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FLASH GENE

Symbol

SIM2

contributors: mct - updated : 31-05-2015

HGNC name	single-minded homolog 2 (Drosophila)
HGNC id	10883

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	50.00 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D21S65 - D21S333 - SIM2 - D21S335 - D21S233 - qter
Authors	Chen (95)

regionally located

located in the Down syndrome critical region

RNA

TRANSCRIPTS	type	messenger

text	three alternatively spliced isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed SIM2-V1 - - 3880 73 667 - Chen SIM2-V2 or SIM2S - - 2859 - 570 only colon, pancreas, prostate tumors Chen, Chrast inhibited in tumor-selective apoptosis and differentiation in colon cancer cells SIM2-V3 or SIM2L - - 3921 - 667 - Yamaki, Chrast

EXPRESSION

Type

widely

constitutive of

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 Digestive intestine large intestine colon   highly   stomach       highly Reproductive female system ovary     highly   male system prostate       Urinary kidney

tissue

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

cell lineage
cell lines	glioblastoma cell line
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	basic helix-loop-helix (bHLH) juxtaposed to
	a stretch of approximately 300 AA, termed the PAS (Per - ARNT - Sim) region
	a NLS consisting of a cluster of basic amino acids with Pro and Tyr at the C-terminal

HOMOLOGY

interspecies

homolog to Drosophila (single-minded 2) Sim2

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	master regulator of fruit fly midline neurogenesis
	involved in the development of midline cells in the central nervous system
	MAD2L2 may mediate SIM2 function during development in CNS and thereby play a critical role in pathophysiological mechanisms in Down syndrome

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	MAD2L2 is a novel SIM2 binding protein
	MAGED1 binds and positively regulates the transcriptional activity of family members SIM1, SIM2, NPAS4 and ARNT2, but does not interact with AHR, HIF1A and ARNT

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TRI21

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS