ARHGEF9
entrez
23229
canonical
uniprot
O43307
canonical
ensembl
ENSG00000131089
resolver
ensp
ENSP00000253401
resolver
ensp
ENSP00000364006
resolver
ensp
ENSP00000485144
resolver
ensp
ENSP00000485282
resolver
ensp
ENSP00000485369
resolver
ensp
ENSP00000485626
resolver
ensp
ENSP00000489637
resolver
ensp
ENSP00000489853
resolver
ensp
ENSP00000489862
resolver
ensp
ENSP00000490063
resolver
ensp
ENSP00000490123
resolver
ensp
ENSP00000490269
resolver
ensp
ENSP00000490459
resolver
ensp
ENSP00000490679
resolver
ensp
ENSP00000490691
resolver
ensp
ENSP00000490940
resolver
ensp
ENSP00000499905
resolver
ensp
ENSP00000500715
resolver
ensp
ENSP00000500825
resolver
ensp
ENSP00000500829
resolver
ensp
ENSP00000748171
resolver
enst
ENST00000374872
resolver
enst
ENST00000624210
resolver
enst
ENST00000624538
resolver
enst
ENST00000635729
resolver
enst
ENST00000635967
resolver
enst
ENST00000636048
resolver
enst
ENST00000636392
resolver
enst
ENST00000637178
resolver
enst
ENST00000637417
resolver
enst
ENST00000637520
resolver
enst
ENST00000637557
resolver
enst
ENST00000637723
resolver
enst
ENST00000671741
resolver
enst
ENST00000672513
resolver
genesymbol
ARHGEF9
resolver
genesymbol_syn
ARHDH9
resolver
genesymbol_syn
KIAA0424
resolver
hgnc
HGNC:14561
resolver
uniprot
A0A096LNY0
resolver
uniprot
A0A1B0GTC2
resolver
uniprot
A0A1B0GWI5
resolver
uniprot
A0A5F9ZHY9
resolver
uniprot
A0A5F9ZI31
resolver
uniprot
A8K1S8
resolver
uniprot
B1AMR3
resolver
uniprot
B4DHC7
resolver
uniprot
B4DHM4
resolver
uniprot
F8W7P8
resolver
uniprot
Q5JSL6
resolver
uniprot_entry
A0A1B0GWI5_HUMAN
resolver
uniprot_entry
A0A5F9ZHY9_HUMAN
resolver
uniprot_entry
A0A5F9ZI31_HUMAN
resolver
uniprot_entry
ARHG9_HUMAN
resolver
uniprot_entry
B1AMR3_HUMAN
resolver
uniprot_entry
B4DHM4_HUMAN
resolver
uniprot_sec
A0A096LNY0
resolver
uniprot_sec
A0A1B0GTC2
resolver
uniprot_sec
A8K1S8
resolver
uniprot_sec
B4DHC7
resolver
uniprot_sec
F8W7P8
resolver
uniprot_sec
Q5JSL6
resolver
amino_acid_sequence
MTLLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKDWWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQMRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQMGFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQHFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAVMRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGRNQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAFKLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVRKVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDGIAQSQVFEFTEPKRSQSPFWQNFSRLTPFKK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 8 (DEE8) [MIM:300607]: A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion. {ECO:0000269|PubMed:15215304, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:25678704}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity). {ECO:0000250|UniProtKB:Q9QX73, ECO:0000269|PubMed:10559246}.
uniprot
proteins
mass_dalton
60982
uniprot
proteins
pubmed
10559246
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15215304
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
22612257
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
25678704
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
516
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10559246}. Postsynaptic density {ECO:0000250|UniProtKB:Q3UTH8}.
uniprot
proteins