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FLASH GENE

Symbol

ATP6AP2

contributors: mct - updated : 10-02-2014

HGNC name	ATPase, H+ transporting, lysosomal accessory protein 2
HGNC id	18305

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	25.67 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	alternatively spliced in multiple tissues including brain (PMID: 23595882)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005765 9 - 2044 - 350 - 1998 9556572 ATP6AP2 c 8 splicing - - - - - internal deletion of 32 amino acids ATP6AP2d 9 splicing - - - - - containing normally spliced exon 4

EXPRESSION

Type	ubiquitous

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 Nervous brain       highly Urinary kidney tubule convoluted tubule   moderately Homo sapiens   kidney tubule collecting duct   moderately Homo sapiens Visual eye retina     lowly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)   moderately Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta highly

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an extramembrane catalytic sector
	the V-type ATPases associated with a single transmembrane proton-conducting sector similar to a region of the human renin receptor 1
	a large extracellular domain (&
	8764;310 AAs)
	a single transmembrane domain (&
	8764;20 AAs)
	an intracellular domain (&
	8764;19 AAs), playing a role in protein oligomerization

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme , receptor membrane

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,vesicle
text	robust expression in the endoplasmic reticulum (ER) or the Golgi but not in the plasma membrane
	present within the plasma membrane and membranes of some organelles such as endosome, lysosome and secretory vesicle

basic FUNCTION	playing a fundamental role in energy conservation, secondary active transport, acidification of intracellular compartments
	playing an essential role for blood pressure control and water-electrolyte balance
	involved in the development and progression of kidney disease in diabetes by enhancing renal production of the inflammatory cytokines TNF and IL1beta, independent of renal ANGPT2 effects
	single-pass transmembrane domain protein that is involved in a range of processes such as intracellular pH homeostasis, renin–angiotensin system and WNT signaling
	brain ATP6AP2 is functional and plays a role in the neural control of cardiovascular functions
	plays an important role in the development of cardiovascular diseases
	important component of the renin-angiotensin system (RAS), which regulates blood pressure and cardiovascular function
	essential accessory component of the vacuolar ATPase required for lysosomal degradative functions and autophagy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

energetic

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	transmembrane sector of the V-type ATPases
	renin and prorenin
	is cleaved by ADAM19 in the Golgi resulting in two fragments, N-terminal and C-terminal fragment

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRXSH , XPDS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in the kidney with diabetic nephropathy up to the end-stage renal disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS