Version 5.4
Homo sapiens Gene: SHROOM2
Summary
InnateDB Gene IDBG-42698.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SHROOM2
Gene Name shroom family member 2
Synonyms APXL; HSAPXL
Species Homo sapiens
Ensembl Gene ENSG00000146950
Encoded Proteins
IDBP-42700
shroom family member 2
IDBP-361695
shroom family member 2
IDBP-361696
shroom family member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene shares significant similarities with the apical protein from Xenopus laevis which is implicated in amiloride-sensitive sodium channel activity. This gene is a strong candidate gene for ocular albinism type 1 syndrome. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:9786456-9949443
Strand Forward strand
Band p22.2
Transcripts
ENST00000380913 ENSP00000370299
ENST00000418909 ENSP00000415229
ENST00000452575 ENSP00000406724
ENST00000493668
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0015280 ligand-gated sodium channel activity
GO:0019904 protein domain specific binding
GO:0051015 actin filament binding
Biological Process
GO:0000902 cell morphogenesis
GO:0002089 lens morphogenesis in camera-type eye
GO:0007420 brain development
GO:0008057 eye pigment granule organization
GO:0016477 cell migration
GO:0030835 negative regulation of actin filament depolymerization
GO:0032401 establishment of melanosome localization
GO:0032438 melanosome organization
GO:0035725 sodium ion transmembrane transport
GO:0043010 camera-type eye development
GO:0043482 cellular pigment accumulation
GO:0043583 ear development
GO:0045176 apical protein localization
GO:0045217 cell-cell junction maintenance
GO:0048593 camera-type eye morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005913 cell-cell adherens junction
GO:0005923 tight junction
GO:0005938 cell cortex
GO:0016324 apical plasma membrane
GO:0030864 cortical actin cytoskeleton
GO:0031941 filamentous actin
GO:0043025 neuronal cell body
GO:0043296 apical junction complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000045180
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.567236
RefSeq NM_001649 XM_005274500
HUGO
OMIM
CCDS CCDS14135
HPRD 02113
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca