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    TLCD2 TLC domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 727910, updated on 23-Nov-2021

    Summary

    Official Symbol
    TLCD2provided by HGNC
    Official Full Name
    TLC domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:33522
    See related
    Ensembl:ENSG00000185561
    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
    Broad expression in fat (RPKM 9.2), colon (RPKM 5.9) and 17 other tissues See more
    Orthologs
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    Genomic context

    See TLCD2 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (1702816..1710377, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1606110..1613671, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Rab interacting lysosomal protein Neighboring gene pre-mRNA processing factor 8 Neighboring gene MIR22 host gene Neighboring gene microRNA 22 Neighboring gene WD repeat domain 81

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in membrane assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in membrane assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phospholipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plasma membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in plasma membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of membrane lipid distribution IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of membrane lipid distribution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    TLC domain-containing protein 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_001164407.2NP_001157879.1  TLC domain-containing protein 2

      See identical proteins and their annotated locations for NP_001157879.1

      Status: VALIDATED

      Source sequence(s)
      AC130343
      Consensus CDS
      CCDS45567.1
      UniProtKB/Swiss-Prot
      A6NGC4
      Related
      ENSP00000331965.6, ENST00000330676.8
      Conserved Domains (1) summary
      smart00724
      Location:34223
      TLC; TRAM, LAG1 and CLN8 homology domains

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      1702816..1710377 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187611.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      132844..140405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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