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.
9
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 Transcription factors information provided by TRRUST V2 database.
3
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (15)
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
Angelman syndrome Uncertain significance ClinVar
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
CTD, ClinVar, Disgenet, HPO
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANGELMAN SYNDROME DUE TO IMPRINTING DEFECT IN 15Q11-Q13 — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Uncertain significance ClinVar
ClinVar, HPO
ClinVar, HPO
ClinVar, HPO
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Autism spectrum disorder Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (129)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromicria Acromicria HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acromicric Dysplasia Acromicric Dysplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 20442368
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27718298 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 19922137, 20840067, 21708901, 22274580, 22323753, 23022481, 23255347, 24210254, 24803543, 24809826, 25625564, 27466204, 28178525, 28459188, 28515487
View all (3 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 23022481 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 22187232, 24630593
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophy, monomelic Monomelic Amyotrophy BEFREE 15642858
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 10482951, 10594877, 11078565, 12215253, 12563398, 12749060, 14666508, 15014980, 15744456, 16114049, 16116039, 16574761, 17890436, 17998253, 20472822
View all (19 more)
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Angelman Syndrome Angelman syndrome Pubtator 12154412, 16825435, 17998253, 21227401, 21889609, 36587803, 8571960 Associate
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)