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FLASH GENE

Symbol

PRDM13

contributors: mct - updated : 18-05-2022

HGNC name	PR domain containing 13
HGNC id	13998

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDIDHH cerebellar dysfunction, impaired intellectual development, with hypogonadotropic hypogonadism or not MCDR1 macular dystrophy, retinal 1, North Carolina type
Location	6q16.2      Physical location : 100.054.649 - 100.063.454
Genatlas name	positive regulatory domain family protein 13
Synonym name	PR-domain zinc finger protein 13
Synonym symbol(s)	PFM10, MU-MB-20.220, CDIDHH

DNA

TYPE	functioning gene
STRUCTURE	8.73 kb     4 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_021620 4 - 3129 NP_067633 - 707 - 2015 25546159

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 hindbrain cerebellum     Homo sapiens   brain hindbrain pons     Homo sapiens   brain hindbrain medulla oblongata     Homo sapiens Visual eye         Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SET domain
	four zinc finger DNA binding motifs, C2H2 type

HOMOLOGY

Homologene

FAMILY

PR-domain protein family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	transcriptional regulator previously implicated in neuronal specification in the retina and spinal cord
	regulates development of a subset of amacrine cells, which newly defines an amacrine subtype to negatively modulate visual sensitivities
	is required for Ebf3+ amacrine cell formation in the retina
	requirement of PRDM13 for Purkinje cell differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDIDHH , MCDR1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Prdm13 knockout mice display dorso-ventral cell specification defects in the fetal neural tube and die neonatally of unknown reasons