ATP6AP2 (ATPase H+ transporting accessory protein 2)

2008-07-01 Affiliation

Identity

HGNC

ATP6AP2

LOCATION

Xp11.4

LOCUSID

10159

ALIAS

APT6M8-9,ATP6IP2,ATP6M8-9,CDG2R,ELDF10,HT028,M8-9,MRXE,MRXSH,MSTP009,PRR,RENR,XMRE,XPDS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10159
MIM: 300556
HGNC: 18305
Ensembl: ENSG00000182220

Variants:

dbSNP: 10159
ClinVar: 10159
TCGA: ENSG00000182220
COSMIC: ATP6AP2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182220	ENST00000378438	A0A1C7CYW4
ENSG00000182220	ENST00000423649	B7Z1I9
ENSG00000182220	ENST00000436783	H7C240
ENSG00000182220	ENST00000447485	H7C3E1
ENSG00000182220	ENST00000486558	A0A1B0GVZ1
ENSG00000182220	ENST00000635734	A0A1B0GTD6
ENSG00000182220	ENST00000635774	A0A1B0GW13
ENSG00000182220	ENST00000636196	A0A1B0GVW0
ENSG00000182220	ENST00000636251	A0A1B0GU12
ENSG00000182220	ENST00000636287	A0A1B0GVB9
ENSG00000182220	ENST00000636409	O75787
ENSG00000182220	ENST00000636574	A0A1B0GV24
ENSG00000182220	ENST00000636580	O75787
ENSG00000182220	ENST00000636639	A0A1B0GV60
ENSG00000182220	ENST00000636787	A0A1B0GWJ8
ENSG00000182220	ENST00000636970	A0A1B0GVC7
ENSG00000182220	ENST00000637165	A0A1B0GUV3
ENSG00000182220	ENST00000637327	B7Z413
ENSG00000182220	ENST00000637482	A0A1B0GVI9
ENSG00000182220	ENST00000637526	A0A1B0GTU8
ENSG00000182220	ENST00000637614	A0A1B0GWD6
ENSG00000182220	ENST00000637955	A0A1B0GTB0
ENSG00000182220	ENST00000638153	A0A1B0GUT7

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Renin-angiotensin system	KEGG	ko04614
Renin-angiotensin system	KEGG	hsa04614
Metabolism of proteins	REACTOME	R-HSA-392499
Peptide hormone metabolism	REACTOME	R-HSA-2980736
Metabolism of Angiotensinogen to Angiotensins	REACTOME	R-HSA-2022377
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12045255	2002	Pivotal role of the renin/prorenin receptor in angiotensin II production and cellular responses to renin.	344
20093472	2010	Requirement of prorenin receptor and vacuolar H+-ATPase-mediated acidification for Wnt signaling.	190
17494887	2007	Slowly progressive, angiotensin II-independent glomerulosclerosis in human (pro)renin receptor-transgenic rats.	74
17082479	2006	A novel signal transduction cascade involving direct physical interaction of the renin/prorenin receptor with the transcription factor promyelocytic zinc finger protein.	73
16401765	2006	Elevated blood pressure and heart rate in human renin receptor transgenic rats.	52
15746149	2005	A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.	50
16807542	2006	Increased expression of cyclooxygenase-2 in the renal cortex of human prorenin receptor gene-transgenic rats.	44
23595882	2013	Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).	39
21270819	2011	The (pro)renin receptor is cleaved by ADAM19 in the Golgi leading to its secretion into extracellular space.	34
22407459	2013	Expression of angiotensinogen and receptors for angiotensin and prorenin in the monkey and human substantia nigra: an intracellular renin-angiotensin system in the nigra.	30

Citation

Dessen P

ATP6AP2 (ATPase H+ transporting accessory protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50184/atp6ap2-(atpase-h+-transporting-accessory-protein-2)