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FLASH GENE

Symbol

AUTS2

contributors: mct/ - updated : 27-10-2011

HGNC name	autism susceptibility candidate 2
HGNC id	14262

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AUTS2 autism spectrum disorder, 2 MRD26 mental retardation, autosomal dominant 26
Location	7q11.22      Physical location : 69.063.904 - 70.257.884
Synonym name	autism-related protein 1
	atrophin 1,interacting protein 1,related to rabbit atrophin 1
Synonym symbol(s)	KIAA0442, DRPLAIP1, FBRSL2, MGC13140

DNA

TYPE	functioning gene
STRUCTURE	1193.80 kb     19 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_001127231 18 - 5952 NP_001120703 - 1235 - 2010 20635338 NM_001127232 5 - 1678 NP_001120704 - 266 - 2010 20635338 NM_015570 19 - 6426 NP_056385 - 1259 - 2010 20635338 AUTS2CT 9 - - - 697 in the human brain 2013 23332918 C-terminal isoform (with an alternative transcription start site) short 3prime AUTS2 mRNA variant starting in the middle of exon 9

EXPRESSION

Type	ubiquitous

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 Hearing/Equilibrium ear inner cochlea   highly Nervous brain         Homo sapiens   nerve       highly Respiratory respiratory tract larynx     highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	MAGUK (membrane associated guanylate kinase homolog) superfamily with a guanylate kinase domain
	two WW (phosphoserine- or phosphothreonine binding) domains
	five PDZ domains (PSD95/Discs large/ZO-1)
	two proline rich domains
	a PY motif
	one PPY motif

HOMOLOGY

interspecies

homolog to rabbit atrophin 1

intraspecies

homolog to known fibrosin 1 protein (FBS1), which is a fibroblast growth factor

Homologene

FAMILY	MAGUK (membrane associated guanylate kinase homolog) superfamily
	AUTS2 family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	frontal cortex marker gene, direct target of TBR1 binding and activation
	neuronal nuclear protein, involved in the regulation of alcohol intake
	is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

atrophin 1 binding

cell & other

REGULATION

activated by

TBR1

ASSOCIATED DISORDERS

corresponding disease(s)

AUTS2 , MRD26

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       PAX5-AUTS2 is a recurrent fusion gene (t(7;9)(q11.2;p13.2)) in pediatric B-cell precursor acute lymphoblastic leukemia

Susceptibility

to autism (AUTS2) to alcohol consumption

Variant & Polymorphism SNP	SNP rs6943555 in AUTS2 associated with alcohol consumption

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

suppression of auts2 in zebrafish embryos caused microcephaly that could be rescued by either the full-length or the C-terminal isoform of AUTS2