ENSG00000166326


Homo sapiens

Features
Gene ID: ENSG00000166326
  
Biological name :TRIM44
  
Synonyms : Q96DX7 / TRIM44 / tripartite motif containing 44
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p13
Gene start: 35662805
Gene end: 35818007
  
Corresponding Affymetrix probe sets: 1556319_at (Human Genome U133 Plus 2.0 Array)   217759_at (Human Genome U133 Plus 2.0 Array)   217760_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000299413
NCBI entrez gene - 54765     See in Manteia.
OMIM - 612298
RefSeq - NM_017583
RefSeq - XM_006718254
RefSeq Peptide - NP_060053
swissprot - Q96DX7
Ensembl - ENSG00000166326
  
Related genetic diseases (OMIM): 617142 - ?Aniridia 3, 617142
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
 trim44ENSDARG00000051761Danio rerio
 Trim44ENSMUSG00000027189Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000315  B-box-type zinc finger
 IPR013083  Zinc finger, RING/FYVE/PHD-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001961 positive regulation of cytokine-mediated signaling pathway IDA
 biological_processGO:0002230 positive regulation of defense response to virus by host IDA
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0061944 negative regulation of protein K48-linked ubiquitination IDA
 biological_processGO:1901224 positive regulation of NIK/NF-kappaB signaling IDA
 cellular_componentGO:0005622 intracellular IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


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:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [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:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
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 HP:0000529 Progressive visual loss 
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 HP:0000572 Visual loss 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000659 Peters anomaly 
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 HP:0008059 Aplasia/Hypoplasia of the macula 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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