ENSG00000137710


Homo sapiens

Features
Gene ID: ENSG00000137710
  
Biological name :RDX
  
Synonyms : P35241 / radixin / RDX
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q22.3
Gene start: 109864295
Gene end: 110296722
  
Corresponding Affymetrix probe sets: 204969_s_at (Human Genome U133 Plus 2.0 Array)   212397_at (Human Genome U133 Plus 2.0 Array)   212398_at (Human Genome U133 Plus 2.0 Array)   244739_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000437140
Ensembl peptide - ENSP00000437301
Ensembl peptide - ENSP00000496503
Ensembl peptide - ENSP00000496414
Ensembl peptide - ENSP00000496121
Ensembl peptide - ENSP00000494706
Ensembl peptide - ENSP00000494693
Ensembl peptide - ENSP00000494060
Ensembl peptide - ENSP00000445826
Ensembl peptide - ENSP00000342830
Ensembl peptide - ENSP00000384136
Ensembl peptide - ENSP00000431560
Ensembl peptide - ENSP00000432112
Ensembl peptide - ENSP00000432572
Ensembl peptide - ENSP00000432829
Ensembl peptide - ENSP00000433580
Ensembl peptide - ENSP00000434881
Ensembl peptide - ENSP00000435930
Ensembl peptide - ENSP00000436277
NCBI entrez gene - 5962     See in Manteia.
OMIM - 179410
RefSeq - NM_002906
RefSeq - NM_001260492
RefSeq - NM_001260493
RefSeq - NM_001260494
RefSeq - NM_001260495
RefSeq - NM_001260496
RefSeq Peptide - NP_002897
RefSeq Peptide - NP_001247421
RefSeq Peptide - NP_001247422
RefSeq Peptide - NP_001247423
RefSeq Peptide - NP_001247424
RefSeq Peptide - NP_001247425
swissprot - P35241
swissprot - E9PQ82
swissprot - E9PNV3
swissprot - E9PNP4
swissprot - E9PN07
swissprot - E9PKN5
swissprot - B0YJ88
swissprot - E9PRS5
Ensembl - ENSG00000137710
  
Related genetic diseases (OMIM): 611022 - Deafness, autosomal recessive 24, 611022
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
 RDXENSGALG00000017153Gallus gallus
 RdxENSMUSG00000032050Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MSN / moesin / P26038ENSG0000014706578
EZR / ezrin / P15311ENSG0000009282074
NF2 / P35240 / neurofibromin 2ENSG0000018657546
FARP2 / O94887 / FERM, ARH/RhoGEF and pleckstrin domain protein 2ENSG0000000660726
FARP1 / Q9Y4F1 / FERM, ARH/RhoGEF and pleckstrin domain protein 1ENSG0000015276725
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:0008360 regulation of cell shape IMP
 biological_processGO:0008361 regulation of cell size IGI
 biological_processGO:0010628 positive regulation of gene expression IGI
 biological_processGO:0010737 protein kinase A signaling ISS
 biological_processGO:0030033 microvillus assembly IEA
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0032231 regulation of actin filament bundle assembly IMP
 biological_processGO:0032487 regulation of Rap protein signal transduction ISS
 biological_processGO:0034111 negative regulation of homotypic cell-cell adhesion IMP
 biological_processGO:0034260 negative regulation of GTPase activity IMP
 biological_processGO:0036120 cellular response to platelet-derived growth factor stimulus IEA
 biological_processGO:0043087 regulation of GTPase activity IGI
 biological_processGO:0045176 apical protein localization IEA
 biological_processGO:0045184 establishment of protein localization ISS
 biological_processGO:0045792 negative regulation of cell size IMP
 biological_processGO:0051016 barbed-end actin filament capping IEA
 biological_processGO:0051693 actin filament capping IEA
 biological_processGO:0061028 establishment of endothelial barrier IGI
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:0097067 cellular response to thyroid hormone stimulus ISS
 biological_processGO:1900027 regulation of ruffle assembly IMP
 biological_processGO:1900087 positive regulation of G1/S transition of mitotic cell cycle ISS
 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:1903392 negative regulation of adherens junction organization IMP
 biological_processGO:2000643 positive regulation of early endosome to late endosome transport IGI
 cellular_componentGO:0001726 ruffle IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0005902 microvillus ISS
 cellular_componentGO:0005913 cell-cell adherens junction IEA
 cellular_componentGO:0005925 focal adhesion IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0030027 lamellipodium ISS
 cellular_componentGO:0030175 filopodium ISS
 cellular_componentGO:0030315 T-tubule IEA
 cellular_componentGO:0030496 midbody IEA
 cellular_componentGO:0030864 cortical actin cytoskeleton ISS
 cellular_componentGO:0032154 cleavage furrow IEA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0045177 apical part of cell IEA
 cellular_componentGO:0051286 cell tip IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071944 cell periphery IDA
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0003779 actin binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0051018 protein kinase A binding ISS
 molecular_functionGO:0051117 ATPase binding IPI


Pathways (from Reactome)
Pathway description
Recycling pathway of L1


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0011476 Profound sensorineural hearing impairment "Complete loss of hearing related to a sensorineural defect." [DDD:dfitzpatrick]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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