KEGG   Homo sapiens (human): 10564
Entry
10564             CDS       T01001                                 

Gene name
ARFGEF2, BIG2, PVNH2, dJ1164I10.1
Definition
(RefSeq) ADP ribosylation factor guanine nucleotide exchange factor 2
  KO
K18442  brefeldin A-inhibited guanine nucleotide-exchange protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
Disease
H00270  Periventricular nodular heterotopia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    10564 (ARFGEF2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    10564 (ARFGEF2)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Arf GTPases and associated proteins
   Arf GTPase associated proteins
    10564 (ARFGEF2)
SSDB
Motif
Pfam: Sec7 Sec7_N DCB DUF1981
Other DBs
NCBI-GeneID: 10564
NCBI-ProteinID: NP_006411
OMIM: 605371
HGNC: 15853
Ensembl: ENSG00000124198
Vega: OTTHUMG00000032687
Pharos: Q9Y6D5(Tbio)
UniProt: Q9Y6D5 Q86TH5 Q59FR3
Structure
PDB: 
3L8N 3SWV

Position
20q13.13
AA seq 1785 aa
MQESQTKSMFVSRALEKILADKEVKRPQHSQLRRACQVALDEIKAEIEKQRLGTAAPPKA
NFIEADKYFLPFELACQSKSPRVVSTSLDCLQKLIAYGHITGNAPDSGAPGKRLIDRIVE
TICSCFQGPQTDEGVQLQIIKALLTAVTSPHIEIHEGTILQTVRTCYNIYLASKNLINQT
TAKATLTQMLNVIFTRMENQVLQEARELEKPIQSKPQSPVIQAAAVSPKFVRLKHSQAQS
KPTTPEKTDLTNGEHARSDSGKVSTENGDAPRERGSSLSGTDDGAQEVVKDILEDVVTSA
IKEAAEKHGLTEPERVLGELECQECAIPPGVDENSQTNGIADDRQSLSSADNLESDAQGH
QVAARFSHVLQKDAFLVFRSLCKLSMKPLGEGPPDPKSHELRSKVVSLQLLLSVLQNAGP
VFRTHEMFINAIKQYLCVALSKNGVSSVPDVFELSLAIFLTLLSNFKMHLKMQIEVFFKE
IFLNILETSTSSFEHRWMVIQTLTRICADAQCVVDIYVNYDCDLNAANIFERLVNDLSKI
AQGRSGHELGMTPLQELSLRKKGLECLVSILKCMVEWSKDLYVNPNHQTSLGQERLTDQE
IGDGKGLDMARRCSVTSMESTVSSGTQTTVQDDPEQFEVIKQQKEIIEHGIELFNKKPKR
GIQFLQEQGMLGTSVEDIAQFLHQEERLDSTQVGDFLGDSARFNKEVMYAYVDQLDFCEK
EFVSALRTFLEGFRLPGEAQKIDRLMEKFAARYIECNQGQTLFASADTAYVLAYSIIMLT
TDLHSPQVKNKMTKEQYIKMNRGINDSKDLPEEYLSSIYEEIEGKKIAMKETKELTIATK
STKQNVASEKQRRLLYNLEMEQMAKTAKALMEAVSHAKAPFTSATHLDHVRPMFKLVWTP
LLAAYSIGLQNCDDTEVASLCLEGIRCAIRIACIFGMQLERDAYVQALARFSLLTASSSI
TEMKQKNIDTIKTLITVAHTDGNYLGNSWHEILKCISQLELAQLIGTGVKTRYLSGSGRE
REGSLKGHTLAGEEFMGLGLGNLVSGGVDKRQMASFQESVGETSSQSVVVAVDRIFTGST
RLDGNAIVDFVRWLCAVSMDELASPHHPRMFSLQKIVEISYYNMNRIRLQWSRIWHVIGD
HFNKVGCNPNEDVAIFAVDSLRQLSMKFLEKGELANFRFQKDFLRPFEHIMKKNRSPTIR
DMAIRCIAQMVNSQAANIRSGWKNIFAVFHQAASDHDGNIVELAFQTTCHIVTTIFQHHF
PAAIDSFQDAVKCLSEFACNAAFPDTSMEAIRLIRFCGKYVSERPRVLQEYTSDDMNVAP
GDRVWVRGWFPILFELSCIINRCKLDVRTRGLTVMFEIMKSYGHTFEKHWWQDLFRIVFR
IFDNMKLPEQLSEKSEWMTTTCNHALYAICDVFTQFYEALNEVLLSDVFAQLQWCVKQDN
EQLARSGTNCLENLVISNGEKFSPEVWDETCNCMLDIFKTTIPHVLLTWRPVGMEEDSSE
KHLDVDLDRQSLSSIDKNPSERGQSQLSNPTDDSWKGRPYANQKLFASLLIKCVVQLELI
QTIDNIVFYPATSKKEDAEHMVAAQQDTLDADIHIETEDQGMYKYMSSQHLFKLLDCLQE
SHSFSKAFNSNYEQRTVLWRAGFKGKSKPNLLKQETSSLACCLRILFRMYVDENRRDSWE
EIQQRLLTVCSEALAYFITVNSESHREAWTSLLLLLLTKTLKINDEKFKAHASMYYPYLC
EIMQFDLIPELRAVLRKFFLRIGVVYKIWIPEEPSQVPAALSPVW
NT seq 5358 nt   +upstreamnt  +downstreamnt
atgcaggagagccagaccaagagcatgttcgtgtcccgggccctggagaagatcctagcc
gacaaggaggtgaagcggccccagcactcccagctgcgcagggcctgccaggtggcgctc
gatgaaattaaagcagaaatagaaaagcagaggcttggcactgctgcaccaccaaaggca
aacttcattgaagctgacaagtattttcttccattcgagctagcttgccagtccaagtcc
ccaagggtagtcagcacatcccttgactgcttgcagaaactcatcgcatacgggcacatc
actggcaacgcccctgacagtggagcccctgggaagcggctgatcgacagaattgttgaa
accatttgcagttgttttcagggccctcagactgatgaaggggttcagttacaaataatt
aaggctcttctgactgcagtgacttccccacacattgaaattcatgagggtactatcctg
cagacagtgagaacatgttacaatatctatttggccagcaaaaatctcatcaatcaaacc
actgccaaggctacccttactcagatgctgaacgtcattttcacccgcatggaaaaccaa
gtgttgcaggaggccagagaactggaaaaaccaatccagtcaaaaccccagtcccctgtg
atccaagctgcagcagtatccccaaagttcgttcgtttgaagcacagtcaggcacaaagc
aaaccaacaactcccgaaaaaacagatttaaccaacggtgaacatgccaggagtgattct
ggaaaagtaagcacagaaaatggagacgcacccagagaaagaggctcatcactgtcaggg
actgatgacggagcccaggaggtggtgaaggacatcttggaagatgtagtcacatctgcc
attaaagaagcagcggaaaagcatggtctgacagaacctgagagagttctaggtgaactg
gagtgccaggaatgtgctattcccccaggagttgatgaaaactcacagaccaacgggata
gccgatgacaggcagtccttgtcgtcagcagataatctggaatcggatgcacaaggacat
caagtggctgccaggttctcccacgttctgcagaaggatgccttccttgtgttccgctcc
ctgtgcaagctgtccatgaaaccccttggtgaaggccctccagacccaaaatcccatgag
ctgcgttccaaggtggtttccctgcagctgctcctctctgtgttgcaaaatgctggcccc
gtattcaggactcacgagatgttcatcaatgcaatcaagcaatatctctgtgtggccttg
tccaaaaacggcgtctcttcagtgcctgatgtctttgagctctctcttgccatttttctt
actcttctttcaaactttaaaatgcacttgaaaatgcagatagaggtctttttcaaagag
attttcctgaacattttagaaacatcaacaagttcttttgagcacaggtggatggtcatt
cagactctgacgaggatctgtgcagatgcccagtgtgttgtggatatttatgtcaactac
gactgtgatttaaatgctgctaacatttttgagcgccttgtaaatgatttatccaaaatt
gctcagggaagaagtggacatgagctgggaatgacacctctgcaggagctcagcctgagg
aagaaaggcctggagtgcctcgtgtccattctcaagtgcatggtggagtggagcaaagac
ctgtatgtgaatcccaaccaccagaccagcctcggtcaggagaggctcacggatcaggaa
ataggggatgggaaaggccttgacatggcaagacggtgtagtgtgacgtccatggagtcc
acagtgtcctcggggacccagacaactgttcaggatgaccctgagcaatttgaggtcatc
aagcaacaaaaagaaatcattgaacacggcatcgagctgttcaacaagaaacccaagagg
gggatccagtttctccaggagcagggcatgctgggaacgtcagttgaagacatagcccaa
ttcctgcaccaggaggagcgcctggattccacccaagtaggcgattttctgggagatagc
gcaaggttcaacaaggaggtgatgtatgcctacgtggaccaacttgacttctgtgaaaaa
gaatttgtctcagccctgcggacattcctagaaggtttccgcctacctggagaagcccaa
aagattgaccgattaatggagaagtttgccgcaagatacatagaatgcaaccaagggcaa
actctgtttgctagtgctgacactgcttatgtcctagcgtattcaattattatgctgact
acagacttgcacagtcctcaggtaaaaaataaaatgacgaaagagcagtatattaaaatg
aatcggggtatcaatgatagtaaagatctgccagaagagtatctctcaagcatctatgaa
gagatagaaggcaagaaaattgcaatgaaagaaacaaaagagctaacgattgcaaccaaa
tctactaagcagaatgtagctagtgaaaagcagcggcggctgctgtacaacttagagatg
gagcaaatggctaaaacagccaaagctctgatggaggctgtgagccatgccaaagccccg
tttaccagtgccactcacctggaccatgtccggccaatgttcaaactggtgtggacgcca
ctattggcagcctacagcatcggactccagaactgtgatgacactgaagtggcctccttg
tgtttggaaggcatccgatgtgcaatccgaatcgcctgcatctttggaatgcagctggaa
cgagatgcctatgttcaggctcttgctcgcttctccctactcacagccagctccagcatc
acagaaatgaagcagaaaaacatcgacaccattaagacgcttatcacagtggctcacacc
gatggcaactaccttgggaattcctggcatgagatcttgaaatgcatcagccagctggag
ctcgctcagctgataggaaccggtgtgaagacgcgctacctgtctggatctgggcgtgaa
agagaagggagcctgaagggccacacattggcaggagaagagttcatgggccttggcctc
ggtaatttggtgagtggcggagtggataaaagacagatggccagcttccaagaatcggtt
ggtgagaccagctcgcagagtgtggttgtagctgtggacaggatttttactgggtctacc
agactggatggaaatgcaatagttgactttgtccgctggctgtgtgctgtgtccatggat
gaactggcttccccccaccatcctcgcatgttcagcttgcagaagattgtggagatatca
tactacaacatgaatcggatccgactacagtggtctcgaatatggcatgtgattggagat
cacttcaataaggttggctgcaaccctaatgaagatgtggctatctttgctgttgactca
ttaaggcaactctccatgaagtttcttgagaagggtgaattagccaacttccgtttccag
aaagattttctgaggccctttgagcatattatgaagaaaaacaggtctcccaccatccgg
gacatggcgatccgctgcattgcccagatggtgaactcccaggcggccaacatccgctca
ggttggaagaacatctttgccgtgttccaccaggcagcctctgatcatgatgggaacatt
gtggagctggccttccagaccacttgccacattgtcacaactattttccagcaccatttt
cctgcagccatcgattcctttcaggatgctgtgaagtgcttatcagagttcgcctgcaac
gccgctttccctgacacgagcatggaagcgattcggctcatccgcttctgtggcaaatac
gtctctgagaggcctcgggtgctacaagaatacacaagtgatgacatgaatgtagctcct
ggtgacagagtctgggtccgaggctggttccccatcttattcgaactctcctgcatcatt
aatagatgcaagttagatgtacgaacaaggggactcacagtcatgtttgagatcatgaag
agctatggccacacctttgaaaagcactggtggcaggacctgttcagaatcgtgtttcgg
atttttgacaatatgaaactccctgagcaactgtcagagaaatctgagtggatgacaaca
acctgcaatcacgcactttatgctatttgtgatgtttttacccagttttatgaagctttg
aatgaagttcttctttctgatgtatttgcacaattgcagtggtgtgtcaaacaagataat
gaacagttggcgcgatcaggtacaaattgcttagaaaacttagtaatatccaatggagag
aaattcagtcctgaagtctgggatgaaacctgcaactgtatgttggatattttcaaaaca
accatcccacatgttttgctgacatggagacctgtaggaatggaggaagattcatcagaa
aagcatttggatgtggatctggaccgccagtctttaagcagcatagataaaaatccctct
gagaggggacagagccagctctctaacccaacagatgacagctggaagggtagaccatac
gcaaatcagaaactgtttgccagcctcctcatcaagtgtgtggtccagttggaattgata
cagaccattgacaacattgtgttctaccctgcgacgagcaaaaaggaggatgcagagcac
atggttgccgcccagcaagacacgctggatgcagatatccacatagagacggaggatcag
ggcatgtataagtacatgtcttcccagcacctcttcaagctgttggactgtttgcaggaa
tcccattcattctcaaaggccttcaactccaattacgagcagcggactgtcctgtggcga
gcaggttttaagggcaagtctaaacccaatcttctaaaacaagaaaccagcagcctggcc
tgttgtttgaggatcctgtttcgaatgtatgttgatgagaaccgcagggattcctgggaa
gaaatacagcagagacttttaactgtttgcagtgaagctcttgcctatttcatcactgtg
aattctgagagccatcgggaggcctggacaagtctcttgttgttacttctaactaaaacc
ctcaaaataaatgatgaaaagttcaaagcacatgcttcaatgtactacccctacttgtgt
gaaattatgcagtttgacctgatccctgagctccgagcagttctgcggaagttcttccta
cggataggtgttgtgtataagatatggataccagaagagccatcacaggtaccagcagca
ctgtcaccagtgtggtag

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