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FLASH GENE

Symbol

TFAP2B

contributors: mct/npt - updated : 01-07-2012

HGNC name	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
HGNC id	11743

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	28.89 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

scaffold attachement regions/matrix attachement regions

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see PKHD1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003221 7 - 5770 NP_003212 - 460 - Williamson (1996)

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 Nervous nerve cranial nerve     highly Visual eye       highly Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Visual amacrine cell Mus musculus Fetal Visual horizontal association cell Mus musculus Fetal

cell lineage	cells derived from neuroectoderm
cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	facial, neural crest, mesenchyme, cornea, kidney

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an amino-terminal P/Q-rich transcriptional activation domain
	a helix-span-helix domain, mediating dimerization and DNA binding

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Tcfqp2b

Homologene

FAMILY

AP2 transcription factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	retinoic acid induced differentiation of neurons and geia
	involved in ductal,facial,limb development
	playing an important role in development, apoptosis, cell-cycle control, and complex morphogenic processes
	involved in monoaminergic transmission, likely due to a regulatory effect on genes that are fundamental to this system, monoamine oxidase type A, and the serotonin transporter (Nordquist 2009)

CELLULAR PROCESS	cell life, differentiation
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

CDK5 interacting with TFAP2B

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHAR

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       causing isolated patent ductus arteriosus without other clinical features (Khetyar 2008)

Susceptibility

to type 2 diabetes to female alcoholism

Variant & Polymorphism SNP	increasing the risk of type 2 diabetes
	high-functioning allele was significantly more common among the female alcoholics, compared to the non-alcoholic controls (Nordquist 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS