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

    Gene ID: 7108, updated on 10-Dec-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, Dec 2024]
    Expression
    Broad expression in adrenal (RPKM 80.1), fat (RPKM 50.5) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TM7SF2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65111872..65116230)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65105151..65109509)
    RS_2024_09 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. 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
    2. 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
    3. Cloning and expression of sterol Delta 14-reductase from bovine liver. Roberti R, et al. Eur J Biochem, 2002 Jan. PMID 11784322
    4. 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
    5. Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Lemmens I, et al. Genomics, 1997 Aug 15. PMID 9286704

    See all (25) 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)

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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