Shroom family member 2

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)
End	9,949,443 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	151,552,461 bp
RNA expression pattern
	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
	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
	357
	110380
	ENSG00000146950
	ENSMUSG00000045180
	Q13796
	A2ALU4
	NM_001649; NM_001320663; NM_001320664
NM_001290684; NM_001290685; NM_001290686; NM_001290687; NM_172441;
	NM_001359158; NM_001359161; NM_001359163
	NP_001307592; NP_001307593; NP_001640
NP_001277613; NP_001277614; NP_001277615; NP_001277616; NP_766029;
	NP_001346087; NP_001346090; NP_001346092
	Wikidata
View/Edit Human	View/Edit Mouse

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

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].

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000146950 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000045180 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Shroom family member 2". Retrieved 2017-11-05.

Function

References

Further reading