SNRPD3 (small nuclear ribonucleoprotein D3 polypeptide)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 6634 |
| Gene name | Small nuclear ribonucleoprotein D3 polypeptide |
| Gene symbol | SNRPD3 |
| Synonyms (NCBI Gene) |
SMD3Sm-D3
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| 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] |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 126 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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Related Genes
Genes most often co-reported with SNRPD3 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to SNRPD3 (see Related Genes above), that are NOT already directly curated for SNRPD3 itself -- a lead worth checking, not a confirmed association.
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