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

Aliases for SNRNP48 Gene

Aliases for SNRNP48 Gene

  • Small Nuclear Ribonucleoprotein U11/U12 Subunit 48 2 3 5
  • Small Nuclear Ribonucleoprotein, U11/U12 48KDa Subunit 2 3
  • Small Nuclear Ribonucleoprotein 48kDa (U11/U12) 2 3
  • U11/U12 SnRNP 48 KDa Protein 3 4
  • U11/U12 SnRNP 48K 2 3
  • U11/U12-48K 3 4
  • C6orf151 3 4
  • U11-48K 2 3
  • U11/U12 Small Nuclear Ribonucleoprotein 48 KDa Protein 3
  • Chromosome 6 Open Reading Frame 151 2
  • DJ336K20B.1 3
  • DJ512B11.2 3

External Ids for SNRNP48 Gene

Previous HGNC Symbols for SNRNP48 Gene

  • C6orf151

Previous GeneCards Identifiers for SNRNP48 Gene

  • GC06P007536
  • GC06P007467

Summaries for SNRNP48 Gene

GeneCards Summary for SNRNP48 Gene

SNRNP48 (Small Nuclear Ribonucleoprotein U11/U12 Subunit 48) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway.

UniProtKB/Swiss-Prot for SNRNP48 Gene

  • Likely involved in U12-type 5 splice site recognition.

Additional gene information for SNRNP48 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRNP48 Gene

Genomics for SNRNP48 Gene

GeneHancer (GH) Regulatory Elements for SNRNP48 Gene

Promoters and enhancers for SNRNP48 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J007589 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 670.3 +0.2 188 2 PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 FOS SNRNP48 SSR1 RIOK1 RPL29P1
GH06J006745 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.5 -840.4 -840431 8.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YBX1 DMAP1 YY1 SLC30A9 RIOK1 SNRNP48 SSR1 ENSG00000238221 RREB1 LY86 ENSG00000224532 LOC105374901 GC06P006721 LOC101928004
GH06J006586 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -999.9 -999917 8.1 HDGF PKNOX1 ATF1 SMAD1 YBX1 IRF4 ZNF766 ZNF207 ZNF143 ATF7 LY86 RIOK1 SNRNP48 GC06M006605 LY86-AS1
GH06J007540 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.6 -42.1 -42111 15.2 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS DSP LOC100422646 LOC105374904 SNRNP48 LOC644051 ENSG00000238221 LOC101928076 GC06M007552
GH06J007163 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.1 -421.0 -420955 11.1 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B DMAP1 YY1 POLR2B RIOK1 SNRNP48 RREB1 CAGE1 ENSG00000225092
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNRNP48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNRNP48 gene promoter:
  • E2F-2
  • E2F
  • E2F-1
  • AREB6
  • E2F-3a
  • E2F-4
  • E2F-5
  • ER-alpha
  • Nkx2-5
  • FOXL1

Genomic Locations for SNRNP48 Gene

Genomic Locations for SNRNP48 Gene
21,769 bases
Plus strand
21,769 bases
Plus strand

Genomic View for SNRNP48 Gene

Genes around SNRNP48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRNP48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRNP48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRNP48 Gene

Proteins for SNRNP48 Gene

  • Protein details for SNRNP48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    U11/U12 small nuclear ribonucleoprotein 48 kDa protein
    Protein Accession:
    Secondary Accessions:
    • A8K8P4
    • Q14C91
    • Q5T339
    • Q5THM1
    • Q5THM2
    • Q96MK1

    Protein attributes for SNRNP48 Gene

    339 amino acids
    Molecular mass:
    39965 Da
    Quaternary structure:
    • Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome.

    Three dimensional structures from OCA and Proteopedia for SNRNP48 Gene

    Alternative splice isoforms for SNRNP48 Gene


neXtProt entry for SNRNP48 Gene

Post-translational modifications for SNRNP48 Gene

  • Ubiquitination at posLast=128128
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRNP48 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SNRNP48 Gene

Domains & Families for SNRNP48 Gene

Gene Families for SNRNP48 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SNRNP48 Gene

Suggested Antigen Peptide Sequences for SNRNP48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The CHHC region interacts with the 5 splice site of the U12-type intron.
  • The CHHC region interacts with the 5 splice site of the U12-type intron.
genes like me logo Genes that share domains with SNRNP48: view

Function for SNRNP48 Gene

Molecular function for SNRNP48 Gene

UniProtKB/Swiss-Prot Function:
Likely involved in U12-type 5 splice site recognition.

Phenotypes From GWAS Catalog for SNRNP48 Gene

Gene Ontology (GO) - Molecular Function for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SNRNP48: view

Phenotypes for SNRNP48 Gene

genes like me logo Genes that share phenotypes with SNRNP48: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNRNP48 Gene

Localization for SNRNP48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRNP48 Gene

Subcellular locations from

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 SNRNP48 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005689 U12-type spliceosomal complex IDA 15146077
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SNRNP48: view

Pathways & Interactions for SNRNP48 Gene

genes like me logo Genes that share pathways with SNRNP48: view

Pathways by source for SNRNP48 Gene

Gene Ontology (GO) - Biological Process for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IC 15146077
genes like me logo Genes that share ontologies with SNRNP48: view

No data available for SIGNOR curated interactions for SNRNP48 Gene

Drugs & Compounds for SNRNP48 Gene

No Compound Related Data Available

Transcripts for SNRNP48 Gene

mRNA/cDNA for SNRNP48 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(95) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SNRNP48 Gene

Small nuclear ribonucleoprotein 48kDa (U11/U12):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP48 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - - -
SP2: - -
SP5: -

Relevant External Links for SNRNP48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SNRNP48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SNRNP48 Gene

Protein differential expression in normal tissues from HIPED for SNRNP48 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNRNP48 Gene

Protein tissue co-expression partners for SNRNP48 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNRNP48 Gene:


SOURCE GeneReport for Unigene cluster for SNRNP48 Gene:


Evidence on tissue expression from TISSUES for SNRNP48 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with SNRNP48: view

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 SNRNP48 Gene

Orthologs for SNRNP48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNRNP48 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SNRNP48 34 33
  • 99.31 (n)
(Canis familiaris)
Mammalia SNRNP48 34 33
  • 91.1 (n)
(Mus musculus)
Mammalia Snrnp48 16 34 33
  • 86.55 (n)
(Rattus norvegicus)
Mammalia Snrnp48 33
  • 85.86 (n)
(Bos Taurus)
Mammalia SNRNP48 34 33
  • 84.76 (n)
(Monodelphis domestica)
Mammalia SNRNP48 34
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
-- 34
  • 58 (a)
(Gallus gallus)
Aves SNRNP48 34 33
  • 69.68 (n)
(Anolis carolinensis)
Reptilia SNRNP48 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp48 33
  • 62.55 (n)
Str.20008 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15002 33
(Danio rerio)
Actinopterygii snrnp48 34 33
  • 54.93 (n)
wufd10a06 33
Species where no ortholog for SNRNP48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SNRNP48 Gene

Gene Tree for SNRNP48 (if available)
Gene Tree for SNRNP48 (if available)
Evolutionary constrained regions (ECRs) for SNRNP48: view image

Paralogs for SNRNP48 Gene

No data available for Paralogs for SNRNP48 Gene

Variants for SNRNP48 Gene

Sequence variations from dbSNP and Humsavar for SNRNP48 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000131141 -- 7,602,151(+) C/T intron_variant
rs1000151217 -- 7,590,067(+) A/G upstream_transcript_variant
rs1000160496 -- 7,602,413(+) A/G intron_variant
rs1000192638 -- 7,597,405(+) C/T intron_variant
rs1000240935 -- 7,601,859(+) G/ intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SNRNP48 Gene

Variant ID Type Subtype PubMed ID
dgv370n21 CNV loss 19592680
esv3890787 CNV loss 25118596
nsv1133014 OTHER inversion 24896259
nsv1151332 OTHER inversion 26484159
nsv462624 CNV loss 19166990
nsv5189 CNV insertion 18451855
nsv5190 CNV deletion 18451855
nsv5191 CNV insertion 18451855
nsv600916 CNV loss 21841781
nsv819694 CNV gain 19587683
nsv830580 CNV gain 17160897

Variation tolerance for SNRNP48 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.51; 85.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNRNP48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP48 Gene

Disorders for SNRNP48 Gene

Additional Disease Information for SNRNP48

No disorders were found for SNRNP48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SNRNP48 Gene

Publications for SNRNP48 Gene

  1. 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) 2 3 4 58
  2. Solution structure of the U11-48K CHHC zinc-finger domain that specifically binds the 5' splice site of U12-type introns. (PMID: 19217400) Tidow H … Fersht AR (Structure (London, England : 1993) 2009) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SNRNP48 Gene

Sources for SNRNP48 Gene

Loading form....