ENSG00000112773


Homo sapiens

Features
Gene ID: ENSG00000112773
  
Biological name :FAM46A
  
Synonyms : FAM46A / family with sequence similarity 46 member A / Q96IP4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: q14.1
Gene start: 81491439
Gene end: 81752774
  
Corresponding Affymetrix probe sets: 221766_s_at (Human Genome U133 Plus 2.0 Array)   224973_at (Human Genome U133 Plus 2.0 Array)   229737_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000401884
Ensembl peptide - ENSP00000404872
Ensembl peptide - ENSP00000318298
Ensembl peptide - ENSP00000358769
Ensembl peptide - ENSP00000358771
NCBI entrez gene - 55603     See in Manteia.
OMIM - 611357
RefSeq - NM_017633
RefSeq Peptide - NP_060103
swissprot - H0Y6D7
swissprot - H0Y5Y3
swissprot - Q5TF85
swissprot - Q96IP4
Ensembl - ENSG00000112773
  
Related genetic diseases (OMIM): 617952 - Osteogenesis imperfecta, type XVIII, 617952
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
 FAM46AENSDARG00000116442Danio rerio
 fam46abENSDARG00000054641Danio rerio
 FAM46AENSGALG00000035903Gallus gallus
 Fam46aENSMUSG00000032265Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FAM46C / Q5VWP2 / family with sequence similarity 46 member CENSG0000018350863
FAM46B / Q96A09 / family with sequence similarity 46 member BENSG0000015824656
FAM46D / Q8NEK8 / family with sequence similarity 46 member DENSG0000017401652


Protein motifs (from Interpro)
Interpro ID Name
 IPR012937  FAM46 family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 molecular_functionGO:0003723 RNA binding HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity 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:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000592 Blue sclerae 
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 HP:0000883 Thin ribs 
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 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0002645 Wormian bones 
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 HP:0002753 Thin bony cortex "Abnormal thinning of the cortical region of bones." [HPO:curators]
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 HP:0002757 Recurrent fractures "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators]
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 HP:0002980 Femoral bowing "Bowing (abnormal curvature) of the femur." [HPO:curators]
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 HP:0004586 Biconcave vertebral bodies 
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 HP:0040160 Generalized osteoporosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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