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Aliases for PSMB8 Gene

Aliases for PSMB8 Gene

  • Proteasome Subunit Beta 8 2 3 5
  • Multicatalytic Endopeptidase Complex Subunit C13 3 4
  • Really Interesting New Gene 10 Protein 3 4
  • Low Molecular Mass Protein 7 3 4
  • Proteasome Component C13 3 4
  • Macropain Subunit C13 3 4
  • EC 3.4.25.1 4 61
  • PSMB5i 3 4
  • RING10 3 4
  • LMP7 3 4
  • Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Peptidase 7) 3
  • Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Protease 7) 2
  • Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 2
  • Large Multifunctional Peptidase 7 2
  • Proteasome Catalytic Subunit 3i 3
  • Low Molecular Weight Protein 7 3
  • Proteasome Subunit Beta Type-8 3
  • Proteasome Subunit Beta 5i 3
  • Proteasome Subunit Beta-5i 4
  • Proteasome-Related Gene 7 3
  • Protease Component C13 3
  • Proteasome Subunit Y2 3
  • D6S216E 3
  • D6S216 3
  • ALDD 3
  • NKJO 3
  • JMP 3
  • Y2 4

External Ids for PSMB8 Gene

Previous HGNC Symbols for PSMB8 Gene

  • LMP7

Previous GeneCards Identifiers for PSMB8 Gene

  • GC06M032805
  • GC06M032579
  • GC06M032855
  • GC06M032916
  • GC06M032808

Summaries for PSMB8 Gene

Entrez Gene Summary for PSMB8 Gene

  • The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]

GeneCards Summary for PSMB8 Gene

PSMB8 (Proteasome Subunit Beta 8) is a Protein Coding gene. Diseases associated with PSMB8 include Autoinflammation, Lipodystrophy, And Dermatosis Syndrome and Nakajo Syndrome. Among its related pathways are Interferon gamma signaling and RET signaling. GO annotations related to this gene include threonine-type endopeptidase activity. An important paralog of this gene is PSMB5.

UniProtKB/Swiss-Prot for PSMB8 Gene

  • The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes.

Gene Wiki entry for PSMB8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMB8 Gene

Genomics for PSMB8 Gene

Regulatory Elements for PSMB8 Gene

Enhancers for PSMB8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F033026 1.5 FANTOM5 Ensembl ENCODE 10.6 -184.7 -184707 5.5 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 RAD21 RFX5 ZNF121 ZNF366 EGR1 HLA-DMA HLA-DQB1 HLA-DPA1 HLA-DPB1 HLA-DQB2 HLA-DQA2 HLA-DOA PSMB8 HLA-DMB TAPBP
GH06F032851 1.5 FANTOM5 ENCODE 10.1 -9.0 -8972 5.2 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 PSMB9 TAP1 BRD2 RING1 VPS52 ZBTB12 LEMD2 EHMT2 PSMB8 MIR5004
GH06F032435 1.4 FANTOM5 ENCODE 10.1 +405.5 405498 7.5 HDGF TBP PKNOX1 ATF1 TBL1XR1 WRNIP1 SIN3A BMI1 RFX5 YY1 HLA-DRB1 HLA-DQB1 HLA-DRB5 HLA-DQA2 HLA-DRB6 C4A HLA-DQA1 HLA-DQB1-AS1 HLA-DRA PSMB8
GH06F032602 1.7 FANTOM5 Ensembl ENCODE 7.9 +237.8 237763 10.3 HDGF PKNOX1 ATF1 ZNF143 FOS ZNF263 NFYC JUNB TBX21 ZNF518A HLA-DRB1 HLA-DRB5 HLA-DQA1 HLA-DQA2 HLA-DRB6 C4A HLA-DQB2 HLA-DOB HLA-DQB1 HLA-DMA
GH06F032965 1.2 ENCODE 11.1 -125.7 -125734 10.4 CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 NFYC BRD2 VPS52 ATF6B LEMD2 RING1 RXRB DAXX MIR6873 HCG25 PPT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSMB8 on UCSC Golden Path with GeneCards custom track

Promoters for PSMB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000025364 535 2801 HDGF ATF1 WRNIP1 SIN3A ARID4B DMAP1 BRCA1 YY1 ZNF143 ZNF263

Transcription factor binding sites by QIAGEN in the PSMB8 gene promoter:

Genomic Location for PSMB8 Gene

Chromosome:
6
Start:
32,840,717 bp from pter
End:
32,844,935 bp from pter
Size:
4,219 bases
Orientation:
Minus strand

Genomic View for PSMB8 Gene

Genes around PSMB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PSMB8 Gene

  • Protein details for PSMB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28062-PSB8_HUMAN
    Recommended name:
    Proteasome subunit beta type-8
    Protein Accession:
    P28062
    Secondary Accessions:
    • B0UZC0
    • Q29824
    • Q5JNW6
    • Q5QNR8
    • Q96J48

    Protein attributes for PSMB8 Gene

    Size:
    276 amino acids
    Molecular mass:
    30354 Da
    Quaternary structure:
    • The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Component of the immunoproteasome, where it displaces the equivalent housekeeping subunit PSMB5. Component of the spermatoproteasome, a form of the proteasome specifically found in testis. Directly interacts with POMP. Interacts with HIV-1 TAT protein. Interacts with TAP1.

    Alternative splice isoforms for PSMB8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMB8 Gene

Selected DME Specific Peptides for PSMB8 Gene

P28062:
  • HGTTTLAF
  • GPGLYYVD
  • ISVSAASK
  • KVIEINP

Post-translational modifications for PSMB8 Gene

  • Autocleaved. The resulting N-terminal Thr residue of the mature subunit is responsible for the nucleophile proteolytic activity.
  • Ubiquitination at Lys 153, Lys 179, and Lys 252
  • Modification sites at PhosphoSitePlus

Other Protein References for PSMB8 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PSMB8 (PSMB8)
  • Cloud-Clone Corp. Antibodies for PSMB8

Domains & Families for PSMB8 Gene

Gene Families for PSMB8 Gene

Suggested Antigen Peptide Sequences for PSMB8 Gene

Graphical View of Domain Structure for InterPro Entry

P28062

UniProtKB/Swiss-Prot:

PSB8_HUMAN :
  • Belongs to the peptidase T1B family.
Family:
  • Belongs to the peptidase T1B family.
genes like me logo Genes that share domains with PSMB8: view

Function for PSMB8 Gene

Molecular function for PSMB8 Gene

GENATLAS Biochemistry:
multicatalytic proteinase complex (20S) proteasome (prosome,macropain) component 7,beta-type subunit,stimulated by interferon gamma,involved in the degradation of cytoplasmic antigens for MHC class I antigen presentation pathways
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of peptide bonds with very broad specificity.
UniProtKB/Swiss-Prot Function:
The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Acts as a major component of interferon gamma-induced sensitivity. Plays a key role in apoptosis via the degradation of the apoptotic inhibitor MCL1. May be involved in the inflammatory response pathway. In cancer cells, substitution of isoform 1 (E2) by isoform 2 (E1) results in immunoproteasome deficiency. Required for the differentiation of preadipocytes into adipocytes.
UniProtKB/Swiss-Prot Induction:
Up-regulated by IFNG/IFN-gamma and IRF1 (at protein level). Up-regulated by TNF (at protein level). Up-regulated by tetrodotoxin (TTX) in glial cells. Up-regulated in Crohns bowel disease (CD). Down-regulated by the selective inhibitor PR-957. Down-regulated in mature dendritic cells by HSV-1 infection. Up-regulated by heat shock treatment.

Enzyme Numbers (IUBMB) for PSMB8 Gene

Gene Ontology (GO) - Molecular Function for PSMB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0004298 threonine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 15303969
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PSMB8: view
genes like me logo Genes that share phenotypes with PSMB8: view

Human Phenotype Ontology for PSMB8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PSMB8 Gene

MGI Knock Outs for PSMB8:

Animal Model Products

miRNA for PSMB8 Gene

miRTarBase miRNAs that target PSMB8

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PSMB8 Gene

Localization for PSMB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSMB8 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PSMB8 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for PSMB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IDA,TAS 26524591
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PSMB8: view

Pathways & Interactions for PSMB8 Gene

SuperPathways for PSMB8 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
.32
2 RET signaling
3 Chks in Checkpoint Regulation
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMB8: view

Pathways by source for PSMB8 Gene

1 Sino Biological pathway for PSMB8 Gene
1 Cell Signaling Technology pathway for PSMB8 Gene
1 BioSystems pathway for PSMB8 Gene
1 KEGG pathway for PSMB8 Gene
1 GeneGo (Thomson Reuters) pathway for PSMB8 Gene

Gene Ontology (GO) - Biological Process for PSMB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002376 immune system process IEA --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
genes like me logo Genes that share ontologies with PSMB8: view

No data available for SIGNOR curated interactions for PSMB8 Gene

Drugs & Compounds for PSMB8 Gene

(18) Drugs for PSMB8 Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
carfilzomib Approved Pharma other, Inhibitor, Target Other, 20S Proteasome Inhibitor 0
Bortezomib Approved, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 794
Kyprolis Approved July 2012 Pharma 0
AM 114 Pharma 20S proteasome inhibitor 0
Bortezomib (PS-341) Pharma Proteasome Inhibitor 0

(14) ApexBio Compounds for PSMB8 Gene

Compound Action Cas Number
AM 114 20S proteasome inhibitor 856849-35-9
Bortezomib (PS-341) Proteasome Inhibitor 179324-69-7
Carfilzomib (PR-171) Proteasome inhibitor,epoxomicin analog 868540-17-4
Celastrol Antioxidant, anti-inflammatory and immunosuppressive agent 34157-83-0
CEP-18770 Proteasome inhibitor 847499-27-8
Dihydroeponemycin Proteasome inhibitor,antitumor reagent,eponemycin ddrivative 126463-64-7
Epoxomicin Proteasome inhibitor 134381-21-8
MG-132 Proteasome inhibitor, Cell permeable, reversible 133407-82-6
MLN2238 β5 site of the 20S proteasome inhibitor 1072833-77-2
MLN9708 Proteasome inhibitor 1201902-80-8
ONX-0914 (PR-957) Immunoproteasome inhibitor,potent and selective 960374-59-8
Oprozomib (ONX-0912) Proteasome inhibitor 935888-69-0
PI-1840 Chymotrypsin-like (CT-L) inhibitor 1401223-22-0
PSI Proteasome inhibitor 158442-41-2
genes like me logo Genes that share compounds with PSMB8: view

Transcripts for PSMB8 Gene

Unigene Clusters for PSMB8 Gene

Proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSMB8 Gene

No ASD Table

Relevant External Links for PSMB8 Gene

GeneLoc Exon Structure for
PSMB8
ECgene alternative splicing isoforms for
PSMB8

Expression for PSMB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMB8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMB8 Gene

This gene is overexpressed in Whole Blood (x6.8).

Protein differential expression in normal tissues from HIPED for PSMB8 Gene

This gene is overexpressed in Liver, secretome (13.0), Tlymphocyte (7.3), and Lymph node (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSMB8 Gene



Protein tissue co-expression partners for PSMB8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMB8 Gene:

PSMB8

SOURCE GeneReport for Unigene cluster for PSMB8 Gene:

Hs.180062
genes like me logo Genes that share expression patterns with PSMB8: view

No data available for mRNA Expression by UniProt/SwissProt for PSMB8 Gene

Orthologs for PSMB8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PSMB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMB8 34 35
  • 98.91 (n)
cow
(Bos Taurus)
Mammalia PSMB8 34 35
  • 87.2 (n)
dog
(Canis familiaris)
Mammalia PSMB8 34 35
  • 87.08 (n)
rat
(Rattus norvegicus)
Mammalia Psmb8 34
  • 84.12 (n)
mouse
(Mus musculus)
Mammalia Psmb8 34 16 35
  • 84.06 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMB8 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PSMB8 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PSMB8 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmb8 34
  • 67.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.162 34
zebrafish
(Danio rerio)
Actinopterygii psmb8 34 35
  • 64.93 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8289 34
fruit fly
(Drosophila melanogaster)
Insecta Prosbgr5 36
  • 52 (a)
CG9868 36
  • 51 (a)
Prosbeta5 35
  • 49 (a)
ManyToMany
CG31742 35
  • 40 (a)
ManyToMany
Prosbeta5R 35
  • 37 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pbs-5 35
  • 38 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL326C 34
  • 56.5 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRE2 34 35
  • 54.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F08228g 34
  • 51.63 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09309 34
  • 58.7 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8465 35
  • 56 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pts1 34
  • 54.66 (n)
Species where no ortholog for PSMB8 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PSMB8 Gene

ENSEMBL:
Gene Tree for PSMB8 (if available)
TreeFam:
Gene Tree for PSMB8 (if available)

Paralogs for PSMB8 Gene

Paralogs for PSMB8 Gene

(3) SIMAP similar genes for PSMB8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PSMB8: view

Variants for PSMB8 Gene

Sequence variations from dbSNP and Humsavar for PSMB8 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs387906680 Nakajo syndrome (NKJO) [MIM:256040], Pathogenic 32,841,671(-) CACGG(A/G/T)TAGTG reference, missense
rs748082671 Nakajo syndrome (NKJO) [MIM:256040] 32,843,013(+) CGAGC(A/G)TGGTG upstream-variant-2KB, reference, missense
VAR_075257 Nakajo syndrome (NKJO) [MIM:256040]
rs1053752 -- 32,846,350(+) ggccc(A/G)gtggc intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1057373 -- 32,845,502(-) GAGTA(G/T)GCAGC nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PSMB8 Gene

Variant ID Type Subtype PubMed ID
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv830633 CNV loss 17160897

Variation tolerance for PSMB8 Gene

Residual Variation Intolerance Score: 55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.65; 82.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMB8 Gene

Human Gene Mutation Database (HGMD)
PSMB8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMB8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMB8 Gene

Disorders for PSMB8 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PSMB8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoinflammation, lipodystrophy, and dermatosis syndrome
  • jmp syndrome
nakajo syndrome
  • nodular erythema digital changes
cardiac sarcoidosis
microcytic anemia
  • iron-refractory iron deficiency anemia
panniculitis
- elite association - COSMIC cancer census association via MalaCards
Search PSMB8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PSB8_HUMAN
  • 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. {ECO:0000269 PubMed:21129723, ECO:0000269 PubMed:21852578, ECO:0000269 PubMed:21881205, ECO:0000269 PubMed:21953331, ECO:0000269 PubMed:26524591, ECO:0000269 PubMed:26567544}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PSMB8

Genetic Association Database (GAD)
PSMB8
Human Genome Epidemiology (HuGE) Navigator
PSMB8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMB8
genes like me logo Genes that share disorders with PSMB8: view

No data available for Genatlas for PSMB8 Gene

Publications for PSMB8 Gene

  1. PSMB8 (LMP7) but not PSMB9 (LMP2) gene polymorphisms are associated to pigeon breeder's hypersensitivity pneumonitis. (PMID: 20153157) Camarena A. … Selman M. (Respir Med 2010) 3 22 46 64
  2. Herpes simplex virus type I infection of mature dendritic cells leads to reduced LMP7-mRNA-expression levels. (PMID: 19619915) Eisemann J. … Kummer M. (Immunobiology 2009) 3 4 22 64
  3. Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma. (PMID: 19202550) Mehta A.M. … Jan Fleuren G. (Genes Chromosomes Cancer 2009) 3 22 46 64
  4. Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis. (PMID: 19404951) Maksymowych W.P. … Rahman P. (Arthritis Rheum. 2009) 3 22 46 64
  5. [Allele polymorphism of genes coding proteasome subunits is associated with an enhanced risk for arterial hypertension in adolescents]. (PMID: 19526842) Goncharov S.V. … MoA-benko A.A. (Fiziol Zh 2009) 3 22 46 64

Products for PSMB8 Gene