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    TMEM209 transmembrane protein 209 [ Homo sapiens (human) ]

    Gene ID: 84928, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM209provided by HGNC
    Official Full Name
    transmembrane protein 209provided by HGNC
    Primary source
    HGNC:HGNC:21898
    See related
    Ensembl:ENSG00000146842 AllianceGenome:HGNC:21898
    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
    NET31
    Summary
    Predicted to be located in Golgi apparatus and nuclear envelope. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.3), testis (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM209 in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130164713..130205406, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131478118..131518796, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (129804553..129845246, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18642 Neighboring gene kelch domain containing 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129780805-129781468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:129781469-129782132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26648 Neighboring gene long intergenic non-protein coding RNA 3008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26649 Neighboring gene uncharacterized LOC124901745 Neighboring gene Sharpr-MPRA regulatory region 12451 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129844685-129845484 Neighboring gene serine rich single-pass membrane protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129912168-129912820 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:129912821-129913472 Neighboring gene Sharpr-MPRA regulatory region 5425 Neighboring gene carboxypeptidase A2

    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 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. Critical function for nuclear envelope protein TMEM209 in human pulmonary carcinogenesis. Fujitomo T, et al. Cancer Res, 2012 Aug 15. PMID 22719065
    2. Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32. Yamada T, et al. Genomics, 2004 Mar. PMID 14962666
    3. Nuclear membrane proteins with potential disease links found by subtractive proteomics. Schirmer EC, et al. Science, 2003 Sep 5. PMID 12958361
    4. Conserved Mitotic Phosphorylation of a Proteasome Subunit Regulates Cell Proliferation. Duan J, et al. Cells, 2021 Nov 8. PMID 34831298, Free PMC Article
    5. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Findings indicate that TMEM209 overexpression and TMEM209-NUP205 interaction are critical drivers of lung cancer proliferation.
      Title: Critical function for nuclear envelope protein TMEM209 in human pulmonary carcinogenesis.
    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of transmembrane protein 209 (TMEM209) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14803

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 209
    Names
    testicular tissue protein Li 202

    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_001301163.2 → NP_001288092.1  transmembrane protein 209 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK027709, BC045618, BC057784, DB021198, HY352956
      Consensus CDS
      CCDS75661.1
      UniProtKB/Swiss-Prot
      Q96SK2
      Related
      ENSP00000417258.1, ENST00000473456.5
      Conserved Domains (1) summary
      pfam09786
      Location:11 → 518
      CytochromB561_N; Cytochrome B561, N terminal

    2. NM_001363478.2 → NP_001350407.1  transmembrane protein 209 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087071, BC045618, BU430476, DB085214, HY352956
      Consensus CDS
      CCDS87547.1
      Related
      ENSP00000419697.1, ENST00000462753.5
      Conserved Domains (1) summary
      pfam09786
      Location:10 → 559
      CytochromB561_N; Cytochrome B561, N terminal

    3. NM_032842.4 → NP_116231.2  transmembrane protein 209 isoform 1

      See identical proteins and their annotated locations for NP_116231.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC087071, AI589217, BC045618
      Consensus CDS
      CCDS47712.1
      UniProtKB/Swiss-Prot
      A4D1L1, Q49A50, Q6PF00, Q8NCH3, Q96SK2, Q96SL6
      UniProtKB/TrEMBL
      A0A140VJX5
      Related
      ENSP00000380747.2, ENST00000397622.7
      Conserved Domains (1) summary
      pfam09786
      Location:11 → 560
      CytochromB561_N; Cytochrome B561, N terminal

    RNA

    1. NR_156699.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC045618, BF930310, HY352956

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      130164713..130205406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      131478118..131518796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SK2.2 GenPept UniProtKB/Swiss-Prot:Q96SK2

    Gene LinkOut

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

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