This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009] See more...

Aliases for RBM19 Gene

Aliases for RBM19 Gene

  • RNA Binding Motif Protein 19 2 3 5
  • Probable RNA-Binding Protein 19 3 4
  • RNA-Binding Motif Protein 19 4
  • KIAA0682 4
  • Mrd1 3

External Ids for RBM19 Gene

Previous GeneCards Identifiers for RBM19 Gene

  • GC12M112671
  • GC12M112717
  • GC12M114259
  • GC12M111264

Summaries for RBM19 Gene

Entrez Gene Summary for RBM19 Gene

  • This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]

GeneCards Summary for RBM19 Gene

RBM19 (RNA Binding Motif Protein 19) is a Protein Coding gene. Diseases associated with RBM19 include Autosomal Dominant Non-Syndromic Intellectual Disability 1 and Ulnar-Mammary Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is NCL.

UniProtKB/Swiss-Prot Summary for RBM19 Gene

Gene Wiki entry for RBM19 Gene

Additional gene information for RBM19 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM19 Gene

Genomics for RBM19 Gene

GeneHancer (GH) Regulatory Elements for RBM19 Gene

Promoters and enhancers for RBM19 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
GH12J113965 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.4 370 2.8 ZBTB40 ZNF217 CTCF SIN3A TCF12 NRF1 POLR2G USF1 SP1 NCOR1 RBM19 HG983774 TRE-CTC16-1
GH12J114663 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 50.1 -710.4 -710437 25.7 EP300 FOXK2 HNRNPK ZNF217 CTCF NRF1 POLR2G NCOR1 PHF8 FOS TBX3 RBM19 ENSG00000257817 lnc-TBX5-3 lnc-TBX5-4 lnc-SDSL-19 piR-41513 lnc-TBX3-5
GH12J114913 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas 45.5 -951.7 -951703 8.5 ZSCAN5C TCF12 JUND FOS ZNF639 ZIC2 FOXA1 TCF7 ZNF423 ZNF623 HSALNG0094242 RBM19 ENSG00000274879
GH12J114902 Enhancer 1 Ensembl ENCODE 60.2 -937.4 -937368 2.3 FOXK2 RBAK FOS ZIC2 ZBTB10 SP1 GATAD2B CTBP1 ZNF148 ZNF266 RBM19 ENSG00000283459 HSALNG0094242
GH12J113220 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.3 +744.0 744013 4.2 HNRNPK ZNF217 ZSCAN5C NRF1 TCF12 MYC POLR2G USF1 SP1 NCOR1 TPCN1 IQCD RITA1 RBM19 DDX54 RASAL1 PTPN11 ENSG00000201208 RPL6 RF00017-1284
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RBM19 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBM19

Top Transcription factor binding sites by QIAGEN in the RBM19 gene promoter:
  • AP-1
  • ATF6
  • c-Fos
  • c-Jun
  • p300
  • p53
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for RBM19 Gene

Genomic Locations for RBM19 Gene
chr12:113,816,738-113,966,371
(GRCh38/hg38)
Size:
149,634 bases
Orientation:
Minus strand
chr12:114,254,543-114,404,176
(GRCh37/hg19)
Size:
149,634 bases
Orientation:
Minus strand

Genomic View for RBM19 Gene

Genes around RBM19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM19 Gene

Proteins for RBM19 Gene

  • Protein details for RBM19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4C8-RBM19_HUMAN
    Recommended name:
    Probable RNA-binding protein 19
    Protein Accession:
    Q9Y4C8
    Secondary Accessions:
    • A8K5X9
    • Q9BPY6
    • Q9UFN5

    Protein attributes for RBM19 Gene

    Size:
    960 amino acids
    Molecular mass:
    107332 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA31657.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBM19 Gene

neXtProt entry for RBM19 Gene

Post-translational modifications for RBM19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM19 Gene

No data available for DME Specific Peptides for RBM19 Gene

Domains & Families for RBM19 Gene

Gene Families for RBM19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RBM19 Gene

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

Suggested Antigen Peptide Sequences for RBM19 Gene

GenScript: Design optimal peptide antigens:
  • RNA-binding motif protein 19 (RBM19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y4C8

UniProtKB/Swiss-Prot:

RBM19_HUMAN :
  • Belongs to the RRM MRD1 family.
Family:
  • Belongs to the RRM MRD1 family.
genes like me logo Genes that share domains with RBM19: view

Function for RBM19 Gene

Molecular function for RBM19 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in embryo pre-implantation development.

Phenotypes From GWAS Catalog for RBM19 Gene

Gene Ontology (GO) - Molecular Function for RBM19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IBA,IEA 21873635
genes like me logo Genes that share ontologies with RBM19: view
genes like me logo Genes that share phenotypes with RBM19: view

Animal Model Products

CRISPR Products

miRNA for RBM19 Gene

miRTarBase miRNAs that target RBM19

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM19

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM19 Gene

Localization for RBM19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM19 Gene

Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm. Chromosome. Note=In discrete foci distributed throughout the cytoplasm and nucleoplasm during the 4 to 8 cell stages and the morula stage, but not in the periphery of the nucleolar precursor body (NPB). During blastocyst development, becomes increasingly localized to the nucleolus and less to the cytoplasm. At the late blastocyst stage, localized predominantly in the nucleolus. Localized in the nucleolus during interphase and to the perichromosomal sheath during mitosis. Does not colocalize in the cytoplasm with GW182 in P-bodies. May translocate to the nucleolus upon early embryonic development (By similarity). Colocalizes with NPM1 during interphase. By late prophase, metaphase, anaphase and telophase, associates with the chromosome periphery. By telophase localizes to NPB. {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 RBM19 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBM19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm ISS --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IBA,ISS --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with RBM19: view

Pathways & Interactions for RBM19 Gene

PathCards logo

SuperPathways for RBM19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBM19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0040019 positive regulation of embryonic development ISS --
GO:0045292 mRNA cis splicing, via spliceosome IBA 21873635
genes like me logo Genes that share ontologies with RBM19: view

No data available for Pathways by source and SIGNOR curated interactions for RBM19 Gene

Drugs & Compounds for RBM19 Gene

No Compound Related Data Available

Transcripts for RBM19 Gene

mRNA/cDNA for RBM19 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 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 RBM19

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RBM19 Gene

No ASD Table

Relevant External Links for RBM19 Gene

GeneLoc Exon Structure for
RBM19

Expression for RBM19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RBM19 Gene

Protein differential expression in normal tissues from HIPED for RBM19 Gene

This gene is overexpressed in Lung (15.8), Pancreatic juice (9.6), Bone marrow stromal cell (7.9), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RBM19 Gene



Protein tissue co-expression partners for RBM19 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBM19

SOURCE GeneReport for Unigene cluster for RBM19 Gene:

Hs.7482

mRNA Expression by UniProt/SwissProt for RBM19 Gene:

Q9Y4C8-RBM19_HUMAN
Tissue specificity: Expressed in the crypts of Lieberkuhn of the intestine and in intestinal neoplasia (at protein level).

Evidence on tissue expression from TISSUES for RBM19 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with RBM19: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM19 Gene

Orthologs for RBM19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBM19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBM19 31 30
  • 99.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RBM19 31 30
  • 85.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RBM19 31 30
  • 84.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rbm19 30
  • 81.31 (n)
mouse
(Mus musculus)
Mammalia Rbm19 17 31 30
  • 81.23 (n)
oppossum
(Monodelphis domestica)
Mammalia RBM19 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RBM19 31
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves RBM19 31 30
  • 70.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RBM19 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm19 30
  • 63.8 (n)
zebrafish
(Danio rerio)
Actinopterygii rbm19 31 30
  • 63.93 (n)
OneToOne
npo 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4171 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005249 30
  • 53.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3335 31 30
  • 51.63 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rbd-1 31 30
  • 49.6 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR035C 30
  • 51.36 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D14949g 30
  • 47.27 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRD1 33 31 30
  • 46.37 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G19610 30
  • 48.88 (n)
rice
(Oryza sativa)
Liliopsida Os04g0611500 30
  • 49.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02611 30
  • 51.39 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBP22H7.02c 30
  • 46.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.13198 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13198 30
Species where no ortholog for RBM19 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RBM19 Gene

ENSEMBL:
Gene Tree for RBM19 (if available)
TreeFam:
Gene Tree for RBM19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM19: view image

Paralogs for RBM19 Gene

(3) SIMAP similar genes for RBM19 Gene using alignment to 2 proteins:

  • RBM19_HUMAN
  • H0YIL2_HUMAN
genes like me logo Genes that share paralogs with RBM19: view

Variants for RBM19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBM19 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs16943379 - p.Arg821Gly
rs2075387 - p.Arg921Gln
rs2290787 - p.Thr665Ala
rs2290788 - p.Ile623Thr
rs2290789 - p.His609Arg

Additional dbSNP identifiers (rs#s) for RBM19 Gene

Structural Variations from Database of Genomic Variants (DGV) for RBM19 Gene

Variant ID Type Subtype PubMed ID
dgv2885n54 CNV loss 21841781
dgv2886n54 CNV loss 21841781
dgv2887n54 CNV loss 21841781
esv22413 CNV loss 19812545
esv2658799 CNV deletion 23128226
esv2666992 CNV deletion 23128226
esv2746389 CNV deletion 23290073
esv2746390 CNV deletion 23290073
esv2746391 CNV deletion 23290073
esv3549803 CNV deletion 23714750
esv3630792 CNV gain 21293372
esv3630805 CNV loss 21293372
nsv1144649 CNV deletion 24896259
nsv1144650 CNV deletion 24896259
nsv478238 CNV novel sequence insertion 20440878
nsv509477 CNV insertion 20534489
nsv560272 CNV loss 21841781
nsv560273 CNV loss 21841781
nsv560274 CNV loss 21841781
nsv560279 CNV loss 21841781

Variation tolerance for RBM19 Gene

Residual Variation Intolerance Score: 90.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.16; 98.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RBM19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM19

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM19 Gene

Disorders for RBM19 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RBM19 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability 1
  • mrd1
ulnar-mammary syndrome
  • ums
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
diamond-blackfan anemia
  • diamond-blackfan anemia 1
- elite association - COSMIC cancer census association via MalaCards
Search RBM19 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RBM19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RBM19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBM19 Gene

Publications for RBM19 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  3. 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 54
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41 54
  5. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 41 54

Products for RBM19 Gene

Sources for RBM19 Gene