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Details of PSMB8 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PSMB8 | LMP7,PSMB5i,RING10,Y2 | P28062 | PSB8_HUMAN | 5696 | ENSG00000235715 ENSG00000230669 ENSG00000226201 ENSG00000231631 ENSG00000236443 ENSG00000230034 ENSG00000206298 ENSG00000204264 | Proteasome subunit beta type-8 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Nakajo syndrome (NKJO) [MIM:256040]: An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia. Note=The disease is caused by mutations affecting the gene represented in this entry. | 256040 | Note=Mutation Met-75 has been found in chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE syndrome). CANDLE patients have some overlapping features with NKJO patients, including a cutaneous eruption and lipodystrophy. They show a characteristic neutrophilic dermatosis with a mononuclear interstitial infiltrate in the dermis that seems pathognomonic for CANDLE syndrome (PubMed:21953331). | 256040 | ||||||
Phenotypes
Abnormal immunoglobulin level, Abnormality of adipose tissue, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of cardiovascular system physiology, Abnormality of cellular immune system, Abnormality of connective tissue, Abnormality of erythrocytes, Abnormality of globe size, Abnormality of head and neck, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of the cardiovascular system, Abnormality of the ear, Abnormality of the eye, Abnormality of the face, Abnormality of the head, Abnormality of the heart, Abnormality of the immune system, Abnormality of the integument, Abnormality of the ocular region, Abnormality of the orbital region, Abnormality of the outer ear, Abnormality of the pinna, Abnormality of the skin, Adipose tissue loss, All, Anemia, Autosomal recessive inheritance, Cardiomegaly, Congestive heart failure, Erythema, Generalized abnormality of skin, Growth abnormality, Hypergammaglobulinemia, Large eyes, Macrotia, Mode of inheritance, Phenotypic abnormality, Reduced subcutaneous adipose tissue, Vascular skin abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Psmb8 | Prosbeta5... | pbs-5 | SPU_014490 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PSMB8 | PSMC5 | 0.994771532 | PSMB8 | PSMC5 | cpx1 | no | yes | no | Known |
| PSMB8 | PSMA3 | 1 | PSMB8 | PSMA3 | cpx1 | no | yes | yes | Known |
| PSMB8 | PSMA4 | 1 | PSMB8 | PSMA4 | cpx1 | no | yes | yes | Known |
| PSMB8 | PSMB2 | 1 | PSMB8 | PSMB2 | cpx1 | no | yes | yes | Known |
| PSMB8 | PSMB3 | 1 | PSMB8 | PSMB3 | cpx1 | no | yes | yes | Known |
| PSMB8 | PSMB6 | 1 | PSMB8 | PSMB6 | cpx1 | no | yes | yes | Known |
| PSMD5 | PSMB8 | 0.533552883 | PSMD5 | PSMB8 | cpx1 | no | no | no | Novel |
| PSMD13 | PSMB8 | 0.817176029 | PSMD13 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMD12 | PSMB8 | 0.756506959 | PSMD12 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMC3 | PSMB8 | 0.999994244 | PSMC3 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMD11 | PSMB8 | 0.801766018 | PSMD11 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMA6 | PSMB8 | 1 | PSMA6 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMC6 | PSMB8 | 0.983229327 | PSMC6 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMA7 | PSMB8 | 1 | PSMA7 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMC1 | PSMB8 | 0.885413677 | PSMC1 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMB4 | PSMB8 | 1 | PSMB4 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMD6 | PSMB8 | 0.97143527 | PSMD6 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMD8 | PSMB8 | 0.364121155 | PSMD8 | PSMB8 | cpx1 | no | no | no | Novel |
| PSMA2 | PSMB8 | 1 | PSMA2 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMA1 | PSMB8 | 1 | PSMA1 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMD3 | PSMB8 | 0.738582418 | PSMD3 | PSMB8 | cpx1 | no | no | no | Novel |
| PSMA5 | PSMB8 | 1 | PSMA5 | PSMB8 | cpx1 | no | yes | yes | Known |
| ADRM1 | PSMB8 | 0.193100624 | ADRM1 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMC4 | PSMB8 | 0.991756845 | PSMC4 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMB1 | PSMB8 | 1 | PSMB1 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMD4 | PSMB8 | 0.621605816 | PSMD4 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMD7 | PSMB8 | 0.88710442 | PSMD7 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMD1 | PSMB8 | 0.946063161 | PSMD1 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMD14 | PSMB8 | 0.94300455 | PSMD14 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMC2 | PSMB8 | 0.787047687 | PSMC2 | PSMB8 | cpx1 | no | yes | no | Known |
| PSMB7 | PSMB8 | 1 | PSMB7 | PSMB8 | cpx1 | no | yes | yes | Known |
| PSMB8 | PSMD2 | 0.988295708 | PSMB8 | PSMD2 | cpx1 | no | yes | no | Known |