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Shroom family member 2

From Wikipedia, the free encyclopedia
SHROOM2
Identifiers
AliasesSHROOM2, APXL, HSAPXL, shroom family member 2
External IDsOMIM: 300103; MGI: 107194; HomoloGene: 84697; GeneCards: SHROOM2; OMA:SHROOM2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001649
NM_001320663
NM_001320664

RefSeq (protein)

NP_001307592
NP_001307593
NP_001640

Location (UCSC)Chr X: 9.79 – 9.95 MbChr X: 151.39 – 151.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000146950Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045180Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Shroom family member 2". Retrieved 2017-11-05.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.