The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016] See more...

Aliases for RBPMS2 Gene

Aliases for RBPMS2 Gene

  • RNA Binding Protein, MRNA Processing Factor 2 2 3 5
  • RNA-Binding Protein With Multiple Splicing 2 3 4
  • RNA Binding Protein With Multiple Splicing 2 2 3

External Ids for RBPMS2 Gene

Previous GeneCards Identifiers for RBPMS2 Gene

  • GC15M062612
  • GC15U900325
  • GC15M062747
  • GC15M062819
  • GC15M065032
  • GC15M041857

Summaries for RBPMS2 Gene

Entrez Gene Summary for RBPMS2 Gene

  • The protein encoded by this gene is a member of the RNA recognition motif (RRM)-containing protein family and is involved in the development and dedifferentiation of digestive smooth muscle cells. The encoded protein functions as a homodimer and indirectly inhibits the bone morphogenetic protein pathway. [provided by RefSeq, Aug 2016]

GeneCards Summary for RBPMS2 Gene

RBPMS2 (RNA Binding Protein, MRNA Processing Factor 2) is a Protein Coding gene. Diseases associated with RBPMS2 include Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBPMS.

UniProtKB/Swiss-Prot Summary for RBPMS2 Gene

  • RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system (PubMed:25064856). Binds NOG mRNA, the major inhibitor of the bone morphogenetic protein (BMP) pathway. Mediates an increase of NOG mRNA levels, thereby contributing to the negative regulation of BMP signaling pathway and promoting reversible dedifferentiation and proliferation of smooth muscle cells (By similarity).

Additional gene information for RBPMS2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBPMS2 Gene

Genomics for RBPMS2 Gene

GeneHancer (GH) Regulatory Elements for RBPMS2 Gene

Promoters and enhancers for RBPMS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBPMS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBPMS2

Top Transcription factor binding sites by QIAGEN in the RBPMS2 gene promoter:
  • GATA-2
  • HNF-1
  • HNF-1A
  • Ik-1
  • LyF-1
  • MIF-1
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • SEF-1 (1)

Genomic Locations for RBPMS2 Gene

Genomic Locations for RBPMS2 Gene
chr15:64,739,891-64,775,589
(GRCh38/hg38)
Size:
35,699 bases
Orientation:
Minus strand
chr15:65,032,091-65,067,786
(GRCh37/hg19)
Size:
35,696 bases
Orientation:
Minus strand

Genomic View for RBPMS2 Gene

Genes around RBPMS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBPMS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBPMS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBPMS2 Gene

Proteins for RBPMS2 Gene

  • Protein details for RBPMS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZRY4-RBPS2_HUMAN
    Recommended name:
    RNA-binding protein with multiple splicing 2
    Protein Accession:
    Q6ZRY4
    Secondary Accessions:
    • A2RRG0

    Protein attributes for RBPMS2 Gene

    Size:
    209 amino acids
    Molecular mass:
    22497 Da
    Quaternary structure:
    • Homodimer (PubMed:25064856). Interacts with EEF2 (PubMed:25064856).

    Three dimensional structures from OCA and Proteopedia for RBPMS2 Gene

    Alternative splice isoforms for RBPMS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBPMS2 Gene

Post-translational modifications for RBPMS2 Gene

  • Ubiquitination at Lys204
  • Modification sites at PhosphoSitePlus

Other Protein References for RBPMS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RBPMS2 Gene

Domains & Families for RBPMS2 Gene

Gene Families for RBPMS2 Gene

Protein Domains for RBPMS2 Gene

Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RBPMS2 Gene

GenScript: Design optimal peptide antigens:
  • RBPMS2 protein (A2RRG0_HUMAN)
  • RNA-binding protein with multiple splicing 2 (RBPS2_HUMAN)
genes like me logo Genes that share domains with RBPMS2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RBPMS2 Gene

Function for RBPMS2 Gene

Molecular function for RBPMS2 Gene

UniProtKB/Swiss-Prot Function:
RNA-binding protein involved in the regulation of smooth muscle cell differentiation and proliferation in the gastrointestinal system (PubMed:25064856). Binds NOG mRNA, the major inhibitor of the bone morphogenetic protein (BMP) pathway. Mediates an increase of NOG mRNA levels, thereby contributing to the negative regulation of BMP signaling pathway and promoting reversible dedifferentiation and proliferation of smooth muscle cells (By similarity).

Phenotypes From GWAS Catalog for RBPMS2 Gene

Gene Ontology (GO) - Molecular Function for RBPMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IBA,IDA 25064856
GO:0005515 protein binding IPI 25064856
GO:0042803 protein homodimerization activity IPI,IEA 25064856
genes like me logo Genes that share ontologies with RBPMS2: view
genes like me logo Genes that share phenotypes with RBPMS2: view

Animal Model Products

CRISPR Products

miRNA for RBPMS2 Gene

miRTarBase miRNAs that target RBPMS2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBPMS2 Gene

Localization for RBPMS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBPMS2 Gene

Cytoplasm.

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 RBPMS2 gene
Compartment Confidence
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
golgi apparatus 1
extracellular 0

Gene Ontology (GO) - Cellular Components for RBPMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 25064856
genes like me logo Genes that share ontologies with RBPMS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RBPMS2 Gene

Pathways & Interactions for RBPMS2 Gene

PathCards logo

SuperPathways for RBPMS2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBPMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0030514 negative regulation of BMP signaling pathway ISS --
GO:0048557 embryonic digestive tract morphogenesis ISS --
GO:0048661 positive regulation of smooth muscle cell proliferation ISS --
GO:0051151 negative regulation of smooth muscle cell differentiation ISS,IBA --
genes like me logo Genes that share ontologies with RBPMS2: view

No data available for Pathways by source and SIGNOR curated interactions for RBPMS2 Gene

Drugs & Compounds for RBPMS2 Gene

No Compound Related Data Available

Transcripts for RBPMS2 Gene

mRNA/cDNA for RBPMS2 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBPMS2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c
SP1: - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - -

Relevant External Links for RBPMS2 Gene

GeneLoc Exon Structure for
RBPMS2

Expression for RBPMS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBPMS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RBPMS2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x8.7), Heart - Left Ventricle (x8.1), Colon - Sigmoid (x4.7), Esophagus - Gastroesophageal Junction (x4.2), and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for RBPMS2 Gene

This gene is overexpressed in Fetal heart (12.1), Peripheral blood mononuclear cells (10.4), Platelet (9.3), Colon (8.8), Urinary Bladder (8.1), Rectum (6.7), and Heart (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RBPMS2 Gene



Protein tissue co-expression partners for RBPMS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBPMS2

SOURCE GeneReport for Unigene cluster for RBPMS2 Gene:

Hs.436518

Evidence on tissue expression from TISSUES for RBPMS2 Gene

  • Muscle(2.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with RBPMS2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBPMS2 Gene

Orthologs for RBPMS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBPMS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBPMS2 31 30
  • 99.04 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBPMS2 31 30
  • 89.63 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RBPMS2 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rbpms2 17 31 30
  • 88.01 (n)
rat
(Rattus norvegicus)
Mammalia Rbpms2 30
  • 87.72 (n)
cow
(Bos Taurus)
Mammalia RBPMS2 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBPMS2 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBPMS 31
  • 86 (a)
OneToOne
RBPMS2 30
  • 81.67 (n)
lizard
(Anolis carolinensis)
Reptilia RBPMS2 31
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbpms2 30
  • 75.59 (n)
Str.11196 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6280 30
zebrafish
(Danio rerio)
Actinopterygii rbpms2b 31
  • 80 (a)
OneToMany
rbpms2a 31 30
  • 76.63 (n)
OneToMany
zgc55559 30
fruit fly
(Drosophila melanogaster)
Insecta cpo 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mec-8 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9310 31
  • 24 (a)
OneToMany
Species where no ortholog for RBPMS2 was found in the sources mined by GeneCards:
  • 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 RBPMS2 Gene

ENSEMBL:
Gene Tree for RBPMS2 (if available)
TreeFam:
Gene Tree for RBPMS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBPMS2: view image

Paralogs for RBPMS2 Gene

Paralogs for RBPMS2 Gene

(1) SIMAP similar genes for RBPMS2 Gene using alignment to 2 proteins:

  • RBPS2_HUMAN
  • A2RRG0_HUMAN

Pseudogenes.org Pseudogenes for RBPMS2 Gene

genes like me logo Genes that share paralogs with RBPMS2: view

Variants for RBPMS2 Gene

Additional dbSNP identifiers (rs#s) for RBPMS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBPMS2 Gene

Variant ID Type Subtype PubMed ID
dgv1226n106 CNV deletion 24896259
dgv31n68 CNV loss 17160897
nsv1071215 CNV deletion 25765185
nsv528510 CNV loss 19592680
nsv569703 CNV loss 21841781

Variation tolerance for RBPMS2 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBPMS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBPMS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBPMS2 Gene

Disorders for RBPMS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RBPMS2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
megacystis-microcolon-intestinal hypoperistalsis syndrome
  • visceral myopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RBPMS2

genes like me logo Genes that share disorders with RBPMS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBPMS2 Gene

Publications for RBPMS2 Gene

  1. Homodimerization of RBPMS2 through a new RRM-interaction motif is necessary to control smooth muscle plasticity. (PMID: 25064856) Sagnol S … de Santa Barbara P (Nucleic acids research 2014) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. High expression of the RNA-binding protein RBPMS2 in gastrointestinal stromal tumors. (PMID: 23295309) Hapkova I … de Santa Barbara P (Experimental and molecular pathology 2013) 3 54

Products for RBPMS2 Gene

Sources for RBPMS2 Gene