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FLASH GENE

Symbol

CTNNA3

contributors: mct - updated : 15-10-2010

HGNC name	catenin (cadherin-associated protein), alpha 3
HGNC id	2511

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	gene in gene
text	gene LRRTM3 in intron 7
STRUCTURE	1776.22 kb     18 Exon(s)

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	promoter with several binding sites for cardiac and muscle-specific transcription factors (MEF2C and GATA4 each have an activating effect on the alphaT-catenin promoter)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D10S561 - D10S1461 - CTNNA3 - D10S1606 - D10S1560 - qter
Authors	Janssens (03)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013266 18 - 3248 NP_037398 99.8 895 - 2001 11590244 NM_001127384 18 - 3174 NP_001120856 99.8 895 - 2001 11590244

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       predominantly Nervous brain diencephalon hypothalamus   highly   brain hindbrain medulla oblongata   highly   spinal cord         Reproductive male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac   predominantly Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Muscular myocyte Reproductive interstitial cell

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	maternally
text	down-regulated expression in androgenetic placenta
	preferential monoallelic expression of the maternal allele in placental tissue

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to murine Ctnna3

Homologene

FAMILY

vinculin/alpha-catenin family

CATEGORY

adhesion , regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
text	colocalizes with CTNNA1 at the intercalated discs of cardiomyocytes and in peritubular myoid cells of testis

basic FUNCTION	involved in the organization of the actin cytoskeleton and in cell adhesion
	necessary for the formation of stretch-resistant cell-cell adhesion complexes, in particular, muscle cells
	influencing susceptibility to Alzheimer's disease, and the effect is dependent on APOE status
	provides an indispensable link between a cadherin-based adhesion complex and the actin cytoskeleton, resulting in strong cell-cell adhesion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with CTNNB1
	STOX1–CTNNA3 interaction is direct and includes Akt-mediated phosphorylated control of nucleo-cytoplasmic shuttling and ubiquitin-mediated degradation as shared with the FOX multigene family
	binding of CTNNA3 to plakophilin-2 is proposed to be a means of modulating and strengthening cell-cell adhesion between cardiac muscle cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   with monoallelic and biallelic expression patterns in tumor bladder tissue constitutional         silencing of STOX1 or CTNNA3 leads to a change in extravillous trophoblast phenotype toward a non-proliferative cell type in the early placenta

Susceptibility

to late-onset Alzheimer disease(LOAD)in females to toluene diisocyanate-induced asthma (TDI)

Variant & Polymorphism SNP	SNP 4360 and 4783 significatively associated with LOAD in females (SNP exhibited no interaction with the APOE-epsilon4 allele)
	polymorphism in the 3' downstream region of CTNNA3 (rs1786929), significantly associated with the TDI-induced asthma phenotype

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS