PRDM8 - PR/SET domain 8 Gene

Homo sapiens

Also known as PFM5; EPM10; KMT8D

Gene ID: 56978 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22961547	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11072	PRDM8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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