RNU12 Gene (RNA Gene)

RNA, U12 Small Nuclear

GC22P042616
GIFtS:
17

Aliases for RNU12 Gene

Subcategory (RNA class) for RNU12 Gene

snRNA

Number of RNA Genes sources:

2 / 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 172
  • 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 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -0.4 -430 4.3 RXRA FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A TCF12 POLR2G SP1 POLDIP3 ENSG00000270022 RNU12 lnc-CYB5R3-1 XRCC6 RPL5P34 RN7SKP80 RRP7BP NAGA CYB5R3
- 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 Structure • Gene Density

RefSeq DNA sequence for RNU12 Gene

Proteins for RNU12 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

Post-translational modifications for RNU12 Gene

No Post-translational modifications

No data available for DME Specific Peptides for RNU12 Gene

Domains & Families for RNU12 Gene

Gene Families for RNU12 Gene

HGNC:
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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for RNU12 Gene

Phenotypes for RNU12 Gene

GenomeRNAi human phenotypes for RNU12:
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) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RNU12 Gene

Localization for RNU12 Gene

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

None

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

Drugs & Compounds for RNU12 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for RNU12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RNU12 Gene

5 RNACentral transcripts :
1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
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

Expression for RNU12 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for RNU12 Gene
mRNA expression by GTEx for RNU12 Gene

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

Products:

  1. SNP Genotyping and Copy Number Assay

Additional dbSNP identifiers (rs#s) for RNU12 Gene

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

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 54
  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 54
  4. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. (PMID: 27863452) Elsaid MF … Aleem AA (Annals of neurology 2017) 3 54
  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 54

ExternalLinks

View latest publications for RNU12 gene in Mastermind

Products for RNU12 Gene

Sources for RNU12 Gene