SHROOM2
Identifiers
AliasesSHROOM2, APXL, HSAPXL, shroom family member 2
External IDsOMIM: 300103 MGI: 107194 HomoloGene: 84697 GeneCards: SHROOM2
Orthologs
SpeciesHumanMouse
Entrez

357

110380

Ensembl

ENSG00000146950

ENSMUSG00000045180

UniProt

Q13796

A2ALU4

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

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000146950 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045180 - Ensembl, 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

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


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