Gene Gene information from NCBI Gene database.
Entrez ID 56984
Gene name Proteasome assembly chaperone 2
Gene symbol PSMG2
Synonyms (NCBI Gene)
CLAST3HCCA3HsT1707MDS003PAC2PRAAS4TNFSF5IP1
Chromosome 18
Chromosome location 18p11.21
miRNA miRNA information provided by mirtarbase database.
56
miRTarBase ID miRNA Experiments Reference
MIRT051798 hsa-let-7c-5p CLASH 23622248
MIRT048483 hsa-miR-100-5p CLASH 23622248
MIRT079715 hsa-miR-548ag PAR-CLIP 20371350
MIRT079716 hsa-miR-548ai PAR-CLIP 20371350
MIRT079717 hsa-miR-548ba PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16251969, 25416956, 32296183, 33961781, 35271311, 35914814
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609702 24929 ENSG00000128789
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q969U7
Protein name Proteasome assembly chaperone 2 (PAC-2) (Hepatocellular carcinoma-susceptibility protein 3) (Tumor necrosis factor superfamily member 5-induced protein 1)
Protein function Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the hetero
PDB 8QYJ , 8QYL , 8QYM , 8QYN , 8QYS , 8QZ9 , 8TM3 , 8TM4 , 8TM5 , 8TM6 , 8YIX , 8YIY , 8YIZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09754 PAC2 17 228 PAC2 family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in lung, brain and colon. Moderately expressed in muscle, stomach, spleen and heart. Weakly expressed in small intestine, pancreas and liver. Highly expressed in hepatocellular carcinomas with low l
Sequence
Sequence length 264
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Proteasome-associated autoinflammatory syndrome 4 Pathogenic rs2040458488 RCV001291936
★★★★☆
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Aicardi Goutieres syndrome Associate 31874111
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 11854909
★☆☆☆☆
Found in Text Mining only
Hereditary Autoinflammatory Diseases Associate 30664889
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 11854909
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 11854909
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 36707884
★☆☆☆☆
Found in Text Mining only