ATP6AP2 (ATPase H+ transporting accessory protein 2)

2008-07-01  

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182220ENST00000378438A0A1C7CYW4
ENSG00000182220ENST00000423649B7Z1I9
ENSG00000182220ENST00000436783H7C240
ENSG00000182220ENST00000447485H7C3E1
ENSG00000182220ENST00000486558A0A1B0GVZ1
ENSG00000182220ENST00000635734A0A1B0GTD6
ENSG00000182220ENST00000635774A0A1B0GW13
ENSG00000182220ENST00000636196A0A1B0GVW0
ENSG00000182220ENST00000636251A0A1B0GU12
ENSG00000182220ENST00000636287A0A1B0GVB9
ENSG00000182220ENST00000636409O75787
ENSG00000182220ENST00000636574A0A1B0GV24
ENSG00000182220ENST00000636580O75787
ENSG00000182220ENST00000636639A0A1B0GV60
ENSG00000182220ENST00000636787A0A1B0GWJ8
ENSG00000182220ENST00000636970A0A1B0GVC7
ENSG00000182220ENST00000637165A0A1B0GUV3
ENSG00000182220ENST00000637327B7Z413
ENSG00000182220ENST00000637482A0A1B0GVI9
ENSG00000182220ENST00000637526A0A1B0GTU8
ENSG00000182220ENST00000637614A0A1B0GWD6
ENSG00000182220ENST00000637955A0A1B0GTB0
ENSG00000182220ENST00000638153A0A1B0GUT7

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Renin-angiotensin systemKEGGko04614
Renin-angiotensin systemKEGGhsa04614
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Metabolism of Angiotensinogen to AngiotensinsREACTOMER-HSA-2022377
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
361537752023Targeting the (pro)renin receptor in cancers: from signaling to pathophysiological effects.1
361537752023Targeting the (pro)renin receptor in cancers: from signaling to pathophysiological effects.1
350864552022(Pro)renin Receptor and Blood Pressure Regulation: A Focus on the Central Nervous System.3
351704162022The Role of (Pro)Renin Receptor in the Metabolic Syndrome.2
351704172022Hormone-Dependent Regulation of Renin and Effects on Prorenin Receptor Signaling in the Collecting Duct.0
354019362022Role of the prorenin receptor in endometrial cancer cell growth.3
357794662022Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.2
350864552022(Pro)renin Receptor and Blood Pressure Regulation: A Focus on the Central Nervous System.3
351704162022The Role of (Pro)Renin Receptor in the Metabolic Syndrome.2
351704172022Hormone-Dependent Regulation of Renin and Effects on Prorenin Receptor Signaling in the Collecting Duct.0
354019362022Role of the prorenin receptor in endometrial cancer cell growth.3
357794662022Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.2
336776302021Non-coding Single Nucleotide Variants of Renin and the (Pro)renin Receptor are Associated with Polygenic Diseases in a Bangladeshi Population.1
338099462021(Pro)renin Receptor Is Present in Human Sperm and It Adversely Affects Sperm Fertility Ability.2
340874532021(Pro)renin Receptor Knockdown Attenuates Liver Fibrosis Through Inactivation of ERK/TGF-β1/SMAD3 Pathway.10

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/js/lib/case-report-explorer/welcome