KEGG   Homo sapiens (human): 23229Help
Entry
23229             CDS       T01001                                 

Gene name
ARHGEF9, COLLYBISTIN, EIEE8, HPEM-2, PEM-2, PEM2
Definition
(RefSeq) Cdc42 guanine nucleotide exchange factor 9
  KO
K20686  Rho guanine nucleotide exchange factor 9
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
H00769  Hyperekplexia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23229 (ARHGEF9)
Membrane trafficking [BR:hsa04131]
 Others
  Rho GTPase associated proteins
   Rho guanine nucleotide exchange factors (GEFs)
    23229 (ARHGEF9)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: RhoGEF SH3_1 SH3_2 SH3_9 PH CSD
Motif
Other DBs
NCBI-GeneID: 23229
NCBI-ProteinID: NP_056000
OMIM: 300429
HGNC: 14561
Ensembl: ENSG00000131089
Vega: OTTHUMG00000021700
Pharos: O43307(Tbio)
UniProt: O43307
Structure
PDB: 

Position
Xq11.1
AA seq 516 aa AA seqDB search
MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPAS
FVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIK
HLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEI
GPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLL
TPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQW
QASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDIL
YYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAF
REERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQY
LVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK
NT seq 1551 nt NT seq  +upstreamnt  +downstreamnt
atgacgttgctgatcactggagattccatcgttagtgctgaggcagtatgggatcacgtc
accatggccaaccgggagttggcatttaaagctggcgacgtcatcaaagtcttggatgct
tccaacaaggattggtggtggggccagatcgacgatgaggagggatggtttcctgccagc
tttgtgaggctctgggtgaaccaggaggatgaggtggaggaggggcccagcgatgtgcag
aacggacacctggaccccaattcagactgcctctgtctggggcggccactacagaaccgg
gaccagatgcgggccaatgtcatcaatgagataatgagcactgagcgtcactacatcaag
cacctcaaggatatttgtgagggctatctgaagcagtgccggaagagaagggacatgttc
agtgacgagcaactgaaggtaatctttgggaacattgaagatatctacagatttcagatg
ggctttgtgagagacctggagaaacagtataacaatgatgacccccacctcagcgagata
ggaccctgcttcctagagcaccaagatggattctggatatactctgagtattgtaacaac
cacctggatgcttgcatggagctctccaaactgatgaaggacagccgctaccagcacttc
tttgaggcctgtcgcctcttgcagcagatgattgacattgctatcgatggtttccttttg
actccagtgcagaagatctgcaagtatcccttacagttggctgagctcctaaagtatact
gcccaagaccacagtgactacaggtatgtggcagctgctttggctgtcatgagaaatgtg
actcagcagatcaacgaacgcaagcgacgtttagagaatattgacaagattgctcagtgg
caggcttctgtcctagactgggagggcgaggacatcctagacaggagctcggagctgatc
tacactggggagatggcctggatctaccagccctacggccgcaaccagcagcgggtcttc
ttcctgtttgaccaccagatggtcctctgcaagaaggacctaatccggagagacatcctg
tactacaaaggccgcattgacatggataaatatgaggtagttgacattgaggatggcaga
gatgatgacttcaatgtcagcatgaagaatgcctttaagcttcacaacaaggagactgag
gagatacatctgttctttgccaagaagctggaggaaaaaatacgctggctcagggctttc
agagaagagaggaaaatggtacaggaagatgaaaaaattggctttgaaatttctgaaaac
cagaagaggcaggctgcaatgactgtgagaaaagtccctaagcaaaaaggtgtcaactct
gcccgctcagttcctccttcctacccaccaccgcaggacccgttaaaccacggccagtac
ctggtccccgacggcatcgctcagtcgcaggtctttgagttcaccgaacccaagcgcagc
cagtcaccattctggcaaaacttcagcaggttaacccccttcaaaaaatga

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