Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23504
Gene name Gene Name - the full gene name approved by the HGNC.
RIMS binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RIMBP2
Synonyms (NCBI Gene) Gene synonyms aliases
PPP1R133, RBP2, RIM-BP2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.33
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT724868 hsa-miR-330-3p HITS-CLIP 19536157
MIRT724867 hsa-miR-4286 HITS-CLIP 19536157
MIRT724866 hsa-miR-371b-5p HITS-CLIP 19536157
MIRT724865 hsa-miR-373-5p HITS-CLIP 19536157
MIRT724864 hsa-miR-616-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0007274 Process Neuromuscular synaptic transmission IBA 21873635
GO:0010923 Process Negative regulation of phosphatase activity IDA 19389623
GO:0045202 Component Synapse IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611602 30339 ENSG00000060709
Protein
UniProt ID O15034
Protein name RIMS-binding protein 2 (RIM-BP2)
Protein function Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.
PDB 1WIE , 2CSI , 2CSP , 2CSQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 174 230 Variant SH3 domain Domain
PF07653 SH3_2 852 914 Variant SH3 domain Domain
PF14604 SH3_9 959 1015 Variant SH3 domain Domain
Sequence
MREAAERRQQLQLEHDQALAVLSAKQQEIDLLQKSKVRELEEKCRTQSEQFNLLSRDLEK
FRQHAGKIDLLGGSAVAPLDISTAPSKPFPQFMNGLATSLGKGQESAIGGSSAIGEYIRP
LPQPGDRPEPLSAKPTFLSRSGSARCRSESDMENERNSNTSKQRYSGKVHLCVARYSYNP
FDGPNENPEAELPLTAGKYLYVYGDMDEDGFYEGELLDGQRGLVPSNFVD
FVQDNESRLA
STLGNEQDQNFINHSGIGLEGEHILDLHSPTHIDAGITDNSAGTLDVNIDDIGEDIVPYP
RKITLIKQLAKSVIVGWEPPAVPPGWGTVSSYNVLVDKETRMNLTLGSRTKALIEKLNMA
ACTYRISVQCVTSRGSSDELQCTLLVGKDVVVAPSHLRVDNITQISAQLSWLPTNSNYSH
VIFLNEEEFDIVKAARYKYQFFNLRPNMAYKVKVLAKPHQMPWQLPLEQREKKEAFVEFS
TLPAGPPAPPQDVTVQAGVTPATIRVSWRPPVLTPTGLSNGANVTGYGVYAKGQRVAEVI
FPTADSTAVELVRLRSLEAKGVTVRTLSAQGESVDSAVAAVPPELLVPPTPHPRPAPQSK
PLASSGVPETKDEHLGPHARMDEAWEQSRAPGPVHGHMLEPPVGPGRRSPSPSRILPQPQ
GTPVSTTVAKAMAREAAQRVAESSRLEKRSVFLERSSAGQYAASDEEDAYDSPDFKRRGA
SVDDFLKGSELGKQPHCCHGDEYHTESSRGSDLSDIMEEDEEELYSEMQLEDGGRRRPSG
TSHNALKILGNPASAGRVDHMGRRFPRGSAGPQRSRPVTVPSIDDYGRDRLSPDFYEESE
TDPGAEELPARIFVALFDYDPLTMSPNPDAAEEELPFKEGQIIKVYGDKDADGFYRGETC
ARLGLIPCNMVSEI
QADDEEMMDQLLRQGFLPLNTPVEKIERSRRSGRRHSVSTRRMVAL
YDYDPRESSPNVDVEAELTFCTGDIITVFGEIDEDGFYYGELNGQKGLVPSNFLE
EVPDD
VEVYLSDAPSHYSQDTPMRSKAKRKKSVHFTP
Sequence length 1052
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
19196962
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Asthma Associate 37466093
Carcinoma Hepatocellular Associate 35473892
Carcinoma Squamous Cell Associate 32036209
Pulmonary Disease Chronic Obstructive Associate 37466093