Aliases for RIMBP2 Gene

Aliases for RIMBP2 Gene

  • RIMS Binding Protein 2 2 3 5
  • RIM-BP2 2 3 4
  • RBP2 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 133 2 3
  • RIMS-Binding Protein 2 3 4
  • PPP1R133 2 3
  • KIAA0318 2 4
  • RIM Binding Protein 2 3
  • MGC15831 2
  • RIMBP2 5

External Ids for RIMBP2 Gene

Previous GeneCards Identifiers for RIMBP2 Gene

  • GC12M129406
  • GC12M130880
  • GC12M127866

Summaries for RIMBP2 Gene

GeneCards Summary for RIMBP2 Gene

RIMBP2 (RIMS Binding Protein 2) is a Protein Coding gene. Diseases associated with RIMBP2 include Deafness, Autosomal Dominant 41 and Tricuspid Valve Stenosis. An important paralog of this gene is TSPOAP1.

UniProtKB/Swiss-Prot Summary for RIMBP2 Gene

  • Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIMBP2 Gene

Genomics for RIMBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIMBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J130714 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 617.1 +0.6 579 3.2 ZIC2 ZSCAN4 POLR2A EZH2 MNT SP2 RAD21 RELB EGR1 GATAD2B RIMBP2 lnc-RIMBP2-1 SFSWAP RF00017-1339 PIWIL1
GH12J130138 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +576.5 576533 2 BRCA1 CEBPB FOS CHD2 JUN RCOR1 GTF2F1 SMARCB1 JUND MAX ENSG00000276122 piR-48759-073 RIMBP2 ENSG00000280405 FZD10 FZD10-AS1 TMEM132D
GH12J130632 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +82.6 82640 3.4 ZIC2 PKNOX1 RCOR1 SIN3A FOS CHD2 MNT FOSL2 LOC105370079 RIMBP2 lnc-RIMBP2-1 piR-59414 PIWIL1
GH12J130086 Enhancer 0.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 13.4 +629.5 629472 2.6 TCF7L2 NR3C1 HSALNG0095102 RIMBP2 HSALNG0095103 FZD10 TMEM132D
GH12J130920 Enhancer 1.2 FANTOM5 Ensembl ENCODE 8 -204.5 -204489 1.9 GATAD2A TFE3 RCOR2 RXRB IRF2 CEBPA MNT SOX13 CEBPB ZBTB26 RIMBP2 ENSG00000256250 ADGRD1 ENSG00000206850 lnc-ADGRD1-3 RAN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIMBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIMBP2

Top Transcription factor binding sites by QIAGEN in the RIMBP2 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • Ik-1
  • Max1
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a
  • USF2

Genomic Locations for RIMBP2 Gene

Genomic Locations for RIMBP2 Gene
chr12:130,396,133-130,716,361
(GRCh38/hg38)
Size:
320,229 bases
Orientation:
Minus strand
chr12:130,880,681-131,200,826
(GRCh37/hg19)
Size:
320,146 bases
Orientation:
Minus strand

Genomic View for RIMBP2 Gene

Genes around RIMBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIMBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIMBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIMBP2 Gene

Proteins for RIMBP2 Gene

  • Protein details for RIMBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15034-RIMB2_HUMAN
    Recommended name:
    RIMS-binding protein 2
    Protein Accession:
    O15034
    Secondary Accessions:
    • Q96ID2

    Protein attributes for RIMBP2 Gene

    Size:
    1052 amino acids
    Molecular mass:
    116026 Da
    Quaternary structure:
    • Interacts with RIMS1, RIMS2, CACNA1D and CACNA1B, and potentially with other Ca(2+) channel alpha-1 isoforms.
    SequenceCaution:
    • Sequence=BAA20776.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RIMBP2 Gene

    Alternative splice isoforms for RIMBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIMBP2 Gene

Post-translational modifications for RIMBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIMBP2 Gene

Domains & Families for RIMBP2 Gene

Gene Families for RIMBP2 Gene

Protein Domains for RIMBP2 Gene

InterPro:
Blocks:
  • Variant SH3
  • Aminotransferase, class-II
ProtoNet:

Suggested Antigen Peptide Sequences for RIMBP2 Gene

GenScript: Design optimal peptide antigens:
  • RIMS-binding protein 2 (RIMB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15034

UniProtKB/Swiss-Prot:

RIMB2_HUMAN :
  • The SH3 domains mediate binding to a proline-rich motif in RIMS1, RIMS2, CACNA1D and CACNA1B.
  • Belongs to the RIMBP family.
Domain:
  • The SH3 domains mediate binding to a proline-rich motif in RIMS1, RIMS2, CACNA1D and CACNA1B.
Family:
  • Belongs to the RIMBP family.
genes like me logo Genes that share domains with RIMBP2: view

Function for RIMBP2 Gene

Molecular function for RIMBP2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B.

Phenotypes From GWAS Catalog for RIMBP2 Gene

Gene Ontology (GO) - Molecular Function for RIMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with RIMBP2: view

Phenotypes for RIMBP2 Gene

genes like me logo Genes that share phenotypes with RIMBP2: view

Animal Models for RIMBP2 Gene

MGI Knock Outs for RIMBP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for RIMBP2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMBP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIMBP2 Gene

Localization for RIMBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIMBP2 Gene

Cell membrane. Cell junction, synapse. Note=Synaptic plasma membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIMBP2 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RIMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with RIMBP2: view

Pathways & Interactions for RIMBP2 Gene

PathCards logo

SuperPathways for RIMBP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIMBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007274 neuromuscular synaptic transmission IBA 21873635
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with RIMBP2: view

No data available for Pathways by source and SIGNOR curated interactions for RIMBP2 Gene

Drugs & Compounds for RIMBP2 Gene

No Compound Related Data Available

Transcripts for RIMBP2 Gene

mRNA/cDNA for RIMBP2 Gene

9 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMBP2

Alternative Splicing Database (ASD) splice patterns (SP) for RIMBP2 Gene

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:

Relevant External Links for RIMBP2 Gene

GeneLoc Exon Structure for
RIMBP2

Expression for RIMBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIMBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIMBP2 Gene

This gene is overexpressed in Pituitary (x10.3), Brain - Anterior cingulate cortex (BA24) (x5.4), Brain - Frontal Cortex (BA9) (x5.0), and Brain - Cortex (x4.7).

Protein differential expression in normal tissues from HIPED for RIMBP2 Gene

This gene is overexpressed in Brain (65.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIMBP2 Gene



Protein tissue co-expression partners for RIMBP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIMBP2

SOURCE GeneReport for Unigene cluster for RIMBP2 Gene:

Hs.657441

Evidence on tissue expression from TISSUES for RIMBP2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RIMBP2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIMBP2 Gene

Orthologs for RIMBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIMBP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RIMBP2 30
  • 96.84 (n)
Cow
(Bos Taurus)
Mammalia RIMBP2 30 31
  • 87.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RIMBP2 30 31
  • 85.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rimbp2 30 17 31
  • 83.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rimbp2 30
  • 83.33 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RIMBP2 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RIMBP2 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RIMBP2 30 31
  • 76.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RIMBP2 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rimbp2 30
  • 69.59 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14264 30
Zebrafish
(Danio rerio)
Actinopterygii rimbp2 30 31
  • 67.18 (n)
OneToMany
RIMBP2 (2 of 3) 31
  • 50 (a)
OneToMany
RIMBP2 (3 of 3) 31
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Rbp 31
  • 15 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-168 31
  • 20 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4981 30
Species where no ortholog for RIMBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RIMBP2 Gene

ENSEMBL:
Gene Tree for RIMBP2 (if available)
TreeFam:
Gene Tree for RIMBP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIMBP2: view image

Paralogs for RIMBP2 Gene

Paralogs for RIMBP2 Gene

(3) SIMAP similar genes for RIMBP2 Gene using alignment to 3 proteins:

  • RIMB2_HUMAN
  • F5H3X3_HUMAN
  • H0YFN4_HUMAN
genes like me logo Genes that share paralogs with RIMBP2: view

Variants for RIMBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIMBP2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11060869 - p.Asp888Asn
rs2292664 - p.Pro593Arg

Additional dbSNP identifiers (rs#s) for RIMBP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RIMBP2 Gene

Variant ID Type Subtype PubMed ID
dgv2977n54 CNV gain 21841781
dgv313e214 CNV gain 21293372
esv1253470 CNV insertion 17803354
esv24042 CNV gain 19812545
esv2746753 CNV deletion 23290073
esv2746754 CNV deletion 23290073
esv2746755 CNV deletion 23290073
esv2746756 CNV deletion 23290073
esv2746757 CNV deletion 23290073
esv2746758 CNV deletion 23290073
esv2746759 CNV deletion 23290073
esv2746760 CNV deletion 23290073
esv2746761 CNV deletion 23290073
esv2746762 CNV deletion 23290073
esv2746764 CNV deletion 23290073
esv2746765 CNV deletion 23290073
esv2746766 CNV deletion 23290073
esv2746767 CNV deletion 23290073
esv2759921 CNV gain+loss 17122850
esv3392384 CNV insertion 20981092
esv34208 CNV gain 17911159
esv3582027 CNV gain 25503493
esv3631200 CNV gain 21293372
nsv1037230 CNV gain 25217958
nsv1044909 CNV gain 25217958
nsv1070567 CNV deletion 25765185
nsv1120271 CNV tandem duplication 24896259
nsv1143580 CNV deletion 24896259
nsv1150931 CNV deletion 26484159
nsv1152685 CNV duplication 26484159
nsv455765 CNV gain 19166990
nsv455766 CNV loss 19166990
nsv469863 CNV gain 16826518
nsv509488 CNV insertion 20534489
nsv509489 CNV insertion 20534489
nsv523185 CNV loss 19592680
nsv560735 CNV gain 21841781
nsv560740 CNV gain 21841781
nsv560744 CNV gain 21841781
nsv560745 CNV loss 21841781
nsv560746 CNV loss 21841781
nsv818938 CNV gain 17921354
nsv818939 CNV gain 17921354
nsv832553 CNV loss 17160897
nsv937 CNV insertion 18451855

Variation tolerance for RIMBP2 Gene

Residual Variation Intolerance Score: 58.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIMBP2 Gene

Human Gene Mutation Database (HGMD)
RIMBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIMBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIMBP2 Gene

Disorders for RIMBP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RIMBP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 41
  • dfna41
tricuspid valve stenosis
  • tricuspid stenosis
patent foramen ovale
  • atrial septal defect within oval fossa
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RIMBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RIMBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIMBP2 Gene

Publications for RIMBP2 Gene

  1. Genome-wide association study of Alzheimer's disease with psychotic symptoms. (PMID: 22005930) Hollingworth P … Williams J (Molecular psychiatry 2012) 3 41
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins. (PMID: 10748113) Wang Y … Sudhof TC (The Journal of biological chemistry 2000) 2 3
  5. 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. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4

Products for RIMBP2 Gene

Sources for RIMBP2 Gene