SHROOM2 - shroom family member 2 Gene

Homo sapiens

Also known as APXL; HSAPXL

Gene ID: 357 | Gene type: protein coding

About SHROOM2

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:9,786,429-9,949,443 (from NCBI)

This gene has 4 transcripts (splice variants), 282 orthologues and 3 paralogues. Broad expression in ovary (RPKM 2.6), placenta (RPKM 2.6) and 21 other tissues.

Summary

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]

SHROOM2 Products(3)

mRNA	Protein	Name
NM_001320663.2	NP_001307592.1	protein Shroom2 isoform 2
NM_001320664.2	NP_001307593.1	protein Shroom2 isoform 3
NM_001649.4	NP_001640.1	protein Shroom2 isoform 1

SHROOM2 Protein Structure

PDZ

ASD1

ASD2

0
300
600
900
1200
1500
1616 a.a.

Protein Preferred Names

Protein Names

protein Shroom2

APX homolog of Xenopus

Related Diseases

Diseases

Alias

Ocular Albinism

Albinism, Ocular	Oa
Xloa	Albinism Ocular

Meniere Disease

Meniere'S Disease	Otogenic Vertigo
Ménière Disease	Ménière'S Disease
Mnire'S Vertigo	Auditory Vertigo
Aural Vertigo	Meniere'S Syndrome
Ménière'S Vertigo	Primary Endolymphatic Hydrops
Menieres Disease	Vertigo, Aural
Labyrinth Hydrops	Labyrinthine Hydrops
Labyrinthine Vertigo	Ménière Syndrome
Ménière Vertigo	Idiopathic Endolymphatic Hydrops

Flinders Island Spotted Fever

Fisf	Thai Tick Typhus

Albinism

Atrial Septal Defect 2

ASD2	Atrial Heart Septal Defect 2
Atrial Septal Defect-2	Asd Ii
Septal Defect, Atrial, Type 2

Developmental And Epileptic Encephalopathy 28

DEE28	Epileptic Encephalopathy, Early Infantile, 28
Eiee28	Developmental And Epileptic Encephalopathy, 28
Early Infantile Epileptic Encephalopathy 28	Encephalopathy, Epileptic, Early Infantile, Type 28

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12885	SHROOM2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SHROOM2	VGNC	VGNC:106927
Rattus norvegicus	SHROOM2	RGD	RGD:1565163
Macaca mulatta	SHROOM2	VGNC	VGNC:77358
Canis familiaris	SHROOM2	VGNC	VGNC:46157
Mus musculus	SHROOM2	MGD	MGI:107194

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