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Aliases for SNRNP48 Gene

Aliases for SNRNP48 Gene

  • Small Nuclear Ribonucleoprotein U11/U12 Subunit 48 2 3
  • Small Nuclear Ribonucleoprotein, U11/U12 48KDa Subunit 2 3 5
  • 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
  • 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 Gene Expression and mRNA Splicing - Major Pathway.

UniProtKB/Swiss-Prot for SNRNP48 Gene

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

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

Genomics for SNRNP48 Gene

Regulatory Elements for SNRNP48 Gene

Enhancers for SNRNP48 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SNRNP48 on UCSC Golden Path with GeneCards custom track

Promoters for SNRNP48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNRNP48 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNRNP48 Gene

7,590,199 bp from pter
7,611,967 bp from pter
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

Proteomics data for SNRNP48 Gene at MOPED

Post-translational modifications for SNRNP48 Gene

  • Ubiquitination at Lys 128
  • 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

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.
  • Contains 1 CHHC-type zinc finger.
  • The CHHC region interacts with the 5 splice site of the U12-type intron.
  • Contains 1 CHHC-type zinc finger.
genes like me logo Genes that share domains with SNRNP48: view

No data available for Gene Families for SNRNP48 Gene

Function for SNRNP48 Gene

Molecular function for SNRNP48 Gene

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

Phenotypes for SNRNP48 Gene

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

Animal Model Products

CRISPR Products

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

Jensen Localization Image for SNRNP48 Gene COMPARTMENTS Subcellular localization image for SNRNP48 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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

Interacting Proteins for SNRNP48 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: ENSP00000339834 for SNRNP48 Gene via STRING

Gene Ontology (GO) - Biological Process for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008380 RNA splicing IC,TAS 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

Unigene Clusters for SNRNP48 Gene

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

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 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, PaxDb, MOPED, and MaxQB for SNRNP48 Gene

SOURCE GeneReport for Unigene cluster for SNRNP48 Gene Hs.13366

genes like me logo Genes that share expression patterns with SNRNP48: view

Protein tissue co-expression partners for SNRNP48 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
(Bos Taurus)
Mammalia SNRNP48 35
  • 84.76 (n)
  • 86.43 (a)
SNRNP48 36
  • 87 (a)
(Canis familiaris)
Mammalia SNRNP48 35
  • 91.1 (n)
  • 91.69 (a)
SNRNP48 36
  • 76 (a)
(Mus musculus)
Mammalia Snrnp48 35
  • 86.55 (n)
  • 86.35 (a)
Snrnp48 16
Snrnp48 36
  • 87 (a)
(Pan troglodytes)
Mammalia SNRNP48 35
  • 99.31 (n)
  • 99.41 (a)
SNRNP48 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Snrnp48 35
  • 85.86 (n)
  • 87.54 (a)
(Monodelphis domestica)
Mammalia SNRNP48 36
  • 65 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
-- 36
  • 63 (a)
(Gallus gallus)
Aves SNRNP48 35
  • 69.68 (n)
  • 69.68 (a)
SNRNP48 36
  • 61 (a)
(Anolis carolinensis)
Reptilia SNRNP48 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp48 35
  • 62.55 (n)
  • 54.75 (a)
Str.20008 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15002 35
(Danio rerio)
Actinopterygii snrnp48 35
  • 54.93 (n)
  • 49.44 (a)
wufd10a06 35
snrnp48 36
  • 43 (a)
Species with no ortholog for SNRNP48:
  • 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)

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 Sequence Context AA Info Type
rs2757594 - 7,590,391(+) GGATC(C/T)CGGGG intron-variant, nc-transcript-variant, reference, missense
rs3823184 - 7,606,066(+) TTCAC(A/G)GCAGT nc-transcript-variant, reference, missense
rs1044761 -- 7,611,805(+) TCTGG(C/T)GCAAA nc-transcript-variant, utr-variant-3-prime
rs1044764 -- 7,610,584(+) GAAGA(A/G)TAAAA nc-transcript-variant, utr-variant-3-prime
rs1044767 -- 7,610,836(+) TGGTT(G/T)GAGCC nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv883433 CNV Gain 21882294
nsv830580 CNV Gain 17160897
nsv5189 CNV Insertion 18451855
nsv462624 CNV Loss 19166990
dgv370n21 CNV Loss 19592680
nsv819694 CNV Gain 19587683
nsv5190 CNV Loss 18451855
nsv5191 CNV Insertion 18451855

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SNRNP48 Gene

Disorders for SNRNP48 Gene

Relevant External Links for SNRNP48

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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 C.L. … Luehrmann R. (RNA 2004) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  5. 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 A.R. (Structure 2009) 3

Products for SNRNP48 Gene

Sources for SNRNP48 Gene