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FLASH GENE

Symbol

CTNND2

contributors: mct/shn - updated : 12-06-2012

HGNC name	catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
HGNC id	2516

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDCS Cri-du-Chat syndrome
Location	5p15.2      Physical location : 10.971.951 - 11.904.110
Synonym name	catenin (cadherin-associated protein), delta 2
	T-cell delta-catenin
	catenin delta-2
	neurojungin
Synonym symbol(s)	NIBA2, NPRAP, GT24

DNA

TYPE	functioning gene
STRUCTURE	932.16 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif

MAPPING

cloned

Y

linked

status

confirmed

Map	tel - D5S432 - D5S478 - CTNND2 - D5S2081 - D5S1991 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 22 - 5440 isoform 1 160 1225 neural and neuroendocrine tissues Paffenholz et al 1997 variant 2 21 - 5168 isoform 2 150 1134 neural and neuroendocrine tissues Paffenholz et al 1997

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 Endocrine neuroendocrine pituitary     highly Nervous brain       highly Homo sapiens   nerve       highly

cell lineage
cell lines	prostate cancer cell lines : CWR22Rv-1 and PC-3
fluid/secretion

at STAGE

Text	fetal brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal head domain including a potential coiled-coil forming alpha-helix segment a central domain
	a central domain with ten repeats of the Armadillo motif
	a C terminal tail domain

HOMOLOGY

interspecies	homolog to Drosophila Armadillo segment polarity gene
	ortholog to ctnnd2, danio rerio
	ortholog to CTNND2, Pan troglodytes
	ortholog to Ctnnd2, Rattus norvegicus
	ortholog to Ctnnd2, Mus musculus

Homologene

FAMILY	p120(ctn)/plakophilin subfamily of Armadillo-like proteins
	b-catenin superfamily

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	may be iplicated in neuronal cell adhesion, tissue morphogenesis and integrity by regulating adhesion molecules
	involved in the molecular organization of synaptic junctions through interaction with the synaptic scaffolding molecule
	contributes to setting a balance between neurite elongation and branching in the elaboration of a complex dendritic tree

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA	regulate synapse-specific transcription of RAPSYN

small molecule

protein	presenilin 1, PS1 and presenilin 2, PS2 (
	Synaptic scaffolding molecule, S-SCAM (
	E-cadherin, beta-catenin, and protein-interacting PSD-95/Dlg-A/ZO-1 (PDZ) protein, PAPIN (
	Densin-180 (
	sphingosine kinase 1, SPHK1 (

cell & other

REGULATION

activated by

PAX6

ASSOCIATED DISORDERS

corresponding disease(s)

CDCS

Susceptibility

to schizophrenia to high myopia (

Variant & Polymorphism other	disrupted by rare CNVs in schizophrenia patients
	increase of nucleotide changes in the 50-untranslated region of delta-catenin gene reslting in overexpression and higher enzyme activity of delta-ceteninin human prostate cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS