PRDM8 - PR/SET domain 8 Gene

Also Known as PFM5; EPM10; KMT8D

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56978

About PRDM8

Cytogenetic location: 4q21.21 Genomic coordinates (GRCh38): 4:80,185,270-80,204,329 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in prostate (RPKM 8.4), brain (RPKM 5.3) and 17 other tissues.

Summary

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]

PRDM8 Products (2)

mRNA Protein Name
NM_001099403.2 NP_001092873.1 PR domain zinc finger protein 8
NM_020226.4 NP_064611.3 PR domain zinc finger protein 8

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22961547 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
22961547 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

PR domain zinc finger protein 8

  • PR domain 8

Related Diseases

Diseases Alias
Epilepsy, Progressive Myoclonic, 10

  • EPM10

  • Epilepsy, Progressive Myoclonic 10

  • Early-Onset Lafora Body Disease
Progressive Myoclonus Epilepsy 10

  • Early-Onset Lafora Body Disease

  • Epm10
Progressive Myoclonus Epilepsy 6

  • Progressive Myoclonic Epilepsy Type 6

  • Epm6

  • Gosr2-Related Progressive Myoclonus Ataxia

  • North Sea Progressive Myoclonus Epilepsy

  • Pme Type 6

  • Progressive Myoclonus Epilepsy Type 6

  • Epilepsy, Progressive Myoclonic, 6
Progressive Myoclonus Epilepsy 1a

  • Epm1a
Progressive Myoclonus Epilepsy 1b

  • Epm1b
Dyskeratosis Congenita

  • Dyskeratosis Congenita Autosomal Dominant

  • Dc

  • Dkc

  • Zinsser-Engman-Cole Syndrome

  • Dyskeratosis Congenita, Autosomal Dominant

  • Autosomal Dominant Dyskeratosis Congenita

  • Dkca

  • Dyskeratosis Congenita Scoggins Type

  • Zinsser-Cole-Engman Syndrome

  • X-Linked Dyskeratosis Congenita

  • Hoyeraal-Hreidarsson Syndrome
Unverricht-Lundborg Syndrome

  • Unverricht-Lundborg Disease

  • Epm1

  • Myoclonic Epilepsy Of Unverricht And Lundborg

  • Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

  • Unverricht - Lundborg Disease

  • Unverricht'S Disease

  • Epilepsy, Progressive Myoclonic Type 1

  • Epilepsy, Progressive Myoclonus 1

  • Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

  • Baltic Myoclonic Epilepsy

  • Baltic Myoclonus

  • Baltic Myoclonus Epilepsy

  • Lundborg-Unverricht Syndrome

  • Mediterranean Myoclonic Epilepsy

  • Pme

  • Progressive Myoclonic Epilepsy

  • Progressive Myoclonus Epilepsy 1

  • Uld

  • Myoclonic Epilepsies, Progressive
Progressive Myoclonus Epilepsy 4

  • Action Myoclonus-Renal Failure Syndrome

  • Amrf

  • Epm4

  • Myoclonus-Nephropathy Syndrome
Myoclonic Epilepsy Of Lafora

  • Lafora Disease

  • Epilepsy, Progressive Myoclonic 2b

  • EPM2

  • Melf

  • Epilepsy, Progressive Myoclonic 2a

  • Epm2a

  • Lafora'S Disease

  • Lafora Body Disease

  • Lbd

  • Epilepsy, Progressive Myoclonic, 2a

  • Lafora Progressive Myoclonic Epilepsy

  • Epilepsy Progressive Myoclonic 2

  • Lafora Body Disorder

  • Pme Type 2

  • Progressive Myoclonic Epilepsy Type 2

  • Progressive Myoclonus Epilepsy Type 2

  • Epilepsy, Progressive Myoclonic 2

  • Epm2b

  • Ld

  • Progressive Myoclonic Epilepsy 2

  • Progressive Myoclonic Epilepsy 2a

  • Progressive Myoclonic Epilepsy 2b

  • Progressive Myoclonic Epilepsy Lafora Type

  • Epilepsy, Myoclonic, Of Lafora
Progressive Myoclonus Epilepsy

  • Pme

  • Progressive Myoclonic Epilepsy

  • Myoclonic Epilepsies, Progressive

  • Unverricht-Lundborg Syndrome
Myoclonic Epilepsy Associated With Ragged-Red Fibers

  • Merrf Syndrome

  • MERRF

  • Fukuhara Syndrome

  • Myoclonic Epilepsy Associated With Ragged Red Fibers

  • Myoencephalopathy Ragged-Red Fiber Disease

  • Myoclonic Epilepsy - Ragged Red Fibers

  • Myoclonus Epilepsy And Ragged Red Fibers

  • Myoclonus With Epilepsy And With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged Red Fibers

  • Myoclonic Epilepsy With Ragged-Red Fibers

  • Fukuhara Disease

  • Myoclonus Epilepsy Associated With Ragged-Red Fibres

  • Myoclonus With Epilepsy With Ragged Red Fibers
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11072 PRDM8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22741 Prdm8 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29255 Prdm8 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PRDM8 MGD MGI:1924880
Felis catus PRDM8 VGNC VGNC:107431
Macaca mulatta PRDM8 VGNC VGNC:76249
Rattus norvegicus PRDM8 RGD RGD:1311628
Canis familiaris PRDM8 VGNC VGNC:57409
Bos taurus PRDM8 VGNC VGNC:53772
Others PRDM8 NCBI