KEGG   Homo sapiens (human): 23096
Entry
23096             CDS       T01001                                 
Symbol
IQSEC2, BRAG1, IQ-ArfGEF, MRX1, MRX18, MRX78, XLID1
Name
(RefSeq) IQ motif and Sec7 domain ArfGEF 2
  KO
K12495  IQ motif and SEC7 domain-containing protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
Disease
H00480  X-linked intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    23096 (IQSEC2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23096 (IQSEC2)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Arf GTPases and associated proteins
   Arf associated proteins
    23096 (IQSEC2)
SSDB
Motif
Pfam: Sec7 IQ_SEC7_PH PH_19 SlyX TNT
Other DBs
NCBI-GeneID: 23096
NCBI-ProteinID: NP_001104595
OMIM: 300522
HGNC: 29059
Ensembl: ENSG00000124313
UniProt: Q5JU85
Structure
Position
X:complement(53225813..53321350)
AA seq 1488 aa
MEAGSGPPGGPGSESPNRAVEYLLELNNIIESQQQLLETQRRRIEELEGQLDQLTQENRD
LREESQLHRGELHRDPHGARDSPGRESQYQNLRETQFHHRELRESQFHQAARDVGYPNRE
GAYQNREAVYRDKERDASYPLQDTTGYTARERDVAQCHLHHENPALGRERGGREAGPAHP
GREKEAGYSAAVGVGPRPPRERGQLSRGASRSSSPGAGGGHSTSTSTSPATTLQRKSDGE
NSRTVSVEGDAPGSDLSTAVDSPGSQPPYRLSQLPPSSSHMGGPPAGVGLPWAQRARLQP
ASVALRKQEEEEIKRSKALSDSYELSTDLQDKKVEMLERKYGGSFLSRRAARTIQTAFRQ
YRMNKNFERLRSSASESRMSRRIILSNMRMQFSFEEYEKAQNPAYFEGKPASLDEGAMAG
ARSHRLERGLPYGGSCGGGIDGGGSSVTTSGEFSNDITELEDSFSKQVKSLAESIDEALN
CHPSGPMSEEPGSAQLEKRESKEQQEDSSATSFSDLPLYLDDTVPQQSPERLPSTEPPPQ
GRPEFWAPAPLPPVPPPVPSGTREDGSREEGTRRGPGCLECRDFRLRAAHLPLLTIEPPS
DSSVDLSDRSDRGSVHRQLVYEADGCSPHGTLKHKGPPGRAPIPHRHYPAPEGPAPAPPG
PLPPAPNSGTGPSGVAGGRRLGKCEAAGENSDGGDNESLESSSNSNETINCSSGSSSRDS
LREPPATGLCKQTYQRETRHSWDSPAFNNDVVQRRHYRIGLNLFNKKPEKGIQYLIERGF
LSDTPVGVAHFILERKGLSRQMIGEFLGNRQKQFNRDVLDCVVDEMDFSSMDLDDALRKF
QSHIRVQGEAQKVERLIEAFSQRYCVCNPALVRQFRNPDTIFILAFAIILLNTDMYSPSV
KAERKMKLDDFIKNLRGVDNGEDIPRDLLVGIYQRIQGRELRTNDDHVSQVQAVERMIVG
KKPVLSLPHRRLVCCCQLYEVPDPNRPQRLGLHQREVFLFNDLLVVTKIFQKKKILVTYS
FRQSFPLVEMHMQLFQNSYYQFGIKLLSAVPGGERKVLIIFNAPSLQDRLRFTSDLRESI
AEVQEMEKYRVESELEKQKGMMRPNASQPGGAKDSVNGTMARSSLEDTYGAGDGLKRGAL
SSSLRDLSDAGKRGRRNSVGSLDSTIEGSVISSPRPHQRMPPPPPPPPPEEYKSQRPVSN
SSSFLGSLFGSKRGKGPFQMPPPPTGQASASSSSASSTHHHHHHHHHGHSHGGLGVLPDG
QSKLQALHAQYCQGPGPAPPPYLPPQQPSLPPPPQQPPPLPQLGSIPPPPASAPPVGPHR
HFHAHGPVPGPQHYTLGRPGRAPRRGAGGHPQFAPHGRHPLHQPTSPLPLYSPAPQHPPA
HKQGPKHFIFSHHPQMMPAAGAAGGPGSRPPGGSYSHPHHPQSPLSPHSPIPPHPSYPPL
PPPSPHTPHSPLPPTSPHGPLHASGPPGTANPPSANPKAKPSRISTVV
NT seq 4467 nt   +upstreamnt  +downstreamnt
atggaggcggggtcggggcccccgggcggcccgggatccgagagcccaaatcgggccgtg
gagtacctgctggagctgaacaacatcatcgagagccagcagcagctgctggaaacccag
cggcggcgcatcgaggagctggagggccagctggaccagctcacccaggagaaccgcgac
ctgcgagaggagagccagctgcaccgcggggagctgcaccgggacccccacggcgcgcgg
gatagcccgggccgcgagagccagtaccagaacctgcgcgagacccagttccaccaccgc
gagctgcgggagagccagttccaccaggcggcccgggacgtgggctacccgaaccgggaa
ggcgcctaccagaatcgggaggctgtgtatcgggacaaggagcgggacgcctcctacccg
ctccaggacactaccggttacacagcccgcgagcgtgacgtggcccagtgccacctgcac
cacgagaacccagccctgggtcgcgagcgtggcgggcgggaggccgggccggcgcacccg
ggccgcgagaaggaagcgggctattcggcggcggtgggcgtggggccgcggccaccgcgg
gagcggggccagctgagccgtggcgcatccaggagctccagtcccggcgccggcggaggc
cacagcaccagtaccagcaccagcccggccacgaccctccagagaaaatctgatggtgag
aattccagaacagtcagtgtggagggtgatgccccaggcagtgacctgagcacagcggtt
gatagtcctgggagccaacccccctaccggctgagccagctgcccccctccagcagccac
atggggggcccccctgctggagtgggccttccctgggctcagcgggcacgcctccagcca
gccagtgtcgccctgaggaagcaggaggaggaggagataaagcgctccaaggccctatcg
gacagctatgaactctccacagacctgcaggacaagaaggtggaaatgctggagaggaag
tatgggggctccttcctgagccgcagggctgccaggaccatccagacagccttccgccag
taccgcatgaacaagaactttgagcggctacgcagctcagcctcagagagccgcatgtcc
cgccgcatcatcctttccaacatgcggatgcagttctcctttgaggagtatgagaaggca
cagaaccccgcgtacttcgagggcaagcctgcctcgctggacgagggtgccatggctggt
gcccggagccaccggcttgaacgggggctcccatatggaggctcctgtggtgggggcatc
gatggtggtggaagctccgtcaccacatctggagagttttctaatgacatcacagaactt
gaggactccttctccaaacaggtaaagtctctggctgaatccatcgacgaagccctgaac
tgccacccgtcagggcccatgtctgaggagccagggtcagcccagctggagaagcgggag
tcaaaggaacagcaagaggacagctcagccacatccttcagtgatcttcccctctacctg
gatgacacagttccccaacaatcccctgagcgactgcccagcacagaacccccaccccag
ggccggcccgagttctgggcgccagcccctctcccgccagttcctccaccagtgccatca
ggaacccgggaagacggtagccgtgaggaaggcactcgcaggggtcccgggtgcttggag
tgccgggatttccggctgcgggctgcccaccttcccctgcttaccattgagcctcctagt
gacagctccgtggacctgagtgaccgctcagatcgcggctctgtccaccgccagctggtg
tatgaggctgatggctgcagcccccatgggaccctgaagcacaaggggccaccaggcagg
gccccgatcccacaccgccactacccagcccctgaaggcccagccccagccccaccaggg
cccctgccaccagcccccaacagtggcactgggcccagtggtgtggctgggggtcggagg
ttggggaagtgcgaggcagcaggcgagaactctgatggtggagataacgagagccttgag
agctccagcaattccaatgagaccatcaactgcagctccggctcctcttctcgggacagt
ctaagggagcctccggctaccggcctgtgcaagcagacttaccagcgggagacaaggcat
agctgggactcgccagctttcaacaatgatgtggtccagaggcggcactaccgaatcggc
ctcaacctcttcaacaagaagccagagaagggtatccagtatctgatcgagcggggcttc
ctgtcagacacaccggtgggagtggctcacttcatcctggagcggaaaggcctcagccgg
cagatgataggggaattcctagggaaccggcagaagcagttcaacagagacgtgttggac
tgtgtggtggatgagatggacttctcctccatggatctggatgatgcgctccggaagttc
cagtcccatatccgggttcagggtgaggcccagaaagtggagcgactcatcgaagccttc
agccagcggtactgtgtctgtaacccagccctcgtgcgccagttccggaacccagacacc
atcttcatccttgcttttgccatcatcctcctcaataccgacatgtacagtcccagcgtc
aaagctgaacgaaagatgaaactagatgacttcatcaagaacctgagaggggttgacaat
ggtgaagacatcccccgagacctcctggtgggcatctaccagcgcatccaggggcgtgaa
ctgcggaccaacgatgaccatgtgtcccaggtgcaggctgtggagcgcatgattgttgga
aagaaaccagtcctgtctctccctcaccgtcgactggtttgctgctgccagctctacgag
gtgccagatccaaaccgcccccagaggctagggttgcatcagcgggaggtcttcctcttc
aatgatctccttgtggtcaccaaaattttccagaagaagaagatcttggtgacgtacagt
ttccgtcagtctttccccctcgtggaaatgcacatgcagctcttccagaattcatattac
cagtttgggatcaagttgctgtctgcagtacctggtggggagcgaaaagtcctcatcatc
ttcaatgcccccagcctccaggaccggctgcgctttacatccgacctgcgcgagtccatt
gcggaggtgcaggagatggagaaataccgtgtggagtcggagctggagaagcagaaaggt
atgatgcggcctaacgcctcacagcctggaggggccaaggactcagtgaatgggacgatg
gcccgcagtagcctggaggacacttacggggcaggcgatgggctcaaacggggcgcactc
agcagttccctgcgagacctctctgatgcagggaagcgggggcggcgtaacagcgtggga
tcgctggacagcaccatcgaagggtctgttattagcagtccacgccctcaccagaggatg
ccacctccgcccccacccccgccgccagaggagtacaagagccagaggcccgtctccaac
tcctcatccttcctgggctccctatttggaagcaagcggggcaaggggcccttccagatg
ccaccaccgccaacaggccaggcctctgcctcctcttcatctgcttcttccacgcaccac
caccaccaccaccaccatcatggccatagccacggtggcctgggggtgctgcctgatggg
cagtccaagctccaggccctgcatgcccagtattgccaaggaccgggccctgccccgcca
ccctacctcccaccccagcagccctctcttcccccacctccccagcagcccccacccttg
ccccagctgggctccattccaccgcctcccgcctcagccccacctgtggggccacatcgc
cacttccacgcccatggcccagtcccagggccccaacactataccttgggccggccaggc
agggcacccagacggggggctggaggacaccctcagtttgctccacatggccgccacccc
ctgcaccagcccacatccccactgcccctgtacagtcctgccccccagcaccctccagcc
cacaaacagggccctaagcacttcatcttcagccaccacccacagatgatgccagcagca
ggcgcggctgggggccctggatcccggccaccagggggctcctactcccacccccaccac
ccccagtcaccattgtcaccacactcacccatcccaccccacccctcctatccacccctc
cccccaccctcccctcacaccccgcactcaccccttccacccacctccccccatggcccg
ctgcacgcctctgggccccctggcacagccaacccccccagtgcaaaccccaaggccaag
ccaagccggatcagcaccgtggtctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (63)   
   KEGG ORTHOLOGY (1)   
   RefGene (57)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (38)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (36)   
DNA sequence (60)   
   RefSeq(nuc) (38)   
   GenBank (11)   
   EMBL (11)   
3D Structure (1)   
   PDB (1)   
Protein domain (5)   
   Pfam (5)   
All databases (174)   

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