ENSG00000111913


Homo sapiens

Features
Gene ID: ENSG00000111913
  
Biological name :RIPOR2
  
Synonyms : Q9Y4F9 / RHO family interacting cell polarization regulator 2 / RIPOR2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p22.3
Gene start: 24804281
Gene end: 25042170
  
Corresponding Affymetrix probe sets: 206707_x_at (Human Genome U133 Plus 2.0 Array)   209829_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495245
Ensembl peptide - ENSP00000494904
Ensembl peptide - ENSP00000495879
Ensembl peptide - ENSP00000496721
Ensembl peptide - ENSP00000495914
Ensembl peptide - ENSP00000259698
Ensembl peptide - ENSP00000367262
Ensembl peptide - ENSP00000438425
Ensembl peptide - ENSP00000441138
Ensembl peptide - ENSP00000441305
Ensembl peptide - ENSP00000482957
Ensembl peptide - ENSP00000493881
Ensembl peptide - ENSP00000493948
Ensembl peptide - ENSP00000494150
Ensembl peptide - ENSP00000494268
NCBI entrez gene - 9750     See in Manteia.
OMIM - 611410
RefSeq - XM_017011527
RefSeq - XM_006715275
RefSeq - XM_006715277
RefSeq - XM_006715279
RefSeq - XM_006715281
RefSeq - XM_011515007
RefSeq - XM_011515008
RefSeq - XM_011515009
RefSeq - XM_011515010
RefSeq - XM_011515012
RefSeq - XM_017011523
RefSeq - XM_017011524
RefSeq - XM_017011525
RefSeq - XM_017011526
RefSeq - NM_001286445
RefSeq - NM_001286446
RefSeq - NM_001286447
RefSeq - NM_001346031
RefSeq - NM_001346032
RefSeq - NM_014722
RefSeq - NM_015864
RefSeq Peptide - NP_001273375
RefSeq Peptide - NP_001273376
RefSeq Peptide - NP_001332960
RefSeq Peptide - NP_001332961
RefSeq Peptide - NP_055537
RefSeq Peptide - NP_056948
RefSeq Peptide - NP_001273374
swissprot - A0A024R028
swissprot - F5GX51
swissprot - F5H029
swissprot - A0A024QZY9
swissprot - B7Z6U4
swissprot - Q9Y4F9
Ensembl - ENSG00000111913
  
Related genetic diseases (OMIM): 616515 - ?Deafness, autosomal recessive 104, 616515
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
 Q1LU99ENSDARG00000061752Danio rerio
 ENSGALG00000041452Gallus gallus
 FAM65BENSGALG00000013624Gallus gallus
 Q80U16ENSMUSG00000036006Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6ZS17 / RIPOR1 / RHO family interacting cell polarization regulator 1ENSG0000003952338
Q96MK2 / RIPOR3 / RIPOR family member 3ENSG0000004206233
AL512428.1ENSG000002828046


Protein motifs (from Interpro)
Interpro ID Name
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR026136  RIPOR family member 3
 IPR031780  FAM65, N-terminal
 IPR033035  Rho family-interacting cell polarization regulator 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007162 negative regulation of cell adhesion ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0009968 negative regulation of signal transduction IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035024 negative regulation of Rho protein signal transduction ISS
 biological_processGO:0045184 establishment of protein localization IEA
 biological_processGO:0045663 positive regulation of myoblast differentiation IMP
 biological_processGO:0048741 skeletal muscle fiber development IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051491 positive regulation of filopodium assembly IMP
 biological_processGO:0060088 auditory receptor cell stereocilium organization IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0090023 positive regulation of neutrophil chemotaxis ISS
 biological_processGO:1901741 positive regulation of myoblast fusion IMP
 biological_processGO:1903904 negative regulation of establishment of T cell polarity IMP
 biological_processGO:1905872 negative regulation of protein localization to cell leading edge ISS
 biological_processGO:1990869 cellular response to chemokine IDA
 biological_processGO:2000114 regulation of establishment of cell polarity ISS
 biological_processGO:2000391 positive regulation of neutrophil extravasation ISS
 biological_processGO:2000405 negative regulation of T cell migration IMP
 biological_processGO:2001107 negative regulation of Rho guanyl-nucleotide exchange factor activity ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0032420 stereocilium ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060171 stereocilium membrane IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0071889 14-3-3 protein binding IDA


Pathways (from Reactome)
Pathway description
No match


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:0000399 Deafness, sensorineural, prelingual, profound 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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