CHN1
entrez
1123
canonical
uniprot
P15882
canonical
ensembl
ENSG00000128656
resolver
ensp
ENSP00000295497
resolver
ensp
ENSP00000386470
resolver
ensp
ENSP00000386741
resolver
genesymbol
CHN1
resolver
genesymbol_syn
ARHGAP2
resolver
genesymbol_syn
CHN
resolver
hgnc
HGNC:1943
resolver
uniprot
A8K1M6
resolver
uniprot
B3KNU6
resolver
uniprot
B4DV19
resolver
uniprot
Q53SD6
resolver
uniprot
Q53SH5
resolver
uniprot
Q96FB0
resolver
uniprot_entry
CHIN_HUMAN
resolver
uniprot_sec
A8K1M6
resolver
uniprot_sec
B3KNU6
resolver
uniprot_sec
B4DV19
resolver
uniprot_sec
Q53SD6
resolver
uniprot_sec
Q53SH5
resolver
uniprot_sec
Q96FB0
resolver
amino_acid_sequence
MALTLFDTDEYRPPVWKSYLYQLQQEAPHPRRITCTCEVENRPKYYGREFHGMISREAADQLLIVAEGSYLIRESQRQPGTYTLALRFGSQTRNFRLYYDGKHFVGEKRFESIHDLVTDGLITLYIETKAAEYIAKMTINPIYEHVGYTTLNREPAYKKHMPVLKETHDERDSTGQDGVSEKRLTSLVRRATLKENEQIPKYEKIHNFKVHTFRGPHWCEYCANFMWGLIAQGVKCADCGLNVHKQCSKMVPNDCKPDLKHVKKVYSCDLTTLVKAHTTKRPMVVDMCIREIESRGLNSEGLYRVSGFSDLIEDVKMAFDRDGEKADISVNMYEDINIITGALKLYFRDLPIPLITYDAYPKFIESAKIMDPDEQLETLHEALKLLPPAHCETLRYLMAHLKRVTLHEKENLMNAENLGIVFGPTLMRSPELDAMAALNDIRYQRLVVELLIKNEDILF
uniprot
proteins
disease_involvement
DISEASE: Duane retraction syndrome 2 (DURS2) [MIM:604356]: A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. {ECO:0000269|PubMed:18653847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.
uniprot
proteins
mass_dalton
53172
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Phosphorylation is EPHA4 kinase activity-dependent (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
1445199
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18653847
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
2268301
uniprot
proteins
pubmed
2299665
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
7867622
uniprot
proteins
pubmed
8336731
uniprot
proteins
sequence_length
459
uniprot
proteins