ENSG00000155816


Homo sapiens

Features
Gene ID: ENSG00000155816
  
Biological name :FMN2
  
Synonyms : FMN2 / formin 2 / Q9NZ56
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q43
Gene start: 240014348
Gene end: 240475189
  
Corresponding Affymetrix probe sets: 1555471_a_at (Human Genome U133 Plus 2.0 Array)   1559244_at (Human Genome U133 Plus 2.0 Array)   223618_at (Human Genome U133 Plus 2.0 Array)   230946_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000439136
Ensembl peptide - ENSP00000318884
Ensembl peptide - ENSP00000388922
Ensembl peptide - ENSP00000409308
Ensembl peptide - ENSP00000437918
NCBI entrez gene - 56776     See in Manteia.
OMIM - 606373
RefSeq - XM_017001843
RefSeq - NM_001305424
RefSeq - NM_020066
RefSeq - XM_017001839
RefSeq - XM_017001840
RefSeq - XM_017001841
RefSeq - XM_017001842
RefSeq Peptide - NP_001292353
RefSeq Peptide - NP_064450
swissprot - B0QZA8
swissprot - Q2M1H5
swissprot - A0A0A0MTF8
swissprot - Q9NZ56
swissprot - B0QZD5
Ensembl - ENSG00000155816
  
Related genetic diseases (OMIM): 616193 - Mental retardation, autosomal recessive 47, 616193
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
 fmn2aENSDARG00000023318Danio rerio
 fmn2bENSDARG00000061778Danio rerio
 FMN2ENSGALG00000031427Gallus gallus
 Fmn2ENSMUSG00000028354Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FMN1 / Q68DA7 / formin 1ENSG0000024890527
FHOD3 / Q2V2M9 / formin homology 2 domain containing 3ENSG0000013477515
A4D2P6 / GRID2IP / Grid2 interacting proteinENSG0000021504511
FHOD1 / Q9Y613 / formin homology 2 domain containing 1ENSG0000013572311


Protein motifs (from Interpro)
Interpro ID Name
 IPR000591  DEP domain
 IPR001265  Formin homology family, Cappuccino subfamily
 IPR009408  Formin Homology 1
 IPR015425  Formin, FH2 domain
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0016344 meiotic chromosome movement towards spindle pole IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0040038 polar body extrusion after meiotic divisions IEA
 biological_processGO:0042177 negative regulation of protein catabolic process IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045010 actin nucleation IEA
 biological_processGO:0046907 intracellular transport IEA
 biological_processGO:0048477 oogenesis IEA
 biological_processGO:0051017 actin filament bundle assembly IEA
 biological_processGO:0051295 establishment of meiotic spindle localization IEA
 biological_processGO:0051758 homologous chromosome movement towards spindle pole involved in homologous chromosome segregation IEA
 biological_processGO:0070649 formin-nucleated actin cable assembly IEA
 biological_processGO:0071456 cellular response to hypoxia IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005884 actin filament IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0005938 cell cortex ISS
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane ISS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008017 microtubule binding IEA


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:0001249 Mental retardation 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002384 Complex partial seizures "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators]
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 HP:0002465 Poor speech 
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 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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