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    TMEM208 transmembrane protein 208 [ Homo sapiens (human) ]

    Gene ID: 29100, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM208provided by HGNC
    Official Full Name
    transmembrane protein 208provided by HGNC
    Primary source
    HGNC:HGNC:25015
    See related
    Ensembl:ENSG00000168701 MIM:620781; AllianceGenome:HGNC:25015
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SND2; hSND2; HSPC171
    Summary
    This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Ubiquitous expression in adrenal (RPKM 19.0), kidney (RPKM 17.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM208 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67227130..67229278)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73021414..73023562)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67261033..67263181)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene engulfment and cell motility 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67241386-67241953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67241954-67242520 Neighboring gene microRNA 328 Neighboring gene F-box and leucine rich repeat protein, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67265259-67265760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67265761-67266260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7594 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:67271286-67272485 Neighboring gene formin homology 2 domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67275498-67276171 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67276172-67276844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10962 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67279559-67280218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67282619-67283120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67283121-67283620 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67287038-67287220 Neighboring gene solute carrier family 9 member A5 Neighboring gene uncharacterized LOC124903701 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67304537-67304794

    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. Exploring the Role and Prognostic Value of TMEM208 in Head and Neck Squamous Cell Carcinoma. Yang J, et al. Asian Pac J Cancer Prev, 2024 Mar 1. PMID 38546073, Free PMC Article
    2. Human SND2 mediates ER targeting of GPI-anchored proteins with low hydrophobic GPI attachment signals. Yang J, et al. FEBS Lett, 2021 Jun. PMID 33838053
    3. hSnd2 protein represents an alternative targeting factor to the endoplasmic reticulum in human cells. Haßdenteufel S, et al. FEBS Lett, 2017 Oct. PMID 28862756
    4. hSnd2/TMEM208 is an HIF-1α-targeted gene and contains a WH2 motif. Lei P, et al. Acta Biochim Biophys Sin (Shanghai), 2020 Mar 18. PMID 32002553
    5. Transmembrane protein 208: a novel ER-localized protein that regulates autophagy and ER stress. Zhao Y, et al. PLoS One, 2013. PMID 23691174, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exploring the Role and Prognostic Value of TMEM208 in Head and Neck Squamous Cell Carcinoma.
      Title: Exploring the Role and Prognostic Value of TMEM208 in Head and Neck Squamous Cell Carcinoma.
    2. Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
      Title: Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.
    3. Snd2 protein represents an alternative targeting factor to the endoplasmic reticulum in human cells.
      Title: hSnd2 protein represents an alternative targeting factor to the endoplasmic reticulum in human cells.
    4. Human SND2 mediates ER targeting of GPI-anchored proteins with low hydrophobic GPI attachment signals.
      Title: Human SND2 mediates ER targeting of GPI-anchored proteins with low hydrophobic GPI attachment signals.
    5. hSnd2/TMEM208 is an HIF-1alpha-targeted gene and contains a WH2 motif.
      Title: hSnd2/TMEM208 is an HIF-1α-targeted gene and contains a WH2 motif.
    6. novel ER-located protein regulates both ER stress and autophagy
      Title: Transmembrane protein 208: a novel ER-localized protein that regulates autophagy and ER stress.
    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)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vacuolar protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in vacuole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 208
    Names
    SRP-independent targeting 2 homolog

    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_001318217.2 → NP_001305146.1  transmembrane protein 208 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      BC021109, BG825054, BI838179
      Consensus CDS
      CCDS81996.1
      UniProtKB/TrEMBL
      J3KRY7
      Related
      ENSP00000462217.1, ENST00000563953.5
      Conserved Domains (1) summary
      pfam05620
      Location:1 → 86
      DUF788; Protein of unknown function (DUF788)

    2. NM_014187.4 → NP_054906.2  transmembrane protein 208 isoform 1

      See identical proteins and their annotated locations for NP_054906.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      BC003080, BI838179
      Consensus CDS
      CCDS45511.1
      UniProtKB/Swiss-Prot
      Q05CT0, Q96D25, Q9BTX3, Q9NZZ7
      Related
      ENSP00000305892.9, ENST00000304800.14
      Conserved Domains (1) summary
      pfam05620
      Location:8 → 156
      DUF788; Protein of unknown function (DUF788)

    RNA

    1. NR_134524.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an 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)
      BC021109, BI833541, BI838179
      Related
      ENST00000562235.5

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67227130..67229278
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73021414..73023562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTX3.1 GenPept UniProtKB/Swiss-Prot:Q9BTX3

    Gene LinkOut

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

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