Aliases for RNU12 Gene

Subcategory (RNA class) for RNU12 Gene

snRNA

Quality Score for this RNA gene is

14

Aliases for RNU12 Gene

  • RNA, U12 Small Nuclear 2 3 5
  • RNA, U12 Small Nuclear Pseudogene 2 3
  • RNA, U12 Small Nuclear 1 2 3
  • DJ222E13.7 3
  • RNU12-1 3
  • RF00007 174
  • RNU12L 3
  • RNU12P 3
  • RNU12 2

External Ids for RNU12 Gene

Previous HGNC Symbols for RNU12 Gene

  • RNU12P

Previous GeneCards Identifiers for RNU12 Gene

  • GC00U990629
  • GC0XP045252
  • GC0XP045818
  • GC0XP046037
  • GC0XP046747
  • GC0XP046876
  • GC22P041340
  • GC22P043010
  • GC22P025971
  • GC22P043013
  • GC22P043016

Summaries for RNU12 Gene

GeneCards Summary for RNU12 Gene

RNU12 (RNA, U12 Small Nuclear) is an RNA Gene, and is affiliated with the snRNA class. Diseases associated with RNU12 include Congenital Cerebellar Ataxia Due To Rnu12 Mutation.

Rfam classification for RNU12 Gene

  • U12 minor spliceosomal RNA

Additional gene information for RNU12 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary and piRNA Summary for RNU12 Gene

Genomics for RNU12 Gene

GeneHancer (GH) Regulatory Elements for RNU12 Gene

Promoters and enhancers for RNU12 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
GH22J042612 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.4 -430 4.3 FOXK2 SIN3A ZNF24 SP1 ZBTB40 CTCF SIX5 LCORL FOXA1 MLX POLDIP3 ENSG00000270022 RNU12 lnc-CYB5R3-1 XRCC6 RN7SKP80 RPL5P34 RRP7BP NAGA PHETA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNU12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNU12 gene promoter:
  • CREB
  • deltaCREB
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for RNU12 Gene

Genomic Locations for RNU12 Gene
chr22:42,614,914-42,615,643
(GRCh38/hg38)
Size:
730 bases
Orientation:
Plus strand
chr22:43,011,250-43,011,913
(GRCh37/hg19)
Size:
664 bases
Orientation:
Plus strand

Genomic View for RNU12 Gene

Genes around RNU12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNU12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNU12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNU12 Gene

Proteins for RNU12 Gene

No data available for DME Specific Peptides for RNU12 Gene

Domains & Families for RNU12 Gene

Gene Families for RNU12 Gene

genes like me logo Genes that share domains with RNU12: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RNU12 Gene

Function for RNU12 Gene

Phenotypes From GWAS Catalog for RNU12 Gene

Gene Ontology (GO) - Molecular Function for RNU12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045131 pre-mRNA branch point binding IEA --
genes like me logo Genes that share ontologies with RNU12: view

Phenotypes for RNU12 Gene

genes like me logo Genes that share phenotypes with RNU12: view

Human Phenotype Ontology for RNU12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RNU12 Gene

Localization for RNU12 Gene

Gene Ontology (GO) - Cellular Components for RNU12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005693 U12 snRNP IEA --
genes like me logo Genes that share ontologies with RNU12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for RNU12 Gene

Pathways & Interactions for RNU12 Gene

PathCards logo

SuperPathways for RNU12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RNU12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000348 mRNA branch site recognition IEA --
genes like me logo Genes that share ontologies with RNU12: view

No data available for Pathways by source and SIGNOR curated interactions for RNU12 Gene

Drugs & Compounds for RNU12 Gene

No Compound Related Data Available

Transcripts for RNU12 Gene

mRNA/cDNA for RNU12 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(5) RNACentral transcripts :
(3) ENA transcripts :
(1) Rfam transcripts :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNU12 Gene

No ASD Table

Relevant External Links for RNU12 Gene

GeneLoc Exon Structure for
RNU12
ECgene alternative splicing isoforms for
RNU12

Expression for RNU12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNU12 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNU12 Gene:

RNU12

SOURCE GeneReport for Unigene cluster for RNU12 Gene:

Hs.574857
genes like me logo Genes that share expression patterns with RNU12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNU12 Gene

Orthologs for RNU12 Gene

Evolution for RNU12 Gene

ENSEMBL:
Gene Tree for RNU12 (if available)
TreeFam:
Gene Tree for RNU12 (if available)

No data available for Orthologs for RNU12 Gene

Paralogs for RNU12 Gene

No data available for Paralogs for RNU12 Gene

Variants for RNU12 Gene

Sequence variations from dbSNP and Humsavar for RNU12 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000195915 -- 42,615,512(+) C/G/T downstream_transcript_variant
rs1000643617 -- 42,615,182(+) A/G upstream_transcript_variant
rs1001940679 -- 42,613,332(+) T/G upstream_transcript_variant
rs1002540638 -- 42,614,254(+) G/A upstream_transcript_variant
rs1002646476 -- 42,613,652(+) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RNU12 Gene

Variant ID Type Subtype PubMed ID
esv2758839 CNV gain+loss 17122850
nsv428391 CNV gain 18775914
nsv524028 CNV loss 19592680

Additional Variant Information for RNU12 Gene

Human Gene Mutation Database (HGMD)
RNU12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNU12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for RNU12 Gene

Disorders for RNU12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNU12 Gene - From: Orphanet

- elite association - COSMIC cancer census association via MalaCards
Search RNU12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RNU12

genes like me logo Genes that share disorders with RNU12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNU12 Gene

Publications for RNU12 Gene

  1. U12 snRNA in vertebrates: evolutionary conservation of 5' sequences implicated in splicing of pre-mRNAs containing a minor class of introns. (PMID: 7489523) Tarn WY … Steitz JA (RNA (New York, N.Y.) 1995) 2 3 56
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56
  3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 56
  4. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. (PMID: 27863452) Elsaid MF … Aleem AA (Annals of neurology 2017) 3 56
  5. Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. (PMID: 25586593) Madan V … Koeffler HP (Nature communications 2015) 3 56

Products for RNU12 Gene

Sources for RNU12 Gene