ENSG00000147065


Homo sapiens

Features
Gene ID: ENSG00000147065
  
Biological name :MSN
  
Synonyms : moesin / MSN / P26038
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q12
Gene start: 65588377
Gene end: 65741931
  
Corresponding Affymetrix probe sets: 200600_at (Human Genome U133 Plus 2.0 Array)   233749_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000353408
Ensembl peptide - ENSP00000477441
NCBI entrez gene - 4478     See in Manteia.
OMIM - 309845
RefSeq - XM_017029546
RefSeq - NM_002444
RefSeq - XM_005262269
RefSeq - XM_011530959
RefSeq - XM_017029545
RefSeq Peptide - NP_002435
swissprot - P26038
swissprot - V9GZ54
swissprot - V9HWC0
Ensembl - ENSG00000147065
  
Related genetic diseases (OMIM): 300988 - Immunodeficiency 50, 300988
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 msnaENSDARG00000058128Danio rerio
 msnbENSDARG00000028740Danio rerio
 MSNENSGALG00000039615Gallus gallus
 MsnENSMUSG00000031207Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RDX / P35241 / radixinENSG0000013771082
EZR / ezrin / P15311ENSG0000009282074
NF2 / P35240 / neurofibromin 2ENSG0000018657546
FARP1 / Q9Y4F1 / FERM, ARH/RhoGEF and pleckstrin domain protein 1ENSG0000015276726
FARP2 / O94887 / FERM, ARH/RhoGEF and pleckstrin domain protein 2ENSG0000000660725
FRMD7 / Q6ZUT3 / FERM domain containing 7ENSG0000016569420
MYLIP / Q8WY64 / myosin regulatory light chain interacting proteinENSG0000000794417


Protein motifs (from Interpro)
Interpro ID Name
 IPR000299  FERM domain
 IPR000798  Ezrin/radixin/moesin-like
 IPR008954  Moesin tail domain superfamily
 IPR011174  Ezrin/radixin/moesin
 IPR011259  Ezrin/radixin/moesin, C-terminal
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR018979  FERM, N-terminal
 IPR018980  FERM, C-terminal PH-like domain
 IPR019747  FERM conserved site
 IPR019748  FERM central domain
 IPR019749  Band 4.1 domain
 IPR029071  Ubiquitin-like domain superfamily
 IPR035963  FERM superfamily, second domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001771 immunological synapse formation IDA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007159 leukocyte cell-cell adhesion IEP
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0008361 regulation of cell size IMP
 biological_processGO:0010628 positive regulation of gene expression IGI
 biological_processGO:0022612 gland morphogenesis IMP
 biological_processGO:0022614 membrane to membrane docking IEP
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 biological_processGO:0042098 T cell proliferation IDA
 biological_processGO:0045198 establishment of epithelial cell apical/basal polarity IMP
 biological_processGO:0050900 leukocyte migration IEP
 biological_processGO:0061028 establishment of endothelial barrier IGI
 biological_processGO:0070489 T cell aggregation IDA
 biological_processGO:0071394 cellular response to testosterone stimulus IDA
 biological_processGO:0071803 positive regulation of podosome assembly IEA
 biological_processGO:0072678 T cell migration IDA
 biological_processGO:1902115 regulation of organelle assembly IGI
 biological_processGO:1902966 positive regulation of protein localization to early endosome IGI
 biological_processGO:1903364 positive regulation of cellular protein catabolic process IGI
 biological_processGO:2000401 regulation of lymphocyte migration IMP
 biological_processGO:2000643 positive regulation of early endosome to late endosome transport IGI
 cellular_componentGO:0001931 uropod IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005902 microvillus IDA
 cellular_componentGO:0005925 focal adhesion IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030175 filopodium IDA
 cellular_componentGO:0031143 pseudopodium IDA
 cellular_componentGO:0031528 microvillus membrane IEA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0045177 apical part of cell IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071437 invadopodium IDA
 cellular_componentGO:0071944 cell periphery IDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0003725 double-stranded RNA binding IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0050839 cell adhesion molecule binding IPI


Pathways (from Reactome)
Pathway description
Recycling pathway of L1
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000964 Eczema "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
Show

 HP:0001888 Lymphopenia 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0004313 Reduced immunoglobulin levels 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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