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TMEM208 transmembrane protein 208 [ Homo sapiens (human) ]

Gene ID: 29100, updated on 9-Apr-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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Location:
16q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67227130..67229278)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73021414..73023562)
105.20220307 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. 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
  2. hSnd2 protein represents an alternative targeting factor to the endoplasmic reticulum in human cells. Haßdenteufel S, et al. FEBS Lett, 2017 Oct. PMID 28862756
  3. 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
  4. 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
  5. Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6. Talbot BE, et al. J Biol Chem, 2019 Aug 23. PMID 31266804, Free PMC Article

See all (14) 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)

Genotypes

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 IEA
Inferred from Electronic Annotation
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_2023_10

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

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