Snrpn
Gene Detail

Symbol Name ID

Snrpn small nuclear ribonucleoprotein N MGI:98347

Synonyms

2410045I01Rik, MGC:18604, MGC:30325, Peg4, Pwcr1

Feature Type

protein coding gene

Genetic Map

Chromosome 7

34.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr7:59982495-60005111 bp, - strand From VEGA annotation of GRCm38   22617 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:68297  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: small nuclear ribonucleoprotein associated protein, SmB/SmN types
Gene Tree: Snrpn

Human homologs

Human Homolog		SNRPN, small nuclear ribonucleoprotein polypeptide N
NCBI Gene ID		6638
neXtProt AC		NX_P63162
Human Synonyms		HCERN3, PWCR, RT-LI, SM-D, sm-N, SMN, SNRNP-N, SNURF-SNRPN
Human Chr (Location)		15q11.2; chr15:24823647-24978582 (+)  GRCh38
Disease Associations		(2) Diseases Associated with Human SNRPN

Alleles and phenotypes

All alleles(14) : Gene trapped(3) Targeted(11)
Incidental mutations (data from Mutagenetix , APF )
 

Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality.

 
Human Diseases Modeled Using Mouse Snrpn (2)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (5 annotations)

Component	nucleus, ribonucleoprotein complex, ...
Function	RNA binding

External Resources: FuncBase

Expression

Literature Summary: (32 records)

Data Summary: Results (259)    Tissues (33)    Images (31)
Theiler Stages: 15, 17, 20, 21, 23, 26, 28

Assay Type	Results
RNA in situ	221
Northern blot	23
RT-PCR	15

cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(31) Genomic(9) cDNA(14) Primer pair(7) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000042349 (Evidence)
Ensembl Gene Model	ENSMUSG00000000948 (Evidence)
Entrez Gene	20646 (Evidence)
Consensus CDS Project	CCDS39974.1
International Mouse Knockout Project Status	Snrpn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000042349	VEGA Gene Model | MGI Sequence Detail	22617	C57BL/6J
transcript	OTTMUST00000111612	VEGA | MGI Sequence Detail	1932	Not Applicable
polypeptide	OTTMUSP00000062525	VEGA | MGI Sequence Detail	240	Not Applicable

All sequences(45) RefSeq(6) UniProt(2)

Polymorphisms

All PCR and RFLP(7) : PCR(1) RFLP(6) SNPs within 2kb(1873 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR010920	Like-Sm (LSM) domain
InterPro	IPR001163	Ribonucleoprotein LSM domain
InterPro	IPR006649	Ribonucleoprotein LSM domain, eukaryotic/archaea-type
InterPro	IPR017131	Small ribonucleoprotein associated, SmB/SmN
Protein Ontology	PR:000015349	small nuclear ribonucleoprotein-associated protein N

References

(Earliest) J:2311 Gerrelli D, et al., Cloning and sequencing of a mouse embryonal carcinoma cell mRNA encoding the tissue specific RNA splicing protein SmN. Nucleic Acids Res. 1991 Dec 11;19(23):6642
(Latest) J:198496 Resnick JL, et al., Recommendations for the investigation of animal models of Prader-Willi syndrome. Mamm Genome. 2013 Jun;24(5-6):165-78
All references(120)

Other accession IDs

MGD-MRK-14477, MGI:1923808