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] See more...

Aliases for RBM12 Gene

Aliases for RBM12 Gene

  • RNA Binding Motif Protein 12 2 3 5
  • SWAN 2 3 4
  • SH3/WW Domain Anchor Protein In The Nucleus 3 4
  • RNA-Binding Protein 12 3 4
  • HRIHFB2091 2 3
  • KIAA0765 2 4
  • RNA-Binding Motif Protein 12 4
  • SCZD19 3
  • RBM12 5

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 and Schizoaffective Disorder. Gene Ontology (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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RBM12 Gene

Genomics for RBM12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RBM12 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 RBM12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RBM12

Top Transcription factor binding sites by QIAGEN in the RBM12 gene promoter:
  • AML1a
  • AP-2gamma
  • GR
  • GR-alpha
  • Pax-5
  • SEF-1 (1)
  • Sox5
  • TBP

Genomic Locations for RBM12 Gene

Genomic Locations for RBM12 Gene
chr20:35,648,925-35,664,956
(GRCh38/hg38)
Size:
16,032 bases
Orientation:
Minus strand
chr20:34,236,847-34,252,878
(GRCh37/hg19)
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):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RBM12 Gene

GenScript: Design optimal peptide antigens:
  • SH3/WW domain anchor protein in the nucleus (RBM12_HUMAN)
genes like me logo Genes that share domains with RBM12: view

No data available for Graphical View of Domain Structure and 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:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IBA 21873635
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

Human Phenotype Ontology for RBM12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RBM12

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 2
extracellular 1
cytosol 1
lysosome 0

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 --
GO:1990904 ribonucleoprotein complex IBA 21873635
genes like me logo Genes that share ontologies with RBM12: view

Pathways & Interactions for RBM12 Gene

PathCards logo

SuperPathways for RBM12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RBM12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043484 regulation of RNA splicing IBA 21873635
genes like me logo Genes that share ontologies with RBM12: view

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

mRNA/cDNA for RBM12 Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
6 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 RBM12

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

No ASD Table

Relevant External Links for RBM12 Gene

GeneLoc Exon Structure for
RBM12

Expression for RBM12 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for RBM12 Gene



Protein tissue co-expression partners for RBM12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RBM12

SOURCE GeneReport for Unigene cluster for RBM12 Gene:

Hs.700188

Evidence on tissue expression from TISSUES for RBM12 Gene

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

No data available for 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 30 31
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RBM12 30 31
  • 94.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RBM12 30 31
  • 93.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rbm12 30
  • 91.3 (n)
Mouse
(Mus musculus)
Mammalia Rbm12 30 17 31
  • 90.97 (n)
OneToMany
RP23-220D12.12 31
  • 85 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia RBM12 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 22 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves RBM12 30
  • 79.24 (n)
Lizard
(Anolis carolinensis)
Reptilia RBM12 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rbm12 30
  • 70.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii rbm12 30
  • 71.89 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7879 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y106G6D.7 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToMany
Species where no ortholog for RBM12 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)
  • 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 RBM12 Gene

ENSEMBL:
Gene Tree for RBM12 (if available)
TreeFam:
Gene Tree for RBM12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RBM12: view image

Paralogs for RBM12 Gene

Paralogs for RBM12 Gene

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

  • RBM12_HUMAN
  • A6PVI0_HUMAN
  • A6PVI1_HUMAN
  • Q5JX62_HUMAN
genes like me logo Genes that share paralogs with RBM12: view

Variants for RBM12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RBM12 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
708628 Likely Benign: not provided 35,653,359(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
769998 Benign: not provided 35,652,914(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
775434 Benign: not provided 35,652,764(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
779989 Benign: not provided 35,654,738(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
781563 Benign: not provided 35,653,608(-) T/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for RBM12 Gene

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)

Additional Variant Information for RBM12 Gene

Human Gene Mutation Database (HGMD)
RBM12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RBM12

SNP Genotyping and Copy Number Assay Products

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

Disorders for RBM12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RBM12 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia 19
  • sczd19
schizoaffective disorder
  • schizo-affective psychosis
psychotic disorder
  • mental or behavioural disorder
schizophrenia
  • sczd
- 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
  • Schizophrenia 19 (SCZD19) [MIM:617629]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:28628109}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with RBM12: view

No data available for Genatlas for RBM12 Gene

Publications for RBM12 Gene

  1. Truncating mutations in RBM12 are associated with psychosis. (PMID: 28628109) Steinberg S … Stefansson K (Nature genetics 2017) 2 3 4
  2. 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
  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 23
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for RBM12 Gene

  • Signalway Proteins for RBM12

Sources for RBM12 Gene