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ATP6AP2

Basics

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

2015 Steering Committee Meeting

The next EDRN Steering Committee Meeting will take place March 31st through April 2nd, 2015, in Atlanta, Georgia.

Announcement 02/12/2015

Please register for the 29th EDRN Steering Committee Meeting in Atlanta, GA from March 31-April 2, 2015. The registration page has information about booking hotel rooms and a draft agenda of the meeting.

Announcement