Gene Gene information from NCBI Gene database.
Entrez ID 23023
Gene name Transmembrane and coiled-coil domain family 1
Gene symbol TMCC1
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3q22.1
miRNA miRNA information provided by mirtarbase database.
1016
miRTarBase ID miRNA Experiments Reference
MIRT023737 hsa-miR-1-3p Microarray 18668037
MIRT027104 hsa-miR-103a-3p Sequencing 20371350
MIRT031658 hsa-miR-16-5p Sequencing 20371350
MIRT565370 hsa-miR-221-3p PAR-CLIP 20371350
MIRT565369 hsa-miR-222-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24454821
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005791 Component Rough endoplasmic reticulum IMP 24454821
GO:0005829 Component Cytosol IMP 24454821
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616242 29116 ENSG00000172765
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94876
Protein name Transmembrane and coiled-coil domains protein 1
Protein function Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission (PubMed:30220460). Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endopla
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10267 Tmemb_cc2 231 640 Predicted transmembrane and coiled-coil 2 protein Coiled-coil
Sequence
Sequence length 653
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29047230, 30122881, 32481346, 36003068, 36849926, 38185671 Associate
★☆☆☆☆
Found in Text Mining only