DELEC1 (deleted in esophageal cancer 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50514
Gene name Gene Name - the full gene name approved by the HGNC.
Deleted in esophageal cancer 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DELEC1
Synonyms (NCBI Gene) Gene synonyms aliases
CTS9, DEC1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
The function of this gene is not known. This gene is located in a region commonly deleted in esophageal squamous cell carcinomas. Gene expression is reduced or absent in these carcinomas and thus this is a candidate tumor suppressor gene for esophageal s
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0008285 Process Negative regulation of cell population proliferation TAS 10612805
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604767 23658 ENSG00000173077
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9P2X7
Protein name Deleted in esophageal cancer 1 (Candidate tumor suppressor CTS9)
Protein function Candidate tumor suppressor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15859 Dec-01 1 → 70 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, with highest expression in prostate and testis. Reduced expression in esophageal carcinomas. {ECO:0000269|PubMed:10612805}.
Sequence
Sequence length 70
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (12)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Crohn Disease Crohn's disease or Leprosy (opposite effect), Crohn's disease N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 33101542
Carcinoma Renal Cell Associate 22517515
Hypoxia Stimulate 18345027
Hypoxia Associate 27840924, 28794399, 28794402
Neoplasms Inhibit 20935061
Neoplasms Associate 27840924, 28794399
Oropharyngeal Neoplasms Associate 20935061
Squamous Cell Carcinoma of Head and Neck Inhibit 20935061