SHROOM2 - shroom family member 2 Gene

Also Known as APXL; HSAPXL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 357

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
NOT involved in cell morphogenesis	IDA IDA: Inferred from direct assay	16684770	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
colocalizes with cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	16684770	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

SHROOM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SHROOM2	Q13796	NCK1	Homo sapiens	P16333	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12885	SHROOM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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