SNRPN (small nuclear ribonucleoprotein polypeptide N)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6638
Gene name Small nuclear ribonucleoprotein polypeptide N
Gene symbol SNRPN
Synonyms (NCBI Gene)
HCERN3PWCRRT-LISM-DSMNSNRNP-NSNURF-SNRPNsm-N
Chromosome 15
Chromosome location 15q11.2
Summary 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.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
NRF1 Unknown 16116039
SP1 Unknown 16116039
YY1 Unknown 16116039
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
182279 11164 ENSG00000128739
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Angelman syndrome Uncertain significance rs886051020 RCV005396953
Autism Uncertain significance rs886051020 RCV005396953
Autism spectrum disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs886051011, rs80135925, rs886051015, rs776280755, rs886051018, rs75184959, rs763736287, rs112560608, rs886051010, rs765651266, rs886051017, rs373215950, rs886051020, rs886051012, rs7170796
View all (7 more)		 RCV000266828
RCV000335499
RCV000395911
RCV000295889
RCV000359287
RCV000262201
RCV000320161
RCV000372539
RCV000363698
RCV000308382
RCV000360813
RCV000261541
RCV000389708
RCV000324112
RCV000376376
RCV000284271
RCV000375031
RCV000278133
RCV000308802
RCV000318345
RCV000268173
RCV000333018
Ovarian serous cystadenocarcinoma Likely benign rs56684653 RCV005893349
Show/Hide Text Mining Associations (43)
Associations from Text MiningDisease 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