SNRPN (small nuclear ribonucleoprotein polypeptide N)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6638
Gene name Gene Name - the full gene name approved by the HGNC.
Small nuclear ribonucleoprotein polypeptide N
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SNRPN
Synonyms (NCBI Gene) Gene synonyms aliases
HCERN3, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN, sm-N
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing a
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT029257 hsa-miR-26b-5p Microarray 19088304
MIRT1376284 hsa-miR-1273f CLIP-seq
MIRT1376285 hsa-miR-143 CLIP-seq
MIRT1376286 hsa-miR-144 CLIP-seq
MIRT1376287 hsa-miR-3134 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
NRF1 Unknown 16116039
SP1 Unknown 16116039
YY1 Unknown 16116039
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 15105431, 28514442, 33961781, 35156780, 36012204
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182279 11164 ENSG00000128739
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P63162
Protein name Small nuclear ribonucleoprotein-associated protein N (snRNP-N) (Sm protein D) (Sm-D) (Sm protein N) (Sm-N) (SmN) (Tissue-specific-splicing protein)
Protein function May be involved in tissue-specific alternative RNA processing events.
PDB 5MF9 , 8TBP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01423 LSM 7 → 82 LSM domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and lymphoblasts. {ECO:0000269|PubMed:10318933}.
Sequence 
MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNAKQPE
REEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGVGRAAGRGVPAGVPI
PQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAVAATASIAGAPTQYPPGRGTPPPPVG
RATPPPGIMAPPPGMRPPMGPPIGLPPARGTPIGMPPPGMRPPPPGIRGPPPPGMRPPRP
Sequence length 240
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    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)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
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
autism spectrum disorder Autism spectrum disorder N/A N/A ClinVar
Prader-Willi Syndrome Prader-Willi syndrome N/A N/A GenCC
Prostate cancer Prostate cancer (late onset) N/A N/A GWAS
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 27718298
Amyotrophic Lateral Sclerosis Associate 23022481
Angelman Syndrome Associate 12154412, 16825435, 17998253, 21227401, 21889609, 36587803, 8571960
Autism Spectrum Disorder Associate 27430727, 37957533
Autistic Disorder Associate 18835857, 26106604, 27430727
Azoospermia Associate 17207798
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 26106604, 35218942
Breast Neoplasms Associate 25560175
Capillary Malformation Arteriovenous Malformation Associate 32693431
Chromosome 15 trisomy mosaicism Associate 8786067