ENSG00000008226


Homo sapiens

Features
Gene ID: ENSG00000008226
  
Biological name :DLEC1
  
Synonyms : deleted in lung and esophageal cancer 1 / DLEC1 / Q9Y238
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p22.2
Gene start: 38039205
Gene end: 38124025
  
Corresponding Affymetrix probe sets: 206798_x_at (Human Genome U133 Plus 2.0 Array)   207896_s_at (Human Genome U133 Plus 2.0 Array)   215085_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000308597
Ensembl peptide - ENSP00000315914
Ensembl peptide - ENSP00000404261
NCBI entrez gene - 9940     See in Manteia.
OMIM - 604050
RefSeq - XM_011534318
RefSeq - NM_001321153
RefSeq - NM_007335
RefSeq - NM_007337
RefSeq - XM_006713438
RefSeq - XM_006713439
RefSeq - XM_006713440
RefSeq - XM_011534317
RefSeq Peptide - NP_001308082
RefSeq Peptide - NP_031361
RefSeq Peptide - NP_031363
swissprot - Q32W76
swissprot - Q9Y238
Ensembl - ENSG00000008226
  
Related genetic diseases (OMIM): 133239 - Esophageal cancer, 133239
  211980 - Lung cancer, 211980
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
 dlec1ENSDARG00000075825Danio rerio
 DLEC1ENSGALG00000005826Gallus gallus
 Dlec1ENSMUSG00000038060Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR013783  Immunoglobulin-like fold
 IPR033304  Deleted in lung and esophageal cancer protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008285 negative regulation of cell proliferation TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 molecular_functionGO:0003674 molecular_function ND


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: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:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
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 HP:0001864 Fifth toe clinodactyly 
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 HP:0002017 Nausea and vomiting 
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 HP:0002716 Lymphadenopathy 
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 HP:0002860 Squamous cell carcinoma 
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0008872 Feeding problems in infancy 
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 HP:0011459 Esophageal carcinoma "The presence of a `carcinoma` (MPATH:549) of the `esophagus` (FMA:7131)." [DDD:hfirth]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0100749 Chest pain 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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