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This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a sin... See more...
Aliases for RBPMS Gene
Aliases for RBPMS Gene
External Ids for RBPMS Gene
- HGNC: 19097
- Entrez Gene: 11030
- Ensembl: ENSG00000157110
- OMIM: 601558
- UniProtKB: Q93062
Previous GeneCards Identifiers for RBPMS Gene
- GC08P030157
- GC08P030693
- GC08P030299
- GC08P030242
- GC08P028786
Summaries for RBPMS Gene
-
This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
GeneCards Summary for RBPMS Gene
RBPMS (RNA Binding Protein, MRNA Processing Factor) is a Protein Coding gene. Diseases associated with RBPMS include Optic Nerve Hypoplasia, Bilateral and Retinal Ischemia. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBPMS2.
UniProtKB/Swiss-Prot Summary for RBPMS Gene
-
Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C-terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224, PubMed:26347403).
Additional gene information for RBPMS Gene
- HGNC(19097)
- Entrez Gene(11030)
- Ensembl(ENSG00000157110)
- OMIM(601558)
- UniProtKB(Q93062)
- Open Targets Platform(ENSG00000157110)
- Search for RBPMS at DataMed
- Search for RBPMS at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBPMS Gene
Genomics for RBPMS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RBPMS 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 RBPMS on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBPMS
- Top Transcription factor binding sites by QIAGEN in the RBPMS gene promoter:
-
- ATF
- ATF-2
- C/EBPalpha
- COMP1
- CRE-BP1
- FOXD1
- FOXF2
- Hlf
- IRF-1
- Max1
Genomic Locations for RBPMS Gene
Genomic Locations for RBPMS Gene
- chr8:30,384,501-30,572,261
- (GRCh38/hg38)
- Size:
- 187,761 bases
- Orientation:
- Plus strand
- chr8:30,241,944-30,429,778
- (GRCh37/hg19)
- Size:
- 187,835 bases
- Orientation:
- Plus strand
Genomic View for RBPMS Gene
Genes around RBPMS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p12 by HGNC
- 8p12 by Entrez Gene
- 8p12 by Ensembl
RBPMS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RBPMS Gene
Proteins for RBPMS Gene
-
Protein details for RBPMS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q93062-RBPMS_HUMAN
- Recommended name:
- RNA-binding protein with multiple splicing
- Protein Accession:
- Q93062
- D3DSU9
- Q92516
- Q92517
- Q92518
- Q96J26
Protein attributes for RBPMS Gene
- Size:
- 196 amino acids
- Molecular mass:
- 21802 Da
- Quaternary structure:
-
- Homodimer; each protein chain binds one RNA molecule via the external surface of the homodimer (PubMed:26347403). Interacts with SMAD2, SMAD3 and SMAD4; the interactions are direct (PubMed:17099224).
- Miscellaneous:
-
- [Isoform A]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for RBPMS Gene
Post-translational modifications for RBPMS Gene
Other Protein References for RBPMS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-RBPMS monoclonal antibody, clone 4C8
- Creative Biolabs Mouse Anti-RBPMS Recombinant Antibody (3D10) and Mouse Anti-RBPMS Recombinant Antibody (1C11)
- GeneTex Anti-RBPMS antibody
-
Custom Antibody ServicesOriGene Antibodies for RBPMS
- Novus Biologicals Antibodies for RBPMS
-
Abcam antibodies for RBPMS
- Invitrogen Antibodies for RBPMS (AFLGC-Rbpms)
-
Boster Bio Antibodies for RBPMS
-
Santa Cruz Biotechnology (SCBT) Antibodies for RBPMS
- Sino Biological Antibodies for RBPMS
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RBPMS
- Origene Custom Protein Services for RBPMS
-
Abcam proteins for RBPMS
Assay Products
- antibodies-online: Show 5 available RBPMS Elisa Kits ranked by validation data
- Compare Top RBPMS Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RBPMS Gene
Domains & Families for RBPMS Gene
Gene Families for RBPMS Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RBPMS Gene
- InterPro:
- Blocks:
-
- RNA-binding region RNP-1 (RNA recognition motif)
- ProtoNet:
Suggested Antigen Peptide Sequences for RBPMS Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ61582, highly similar to RNA-binding protein with multiple splicing (B4E3T4_HUMAN)
- RNA binding protein with multiple splicing (Q569H2_HUMAN)
- Heart and RRM expressed sequence (RBPMS_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q93062UniProtKB/Swiss-Prot:
RBPMS_HUMAN :- The RRM domain is necessary for interaction with SMAD4. Both the RRM domain and the C-terminus are required for TGFB1/Smad-mediated transactivation activity.
- Domain:
-
- The RRM domain is necessary for interaction with SMAD4. Both the RRM domain and the C-terminus are required for TGFB1/Smad-mediated transactivation activity.
Function for RBPMS Gene
Molecular function for RBPMS Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C-terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins (PubMed:26347403). Binds to poly(A) RNA (PubMed:17099224, PubMed:26347403).
- GENATLAS Biochemistry:
- RNA binding protein gene with multiple transcripts,types 1,2,3,4,5
Phenotypes From GWAS Catalog for RBPMS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003713 | transcription coactivator activity | IDA | 17099224 |
| GO:0003723 | RNA binding | IEA,IDA | 26347403 |
| GO:0003729 | mRNA binding | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for RBPMS Gene
- MGI mutant phenotypes for RBPMS:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RBPMS:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RBPMS - Select products 50% OFF >
- * RBPMS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RBPMS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBPMS
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBPMS
miRNA for RBPMS Gene
- miRTarBase miRNAs that target RBPMS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBPMS
- Browse OriGene Inhibitory RNA Products For RBPMS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPMS
Clone Products
- Applied Biological Materials (abm): Clones for RBPMS - Select products 50% OFF >
- * RBPMS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201952
- MG220253
- MR201952
- MR201952L3
- MR201952L4
- MR220253
- MR220253L3
- MR220253L4
- MR228395
- MR228435
- RC200248
- RC200248L3
- RC200248L4
- RC211777
- RC211777L3
- RC211777L4
- RC217006
- RC217006L3
- RC217006L4
- RC220089
- RC220089L3
- RC220089L4
- RG200248
- RG211777
- RG217006
- RG220089
- RR216079
- MR201952L3V
- MR201952L4V
- MR220253L3V
- MR220253L4V
- RC200248L3V
- RC200248L4V
- RC211777L3V
- RC211777L4V
- RC217006L3V
- RC217006L4V
- RC220089L3V
- RC220089L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RBPMS
- Addgene plasmids for RBPMS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RBPMS
Cell Line Products
-
Horizon Cell Lines for RBPMS
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBPMS Gene
Localization for RBPMS Gene
Subcellular locations from UniProtKB/Swiss-Prot for RBPMS Gene
- Nucleus. Cytoplasm. Cytoplasm, P-body. Note=Translocates into cytoplasmic stress granules that probably correspond to P-bodies in response to oxidative stress. {ECO:0000269 PubMed:26347403}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| peroxisome | 0 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000932 | P-body | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for RBPMS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Diurnally Regulated Genes with Circadian Orthologs | ||
Pathways by source for RBPMS Gene
1 BioSystems pathway for RBPMS Gene
Interacting Proteins for RBPMS Gene
Selected Interacting proteins:
Q93062-RBPMS_HUMAN
ENSP00000340176
for RBPMS Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RBPMS
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006396 | RNA processing | TAS | 8855282 |
| GO:0006979 | response to oxidative stress | IMP | 26347403 |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | IDA | 17099224 |
| GO:0060391 | positive regulation of SMAD protein signal transduction | IDA | 17099224 |
| GO:1903508 | positive regulation of nucleic acid-templated transcription | IEA | -- |
No data available for SIGNOR curated interactions for RBPMS Gene
Transcripts for RBPMS Gene
mRNA/cDNA for RBPMS Gene
- 4 REFSEQ mRNAs :
- 25 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000287771 2974 nts (view in UCSC)
- ENST00000320203 3110 nts (view in UCSC)
- ENST00000339877 1341 nts (view in UCSC)
- ENST00000397323 2874 nts (view in UCSC)
- ENST00000517860 1076 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RBPMS - Select products 50% OFF >
- * RBPMS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RBPMS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RBPMS
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBPMS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RBPMS
- Browse OriGene Inhibitory RNA Products For RBPMS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBPMS
Clone Products
- Applied Biological Materials (abm): Clones for RBPMS - Select products 50% OFF >
- * RBPMS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201952
- MG220253
- MR201952
- MR201952L3
- MR201952L4
- MR220253
- MR220253L3
- MR220253L4
- MR228395
- MR228435
- RC200248
- RC200248L3
- RC200248L4
- RC211777
- RC211777L3
- RC211777L4
- RC217006
- RC217006L3
- RC217006L4
- RC220089
- RC220089L3
- RC220089L4
- RG200248
- RG211777
- RG217006
- RG220089
- RR216079
- MR201952L3V
- MR201952L4V
- MR220253L3V
- MR220253L4V
- RC200248L3V
- RC200248L4V
- RC211777L3V
- RC211777L4V
- RC217006L3V
- RC217006L4V
- RC220089L3V
- RC220089L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RBPMS
- Addgene plasmids for RBPMS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RBPMS
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - |
Relevant External Links for RBPMS Gene
- GeneLoc Exon Structure for
- RBPMS
Expression for RBPMS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Eye (Sensory Organs)
- Epiblast (Early Embryonic Tissues)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Ovary (Reproductive System)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for RBPMS Gene
This gene is overexpressed in Artery - Tibial (x4.4), Esophagus - Gastroesophageal Junction (x4.3), and Esophagus - Muscularis (x4.3).
This gene is overexpressed in Salivary gland (9.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBPMS Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBPMS
SOURCE GeneReport for Unigene cluster for RBPMS Gene:
Hs.334587mRNA Expression by UniProt/SwissProt for RBPMS Gene:
Q93062-RBPMS_HUMAN
Tissue specificity:
Ubiquitously expressed, at various levels depending on the isoform and the tissue.
Evidence on tissue expression from TISSUES for RBPMS Gene
- Eye(3.3)
- Heart(3)
- Muscle(2.9)
- Nervous system(2.7)
- Skin(2.5)
- Intestine(2.5)
- Kidney(2.4)
- Gall bladder(2.2)
- Thyroid gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for RBPMS
-
OriGene qPCR primer pairs and template standards for RBPMS
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RBPMS Gene
Orthologs for RBPMS Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RBPMS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RBPMS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RBPMS 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rbpms 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rbpms 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RBPMS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RBPMS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RBPMS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rbpms 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | RBPMS 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | cpo 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | mec-8 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9310 31 |
|
OneToMany |
- Species where no ortholog for RBPMS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 RBPMS Gene
- ENSEMBL:
- Gene Tree for RBPMS (if available)
- TreeFam:
- Gene Tree for RBPMS (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RBPMS: view image
Paralogs for RBPMS Gene
Variants for RBPMS Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3802n106 | CNV | deletion | 24896259 |
| esv1086519 | CNV | deletion | 17803354 |
| esv2367432 | CNV | deletion | 18987734 |
| esv2585826 | CNV | deletion | 19546169 |
| esv2657168 | CNV | deletion | 23128226 |
| esv2736831 | CNV | deletion | 23290073 |
| esv3272940 | CNV | deletion | 24192839 |
| esv3543294 | CNV | deletion | 23714750 |
| esv3572665 | CNV | loss | 25503493 |
| esv3616785 | CNV | loss | 21293372 |
| esv3616786 | CNV | loss | 21293372 |
| esv3616787 | CNV | loss | 21293372 |
| esv3616788 | CNV | loss | 21293372 |
| esv4813 | CNV | loss | 18987735 |
| esv6638 | CNV | loss | 19470904 |
| esv988355 | CNV | deletion | 20482838 |
| nsv1076077 | CNV | deletion | 25765185 |
| nsv396470 | CNV | deletion | 16902084 |
| nsv509260 | CNV | insertion | 20534489 |
| nsv526509 | CNV | gain | 19592680 |
| nsv528908 | CNV | loss | 19592680 |
| nsv957675 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.14;
23.01% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RBPMS Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RBPMS
SNP Genotyping and Copy Number Assay Products
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 RBPMS Gene
Disorders for RBPMS Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| optic nerve hypoplasia, bilateral |
|
|
| retinal ischemia |
|
|
| ocular hypertension |
|
|
| optic nerve disease |
|
|
Search RBPMS in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RBPMS
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RBPMS Gene
Publications for RBPMS Gene
- A unique human gene that spans over 230 kb in the human chromosome 8p11-12 and codes multiple family proteins sharing RNA-binding motifs. (PMID: 8855282) Shimamoto A … Furuichi Y (Proceedings of the National Academy of Sciences of the United States of America 1996) 2 3 4 23
- Conserved binding of GCAC motifs by MEC-8, couch potato, and the RBPMS protein family. (PMID: 28003515) Soufari H … Mackereth CD (RNA (New York, N.Y.) 2017) 2 3
- Structural basis underlying CAC RNA recognition by the RRM domain of dimeric RNA-binding protein RBPMS. (PMID: 26347403) Teplova M … Patel DJ (Quarterly reviews of biophysics 2016) 3 4
- Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs. (PMID: 22174390) Rankinen T … Bouchard C (Journal of applied physiology (Bethesda, Md. : 1985) 2012) 3 41
- 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
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Products for RBPMS Gene
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