Details for: IQSEC2

Gene ID: 23096

Symbol: IQSEC2

Ensembl ID: ENSG00000124313

Description: IQ motif and Sec7 domain ArfGEF 2

Associated with

  • Actin cytoskeleton organization
    (GO:0030036)
  • Cytoplasm
    (GO:0005737)
  • Guanyl-nucleotide exchange factor activity
    (GO:0005085)
  • Modulation of chemical synaptic transmission
    (GO:0050804)
  • Positive regulation of long-term synaptic depression
    (GO:1900454)
  • Positive regulation of synaptic transmission, glutamatergic
    (GO:0051968)
  • Regulation of arf protein signal transduction
    (GO:0032012)
  • Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
    (GO:0098696)
  • Schaffer collateral - ca1 synapse
    (GO:0098685)

Other Information

Genular Protein ID: 2083355475

Symbol: IQEC2_HUMAN

Name: IQ motif and SEC7 domain-containing protein 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26793055

Title: Novel missense mutation A789V in IQSEC2 underlies X-linked intellectual disability in the MRX78 family.

PubMed ID: 26793055

DOI: 10.3389/fnmol.2015.00085

PubMed ID: 20473311

Title: Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.

PubMed ID: 20473311

DOI: 10.1038/ng.588

Sequence Information:

  • Length: 1488
  • Mass: 162784
  • Checksum: 52F8B7BE28A175F3
  • Sequence:
  • MEAGSGPPGG PGSESPNRAV EYLLELNNII ESQQQLLETQ RRRIEELEGQ LDQLTQENRD 
    LREESQLHRG ELHRDPHGAR DSPGRESQYQ NLRETQFHHR ELRESQFHQA ARDVGYPNRE 
    GAYQNREAVY RDKERDASYP LQDTTGYTAR ERDVAQCHLH HENPALGRER GGREAGPAHP 
    GREKEAGYSA AVGVGPRPPR ERGQLSRGAS RSSSPGAGGG HSTSTSTSPA TTLQRKSDGE 
    NSRTVSVEGD APGSDLSTAV DSPGSQPPYR LSQLPPSSSH MGGPPAGVGL PWAQRARLQP 
    ASVALRKQEE EEIKRSKALS DSYELSTDLQ DKKVEMLERK YGGSFLSRRA ARTIQTAFRQ 
    YRMNKNFERL RSSASESRMS RRIILSNMRM QFSFEEYEKA QNPAYFEGKP ASLDEGAMAG 
    ARSHRLERGL PYGGSCGGGI DGGGSSVTTS GEFSNDITEL EDSFSKQVKS LAESIDEALN 
    CHPSGPMSEE PGSAQLEKRE SKEQQEDSSA TSFSDLPLYL DDTVPQQSPE RLPSTEPPPQ 
    GRPEFWAPAP LPPVPPPVPS GTREDGSREE GTRRGPGCLE CRDFRLRAAH LPLLTIEPPS 
    DSSVDLSDRS DRGSVHRQLV YEADGCSPHG TLKHKGPPGR APIPHRHYPA PEGPAPAPPG 
    PLPPAPNSGT GPSGVAGGRR LGKCEAAGEN SDGGDNESLE SSSNSNETIN CSSGSSSRDS 
    LREPPATGLC KQTYQRETRH SWDSPAFNND VVQRRHYRIG LNLFNKKPEK GIQYLIERGF 
    LSDTPVGVAH FILERKGLSR QMIGEFLGNR QKQFNRDVLD CVVDEMDFSS MDLDDALRKF 
    QSHIRVQGEA QKVERLIEAF SQRYCVCNPA LVRQFRNPDT IFILAFAIIL LNTDMYSPSV 
    KAERKMKLDD FIKNLRGVDN GEDIPRDLLV GIYQRIQGRE LRTNDDHVSQ VQAVERMIVG 
    KKPVLSLPHR RLVCCCQLYE VPDPNRPQRL GLHQREVFLF NDLLVVTKIF QKKKILVTYS 
    FRQSFPLVEM HMQLFQNSYY QFGIKLLSAV PGGERKVLII FNAPSLQDRL RFTSDLRESI 
    AEVQEMEKYR VESELEKQKG MMRPNASQPG GAKDSVNGTM ARSSLEDTYG AGDGLKRGAL 
    SSSLRDLSDA GKRGRRNSVG SLDSTIEGSV ISSPRPHQRM PPPPPPPPPE EYKSQRPVSN 
    SSSFLGSLFG SKRGKGPFQM PPPPTGQASA SSSSASSTHH HHHHHHHGHS HGGLGVLPDG 
    QSKLQALHAQ YCQGPGPAPP PYLPPQQPSL PPPPQQPPPL PQLGSIPPPP ASAPPVGPHR 
    HFHAHGPVPG PQHYTLGRPG RAPRRGAGGH PQFAPHGRHP LHQPTSPLPL YSPAPQHPPA 
    HKQGPKHFIF SHHPQMMPAA GAAGGPGSRP PGGSYSHPHH PQSPLSPHSP IPPHPSYPPL 
    PPPSPHTPHS PLPPTSPHGP LHASGPPGTA NPPSANPKAK PSRISTVV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.