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

Gene ID: 7108, updated on 11-Apr-2024

Summary

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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; AllianceGenome:HGNC:11863
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
Summary
Enables delta14-sterol reductase activity. Involved in cholesterol biosynthetic process. Located in endoplasmic reticulum. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal (RPKM 80.1), fat (RPKM 50.5) and 20 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65111872..65116230)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65105151..65109509)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64879344..64883702)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64857368-64857540 Neighboring gene transmembrane protein 262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64863491-64864285 Neighboring gene VPS51 subunit of GARP complex Neighboring gene Sharpr-MPRA regulatory region 6888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64877599-64878526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64878527-64879452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64882956-64883501 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64883502-64884046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64884593-64885136 Neighboring gene Sharpr-MPRA regulatory region 3974 Neighboring gene zinc finger HIT-type containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4943 Neighboring gene FAU ubiquitin like and ribosomal protein S30 fusion

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants. Prakash A, et al. J Biosci, 2002 Mar. PMID 11937680
  2. Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13. Lemmens IH, et al. Genomics, 1998 May 1. PMID 9615229
  3. Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box. Schiavoni G, et al. Biochim Biophys Acta, 2010 May. PMID 20138239
  4. Cloning and expression of sterol Delta 14-reductase from bovine liver. Roberti R, et al. Eur J Biochem, 2002 Jan. PMID 11784322
  5. Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally. Capell-Hattam IM, et al. J Biol Chem, 2020 Feb 28. PMID 31911440, Free PMC Article

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally.
    Title: Twin enzymes, divergent control: The cholesterogenic enzymes DHCR14 and LBR are differentially regulated transcriptionally and post-translationally.
  2. Data suggest that, besides the SRE motif, both the inverted CCAAT-box and GC-box2 are essential for full TM7SF2 promoter activation by SREBP-2.
    Title: Activation of TM7SF2 promoter by SREBP-2 depends on a new sterol regulatory element, a GC-box, and an inverted CCAAT-box.
  3. LBR mutant variants and sterol reductases can severely interfere with the regular organization of the nuclear envelope and the endoplasmic reticulum.
    Title: Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
  5. Results show that the TM7SF2 gene product SR-1 and six chimeras containing SR-1 and Neurospora erg-3 sequences fail to complement sterol c-14 reductase mutants in Neurospora and yeast.
    Title: Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants.
  6. a primary role in human cholesterol biosynthesis
    Title: Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables delta14-sterol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables delta14-sterol reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables delta14-sterol reductase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
part_of receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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-SR
putative sterol reductase SR-1
sterol C14-reductase
NP_001264162.1
NP_003264.2

NCBI Reference Sequences (RefSeq)

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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_001277233.2 → NP_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
    Consensus CDS
    CCDS60846.1
    UniProtKB/Swiss-Prot
    O76062
    Related
    ENSP00000329520.6, ENST00000345348.9
    Conserved Domains (1) summary
    cl21511
    Location:73 → 391
    PEMT; Phospholipid methyltransferase

  2. NM_003273.6 → NP_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
    A8K4H0, O76062, O95982, Q8IY06, Q96E64, Q96GZ1
    Related
    ENSP00000279263.7, ENST00000279263.14
    Conserved Domains (1) summary
    cl21511
    Location:73 → 418
    PEMT; Phospholipid methyltransferase

RNA

  1. NR_102367.2 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)
    AP003068
    Related
    ENST00000529601.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65111872..65116230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65105151..65109509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O76062.3 GenPept UniProtKB/Swiss-Prot:O76062

Gene LinkOut

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