DDI2 (DDI proteasomal shuttling factor 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 84301
Gene name DDI proteasomal shuttling factor 2
Gene symbol DDI2
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.21
miRNA miRNA information provided by mirtarbase database.
308
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (308)
miRTarBase ID miRNA Experiments Reference
MIRT047754 hsa-miR-7-5p CLASH 23622248
MIRT042045 hsa-miR-484 CLASH 23622248
MIRT524218 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT524217 hsa-miR-4491 HITS-CLIP 21572407
MIRT524216 hsa-miR-4657 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0004190 Function Aspartic-type endopeptidase activity IDA 27528193
GO:0004190 Function Aspartic-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 27528193, 29290612, 32814053
GO:0005654 Component Nucleoplasm IDA
GO:0005694 Component Chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620871 24578 ENSG00000197312
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TDH0
Protein name Protein DDI1 homolog 2 (EC 3.4.23.-)
Protein function Aspartic protease that mediates the cleavage of NFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1 from the endoplasmic reticulum membrane (PubMed:27528193, PubMed:27676298). Ubiquitination of NFE2L1/NRF1 is a prerequisite for cl
PDB 2N7D , 4RGH , 5K57
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00240 ubiquitin 6 → 79 Ubiquitin family Domain
PF09668 Asp_protease 212 → 335 Aspartyl protease Family
Sequence 
MLLTVYCVRRDLSEVTFSLQVDADFELHNFRALCELESGIPAAESQIVYAERPLTDNHRS
LASYGLKDGDVVILRQKENADPRPPVQFPNLPRIDFSSIAVPGTSSPRQRQPPGTQQSHS
SPGEITSSPQGLDNPALLRDMLLANPHELSLLKERNPPLAEALLSGDLEKFSRVLVEQQQ
DRARREQERIRLFSADPFDLEAQAKIEEDIRQQNIEENMTIAMEEAPESFGQVVMLYINC
KVNGHPVKAFVDSGAQMTIMSQACAERCNIMRLVDRRWAGIAKGVGTQKIIGRVHLAQVQ
IEGDFLPCSFSILEEQPMDMLLGLDMLKRHQCSIDLKKNVLVIGTTGSQTTFLPEGELPE
CARLAYGAGREDVRPEEIADQELAEALQKSAEDAERQKP
Sequence length 399
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Multiple Myeloma Multiple myeloma Pubtator 35589686 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Thyroid Carcinoma Anaplastic Thyroid cancer Pubtator 36232810 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only