Gene Gene information from NCBI Gene database.
Entrez ID 6634
Gene name Small nuclear ribonucleoprotein D3 polypeptide
Gene symbol SNRPD3
Synonyms (NCBI Gene)
SMD3Sm-D3
Chromosome 22
Chromosome location 22q11.23
Summary This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
miRNA miRNA information provided by mirtarbase database.
245
miRTarBase ID miRNA Experiments Reference
MIRT023211 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT024990 hsa-miR-183-5p Sequencing 20371350
MIRT030561 hsa-miR-24-3p Microarray 19748357
MIRT044049 hsa-miR-363-3p CLASH 23622248
MIRT043833 hsa-miR-330-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000243 Component Commitment complex IBA
GO:0000387 Process Spliceosomal snRNP assembly IBA
GO:0000387 Process Spliceosomal snRNP assembly IDA 18984161
GO:0000387 Process Spliceosomal snRNP assembly IEA
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601062 11160 ENSG00000100028
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62318
Protein name Small nuclear ribonucleoprotein Sm D3 (Sm-D3) (snRNP core protein D3)
Protein function Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, Pu
PDB 1D3B , 3CW1 , 3JCR , 3PGW , 3VRI , 4PJO , 4WZJ , 5MQF , 5O9Z , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6QW6 , 6QX9 , 6V4X , 6Y53 , 6Y5Q , 7A5P , 7ABG , 7ABI , 7B0Y , 7DVQ , 7EVO , 7QTT , 7VPX , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01423 LSM 8 73 LSM domain Domain
Sequence
MSIGVPIKVLHEAEGHIVTCETNTGEVYRGKLIEAEDNMNCQMSNITVTYRDGRVAQLEQ
VYIRGSKIRFLIL
PDMLKNAPMLKSMKNKNQGSGAGRGKAAILKAQVAARGRGRGMGRGN
IFQKRR
Sequence length 126
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome
Systemic lupus erythematosus
  SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 38049564 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 16316942
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 28806746
★☆☆☆☆
Found in Text Mining only
Carcinoma, Spindle-Cell Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 33049985 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 22363785 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 28806746
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 38049564 Associate
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 28296343
★☆☆☆☆
Found in Text Mining only