Gene Gene information from NCBI Gene database.
Entrez ID 23504
Gene name RIMS binding protein 2
Gene symbol RIMBP2
Synonyms (NCBI Gene)
PPP1R133RBP2RIM-BP2
Chromosome 12
Chromosome location 12q24.33
miRNA miRNA information provided by mirtarbase database.
131
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0007274 Process Neuromuscular synaptic transmission IBA
GO:0016020 Component Membrane IEA
GO:0045202 Component Synapse IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611602 30339 ENSG00000060709
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27008505
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 22153617
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37466093 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 25797252
★☆☆☆☆
Found in Text Mining only
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 25575817, 31374292
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12907615, 24582965, 29028222
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Carcinoma BEFREE 12907615
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34147074, 35473892 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 32036209 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 22153617
★☆☆☆☆
Found in Text Mining only