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FLASH GENE

Symbol

WIPI2

contributors: mct - updated : 10-10-2022

HGNC name	WD repeat domain, phosphoinositide interacting 2
HGNC id	32225

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IDSSA Intellectual developmental disorder with short stature and variable skeletal anomalies
Location	7p22.1      Physical location : 5.229.834 - 5.273.485
Synonym name	WD40 repeat protein interacting with phosphoinositides 2
	WIPI49-like protein 2
Synonym symbol(s)	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, WIPI-2, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B, IDDSSA, WIPI-2

DNA

TYPE	functioning gene
STRUCTURE	43.65 kb     13 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 NM_015610 13 - 4489 NP_056425 49 454 - 2021 34505572 NM_016003 12 - 4435 NP_057087 - 436 - 2021 34505572 NM_001033518 13 - 4456 NP_001028690 - 443 - 2021 34505572 NM_001033519 12 - 4402 NP_001028691 - 425 - 2021 34505572 NM_001033520 10 - 4295 NP_001028692 - 384 - 2021 34505572 NM_001278299 13 - 4619 NP_001265228 - 310 - 2021 34505572

EXPRESSION

Type

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 Digestive salivary gland       highly Reproductive male system prostate     highly   male system testis     highly Skin/Tegument skin       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	7-bladed propeller structure
	a conserved motif for interaction with phospholipids
	three WD repeats

HOMOLOGY

Homologene

FAMILY

WIPI subfamily of WD40 repeat proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions
	WIPI1 and WIPI2 as novel protein components of autophagosomes, and of membrane sites from which autophagosomes might originate (ER, PM, Golgi area)
	WIPI proteins function as essential phosphatidylinositol 3-phosphate (PtdIns3P) effectors at the nascent autophagosome
	WIPI2 protein level regulated by MTORC1 and HUWE1 is a pivotal determinant of cellular autophagy intensity
	robust mechanism for autophagosome formation in which WIPI2 may be one component of the preferential, but not sole, machinery with the potential to orchestrate autophagosome formation (

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	WIPI2 is a phosphorylation substrate of CRTC1 and a ubiquitination target of HUWE1
	interface between WIPI2 and ATG16L1 mediates autophagosome formation under starvation conditions
	WIPI2 binds to and promotes AAA-ATPase VCP/p97 to damaged mitochondria

cell & other

REGULATION

Other

dynamic and local phosphorylation of WIPI2 is a critical regulatory step in autophagosome biogenesis in neurons and this step is specifically affected by aging

ASSOCIATED DISORDERS

corresponding disease(s)

IDSSA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS