• Gene id: 6633

Gene Summary

• Gene Symbol: SNRPD2   Gene   UCSC   Ensembl
• Aliases: SMD2, SNRPD1, Sm-D2
• Gene name: small nuclear ribonucleoprotein D2 polypeptide
• Alternate names: small nuclear ribonucleoprotein Sm D2, small nuclear ribonucleoprotein D2 polypeptide 16.5kDa, snRNP core protein D2,
• Gene location: 19q13.32 (45692315: 45687453)     Exons: 45     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been fo
• OMIM: 601061

Protein Summary

• Protein general information: P62316  
  • Name: Small nuclear ribonucleoprotein Sm D2 (Sm D2) (snRNP core protein D2)
  • Length: 118  
  • Mass: 13527
• Sequence:

  MSLLNKPKSEMTPEELQKREEEEFNTGPLSVLTQSVKNNTQVLINCRNNKKLLGRVKAFDRHCNMVLENVKEMWT
  EVPKSGKGKKKSKPVNKDRYISKMFLRGDSVIVVLRNPLIAGK

• Structural information:
  • Interpro: IPR001163  IPR010920  IPR027248  
  • CDD: cd01720
  • PDB: 1B34 3CW1 3JCR 3PGW 4F7U 4PJO 4V98 4WZJ 5MQF 5O9Z 5XJC 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • PDBsum: 1B34 3CW1 3JCR 3PGW 4F7U 4PJO 4V98 4WZJ 5MQF 5O9Z 5XJC 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • DIP: 31219
  • STRING: ENSP00000342374
• Other Databases: GeneCards:  SNRPD2  Malacards:  SNRPD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0071013	catalytic step 2 spliceosome	IBA	cellular component
GO:0005682	U5 snRNP	IBA	cellular component
GO:0005685	U1 snRNP	IBA	cellular component
GO:0005686	U2 snRNP	IBA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0071011	precatalytic spliceosome	IBA	cellular component
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005689	U12-type spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0034715	pICln-Sm protein complex	IDA	cellular component
GO:0034709	methylosome	IDA	cellular component
GO:0005687	U4 snRNP	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0030532	small nuclear ribonucleoprotein complex	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000245	spliceosomal complex assembly	TAS	biological process
GO:0008380	RNA splicing	TAS	biological process
GO:0005681	spliceosomal complex	TAS	cellular component
GO:0030532	small nuclear ribonucleoprotein complex	TAS	cellular component
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Systemic lupus erythematosus	PMID:11823543
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq