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TM7SF2 transmembrane 7 superfamily member 2 [ Homo sapiens (human) ]

Gene ID: 7108, updated on 7-Jun-2020

Summary

Official Symbol
TM7SF2provided by HGNC
Official Full Name
transmembrane 7 superfamily member 2provided by HGNC
Primary source
HGNC:HGNC:11863
See related
Ensembl:ENSG00000149809 MIM:603414
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
Also known as
ANG1; C14SR; NET47; DHCR14A
Expression
Broad expression in adrenal (RPKM 80.1), fat (RPKM 50.5) and 20 other tissues See more
Orthologs

Genomic context

See TM7SF2 in Genome Data Viewer
Location:
11q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65111854..65116408)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64879326..64883707)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cell division cycle associated 5 Neighboring gene zinc finger protein like 1 Neighboring gene transmembrane protein 262 Neighboring gene VPS51 subunit of GARP complex Neighboring gene Sharpr-MPRA regulatory region 3974 Neighboring gene zinc finger HIT-type containing 2 Neighboring gene FAU ubiquitin like and ribosomal protein S30 fusion

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
delta14-sterol reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
delta14-sterol reductase activity TAS
Traceable Author Statement
more info
 
oxidoreductase activity, acting on the CH-CH group of donors IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
delta(14)-sterol reductase TM7SF2
Names
3-beta-hydroxysterol Delta (14)-reductase
C-14 sterol reductase
another new gene 1 protein
delta(14)-sterol reductase
delta-14-SR
putative sterol reductase SR-1
sterol C14-reductase
NP_001264162.1
NP_003264.2

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_001277233.1NP_001264162.1  delta(14)-sterol reductase TM7SF2 isoform 2

    See identical proteins and their annotated locations for NP_001264162.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AP003068, BC009052, BC038353
    Consensus CDS
    CCDS60846.1
    UniProtKB/Swiss-Prot
    O76062
    Related
    ENSP00000329520.6, ENST00000345348.9
    Conserved Domains (1) summary
    cl21511
    Location:73391
    PEMT; Phospholipid methyltransferase
  2. NM_003273.6NP_003264.2  delta(14)-sterol reductase TM7SF2 isoform 1

    See identical proteins and their annotated locations for NP_003264.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AP003068
    Consensus CDS
    CCDS41669.1
    UniProtKB/Swiss-Prot
    O76062
    UniProtKB/TrEMBL
    A0A024R577
    Related
    ENSP00000279263.7, ENST00000279263.13
    Conserved Domains (1) summary
    cl21511
    Location:73418
    PEMT; Phospholipid methyltransferase

RNA

  1. NR_102367.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK296441, AP003068, BC009052, BC038353
    Related
    ENST00000529601.5

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    65111854..65116408
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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