ENSG00000189057


Homo sapiens

Features
Gene ID: ENSG00000189057
  
Biological name :FAM111B
  
Synonyms : FAM111B / family with sequence similarity 111 member B / Q6SJ93
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q12.1
Gene start: 59107185
Gene end: 59127410
  
Corresponding Affymetrix probe sets: 1557128_at (Human Genome U133 Plus 2.0 Array)   1557129_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000432143
Ensembl peptide - ENSP00000483456
Ensembl peptide - ENSP00000432875
Ensembl peptide - ENSP00000341565
Ensembl peptide - ENSP00000393855
NCBI entrez gene - 374393     See in Manteia.
OMIM - 615584
RefSeq - NM_001142703
RefSeq - NM_001142704
RefSeq - NM_198947
RefSeq Peptide - NP_001136176
RefSeq Peptide - NP_001136175
RefSeq Peptide - NP_945185
swissprot - Q6SJ93
swissprot - E9PS27
Ensembl - ENSG00000189057
  
Related genetic diseases (OMIM): 615704 - Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704
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
 FP102192.1ENSDARG00000101104Danio rerio
 si:ch1073-475a24.1ENSDARG00000101556Danio rerio


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96PZ2 / FAM111A / family with sequence similarity 111 member AENSG0000016680129


Protein motifs (from Interpro)
Interpro ID Name
 IPR009003  Peptidase S1, PA clan


Gene Ontology (GO)
TypeGO IDTermEv.Code
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000823 Delayed puberty 
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 HP:0000966 Hypohidrosis "Abnormally diminished capacity to sweat." [HPO:curators]
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 HP:0001029 Poikiloderma 
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 HP:0001055 Erysipelas 
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0002164 Nail dysplasia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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