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Aliases for PRDM8 Gene

Aliases for PRDM8 Gene

  • PR Domain 8 2 3
  • PR Domain Containing 8 2 5
  • PFM5 3 4
  • PR-Domain Containing Protein 8 3
  • PR Domain-Containing Protein 8 4
  • EC 2.1.1.- 4
  • EPM10 3

External Ids for PRDM8 Gene

Previous GeneCards Identifiers for PRDM8 Gene

  • GC04P080993
  • GC04P081391
  • GC04P081498
  • GC04P081564
  • GC04P081565
  • GC04P081462
  • GC04P081325
  • GC04P081107
  • GC04P076850

Summaries for PRDM8 Gene

Entrez Gene Summary for PRDM8 Gene

  • This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for PRDM8 Gene

PRDM8 (PR Domain 8) is a Protein Coding gene. Diseases associated with PRDM8 include epilepsy, progressive myoclonic 10 and early-onset lafora body disease. GO annotations related to this gene include chromatin binding and histone methyltransferase activity. An important paralog of this gene is ZNF488.

UniProtKB/Swiss-Prot for PRDM8 Gene

  • Probable histone methyltransferase, preferentially acting on Lys-9 of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRDM8 Gene

Genomics for PRDM8 Gene

Regulatory Elements for PRDM8 Gene

Enhancers for PRDM8 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRDM8 on UCSC Golden Path with GeneCards custom track

Promoters for PRDM8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRDM8 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRDM8 Gene

Chromosome:
4
Start:
80,183,741 bp from pter
End:
80,204,329 bp from pter
Size:
20,589 bases
Orientation:
Plus strand

Genomic View for PRDM8 Gene

Genes around PRDM8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRDM8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRDM8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRDM8 Gene

Proteins for PRDM8 Gene

  • Protein details for PRDM8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQV8-PRDM8_HUMAN
    Recommended name:
    PR domain zinc finger protein 8
    Protein Accession:
    Q9NQV8
    Secondary Accessions:
    • A8K7X2
    • Q6IQ36

    Protein attributes for PRDM8 Gene

    Size:
    689 amino acids
    Molecular mass:
    71663 Da
    Quaternary structure:
    • Interacts with EPM2A and NHLRC1. This interaction sequesters EPM2A and NHLRC1 to the nucleus (PubMed:22961547). Interacts with BHLHE22 (By similarity).
    SequenceCaution:
    • Sequence=AAF87241.1; Type=Frameshift; Positions=287; Evidence={ECO:0000305};

    Alternative splice isoforms for PRDM8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRDM8 Gene

Proteomics data for PRDM8 Gene at MOPED

Post-translational modifications for PRDM8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRDM8 Gene

No data available for DME Specific Peptides for PRDM8 Gene

Domains & Families for PRDM8 Gene

Gene Families for PRDM8 Gene

Protein Domains for PRDM8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRDM8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NQV8

UniProtKB/Swiss-Prot:

PRDM8_HUMAN :
  • Contains 1 SET domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
  • Contains 3 C2H2-type zinc fingers.
Domain:
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily.
Similarity:
  • Contains 3 C2H2-type zinc fingers.
genes like me logo Genes that share domains with PRDM8: view

Function for PRDM8 Gene

Molecular function for PRDM8 Gene

UniProtKB/Swiss-Prot Function:
Probable histone methyltransferase, preferentially acting on Lys-9 of histone H3 (By similarity). Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity). Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity). In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity).

Enzyme Numbers (IUBMB) for PRDM8 Gene

Gene Ontology (GO) - Molecular Function for PRDM8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with PRDM8: view
genes like me logo Genes that share phenotypes with PRDM8: view

Animal Models for PRDM8 Gene

MGI Knock Outs for PRDM8:

Animal Model Products

miRNA for PRDM8 Gene

miRTarBase miRNAs that target PRDM8

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PRDM8 Gene

Localization for PRDM8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRDM8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRDM8 Gene COMPARTMENTS Subcellular localization image for PRDM8 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for PRDM8 Gene

Pathways & Interactions for PRDM8 Gene

SuperPathways for PRDM8 Gene

No Data Available

Interacting Proteins for PRDM8 Gene

Gene Ontology (GO) - Biological Process for PRDM8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014003 oligodendrocyte development IBA --
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with PRDM8: view

No data available for Pathways by source and SIGNOR curated interactions for PRDM8 Gene

Drugs & Compounds for PRDM8 Gene

No Compound Related Data Available

Transcripts for PRDM8 Gene

Unigene Clusters for PRDM8 Gene

PR domain containing 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRDM8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: -
SP2: - - - - - -
SP3: -
SP4: - - - - - -
SP5:
SP6: - - - - - - - -
SP7: - - - - - - -

Relevant External Links for PRDM8 Gene

GeneLoc Exon Structure for
PRDM8
ECgene alternative splicing isoforms for
PRDM8

Expression for PRDM8 Gene

mRNA expression in normal human tissues for PRDM8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRDM8 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.7) and Retina (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRDM8 Gene



SOURCE GeneReport for Unigene cluster for PRDM8 Gene Hs.373642

mRNA Expression by UniProt/SwissProt for PRDM8 Gene

Q9NQV8-PRDM8_HUMAN
Tissue specificity: Expressed in brain, heart, skeletal muscle, testes, prostate.
genes like me logo Genes that share expression patterns with PRDM8: view

Protein tissue co-expression partners for PRDM8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PRDM8 Gene

Orthologs for PRDM8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRDM8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PRDM8 35
  • 91.87 (n)
  • 95.45 (a)
PRDM8 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRDM8 35
  • 89.35 (n)
  • 90.79 (a)
PRDM8 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prdm8 35
  • 84.93 (n)
  • 88.63 (a)
Prdm8 16
Prdm8 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PRDM8 35
  • 97.93 (n)
  • 97.55 (a)
PRDM8 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prdm8 35
  • 84.61 (n)
  • 87.17 (a)
oppossum
(Monodelphis domestica)
Mammalia PRDM8 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRDM8 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRDM8 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRDM8 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prdm8 35
  • 63.62 (n)
  • 67.93 (a)
zebrafish
(Danio rerio)
Actinopterygii prdm8b 35
  • 64.31 (n)
  • 67.26 (a)
prdm8b 36
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13287 36
  • 21 (a)
OneToMany
Species with no ortholog for PRDM8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PRDM8 Gene

ENSEMBL:
Gene Tree for PRDM8 (if available)
TreeFam:
Gene Tree for PRDM8 (if available)

Paralogs for PRDM8 Gene

Paralogs for PRDM8 Gene

genes like me logo Genes that share paralogs with PRDM8: view

Variants for PRDM8 Gene

Sequence variations from dbSNP and Humsavar for PRDM8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_075044 Epilepsy, progressive myoclonic 10 (EPM10)
rs12780 -- 80,203,442(-) CGCCG(C/G)CGCTT reference, synonymous-codon
rs1139248 -- 80,200,086(+) ATGGA(C/G/T)GATAC reference, missense
rs930904 -- 80,199,018(+) TTTTT(A/T)AGTGA intron-variant
rs1458044 -- 80,196,607(+) GTAAT(A/C)ATTTT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PRDM8 Gene

Variant ID Type Subtype PubMed ID
esv29411 CNV Loss 19812545

Variation tolerance for PRDM8 Gene

Residual Variation Intolerance Score: 33.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRDM8 Gene

HapMap Linkage Disequilibrium report
PRDM8
Human Gene Mutation Database (HGMD)
PRDM8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRDM8 Gene

Disorders for PRDM8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PRDM8 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 10
  • early-onset lafora body disease
early-onset lafora body disease
progressive myoclonus epilepsy
  • unverricht-lundborg syndrome
unverricht-lundborg syndrome
  • unverricht - lundborg disease
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards
Search PRDM8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRDM8_HUMAN
  • Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640]: A progressive myoclonus epilepsy characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients. {ECO:0000269 PubMed:22961547}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRDM8

Genetic Association Database (GAD)
PRDM8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRDM8
genes like me logo Genes that share disorders with PRDM8: view

No data available for Genatlas for PRDM8 Gene

Publications for PRDM8 Gene

  1. Early-onset Lafora body disease. (PMID: 22961547) Turnbull J. … Minassian B.A. (Brain 2012) 3 4 67
  2. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3
  3. Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity. (PMID: 26023183) Jung C.C. … McInnes R.R. (Proc. Natl. Acad. Sci. U.S.A. 2015) 3
  4. Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. (PMID: 24954895) Simino J. … Rao D.C. (Am. J. Hum. Genet. 2014) 3
  5. Genome-wide association study identifies eight loci associated with blood pressure. (PMID: 19430483) Newton-Cheh C. … Munroe P.B. (Nat. Genet. 2009) 3

Products for PRDM8 Gene

Sources for PRDM8 Gene

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