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TM6SF2 transmembrane 6 superfamily member 2 [ Homo sapiens (human) ]

Gene ID: 53345, updated on 3-May-2025
Official Symbol
TM6SF2provided by HGNC
Official Full Name
transmembrane 6 superfamily member 2provided by HGNC
Primary source
HGNC:HGNC:11861
See related
Ensembl:ENSG00000213996 MIM:606563; AllianceGenome:HGNC:11861
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, May 2025]
Expression
Biased expression in duodenum (RPKM 49.9), small intestine (RPKM 45.9) and 1 other tissue See more
Orthologs
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See TM6SF2 in Genome Data Viewer
Location:
19p13.11
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19264366..19273301, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19401816..19410753, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19375175..19384110, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene Neighboring gene hyaluronan and proteoglycan link protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19380555-19381056 Neighboring gene SURP and G-patch domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19431454-19432425 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:19446492-19447691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19447717-19448218 Neighboring gene MAU2 sister chromatid cohesion factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19452846-19453354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19459741-19460241 Neighboring gene uncharacterized LOC124904656

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: HAPLN4

Clone Names

  • KIAA1926

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum-Golgi intermediate compartment membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum-Golgi intermediate compartment membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
transmembrane 6 superfamily member 2

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001001524.3NP_001001524.2  transmembrane 6 superfamily member 2

    See identical proteins and their annotated locations for NP_001001524.2

    Status: VALIDATED

    Source sequence(s)
    AC003967, AF255923, AK097070, DA930032
    Consensus CDS
    CCDS42528.1
    UniProtKB/Swiss-Prot
    Q0IJ64, Q9BZW4
    Related
    ENSP00000374014.2, ENST00000389363.5
    Conserved Domains (1) summary
    cd21106
    Location:7361
    TM6SF1-like; transmembrane 6 superfamily member 1, member 2, and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    19264366..19273301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19401816..19410753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_203510.1: Suppressed sequence

    Description
    NM_203510.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.