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FLASH GENE

Symbol

RERE

contributors: mct - updated : 25-05-2016

HGNC name	arginine-glutamic acid dipeptide (RE) repeats
HGNC id	9965

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RERED RERE deficiency
Location	1p36.23      Physical location : 8.412.465 - 8.877.699
Synonym name	deleted in neuroblastom1/atrophin related protein
	RE repeats encoded
	atrophin 2
	atrophin-1 like protein
Synonym symbol(s)	KIAA0458, ARP, ARG, ATN1L, DNB1, ATR2, DNB1, ATN2

DNA

TYPE	functioning gene
STRUCTURE	465.24 kb     13 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D1S214 - D1S2663 - D1S2694 - D1S503 - RERE - D1S450 - D1S244 - cen
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001042681 23 - 8022 NP_001036146 - 1566 - 2007 17150957 NM_012102 24 - 8207 NP_036234 - 1566 - 2007 17150957 ATN2L N-terminal MTA-2-homologous domain followed by an Atrophin-1-related domain has a transcriptional repression activity that is not found in the other Atrophin polypeptides and that is required for normal embryogenesis NM_001042682 13 - 6321 NP_001036147 - 1012 in vascular smooth muscle cell, mRNA expression was more responsive to stimuli 2007 17150957 ATN2S expressed via an internal promoter, consists solely of the Atrophin domain Atrophin-1 and the short form of RERE, can act as potent and evolutionarily conserved transcriptional activators

EXPRESSION

Type

widely

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 Cardiovascular heart       highly Endocrine pancreas       highly Nervous brain       highly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a region of alternating glutamine and proline residues
	a region of arginine aspartic
	ELM2 (EGL-27 and MTA1 homology 2) domain, and SANT (SWI3/ADA2/N-CoR/TFIII-B) domain, which are also present in other important transcriptional cofactors (both domains orchestrate molecular events that lead to a stable methylation of histone H3-lysine 9)

HOMOLOGY

interspecies

homolog to rattus Atn1 protein

intraspecies

homolog to DRPLA,C terminal portion of RERE

Homologene

FAMILY

Atrophin family proteins

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	FAT1 and RERE colocalized at cell-cell junctions, in the perinuclear area, and in the nucleus

basic FUNCTION	protein protein interaction
	ATN1 and RERE function as bifunctional transcriptional regulators
	required for the normal patterning of the early vertebrate embryo, including the central nervous system, pharyngeal arches, and limbs
	playing an important role in the control of cell survival
	FAT1 and ATRS (ATN1 and RERE), act in concert after vascular injury but show further that distinct Atr isoforms have disparate effects on vascular smooth muscle cells directional migration
	controls retinoic acid signalling, which is required to maintain somite symmetry by interacting with FGF8 in the left-right signalling pathway
	controls retinoic acid signalling and somite bilateral symmetry
	nuclear receptor coregulator that positively regulates retinoic acid signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

RERE forms a complex with NR2F2, EP300 and a retinoic acid receptor, which is recruited to the retinoic acid regulatory element of retinoic acid targets

INTERACTION

DNA

RNA

small molecule

protein	binding DRPLA enhancer by extended polyglutamine
	binds histone deacetylase 1 and 2 (HDAC1/2), and orphan nuclear receptors such as NR2E1
	interactions between FAT1 and Atrophins (ATN1, RERE) might contribute to FAT1 effects on vascular smooth muscle cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RERED

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mutation in Rere leads to the formation of asymmetrical somites in mouse embryos, similar to embryos deprived of retinoic acid