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The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 n... See more...
Aliases for PSMD8 Gene
Aliases for PSMD8 Gene
External Ids for PSMD8 Gene
- HGNC: 9566
- NCBI Entrez Gene: 5714
- Ensembl: ENSG00000099341
- OMIM®: 617844
- UniProtKB/Swiss-Prot: P48556
Previous GeneCards Identifiers for PSMD8 Gene
- GC19P039479
- GC19P039256
- GC19P043541
- GC19P043558
- GC19P043559
- GC19P043560
- GC19P038865
- GC19P035312
Summaries for PSMD8 Gene
-
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
GeneCards Summary for PSMD8 Gene
PSMD8 (Proteasome 26S Subunit, Non-ATPase 8) is a Protein Coding gene. Diseases associated with PSMD8 include Cystic Fibrosis. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and CDK-mediated phosphorylation and removal of Cdc6.
UniProtKB/Swiss-Prot Summary for PSMD8 Gene
-
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.
Additional gene information for PSMD8 Gene
- HGNC (9566)
- NCBI Entrez Gene (5714)
- Ensembl (ENSG00000099341)
- OMIM® (617844)
- UniProtKB/Swiss-Prot (P48556)
- Open Targets Platform(ENSG00000099341)
- Monarch Initiative
- Search for PSMD8 at DataMed
- Search for PSMD8 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSMD8 Gene
Genomics for PSMD8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PSMD8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PSMD8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSMD8
- Top Transcription factor binding sites by QIAGEN in the PSMD8 gene promoter:
-
- AhR
- Arnt
- CBF(2)
- CBF-A
- CBF-B
- Elk-1
- FOXD1
- NRF-2
- Pax-5
- Pax-6
Genomic Locations for PSMD8 Gene
Latest Assembly
- chr19:38,374,550-38,383,824
- (GRCh38/hg38)
- Size:
- 9,275 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:38,865,211-38,874,464
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 9,254 bases
- Orientation:
- Plus strand
- chr19:38,865,176-38,874,464
- (GRCh37/hg19 by Ensembl)
- Size:
- 9,289 bases
- Orientation:
- Plus strand
Genomic View for PSMD8 Gene
Genes around PSMD8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.2 by HGNC
- 19q13.2 by Entrez Gene
- 19q13.2 by Ensembl
PSMD8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PSMD8 Gene
Proteins for PSMD8 Gene
-
Protein details for PSMD8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48556-PSMD8_HUMAN
- Recommended name:
- 26S proteasome non-ATPase regulatory subunit 8
- Protein Accession:
- P48556
- B4DX18
- Q6P1L7
Protein attributes for PSMD8 Gene
- Size:
- 350 amino acids
- Molecular mass:
- 39612 Da
- Quaternary structure:
-
- Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD8, a base containing 6 ATPases and few additional components. Interacts with DDI2 (PubMed:29290612). Interacts with TASOR (By similarity).
- SequenceCaution:
-
- Sequence=AAC62833.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH01164.3; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH65006.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA07237.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for PSMD8 Gene
Post-translational modifications for PSMD8 Gene
Other Protein References for PSMD8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for PSMD8
-
Abcam antibodies for PSMD8
- Invitrogen Antibodies for PSMD8 (AFLGC-PSMD8)
-
Boster Bio Antibodies for PSMD8
-
Santa Cruz Biotechnology (SCBT) Antibodies for PSMD8
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PSMD8
- Origene Custom Protein Services for PSMD8
-
Abcam proteins for PSMD8
Assay products for research
No data available for DME Specific Peptides for PSMD8 Gene
Domains & Families for PSMD8 Gene
Gene Families for PSMD8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for PSMD8 Gene
- InterPro:
- Blocks:
-
- 26S proteasome non-ATPase regulatory subunit Nin1/mts3
- ProtoNet:
Suggested Antigen Peptide Sequences for PSMD8 Gene
- GenScript: Design optimal peptide antigens:
-
- p31 (PSMD8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P48556- Family:
-
- Belongs to the proteasome subunit S14 family.
Function for PSMD8 Gene
Molecular function for PSMD8 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.
Phenotypes From GWAS Catalog for PSMD8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 29290612 |
Phenotypes for PSMD8 Gene
- GenomeRNAi human phenotypes for PSMD8:
-
- Increased gamma-H2AX phosphorylation
- Decreased hepcidin::fluc mRNA expression
- Decreased viability
- no effect
- FOXO1 nuclear localization
- Increased shRNA abundance (Z-score > 2)
- Decreased cell number
- Effect on mitosis
- Decreased shRNA abundance (Z-score < -2)
- Inconclusive
- Decreased homologous recombination repair frequency
- Increased cell death HMECs cells
- Synthetic lethal with vaccinia virus (VACV) infection
- Increased CFP-tsO45G cell surface transport
- Decreased viability of wild-type and TP53 knockout cells
- Decreased Sindbis virus (SINV) infection
- HIV Rev nuclear localization
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PSMD8 - Starting at $85 >
- * PSMD8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PSMD8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMD8
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMD8
miRNA for PSMD8 Gene
- miRTarBase miRNAs that target PSMD8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMD8
- Browse OriGene Inhibitory RNA Products For PSMD8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD8
Clone products for research
- Applied Biological Materials (abm): Clones for PSMD8 - Starting at $45 >
- * PSMD8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG203305
- MG203313
- MG222036
- MR203305
- MR203305L3
- MR203305L4
- MR203313
- MR203313L3
- MR203313L4
- MR222036
- MR222036L3
- MR222036L4
- RC200436
- RC200436L1
- RC200436L2
- RC200436L3
- RC200436L4
- RG200436
- RR203794
- RR203794L3
- RR203794L4
- MR203305L3V
- MR203305L4V
- MR203313L3V
- MR203313L4V
- MR222036L3V
- MR222036L4V
- RC200436L1V
- RC200436L2V
- RC200436L3V
- RC200436L4V
- RR203794L3V
- RR203794L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PSMD8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMD8
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD8 Gene
Localization for PSMD8 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
| golgi apparatus | 0 |
- Cytosol (2)
- Nuclear speckles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000502 | proteasome complex | TAS,IDA | 17323924 |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005838 | proteasome regulatory particle | TAS | 7621825 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD8 Gene
Pathways & Interactions for PSMD8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.80
.78
.70
.47
.31
|
| 2 | RET signaling |
.92
|
.92
|
| 3 | HIV Life Cycle |
.64
|
.45
|
| 4 | Pathways of neurodegeneration - multiple diseases | ||
| 5 | Class I MHC mediated antigen processing and presentation | ||
Pathways by source for PSMD8 Gene
1 Sino Biological pathway for PSMD8 Gene
2 BioSystems pathways for PSMD8 Gene
9 KEGG pathways for PSMD8 Gene
3 GeneGo (Thomson Reuters) pathways for PSMD8 Gene
- Immune response Antigen presentation by MHC class I
- Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
- Transcription Ligand-Dependent Transcription of Retinoid-Target genes
2 Qiagen pathways for PSMD8 Gene
- RAR-Gamma-RXR-Alpha Degradation
- Remodeling of Adherens Junctions
Interacting Proteins for PSMD8 Gene
Selected Interacting proteins:
P48556-PSMD8_HUMAN
ENSP00000215071
for PSMD8 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PSMD8
| 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:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
| GO:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for PSMD8 Gene
Drugs & Compounds for PSMD8 Gene
Transcripts for PSMD8 Gene
mRNA/cDNA for PSMD8 Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000215071 1518 nts (view in UCSC)
- ENST00000585598 541 nts (view in UCSC)
- ENST00000590331 422 nts (view in UCSC)
- ENST00000591216 611 nts (view in UCSC)
- ENST00000591250 578 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PSMD8 - Starting at $85 >
- * PSMD8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PSMD8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSMD8
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSMD8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSMD8
- Browse OriGene Inhibitory RNA Products For PSMD8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSMD8
Clone products for research
- Applied Biological Materials (abm): Clones for PSMD8 - Starting at $45 >
- * PSMD8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG203305
- MG203313
- MG222036
- MR203305
- MR203305L3
- MR203305L4
- MR203313
- MR203313L3
- MR203313L4
- MR222036
- MR222036L3
- MR222036L4
- RC200436
- RC200436L1
- RC200436L2
- RC200436L3
- RC200436L4
- RG200436
- RR203794
- RR203794L3
- RR203794L4
- MR203305L3V
- MR203305L4V
- MR203313L3V
- MR203313L4V
- MR222036L3V
- MR222036L4V
- RC200436L1V
- RC200436L2V
- RC200436L3V
- RC200436L4V
- RR203794L3V
- RR203794L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PSMD8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSMD8
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||
| SP7: |
Relevant External Links for PSMD8 Gene
- GeneLoc Exon Structure for
- PSMD8
Expression for PSMD8 Gene
mRNA differential expression in normal tissues according to GTEx for PSMD8 Gene
This gene is overexpressed in Muscle - Skeletal (x4.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PSMD8 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSMD8
SOURCE GeneReport for Unigene cluster for PSMD8 Gene:
Hs.78466Evidence on tissue expression from TISSUES for PSMD8 Gene
- Skin(4.7)
- Muscle(4.6)
- Blood(4.4)
- Nervous system(4.2)
- Intestine(3.9)
- Lung(3.9)
- Pancreas(2.8)
- Liver(2.6)
- Heart(2.5)
- Kidney(2.3)
- Thyroid gland(2.1)
Primer products for research
-
OriGene qPCR primer pairs for PSMD8
-
OriGene qPCR primer pairs and template standards for PSMD8
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSMD8 Gene
Orthologs for PSMD8 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PSMD8 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Cow (Bos Taurus) |
Mammalia | PSMD8 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PSMD8 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Psmd8 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Psmd8 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PSMD8 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PSMD8 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3601 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | psmd8 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9469 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002606 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rpn12 30 31 32 |
|
OneToMany | |
| Rpn12R 31 |
|
OneToMany | |||
| CG11552 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | rpn-12 30 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR278W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RPN12 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D11374g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RPN12a 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0435100 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU10067 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rpn12 30 |
|
- Species where no ortholog for PSMD8 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- 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 Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for PSMD8 Gene
- ENSEMBL:
- Gene Tree for PSMD8 (if available)
- TreeFam:
- Gene Tree for PSMD8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PSMD8: view image
Paralogs for PSMD8 Gene
(3) SIMAP similar genes for PSMD8 Gene using alignment to 7 proteins:
- PSMD8_HUMAN
- K7EJC1_HUMAN
- K7EJR3_HUMAN
- K7EK21_HUMAN
- K7ENY6_HUMAN
- K7ERW6_HUMAN
- R4GMR5_HUMAN
Pseudogenes.org Pseudogenes for PSMD8 Gene
No data available for Paralogs for PSMD8 Gene
Variants for PSMD8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSMD8 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs141504927 | Benign: not provided | 38,380,925(+) |
A/G NM_002812.4(PSMD8):c.729A>G (p.Lys243=) |
SYNONYMOUS | |
| rs201665089 | Benign: not provided | 38,374,779(+) |
G/A NM_002812.4(PSMD8):c.178G>A (p.Ala60Thr) |
MISSENSE | |
| rs28384479 | Benign: not provided | 38,374,946(+) |
G/A NM_002812.4(PSMD8):c.345G>A (p.Glu115=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Gene Damage Index Score:
1.56;
30.18% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PSMD8 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PSMD8
