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

    Gene ID: 7108, updated on 12-Aug-2018

    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; Vega:OTTHUMG00000165603
    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; 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 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (65111854..65116235)
    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, GARP complex subunit Neighboring gene zinc finger HIT-type containing 2 Neighboring gene mitochondrial ribosomal protein L49 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    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 TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    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
    Names
    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)

    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 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, OTTHUMP00000230410, ENST00000345348.9, OTTHUMT00000385242
      Conserved Domains (1) summary
      cl21511
      Location:73391
      PEMT; Phospholipid methyltransferase
    2. NM_003273.3NP_003264.2  delta(14)-sterol reductase isoform 1

      See identical proteins and their annotated locations for NP_003264.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK290935, AP003068, BC009052, BC038353, BG771219
      Consensus CDS
      CCDS41669.1
      UniProtKB/Swiss-Prot
      O76062
      UniProtKB/TrEMBL
      A0A024R577
      Related
      ENSP00000279263.7, OTTHUMP00000230405, ENST00000279263.11, OTTHUMT00000385234
      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, OTTHUMT00000385240

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      65111854..65116235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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