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

Gene ID: 53345, updated on 5-Jul-2020

Summary

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
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
Expression
Biased expression in duodenum (RPKM 49.9), small intestine (RPKM 45.9) and 1 other tissue See more
Orthologs

Genomic context

See TM6SF2 in Genome Data Viewer
Location:
19p13.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19264366..19273301, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19374841..19384074, 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 SURP and G-patch domain containing 1 Neighboring gene MAU2 sister chromatid cohesion factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: HAPLN4

Homology

Clone Names

  • KIAA1926

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane 6 superfamily member 2

NCBI Reference Sequences (RefSeq)

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
    Q9BZW4
    UniProtKB/TrEMBL
    Q8N8A7
    Related
    ENSP00000374014.2, ENST00000389363.5
    Conserved Domains (1) summary
    pfam10914
    Location:218357
    DUF2781; Protein of unknown function (DUF2781)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    19264366..19273301 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.
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