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ATP6AP2

Basics

Aliases:
This biomarker is also known as:
  • ER-localized type I transmembrane adaptor,
  • N14F,
  • MRXE,
  • XMRE,
  • ATPase, H+ transporting, lysosomal accessory protein 2,
  • CAPER,
  • M8-9,
  • ATP6IP2,
  • APT6M8-9,
  • Renin/prorenin receptor,
  • MGC99577,
  • ATP6M8-9,
  • ELDF10,
  • ATPase, H+ transporting, lysosomal interacting protein 2,
  • HT028,
  • Embryonic liver differentiation factor 10,
  • MSTP009,
  • V-ATPase M8.9 subunit,
  • Renin receptor,
  • Vacuolar ATP synthase membrane sector-associated protein M8-9,

View in BioMuta

Description…

ATP6AP2 functions as a renin and prorenin cellular receptor. It may mediate renin-dependent cellular responses by activating ERK1 and ERK2. By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, it may also play a role in the renin-angiotensin system (RAS). ATP6AP2 is expressed in brain, heart, placenta, liver, kidney and pancreas; it is barely detectable in lung and skeletal muscles. In the kidney cortex it is restricted to the mesangium of glomeruli. In the coronary and kidney artery it is expressed in the subendothelium, associated to smooth muscles where it colocalizes with REN. It is expressed in vascular structures and by syncytiotrophoblast cells in the mature fetal placenta. Defects in ATP6AP2 are a cause of mental retardation X-linked with epilepsy (MRXE). MRXE is a syndromic mental retardation. Patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.

Attributes

QA State: Under Review
Type: Protein
Short Name:
HGNC Name: ATP6AP2

Datasets

There are no datasets associated with this biomarker.

Organs

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Studies

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Publications

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Resources

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

Announcement 10/07/2014

EDRN Patient Advocates will host an EDRN Advocacy Educational Webinar, Biomarkers for Prostate Cancer Detection and Monitoring, on Monday, January 12th, 2015, at 1 p.m. EDT / 10 a.m. PDT. Registration is not required for this. Please click for more information.
Announcement 09/14/2014

Thank you to everyone who helped make the 9th EDRN Scientific Workshop a success. We look forward to seeing everyone at the 28th EDRN Steering Committee Meeting from March 31-April 2, 2015, in Atlanta, GA.