SDE2 (spliceosome associated SDE2)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 163859
Gene name Spliceosome associated SDE2
Gene symbol SDE2
Synonyms (NCBI Gene)
C1orf55dJ671D7.1
Chromosome 1
Chromosome location 1q42.12
miRNA miRNA information provided by mirtarbase database.
246 Show/Hide all (246)
Download as csvDownload as pdf
miRTarBase ID miRNA Experiments Reference
MIRT047992 hsa-miR-30c-5p CLASH 23622248
MIRT039854 hsa-miR-615-3p CLASH 23622248
MIRT685448 hsa-miR-34a-3p HITS-CLIP 23313552
MIRT685447 hsa-miR-4691-3p HITS-CLIP 23313552
MIRT685446 hsa-miR-3157-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28 Show/Hide all (28)
Download as csvDownload as pdf
GO ID Ontology Definition Evidence Reference
GO:0000479 Process Endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP 34365507
GO:0003677 Function DNA binding IEA
GO:0003684 Function Damaged DNA binding IDA 27906959
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 24981860, 27906959
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
620743 26643 ENSG00000143751
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IQ49
Protein name Splicing regulator SDE2 (Replication stress response regulator SDE2)
Protein function Inhibits translesion DNA synthesis by preventing monoubiquitination of PCNA, this is necessary to counteract damage due to ultraviolet light-induced replication stress (PubMed:27906959). SDE2 is cleaved following PCNA binding, and its complete d
PDB 6QDV , 7N99 , 8C6J , 8RO2 , 9FMD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13019 Sde2_N_Ubi 42 → 166 Silencing defective 2 N-terminal ubiquitin domain Domain
PF13297 Telomere_Sde2_2 385 → 444 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed; enriched in brain, lung and liver. {ECO:0000269|PubMed:34365507}.
Sequence 
MAEAAALVWIRGPGFGCKAVRCASGRCTVRDFIHRHCQDQNVPVENFFVKCNGALINTSD
TVQHGAVYSLEPRLCGGKGGFGSMLRALGAQIEKTTNREACRDLSGRRLRDVNHEKAMAE
WVKQQAEREAEKEQKRLERLQRKLVEPKHCFTSPDYQQQCHEMAERLEDSVLKGMQAASS
KMVSAEISENRKRQWPTKSQTDRGASAGKRRCFWLGMEGLETAEGSNSESSDDDSEEAPS
TSGMGFHAPKIGSNGVEMAAKFPSGSQRARVVNTDHGSPEQLQIPVTDSGRHILEDSCAE
LGESKEHMESRMVTETEETQEKKAESKEPIEEEPTGAGLNKDKETEERTDGERVAEVAPE
ERENVAVAKLQESQPGNAVIDKETIDLLAFTSVAELELLGLEKLKCELMALGLKCGGTLQ
ERAARLFSVRGLAKEQIDPALFAKPLKGKKK
Sequence length 451
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Download as csvDownload as pdf
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 Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for SDE2.

No additional diseases found yet through genes similar to SDE2.