Shroom family member 2

Shroom family member 2 is a protein that in humans is encoded by the SHROOM2 gene. ^[5]

SHROOM2
Identifiers
Aliases	SHROOM2, APXL, HSAPXL, shroom family member 2
External IDs	OMIM: 300103; MGI: 107194; HomoloGene: 84697; GeneCards: SHROOM2; OMA:SHROOM2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 9,786,429 bp[1] End 9,949,443 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F3|X 68.46 cM Start 151,392,505 bp[2] End 151,552,461 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus endothelial cell Brodmann area 23 secondary oocyte Brodmann area 46 primary visual cortex retinal pigment epithelium Brodmann area 10 hair follicle orbitofrontal cortex Top expressed in superior colliculus olfactory tubercle sciatic nerve piriform cortex otolith organ central gray substance of midbrain utricle substantia nigra zygote inferior colliculi More reference expression data BioGPS n/a
Gene ontology Molecular function beta-catenin binding protein binding ligand-gated sodium channel activity actin binding actin filament binding Cellular component cytoplasm membrane bicellular tight junction plasma membrane cell junction apical plasma membrane cortical actin cytoskeleton microtubule cytoskeleton extracellular exosome adherens junction apical junction complex Biological process eye pigment granule organization ear development actin filament bundle assembly multicellular organism development melanosome organization brain development lens morphogenesis in camera-type eye cell morphogenesis camera-type eye development cellular pigment accumulation cell migration camera-type eye morphogenesis sodium ion transmembrane transport establishment of melanosome localization apical protein localization actin filament organization actin cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 357 110380 Ensembl ENSG00000146950 ENSMUSG00000045180 UniProt Q13796 A2ALU4 RefSeq (mRNA) NM_001649 NM_001320663 NM_001320664 NM_001290684 NM_001290685 NM_001290686 NM_001290687 NM_172441 NM_001359158 NM_001359161 NM_001359163 RefSeq (protein) NP_001307592 NP_001307593 NP_001640 NP_001277613 NP_001277614 NP_001277615 NP_001277616 NP_766029 NP_001346087 NP_001346090 NP_001346092 Location (UCSC) Chr X: 9.79 – 9.95 Mb Chr X: 151.39 – 151.55 Mb PubMed search [3] [4]
Wikidata
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Function

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].