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FLASH GENE

Symbol

APPL2

contributors: mct - updated : 17-05-2017

HGNC name	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2
HGNC id	18242

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12q24.1      Physical location : 105.567.074 - 105.630.008
Synonym name	adaptor protein containing PH domain, PTB domain and leucine zipper motif 2
	DIP13 beta
	DCC-interacting protein 13-beta
Synonym symbol(s)	FLJ10659, DIP13B

DNA

TYPE	functioning gene
STRUCTURE	62.00 kb     21 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed APPL2 21 - 3289 74 664 - -

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 Cardiovascular heart       highly Digestive intestine large intestine colon   highly   mouth tongue     moderately Reproductive female system uterus     moderately   female system breast mammary gland   moderately   male system testis     highly Respiratory respiratory tract larynx     moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal BAR domain
	a central PH domain
	a C-terminal PTB domain
	a PID domain
	a potential nuclear localization signal

HOMOLOGY

interspecies

ortholog to murine Dip3b

Homologene

FAMILY

pleckstrin-like family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
	intracellular,nucleus
text	colocalized with NuRD complex
	early endosomal membrane-bound and nuclear
	translocated into the nucleus upon release from endosomal membranes following internalization of EGF

basic FUNCTION	required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment
	linking Rab5 to nuclear signal transduction
	APPL1 and APPL2 appear to play important roles in cargo trafficking and signal transduction

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	RAB5A/Rab5 through an N-terminal domain
	subunits of the NuRD/MeCP1 complex
	APPL1 and APPL2 are associated with TGFBR1 in a TRAF6-dependent manner

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   translocation     chromosomal aberration involving DIP13B in DEL22Q13 syndrome, translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2 tumoral     --over   in aggressive prostate cancer tissues

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	APPL, APPL2-TGFBR1 complex may serve as a prognostic marker, in prostate cancer
Therapy target

ANIMAL & CELL MODELS