Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RBM12 Gene

Aliases for RBM12 Gene

  • RNA Binding Motif Protein 12 2 3 5
  • SH3/WW Domain Anchor Protein In The Nucleus 3 4
  • SWAN 3 4
  • RNA-Binding Motif Protein 12 4
  • RNA-Binding Protein 12 3
  • HRIHFB2091 3
  • KIAA0765 4
  • SCZD19 3

External Ids for RBM12 Gene

Previous GeneCards Identifiers for RBM12 Gene

  • GC20U990034
  • GC20M033933
  • GC20M034882
  • GC20M034930
  • GC20M034931
  • GC20M033678
  • GC20M033700
  • GC20M034236
  • GC20M031014

Summaries for RBM12 Gene

Entrez Gene Summary for RBM12 Gene

  • This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]

GeneCards Summary for RBM12 Gene

RBM12 (RNA Binding Motif Protein 12) is a Protein Coding gene. Diseases associated with RBM12 include Schizophrenia 19. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBM12B.

Gene Wiki entry for RBM12 Gene

Additional gene information for RBM12 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM12 Gene

Genomics for RBM12 Gene

Regulatory Elements for RBM12 Gene

Enhancers for RBM12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H035739 3.1 FANTOM5 Ensembl ENCODE dbSUPER 72.5 -76.8 -76768 7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D CPNE1 RBM12 RBM39 ERGIC3 AAR2 PHF20 EIF6 TRPC4AP RPL36P4 MYL9
GH20H035765 1.8 FANTOM5 ENCODE dbSUPER 94.7 -104.6 -104590 9 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF548 SP3 NFYC SSRP1 CPNE1 RBM12 RBM39 NCOA6 ERGIC3 PHF20 AAR2 DLGAP4-AS1 TRPC4AP PROCR
GH20H034954 1.4 ENCODE dbSUPER 51.2 +709.0 709012 2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RBM12 RBM39 NCOA6 CPNE1 ERGIC3 ENSG00000272945 PROCR RPL36P4 MYH7B TRPC4AP
GH20H035283 1.4 ENCODE dbSUPER 40.8 +379.8 379777 3 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 RBM12 EIF6 RBM39 AAR2 NCOA6 ERGIC3 CPNE1 TRPC4AP RPL36P4 FAM83C-AS1
GH20H035436 1.2 Ensembl ENCODE 45.7 +226.9 226860 3 ATF1 ZNF493 ARID4B GLIS2 ZNF302 ZNF416 ZNF143 ATF7 MCM3 YY2 UQCC1 RBM12 GGT7 NCOA6 RBM39 AAR2 CPNE1 PROCR ERGIC3 MMP24-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RBM12 on UCSC Golden Path with GeneCards custom track

Promoters for RBM12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136587 956 2801 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for RBM12 Gene

Chromosome:
20
Start:
35,648,925 bp from pter
End:
35,664,956 bp from pter
Size:
16,032 bases
Orientation:
Minus strand

Genomic View for RBM12 Gene

Genes around RBM12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM12 Gene

Proteins for RBM12 Gene

  • Protein details for RBM12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTZ6-RBM12_HUMAN
    Recommended name:
    RNA-binding protein 12
    Protein Accession:
    Q9NTZ6
    Secondary Accessions:
    • B3KRU2
    • E1P5R6
    • O94865
    • Q8N3B1
    • Q9H196

    Protein attributes for RBM12 Gene

    Size:
    932 amino acids
    Molecular mass:
    97395 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA34485.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBM12 Gene

neXtProt entry for RBM12 Gene

Post-translational modifications for RBM12 Gene

  • Ubiquitination at Lys349
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RBM12 Gene

Domains & Families for RBM12 Gene

Gene Families for RBM12 Gene

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

Protein Domains for RBM12 Gene

Suggested Antigen Peptide Sequences for RBM12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RBM12: view

No data available for UniProtKB/Swiss-Prot for RBM12 Gene

Function for RBM12 Gene

Phenotypes From GWAS Catalog for RBM12 Gene

Gene Ontology (GO) - Molecular Function for RBM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,IDA 22658674
GO:0005515 protein binding IPI 25910212
genes like me logo Genes that share ontologies with RBM12: view
genes like me logo Genes that share phenotypes with RBM12: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RBM12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM12 Gene

Localization for RBM12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM12 Gene

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 RBM12 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RBM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with RBM12: view

Pathways & Interactions for RBM12 Gene

SuperPathways for RBM12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBM12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RBM12 Gene

Drugs & Compounds for RBM12 Gene

No Compound Related Data Available

Transcripts for RBM12 Gene

Unigene Clusters for RBM12 Gene

RNA binding motif protein 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RBM12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RBM12 Gene

No ASD Table

Relevant External Links for RBM12 Gene

GeneLoc Exon Structure for
RBM12
ECgene alternative splicing isoforms for
RBM12

Expression for RBM12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RBM12 Gene

Protein differential expression in normal tissues from HIPED for RBM12 Gene

This gene is overexpressed in Lymph node (14.2) and Peripheral blood mononuclear cells (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RBM12 Gene



Protein tissue co-expression partners for RBM12 Gene

NURSA nuclear receptor signaling pathways regulating expression of RBM12 Gene:

RBM12

SOURCE GeneReport for Unigene cluster for RBM12 Gene:

Hs.700188

Evidence on tissue expression from TISSUES for RBM12 Gene

  • Stomach(5)
  • Intestine(4.9)
  • Nervous system(4.9)
  • Lung(4.6)
  • Kidney(4.4)
genes like me logo Genes that share expression patterns with RBM12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RBM12 Gene

Orthologs for RBM12 Gene

This gene was present in the common ancestor of animals.

Orthologs for RBM12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RBM12 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia RBM12 33 34
  • 94.4 (n)
cow
(Bos Taurus)
Mammalia RBM12 33 34
  • 93.5 (n)
rat
(Rattus norvegicus)
Mammalia Rbm12 33
  • 91.3 (n)
mouse
(Mus musculus)
Mammalia Rbm12 33 16 34
  • 90.97 (n)
RP23-220D12.12 34
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RBM12 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 22 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RBM12 33
  • 79.24 (n)
lizard
(Anolis carolinensis)
Reptilia RBM12 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rbm12 33
  • 70.31 (n)
zebrafish
(Danio rerio)
Actinopterygii rbm12 33
  • 71.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7879 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y106G6D.7 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
OneToMany
Species where no ortholog for RBM12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 RBM12 Gene

ENSEMBL:
Gene Tree for RBM12 (if available)
TreeFam:
Gene Tree for RBM12 (if available)

Paralogs for RBM12 Gene

Paralogs for RBM12 Gene

(2) SIMAP similar genes for RBM12 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with RBM12: view

Variants for RBM12 Gene

Sequence variations from dbSNP and Humsavar for RBM12 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000003448 -- 35,661,115(+) TACCC(A/C)CCCCA intron-variant
rs1000539674 -- 35,660,860(+) GTCTA(C/T)CTTGA intron-variant
rs1000805847 -- 35,665,805(+) TGGGA(A/G)GCTGA upstream-variant-2KB
rs1000897702 -- 35,657,499(+) GGGAC(A/C)ATCAA intron-variant
rs1000929258 -- 35,650,133(+) AGATA(C/T)ACAAA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RBM12 Gene

Variant ID Type Subtype PubMed ID
esv3645717 CNV gain 21293372
nsv526188 CNV gain 19592680

Variation tolerance for RBM12 Gene

Residual Variation Intolerance Score: 3.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBM12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBM12 Gene

Disorders for RBM12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RBM12 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
schizophrenia 19
- elite association - COSMIC cancer census association via MalaCards
Search RBM12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RBM12_HUMAN
  • Note=Genetic variants in RBM12 may be a cause of susceptibility to psychotic disorders. Psychotic disorders are characterized by a gross impairment in reality testing with delusions or prominent hallucinations. {ECO:0000269 PubMed:28628109}.

Relevant External Links for RBM12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBM12
genes like me logo Genes that share disorders with RBM12: view

No data available for Genatlas for RBM12 Gene

Publications for RBM12 Gene

  1. cDNA cloning, chromosome assignment, and genomic structure of a human gene encoding a novel member of the RBM family. (PMID: 11435693) Stover C … Schwaeble W (Cytogenetics and cell genetics 2001) 2 3 4 60
  2. Truncating mutations in RBM12 are associated with psychosis. (PMID: 28628109) Steinberg S … Stefansson K (Nature genetics 2017) 3 4 60
  3. Promoter-sharing by different genes in human genome--CPNE1 and RBM12 gene pair as an example. (PMID: 18831769) Yang W … Lau YL (BMC genomics 2008) 3 22 60
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for RBM12 Gene

Sources for RBM12 Gene

Content
Loading form....