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FLASH GENE

Symbol

DMRT2

contributors: np/mct - updated : 29-03-2020

HGNC name	doublesex and mab-3 related transcription factor 2
HGNC id	2935

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Reproductive male system testis       Respiratory lung       lowly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

Text	expressed in the dermomyotome of developing vertebrate somites

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal DNA binding domain (DM)
	a proline and serine-rich region

HOMOLOGY

interspecies	homolog to Drosophila double sex
	homolog to C.elegans MAB-3 related transcription factor 1

intraspecies

paralog to DMRT1 and DMRT3

Homologene

FAMILY

DMRT family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome
text	colocalization with telomeric chromatin

basic FUNCTION	involved in somitogenesis
	essential function for DMRT2 in somite development
	acts as a potent competitive inhibitor for telomeric DNA in addition to exerting an uncompetitive mode of inhibition
	may be involved in telomerase regulation by the telomere substrate
	may regulate telomerase at chromosome ends
	may be released from the telomere, and bind and inhibit telomere-proximal telomerase molecules and prevent their access to the chromosomal end
	promotes POT1 binding to telomeric single-stranded DNA by removing HNRNPA1
	HNRNPA1, DMRT2 and POT1 act in concert to displace RPA1 from telomeric single-stranded DNA after DNA replication, and promote telomere capping to preserve genomic integrity
	inhibits RPA1 displacement in early S phase, and its decline in late S phase may provide a window for RPA1 displacement
	implicated in the regulation of telomere length and heterochromatin formation
	functions as an epigenomic modulator in trans and as an essential regulator of telomeres in cis
	ATF7 and DMRT2 play key roles in paternal stress-induced telomere shortening in the offspring

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

PAX3/DMRT2/MYF5 regulatory cascade operating in stem cells of the epaxial dermomyotome to initiate skeletal muscle formation

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	telomerase ligand and natural direct inhibitor of human telomerase
	potent inhibitor of the RPA1 displacing activity of HNRNPA1)
	knockdown of MORF4L2, a component of the NuA4 histone acetyltransferase complex, reduced DMRT2 levels both globally and for telomere-bound DMRT2
	direct and essential function of HSF1 in the transcriptional activation of DMRT2 and in telomere protection upon stress
	subtelomeric CTCF facilitates telomeric DNA replication by promoting DMRT2 transcription
	ARNTL plays a direct role in telomere homeostasis by regulating rhythms in DMRT2 and heterochromatin
	DMRT2 can lead to the enrichment of CBX5 at telomeres to maintain heterochromatin
	at telomeres, DMRT2 competes with telomeric DNA for ATRX binding, suppresses ATRX localization, and ensures telomeric stability

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRA2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       mutations in DMRT2 are likely associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Dmrt2 knock-out mice exhibit severe rib and vertebral defects