Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11017
Gene name Gene Name - the full gene name approved by the HGNC.
Small nuclear ribonucleoprotein U4/U6.U5 subunit 27
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNRNP27
Synonyms (NCBI Gene) Gene synonyms aliases
27K, RY1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component o
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048472 hsa-miR-100-5p CLASH 23622248
MIRT462015 hsa-miR-548n PAR-CLIP 23592263
MIRT462014 hsa-miR-3133 PAR-CLIP 23592263
MIRT462013 hsa-miR-186-5p PAR-CLIP 23592263
MIRT462012 hsa-miR-548av-5p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome NAS 30975767
GO:0003676 Function Nucleic acid binding NAS 7931148
GO:0005515 Function Protein binding IPI 22365833, 23602568, 25416956
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus NAS 30975767
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619629 30240 ENSG00000124380
Protein
UniProt ID Q8WVK2
Protein name U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein (U4/U6.U5 snRNP 27 kDa protein) (U4/U6.U5-27K) (Nucleic acid-binding protein RY-1) (U4/U6.U5 tri-snRNP-associated 27 kDa protein) (27K) (U4/U6.U5 tri-snRNP-associated protein 3)
Protein function May play a role in mRNA splicing.
PDB 6QW6 , 6QX9 , 8H6E , 8H6J , 8QP8 , 8QP9 , 8QPK , 8QXD , 8R08 , 8R0A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08648 SNRNP27 98 154 U4/U6.U5 small nuclear ribonucleoproteins Family
Sequence
MGRSRSRSPRRERRRSRSTSRERERRRRERSRSRERDRRRSRSRSPHRRRSRSPRRHRST
SPSPSRLKERRDEEKKETKETKSKERQITEEDLEGKTEEEIEMMKLMGFASFDSTKGKKV
DGSVNAYAINVSQKRKYRQYMNRKGGFNRPLDFI
A
Sequence length 155
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Spliceosome   mRNA Splicing - Major Pathway
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 29545482