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Aliases for RIMBP2 Gene

Aliases for RIMBP2 Gene

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

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. Among its related pathways are Signaling by GPCR and Metabolism. An important paralog of this gene is RIMBP3C.

UniProtKB/Swiss-Prot 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIMBP2 Gene

Genomics for RIMBP2 Gene

Regulatory Elements for RIMBP2 Gene

Genomic Location for RIMBP2 Gene

Chromosome:
12
Start:
130,396,133 bp from pter
End:
130,716,351 bp from pter
Size:
320,219 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

Proteomics data for RIMBP2 Gene at MOPED

Post-translational modifications for RIMBP2 Gene

  • Ubiquitination at Lys 727 and Lys 733
  • Modification sites at PhosphoSitePlus

Other Protein References for RIMBP2 Gene

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

Suggested Antigen Peptide Sequences for RIMBP2 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 3 fibronectin type-III domains.
  • Contains 3 SH3 domains.
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 for RIMBP2 Gene

MGI mutant phenotypes for RIMBP2:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with RIMBP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RIMBP2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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
Jensen Localization Image for RIMBP2 Gene COMPARTMENTS Subcellular localization image for RIMBP2 gene
Compartment Confidence
plasma membrane 3
golgi apparatus 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RIMBP2 Gene

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

Pathways & Interactions for RIMBP2 Gene

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

Interacting Proteins for RIMBP2 Gene

Gene Ontology (GO) - Biological Process for RIMBP2 Gene

None

No data available for SIGNOR curated interactions for RIMBP2 Gene

Drugs & Compounds for RIMBP2 Gene

No Compound Related Data Available

Transcripts for RIMBP2 Gene

Unigene Clusters for RIMBP2 Gene

RIMS binding protein 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
RIMBP2

Expression for RIMBP2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for RIMBP2 Gene



SOURCE GeneReport for Unigene cluster for RIMBP2 Gene Hs.657441

genes like me logo Genes that share expression patterns with RIMBP2: view

Protein tissue co-expression partners for RIMBP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia RIMBP2 35
  • 87.31 (n)
  • 89.34 (a)
RIMBP2 36
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RIMBP2 35
  • 85.17 (n)
  • 88.47 (a)
RIMBP2 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rimbp2 35
  • 83.54 (n)
  • 86.15 (a)
Rimbp2 16
Rimbp2 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RIMBP2 35
  • 96.84 (n)
  • 96.65 (a)
rat
(Rattus norvegicus)
Mammalia Rimbp2 35
  • 83.33 (n)
  • 86.21 (a)
oppossum
(Monodelphis domestica)
Mammalia RIMBP2 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RIMBP2 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIMBP2 35
  • 76.4 (n)
  • 83.82 (a)
RIMBP2 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIMBP2 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rimbp2 35
  • 69.59 (n)
  • 72.17 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14264 35
zebrafish
(Danio rerio)
Actinopterygii rimbp2 35
  • 67.18 (n)
  • 66.96 (a)
rimbp2 36
  • 49 (a)
OneToMany
RIMBP2 (2 of 3) 36
  • 50 (a)
OneToMany
RIMBP2 (3 of 3) 36
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rbp 36
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-168 36
  • 20 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4981 35
Species with no ortholog for RIMBP2:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for RIMBP2 Gene

Paralogs for RIMBP2 Gene

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

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

Variants for RIMBP2 Gene

Sequence variations from dbSNP and Humsavar for RIMBP2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2292664 - 130,437,119(+) GTCTC(A/C/G)GGTGG reference, missense
VAR_057715 -
rs728931 -- 130,603,517(+) CATGT(A/G)CCCAG intron-variant
rs729362 -- 130,692,400(+) AACCA(A/G)GAATG intron-variant
rs729463 -- 130,718,006(+) ATGGA(A/C)CTTGA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv533e1 CNV Complex 17122850
esv34208 CNV Gain 17911159
nsv455765 CNV Gain 19166990
nsv469863 CNV Complex 16826518
nsv509488 CNV Insertion 20534489
nsv818938 CNV Gain 17921354
esv269488 CNV Insertion 20981092
nsv509489 CNV Insertion 20534489
esv2746753 CNV Deletion 23290073
esv2746754 CNV Deletion 23290073
nsv937 CNV Insertion 18451855
nsv832553 CNV Loss 17160897
nsv899633 CNV Loss 21882294
nsv455766 CNV Loss 19166990
esv2746755 CNV Deletion 23290073
esv2746756 CNV Deletion 23290073
esv2746757 CNV Deletion 23290073
esv2746758 CNV Deletion 23290073
esv2746759 CNV Deletion 23290073
esv2746760 CNV Deletion 23290073
esv24042 CNV Gain 19812545
esv2746761 CNV Deletion 23290073
esv2746762 CNV Deletion 23290073
esv1253470 CNV Insertion 17803354
esv2746764 CNV Deletion 23290073
esv2746765 CNV Deletion 23290073
nsv818939 CNV Gain 17921354
esv2746766 CNV Deletion 23290073
esv2746767 CNV Deletion 23290073
nsv523185 CNV Loss 19592680

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)

Relevant External Links for RIMBP2 Gene

HapMap Linkage Disequilibrium report
RIMBP2

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

Disorders for RIMBP2 Gene

Relevant External Links for RIMBP2

Genetic Association Database (GAD)
RIMBP2
Human Genome Epidemiology (HuGE) Navigator
RIMBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIMBP2

No disorders were found for RIMBP2 Gene.

No data available for MalaCards , 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. (Mol. Psychiatry 2012) 3 48 67
  2. 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 T.C. (J. Biol. Chem. 2000) 2 3
  3. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PMID: 21078624) Kahle J.J. … Zoghbi H.Y. (Hum. Mol. Genet. 2011) 3
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3
  5. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PMID: 19389623) Hendrickx A. … Bollen M. (Chem. Biol. 2009) 3

Products for RIMBP2 Gene

Sources for RIMBP2 Gene

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