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FLASH GENE

Symbol

DMRTA2

contributors: mct - updated : 13-02-2018

HGNC name	DMRT-like family A2
HGNC id	13908

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	5.90 kb     2 Exon(s)

Genomic sequence alignment details
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_032110 2 - 3083 NP_115486 - 542 - 2014 25082981

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 Reproductive male system testis

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a doublesex DM DNA binding domain

HOMOLOGY

interspecies

homolog to Drosophila master sex regulator gene,doublesex

Homologene

FAMILY

DMRT

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	is an important player in ventral mesencephalic neural fate specification
	is a novel WNT-dependent transcription factor required for early cortical development and that it may regulate initial cortical patterning by promoting dorsal midline signaling center formation and thereby helping to establish the graded expression of the other transcription regulators of cortical identity
	plays likely pivotal roles in the early development of the telencephalon via the formation of the cortical hem, a source of WNTs, and also in the maintenance of neural progenitors as a downstream of the WNT pathway
	DMRTA2 appears to be necessary for proper differentiation of oogonia, prior to entry into meiosis
	transcription factor key to the development of the dorsal telencephalon
	plays an important role in maintaining neural progenitor cells (NPCs) in the cell cycle
	is a novel regulator of the neuron-glia cell-fate switch in the developing hippocampus

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	sex differentiation

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	DMRTA2 upregulates DMRT3 expression and negatively regulates its own expression, which may stabilize the level of DMRTA2, and likely DMRTA2, together with DMRT3, regulate patterning of the cerebral cortex
	DMRTA2 function is linked to the regulation of HES1 and other proneural genes, as demonstrated by genome-wide RNA-seq and direct binding of DMRTA2 to the HES1 genomic locus
	link between DMRTA2 modulation of HES1 expression and the maintenance of NPCs during cortical development
	LHX2 binds a highly conserved putative enhancer of DMRTA2, suggesting an evolutionarily conserved regulatory relationship between these factors

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function leads to a novel disorder of cortical development with fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly

Susceptibility

to Atrial fibrillation (AF)

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Dmrta2 null mutants demonstrated a dramatic reduction in medial cortical structures such as the cortical hem and the choroid plexus, and a complete loss of the hippocampus