Gene Gene information from NCBI Gene database.
Entrez ID 11017
Gene name Small nuclear ribonucleoprotein U4/U6.U5 subunit 27
Gene symbol SNRNP27
Synonyms (NCBI Gene)
27KRY1
Chromosome 2
Chromosome location 2p13.3
Summary 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.
186
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619629 30240 ENSG00000124380
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atrial Fibrillation Associate 29545482
★★☆☆☆
Found in Text Mining + Unknown/Other Associations