RIMS2
entrez
9699
canonical
uniprot
Q9UQ26
canonical
ensembl
ENSG00000176406
resolver
ensp
ENSP00000262231
resolver
ensp
ENSP00000386228
resolver
ensp
ENSP00000390665
resolver
ensp
ENSP00000423559
resolver
ensp
ENSP00000427018
resolver
ensp
ENSP00000428478
resolver
ensp
ENSP00000499454
resolver
ensp
ENSP00000499719
resolver
ensp
ENSP00000512879
resolver
ensp
ENSP00000512880
resolver
ensp
ENSP00000512882
resolver
ensp
ENSP00000516178
resolver
ensp
ENSP00000516179
resolver
ensp
ENSP00000516181
resolver
ensp
ENSP00000516182
resolver
ensp
ENSP00000516184
resolver
ensp
ENSP00000516185
resolver
ensp
ENSP00000516186
resolver
ensp
ENSP00000516187
resolver
ensp
ENSP00000516188
resolver
enst
ENST00000408894
resolver
enst
ENST00000696799
resolver
enst
ENST00000696802
resolver
enst
ENST00000705947
resolver
enst
ENST00000705949
resolver
enst
ENST00000705950
resolver
genesymbol
RIMS2
resolver
genesymbol_syn
KIAA0751
resolver
genesymbol_syn
RAB3IP3
resolver
genesymbol_syn
RIM2
resolver
hgnc
HGNC:17283
resolver
uniprot
A0A8Q3SIU4
resolver
uniprot
A0A8Q3SJ53
resolver
uniprot
A0A994J503
resolver
uniprot
A0A994J5M6
resolver
uniprot
A0A994J7W6
resolver
uniprot
B3KX91
resolver
uniprot
F8W6W8
resolver
uniprot
F8WD47
resolver
uniprot
O43413
resolver
uniprot
Q86XL9
resolver
uniprot
Q8IWV9
resolver
uniprot
Q8IWW1
resolver
uniprot_entry
A0A8Q3SIU4_HUMAN
resolver
uniprot_entry
A0A8Q3SJ53_HUMAN
resolver
uniprot_entry
A0A994J503_HUMAN
resolver
uniprot_entry
A0A994J5M6_HUMAN
resolver
uniprot_entry
A0A994J7W6_HUMAN
resolver
uniprot_entry
F8W6W8_HUMAN
resolver
uniprot_entry
RIMS2_HUMAN
resolver
uniprot_sec
B3KX91
resolver
uniprot_sec
F8WD47
resolver
uniprot_sec
O43413
resolver
uniprot_sec
Q86XL9
resolver
uniprot_sec
Q8IWV9
resolver
uniprot_sec
Q8IWW1
resolver
amino_acid_sequence
MSAPVGPRGRLAPIPAASQPPLQPEMPDLSHLTEEERKIILAVMDRQKKKVKEEHKPQLTQWFPFSGITELVNNVLQPQQKQQNEKEPQTKLHQQFEMYKEQVKKMGEESQQQQEQKGDAPTCGICHKTKFADGCGHNCSYCQTKFCARCGGRVSLRSNKVMWVCNLCRKQQEILTKSGAWFYNSGSNTPQQPDQKVLRGLRNEEAPQEKKPKLHEQTQFQGPSGDLSVPAVEKSRSHGLTRQHSIKNGSGVKHHIASDIASDRKRSPSVSRDQNRRYDQREEREEYSQYATSDTAMPRSPSDYADRRSQHEPQFYEDSDHLSYRDSNRRSHRHSKEYIVDDEDVESRDEYERQRREEEYQSRYRSDPNLARYPVKPQPYEEQMRIHAEVSRARHERRHSDVSLANADLEDSRISMLRMDRPSRQRSISERRAAMENQRSYSMERTREAQGPSSYAQRTTNHSPPTPRRSPLPIDRPDLRRTDSLRKQHHLDPSSAVRKTKREKMETMLRNDSLSSDQSESVRPPPPKPHKSKKGGKMRQISLSSSEEELASTPEYTSCDDVEIESESVSEKGDSQKGKRKTSEQAVLSDSNTRSERQKEMMYFGGHSLEEDLEWSEPQIKDSGVDTCSSTTLNEEHSHSDKHPVTWQPSKDGDRLIGRILLNKRLKDGSVPRDSGAMLGLKVVGGKMTESGRLCAFITKVKKGSLADTVGHLRPGDEVLEWNGRLLQGATFEEVYNIILESKPEPQVELVVSRPIGDIPRIPDSTHAQLESSSSSFESQKMDRPSISVTSPMSPGMLRDVPQFLSGQLSIKLWFDKVGHQLIVTILGAKDLPSREDGRPRNPYVKIYFLPDRSDKNKRRTKTVKKTLEPKWNQTFIYSPVHRREFRERMLEITLWDQARVREEESEFLGEILIELETALLDDEPHWYKLQTHDVSSLPLPHPSPYMPRRQLHGESPTRRLQRSKRISDSEVSDYDCDDGIGVVSDYRHDGRDLQSSTLSVPEQVMSSNHCSPSGSPHRVDVIGRTRSWSPSVPPPQSRNVEQGLRGTRTMTGHYNTISRMDRHRVMDDHYSPDRDRDCEAADRQPYHRSRSTEQRPLLERTTTRSRSTERPDTNLMRSMPSLMTGRSAPPSPALSRSHPRTGSVQTSPSSTPVAGRRGRQLPQLPPKGTLDRKAGGKKLRSTVQRSTETGLAVEMRNWMTRQASRESTDGSMNSYSSEGNLIFPGVRLASDSQFSDFLDGLGPAQLVGRQTLATPAMGDIQVGMMDKKGQLEVEIIRARGLVVKPGSKTLPAPYVKVYLLDNGVCIAKKKTKVARKTLEPLYQQLLSFEESPQGKVLQIIVWGDYGRMDHKSFMGVAQILLDELELSNMVIGWFKLFPPSSLVDPTLAPLTRRASQSSLESSTGPSYSRS
uniprot
proteins
disease_involvement
DISEASE: Cone-rod synaptic disorder syndrome, congenital non-progressive (CRSDS) [MIM:618970]: An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis. {ECO:0000269|PubMed:32470375}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003}.
uniprot
proteins
mass_dalton
160403
uniprot
proteins
pubmed
12620390
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23999003
uniprot
proteins
pubmed
32470375
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1411
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Synapse {ECO:0000250}. Presynaptic cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
uniprot
proteins