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FLASH GENE

Symbol

PRDM8

contributors: mct - updated : 02-09-2020

HGNC name	PR domain containing 8
HGNC id	13993

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EPM10 epilepsy, progressive myoclonic, 10
Location	4q21.21      Physical location : 81.106.423 - 81.125.480
Genatlas name	positive regulatory domain family protein 8
Synonym name	PR-domain containing protein 8
Synonym symbol(s)	PFM5, EPM10, KMT8D

DNA

TYPE	functioning gene
STRUCTURE	20.92 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020226 10 - 4098 NP_064611 - 689 - 2016 26909595 NM_001099403 4 - 3130 NP_001092873 - 689 - 2016 26909595

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Homo sapiens   spinal cord         Homo sapiens Fetal Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual amacrine cell Homo sapiens Visual bipolar cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one SET domain

HOMOLOGY

Homologene

FAMILY

PR-domain protein family, PR (PRDI-BF1 and RIZ homology) domain protein family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	PRDM8 expression is tightly regulated in a spatio-temporal manner during neural development and mainly restricted to postmitotic neurons, except in the spinal cord (pMID: 19616129)
	PRDM8-mediated regulation of morphological changes that normally occur during the late and terminal multipolar phases plays an important role in neocortical development
	proper expression of PRDM8 is required for the normal development and construction of UL neurons in the mammalian neocortex
	critical role likely for DNA hydroxymethylation and methylation in regulating abnormal PRDM8 overexpression in Down syndrome (DS)
	is a key regulator in neural development and testis steroidogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	PRDM8 serves as a key regulator of the length of the multipolar phase by controlling the timing of morphological transition
	PRDM8 expression was almost coincident with UNC5D expression, a marker for the late multipolar phase
	through regulating NAP1L1, PRDM8 inhibits PI3K/AKT/mTOR signaling in Hepatocellular carcinoma (HCC)
	EBF3 is a PRDM8 target gene, and EBF3 is a key regulator of neuronal migration via multipolar-to-bipolar transition

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EPM10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   aberrant hypermethylation is particularly observed in PRDM8 in Dyskeratosis congenita (DKC)

Susceptibility

Variant & Polymorphism

Candidate gene	candidate gene for human CSNB
Marker	aberrant DNA methylation in PRDM8 provides another biomarker for bone marrow failure syndromes
Therapy target

ANIMAL & CELL MODELS