ENSG00000196116


Homo sapiens

Features
Gene ID: ENSG00000196116
  
Biological name :TDRD7
  
Synonyms : Q8NHU6 / TDRD7 / tudor domain containing 7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q22.33
Gene start: 97411950
Gene end: 97496125
  
Corresponding Affymetrix probe sets: 213361_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000347444
NCBI entrez gene - 23424     See in Manteia.
OMIM - 611258
RefSeq - XM_006717026
RefSeq - NM_001302884
RefSeq - NM_014290
RefSeq Peptide - NP_055105
RefSeq Peptide - NP_001289813
swissprot - Q8NHU6
Ensembl - ENSG00000196116
  
Related genetic diseases (OMIM): 613887 - Cataract 36, 613887
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
 E7FDW8ENSDARG00000077523Danio rerio
 tdrd7aENSDARG00000032808Danio rerio
 TDRD7ENSGALG00000012350Gallus gallus
 Tdrd7ENSMUSG00000035517Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR002999  Tudor domain
 IPR025605  OST-HTH/LOTUS domain
 IPR035437  SNase-like, OB-fold superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002089 lens morphogenesis in camera-type eye IMP
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0010608 posttranscriptional regulation of gene expression IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0070306 lens fiber cell differentiation IMP
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0033391 chromatoid body ISS
 cellular_componentGO:0035770 ribonucleoprotein granule IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003729 mRNA binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0047485 protein N-terminus 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: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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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