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RNU12 Gene(RNA Gene)

RNA, U12 Small Nuclear

GCID:
GC22P042616
GIFtS:
18
Genes Participants
UDN Logo

Aliases for RNU12 Gene

Subcategory (RNA class) for RNU12 Gene

snRNA

Quality Score for this RNA gene is

13

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
  • RNU12L 3
  • RNU12P 3

External Ids for RNU12 Gene

ORGUL Members 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.

Additional gene information for RNU12 Gene

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

Genomics for RNU12 Gene

Products:

  1. Regulatory Element

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 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.8 -760 4.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 POLDIP3 ENSG00000270022 GC22P042614 GC22P042618 GC22P042619 RNU12 XRCC6 RPL5P34 NAGA RRP7BP
GH22J042618 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.4 +5.6 5639 3.9 ARNT FEZF1 ZNF2 ZNF121 GLIS2 ZNF143 FOS RUNX3 REST SSRP1 RRP7BP CYB5R3 XRCC6 RN7SKP80 RNU12 ENSG00000270022 ATP5MGL
GH22J042617 Enhancer 0.7 ENCODE dbSUPER 0.7 +2.6 2617 0.6 PAF1 SSRP1 POLR2A MXD4 SERHL2 POLDIP3 XRCC6 A4GALT ENSG00000270022 RNU12 ATP5MGL CYB5R3
GH22J042635 Enhancer 1 Ensembl ENCODE dbSUPER 0.3 +20.8 20811 2 STAT1 KLF1 MAZ JUN MAX CEBPB JUND POLR2A RCOR1 FOS CYB5R3 A4GALT SERHL2 ATP5MGL RNU12 ENSG00000270022
GH22J042623 Enhancer 0.6 ENCODE dbSUPER 0.4 +8.4 8427 1.1 POLR2A REST ZBTB8A RRP7BP CYB5R3 ENSG00000270022 RNU12 ATP5MGL
- 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:
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • CREB
  • deltaCREB

Genomic Locations for RNU12 Gene

Genomic Locations for RNU12 Gene
chr22:42,615,244-42,615,393
(GRCh38/hg38)
Size:
150 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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences 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

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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

SuperPathways for RNU12 Gene

PathCards logo More details on SuperPathways for RNU12
No Data Available

Interacting Proteins for RNU12 Gene

Gene Ontology (GO) - Biological Process for RNU12 Gene

None

No data available for Pathways by source 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

(2) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(2) RNA Central transcripts :

Unigene Clusters for RNU12 Gene

RNA, U12 small nuclear:
Representative Sequences:

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

Products:

  1. Primer
  2. Gene Expression Assay

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

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

Products:

  1. SNP Genotyping and Copy Number Assay

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

Additional Disease Information for RNU12

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RNU12 Gene.

No data available for MalaCards , 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 58
  2. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. (PMID: 27863452) Elsaid MF … Aleem AA (Annals of neurology 2017) 3 58
  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 58
  4. Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. (PMID: 25586593) Madan V … Koeffler HP (Nature communications 2015) 3 58
  5. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PMID: 15146077) Will CL … Lührmann R (RNA (New York, N.Y.) 2004) 3 58

Products for RNU12 Gene

Sources for RNU12 Gene

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