Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53345
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane 6 superfamily member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TM6SF2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IDA 24927523
GO:0006629 Process Lipid metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606563 11861 ENSG00000213996
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29632382
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction 24633158 ClinVar
Non-alcoholic Fatty Liver Disease Non-alcoholic Fatty Liver Disease GWAS
Diabetes Diabetes GWAS
Hyperlipidemia Hyperlipidemia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 30727943
Carcinoma Hepatocellular Associate 28407767, 30912093, 32247823, 32762045, 33248170, 34823063, 34902334, 36303185, 39215018, 40065199
Cardiovascular Diseases Associate 28539357, 33170809, 35085396, 35710086
Chemical and Drug Induced Liver Injury Associate 33170809, 33179077
Coronary Artery Disease Inhibit 29083408
Coronary Disease Associate 32093693
Diabetes Mellitus Associate 28539357, 32329579, 34656649
Diabetes Mellitus Type 2 Associate 28539357
Embolism Fat Associate 26457389
Fat Necrosis Associate 27836992, 36028802