1 resulting in constitutive activation uncoupled from allosteric regulation by calcium. Increased guanine nucleotide exchange factor activity."; /evidence="ECO:0000269|PubMed:41123449"; MUTAGEN 849; /note="E->K: Loss of guanine nucleotide exchange factor activity. Results in increased AMPAR-mediated excitatory synaptic transmission."; /evidence="ECO:0000269|PubMed:20473311, ECO:0000269|PubMed:27009485
uniprot
proteins
protein_family
BRAG family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
20473311
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23674175
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26793055
uniprot
proteins
pubmed
27009485
uniprot
proteins
pubmed
28815955
uniprot
proteins
pubmed
29026562
uniprot
proteins
pubmed
30206421
uniprot
proteins
pubmed
30279470
uniprot
proteins
pubmed
30666632
uniprot
proteins
pubmed
30842726
uniprot
proteins
pubmed
31415821
uniprot
proteins
pubmed
37787765
uniprot
proteins
pubmed
38200111
uniprot
proteins
pubmed
41123449
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
1488
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q5DU25}. Postsynaptic density {ECO:0000269|PubMed:38200111}.
uniprot
proteins