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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RIMBP2 Gene

protein-coding GIFtS: 49
GCID: GC12M130880

RIMS binding protein 2

Explore 4 diseases affiliated with
RIMBP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
RIMS Binding Protein 2¹ ²		MGC15831¹
RBP2¹ ² ³		RIM Binding Protein 2²
RIM-BP2¹ ² ³		RIMS-Binding Protein 2²
KIAA0318¹ ³ ⁵

External Ids:	HGNC: 30339¹	Entrez Gene: 23504²	Ensembl: ENSG00000060709⁷	OMIM: 611602⁵	UniProtKB: O15034³

Export aliases for RIMBP2 gene to outside databases

Previous GC identifers: GC12M129406 GC12M127866

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RIMB2_HUMAN, O15034

Function: Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1,

RIMS2, CACNA1D and CACNA1B (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009755.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RIMBP2 gene promoter:
AhR Max1 NRSF form 1 USF2 Pax-2 Pax-2a NRSF form 2 Arnt Ik-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RIMBP2 promoter sequence

Search SABiosciences Chromatin IP Primers for RIMBP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIMBP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.33 Ensembl cytogenetic band: 12q24.33 HGNC cytogenetic band: 12q24.33

RIMBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMBP2 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M130880: view genomic region (about GC identifiers)

Start:	130,880,681 bp from pter	End:	131,200,826 bp from pter
Size:	320,146 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RIMB2_HUMAN, O15034 (See protein sequence)

Recommended Name: RIMS-binding protein 2

Size: 1052 amino acids; 116026 Da

Subunit: Interacts with RIMS1, RIMS2, CACNA1D and CACNA1B, and potentially with other Ca(2+) channel alpha-1 isoforms

(By similarity)

Subcellular location: Cell membrane (By similarity). Cell junction, synapse (By similarity). Note=Synaptic plasma

membrane (By similarity)

Sequence caution: Sequence=BAA20776.1; Type=Erroneous initiation;

4 PDB 3D structures from and Proteopedia for RIMBP2:

1WIE (3D)

2CSI (3D)

2CSP (3D)

2CSQ (3D)

Secondary accessions: Q96ID2

Alternative splicing: 3 isoforms: O15034-1 O15034-2 O15034-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RIMBP2: NX_O15034

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15034

RIMBP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_056162.4

ENSEMBL proteins:

ENSP00000261655 ENSP00000439437 ENSP00000439030 ENSP00000440347 ENSP00000439159

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	Uscn Proteins for RIMBP2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0030054	cell junction	IEA	--
GO:0045202	synapse	IEA	--

RIMBP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RIMBP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RIMBP2 for domains About GeneDecksing

4 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR001452 SH3_domain

IPR013783 Ig-like_fold

IPR011511 SH3_2

Graphical View of Domain Structure for InterPro Entry O15034

ProtoNet protein and cluster: O15034

2 Blocks protein families:

IPB001917 Aminotransferase

IPB011511 Variant SH3

UniProtKB/Swiss-Prot: RIMB2_HUMAN, O15034

Domain: The SH3 domains mediate binding to a proline-rich motif in RIMS1, RIMS2, CACNA1D and CACNA1B (By similarity)

Similarity: Belongs to the RIMBP family

Similarity: Contains 3 fibronectin type-III domains

Similarity: Contains 3 SH3 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RIMB2_HUMAN, O15034

Function: Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1,

RIMS2, CACNA1D and CACNA1B (By similarity)

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		hsa-miR-3138 hsa-miR-578 hsa-miR-30d hsa-miR-1273d hsa-miR-30a hsa-miR-3622b-3p hsa-miR-3148 hsa-miR-192*

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIMBP2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

RIMBP2 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RIMBP2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

4 Interacting proteins for RIMBP2 (O15034³ ENSP00000261655⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
USP3	Q9Y6I4³, ENSP00000369681⁴	I2D: score=2 STRING: ENSP00000369681
CACNA1A	O00555³	I2D: score=2
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
PPP1CA	ENSP00000326031⁴	STRING: ENSP00000326031

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010923	negative regulation of phosphatase activity	IDA	19389623

RIMBP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RIMBP2
Search CenterWatch for drugs/clinical trials and news about RIMBP2 / RIMB2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RIMBP2 gene:

NM_015347.4

Unigene Cluster for RIMBP2:

RIMS binding protein 2

Hs.657441 [show with all ESTs]

Unigene Representative Sequence: NM_015347

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000261655(uc001uil.2) ENST00000540658 ENST00000536632 ENST00000535703

ENST00000544568 ENST00000536002(uc001uim.3)

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		hsa-miR-3138 hsa-miR-578 hsa-miR-30d hsa-miR-1273d hsa-miR-30a hsa-miR-3622b-3p hsa-miR-3148 hsa-miR-192*

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Additional cDNA sequence:

AB002316.1 AK307226.1 AY699979.1 BC007632.1

12 DOTS entries:

DT.410637 DT.65287135 DT.204152 DT.200198 DT.100666789 DT.121129557 DT.92420871 DT.100656203

DT.92021790 DT.92420870 DT.95339960 DT.95370120

24/74 AceView cDNA sequences (see all 74):

AI002105 AB002316 BM142295 AI215725 CA848987 Z39396 AI457269 BM810381

BE549770 NM_015347 BF063412 AI692410 CR592066 BE504496 AL524244 AA331515

BE261199 BX371347 BE502960 BE312533 BU935068 BQ883029 BE467148 BC007632

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for RIMBP2 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b	^	21	^	22	^	23	^
SP1:									-				-				-		-																		-						-
SP2:									-				-
SP3:
SP4:
SP5:

ExUns:	24	^	25a	·	25b	^	26
SP1:
SP2:
SP3:
SP4:			-		-
SP5:

ECgene alternative splicing isoforms for RIMBP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RIMBP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCACAGTTA

About this image

RIMBP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Mesendoderm (Derivation and sorti...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RIMBP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RIMBP2

SOURCE GeneReport for Unigene cluster: Hs.657441

SABiosciences Custom PCR Arrays for RIMBP2

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RIMBP2 gene from 7/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rimbp2^{1 , 5}	RIMS binding protein 2^{1, 5}	83.54(n)¹ 86.15(a)¹		5 (67.91 cM)⁵ 231760¹ NM_001081388.1¹ NP_001074857.1¹ 128760401⁵
chicken (Gallus gallus)	Aves	RIMBP2¹	RIMS binding protein 2	76.4(n) 83.82(a)		374105 NM_204255.1 NP_989586.1
lizard (Anolis carolinensis)	Reptilia	RIMBP2⁶	--	64(a)	1 ↔ 1	LGb(84719-139747)
African clawed frog (Xenopus laevis)	Amphibia	Xl.14264²	Xenopus laevis transcribed sequences	79.66(n)		BX843629.1
zebrafish (Danio rerio)	Actinopterygii	rimbp2¹	RIMS binding protein 2	67.76(n) 67.85(a)		563166 XM_686534.5 XP_691626.5
fruit fly (Drosophila melanogaster)	Insecta	Rbp⁶	RIM-binding protein	14(a)	1 → many	3R(11200424-11228265)
worm (Caenorhabditis elegans)	Secernentea	tag-168⁶	Temporarily Assigned Gene name family member (tag-...	19(a)	1 → many	III(1789138-1806612)

ENSEMBL Gene Tree for RIMBP2 (if available)
TreeFam Gene Tree for RIMBP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RIMBP2 gene

RIMBP3B² BZRAP1² RIMBP3C² RIMBP3²

3 SIMAP similar genes for RIMBP2 using alignment to 3 protein entries: RIMB2_HUMAN (see all proteins):

ARHGEF7 BZRAP1 SH3GL2

RIMBP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189203156^1,2		--	130880237(+)	`TTGCCA/GTAAGT`	1	--	ds500¹		0	--	--	--	--
rs192419517^1,2		--	130880369(+)	`TAGCCG/TTTCAT`	1	--	ds500¹		0	--	--	--	--
rs200038919^1,2	C,	--	130880411(+)	`GAATT-/AAAACAA`	1	--	ds500¹		0	--	--	--	--
rs183050185^1,2		--	130880438(+)	`TCCTGA/GTAGTG`	1	--	ds500¹		0	--	--	--	--
rs187339506^1,2		--	130880457(+)	`GACTCC/TGTGCG`	1	--	ds500¹		0	--	--	--	--
rs191723643^1,2		--	130880461(+)	`CCGTGC/TGAATG`	1	--	ds500¹		0	--	--	--	--
rs75347669^1,2	F,	--	130880505(+)	`TATGAG/CAGTGT`	1	--	ds500¹		1		EA	120
rs1271637^1,2	C,H	--	130880598(-)	`AAAGCA/CCCATA`	1	--	ds500¹		6		NS EA NA	406
rs140911103^1,2		--	130880638(+)	`TATCCC/TGCTAT`	1	--	ds500¹		0	--	--	--	--
rs75234751^1,2	C,	--	130880670(+)	`AGAATA/GAACAG`	1	--	ds500¹		2		WA	120

HapMap Linkage Disequilibrium report for RIMBP2 (130880681 - 131130681 bp, first 250kb of RIMBP2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 7 variations for RIMBP2
6 CNVs: 9702 9701 8740 3000 3901 4795
1 Indel: 71626

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RIMBP2 for disorders           About GeneDecksing

OMIM gene information: 611602    OMIM disorders: --

4 diseases for RIMBP2:    About MalaCards

carpal tunnel syndrome macular degeneration ataxia neuronitis

1 disease from the University of Copenhagen DISEASES database for RIMBP2:

CD40 ligand deficiency

Human Genome Epidemiology (HuGE) Navigator: RIMBP2 (1 document)

Export disorders for RIMBP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RIMBP2 gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with RIMBP2)

Utopia: connect your pdf to the dynamic
world of online information

Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)^{1, 2} Denis N.J.... Figeys D. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins. (PubMed id 10748113)^{1, 3} Wang Y....Sudhof T.C. (2000)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
Genome-wide association study of Alzheimer's disease w ith psychotic symptoms. (PubMed id 22005930)¹ Hollingworth P....Williams J. (2012)
Comparison of an expanded ataxia interactome with pat ient medical records reveals a relationship between macular degeneration and at axia. (PubMed id 21078624)¹ Kahle J.J....Zoghbi H.Y. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)¹ Hendrickx A.... Bollen M. (2009)
Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)¹ Sowa M.E....Harper J.W. (2009)
Structure and evolution of RIM-BP genes: identificati on of a novel family member. (PubMed id 17855024)¹ Mittelstaedt T. and Schoch S. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23504	HGNC: 30339	AceView: KIAA0318	Ensembl:ENSG00000060709	euGenes: HUgn23504
ECgene: RIMBP2	H-InvDB: RIMBP2

(According to HUGE)
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HUGE: KIAA0318

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RIMBP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RIMBP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RIMBP2 gene:
Search GeneIP for patents involving RIMBP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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RIMS binding protein 2

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