ENSG00000149781


Homo sapiens

Features
Gene ID: ENSG00000149781
  
Biological name :FERMT3
  
Synonyms : fermitin family member 3 / FERMT3 / Q86UX7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.1
Gene start: 64206678
Gene end: 64223886
  
Corresponding Affymetrix probe sets: 223303_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000339950
Ensembl peptide - ENSP00000440209
Ensembl peptide - ENSP00000445778
Ensembl peptide - ENSP00000279227
Ensembl peptide - ENSP00000438885
NCBI entrez gene - 83706     See in Manteia.
OMIM - 607901
RefSeq - XM_017018399
RefSeq - NM_031471
RefSeq - NM_178443
RefSeq - XM_011545294
RefSeq - XM_011545295
RefSeq - XM_017018398
RefSeq Peptide - NP_848537
RefSeq Peptide - NP_113659
swissprot - F5H3I6
swissprot - H0YFT5
swissprot - Q86UX7
swissprot - F5H1C6
Ensembl - ENSG00000149781
  
Related genetic diseases (OMIM): 612840 - Leukocyte adhesion deficiency, type III, 612840
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
 fermt3bENSDARG00000030938Danio rerio
 im:7154036ENSDARG00000079267Danio rerio
 Fermt3ENSMUSG00000024965Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FERMT1 / Q9BQL6 / fermitin family member 1ENSG0000010131153
FERMT2 / Q96AC1 / fermitin family member 2ENSG0000007371252


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR019748  FERM central domain
 IPR019749  Band 4.1 domain
 IPR035963  FERM superfamily, second domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007159 leukocyte cell-cell adhesion IEA
 biological_processGO:0007229 integrin-mediated signaling pathway IEA
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:0033622 integrin activation IEA
 biological_processGO:0033632 regulation of cell-cell adhesion mediated by integrin IEA
 biological_processGO:0034446 substrate adhesion-dependent cell spreading IMP
 biological_processGO:0070527 platelet aggregation IEA
 cellular_componentGO:0002102 podosome ISS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005178 integrin binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation


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:0000421 Epistaxis 
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 HP:0000967 Petechiae 
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001482 Subcutaneous nodules 
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 HP:0001581 Recurrent skin infections "Infections of the skin that happen multiple times." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001872 Abnormality of thrombocytes 
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 HP:0001903 Anemia 
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 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
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 HP:0001978 Extramedullary hematopoiesis 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002733 Abnormality of the lymph nodes 
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 HP:0003593 Early onset 
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 HP:0011002 Osteopetrosis 
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 HP:0012531 Pain "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432]
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 HP:0100806 Sepsis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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