TLCD3A (TLC domain containing 3A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 79850
Gene name TLC domain containing 3A
Gene symbol TLCD3A
Synonyms (NCBI Gene)
CT120FAM57A
Chromosome 17
Chromosome location 17p13.3
Summary The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2)
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12270127
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005886 Component Plasma membrane IDA 12270127
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611627 29646 ENSG00000167695
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TBR7
Protein name TLC domain-containing protein 3A (Protein CT120) (Protein FAM57A)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03798 TRAM_LAG1_CLN8 37 → 242 TLC domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas. Detected at intermediate levels in heart, placenta and kidney, and at low levels in brain, liver and skeletal muscle. Not detected in normal lung. {ECO:0000269|PubMed:12270127}.
Sequence
Sequence length 257
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Fraser syndrome 3 Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma of lung Lung carcinoma BEFREE 15625016, 20024628
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 36291175 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms BEFREE 15625016
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 15625016, 20024628
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 15625016
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 15625016
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 21118967 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 32343676, 34445492, 36443337 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Uterine neoplasm Pubtator 36291175 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only