Shroom family member 2

SHROOM2
Identifiers
Aliases	SHROOM2, APXL, HSAPXL, shroom family member 2
External IDs	MGI: 107194 HomoloGene: 84697 GeneCards: SHROOM2
Gene location (Human)
Chr.	X chromosome (human)[1]
End	9,949,443 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	152,769,465 bp[2]
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-cell adherens junction; • cell junction; • apical plasma membrane; • cortical actin cytoskeleton; • microtubule; • cytoskeleton; • extracellular exosome;
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;
	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

1 2 3 GRCh38: Ensembl release 89: ENSG00000146950 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045180 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ "Entrez Gene: Shroom family member 2". Retrieved 2017-11-05.

Shroom family member 2

Function

References

Further reading