SHROOM2

This gene represents the human homolog of Xenopus laevis apical protein (APX) gene, which is implicated in amiloride-sensitive sodium channel activity. It is expressed in endothelial cells and facilitates the formation of a contractile network within endothelial cells. Depletion of this gene results in an increase in endothelial sprouting, migration, and angiogenesis. This gene is highly expressed in the retina, and is a strong candidate for ocular albinism type 1 syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Description

Shroom family member 2

Tissue specificity

Tissue enhanced (retina)

Subcell location

Plasma membrane, Cell Junctions, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (9786429 - 9949443)

Ensembl ID

ENSG00000146950  (ver. 103.38)

Orthologs

Mouse Shroom2: ENSMUSG00000045180

UniProt

Q13796

neXtProt

NX_Q13796

Human splice variants
Mouse splice variants

Protein structure