Gene Gene information from NCBI Gene database.
Entrez ID 53345
Gene name Transmembrane 6 superfamily member 2
Gene symbol TM6SF2
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
490
miRTarBase ID miRNA Experiments Reference
MIRT487556 hsa-miR-134-3p PAR-CLIP 20371350
MIRT487554 hsa-miR-2277-3p PAR-CLIP 20371350
MIRT487555 hsa-miR-2467-5p PAR-CLIP 20371350
MIRT573791 hsa-miR-6081 PAR-CLIP 20371350
MIRT487553 hsa-miR-7106-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 24927523
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606563 11861 ENSG00000213996
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZW4
Protein name Transmembrane 6 superfamily member 2
Protein function Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content (PubMed:24531328, PubMed:24927523). May function as sterol isomerase (PubMed:25566323). {ECO:0000269|PubMed:24531328, ECO:0000269|PubMed:24927
Family and domains
Tissue specificity TISSUE SPECIFICITY: Substantial expression in liver and intestine, whereas all other tissues analyzed show low levels. {ECO:0000269|PubMed:25566323}.
Sequence
MDIPPLAGKIAALSLSALPVSYALNHVSALSHPLWVALMSALILGLLFVAVYSLSHGEVS
YDPLYAVFAVFAFTSVVDLIIALQEDSYVVGFMEFYTKEGEPYLRTAHGVFICYWDGTVH
YLLYLAMAGAICRRKRYRNFGLYWLGSFAMSILVFLTGNILGKYSSEIRPAFFLTIPYLL
VPCWAGMKVFSQPRALTRCTANMVQEEQRKGLLQRPADLALVIYLILAGFFTLFRGLVVL
DCPTDACFVYIYQYEPYLRDPVAYPKVQMLMYMFYVLPFCGLAAYALTFPGCSWLPDWAL
VFAGGIGQAQFSHMGASMHLRTPFTYRVPEDTWGCFFVCNLLYALGPHLLAYRCLQWPAF
FHQPPPSDPLALHKKQH
Sequence length 377
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL VARICES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERLIPIDEMIA 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
Adenoma of large intestine Colorectal adenoma BEFREE 30727943
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 26676812, 30132178, 30161167, 30289982
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28449094
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28449094
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28407767, 30912093, 32247823, 32762045, 33248170, 34823063, 34902334, 36303185, 39215018, 40065199 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 25251399, 26331730, 26378644, 26756786, 27128911, 29232562, 30174213, 31851849
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 28539357, 33170809, 35085396, 35710086 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease BEFREE 31546054
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 26482880, 26493626, 26676812, 28839198, 29535416, 29895985, 30161167, 30174213
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 26965314, 27206982, 29083408, 31713012
★☆☆☆☆
Found in Text Mining only