Gene Gene information from NCBI Gene database.
Entrez ID 57458
Gene name Transmembrane and coiled-coil domain family 3
Gene symbol TMCC3
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q22
miRNA miRNA information provided by mirtarbase database.
252
miRTarBase ID miRNA Experiments Reference
MIRT017797 hsa-miR-335-5p Microarray 18185580
MIRT050114 hsa-miR-26a-5p CLASH 23622248
MIRT049619 hsa-miR-92a-3p CLASH 23622248
MIRT447759 hsa-miR-548ac PAR-CLIP 22100165
MIRT447758 hsa-miR-548bb-3p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24454821, 28514442, 32296183, 33961781
GO:0005783 Component Endoplasmic reticulum IDA 27697108
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0012505 Component Endomembrane system IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617459 29199 ENSG00000057704
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULS5
Protein name Transmembrane and coiled-coil domain protein 3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10267 Tmemb_cc2 65 465 Predicted transmembrane and coiled-coil 2 protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in brain, spinal cord and testis. {ECO:0000269|PubMed:27697108}.
Sequence
Sequence length 477
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 29367434
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 38042639 Associate
★☆☆☆☆
Found in Text Mining only