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TMEM208 transmembrane protein 208 [ Homo sapiens (human) ]

Gene ID: 29100, updated on 21-Dec-2019

Summary

Official Symbol
TMEM208provided by HGNC
Official Full Name
transmembrane protein 208provided by HGNC
Primary source
HGNC:HGNC:25015
See related
Ensembl:ENSG00000168701
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
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

Genomic context

See TMEM208 in Genome Data Viewer
Location:
16q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67227130..67229278)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67261006..67263182)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene engulfment and cell motility 3 Neighboring gene microRNA 328 Neighboring gene leucine rich repeat containing 29 Neighboring gene formin homology 2 domain containing 1 Neighboring gene solute carrier family 9 member A5

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
vacuolar protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
vacuole IEA
Inferred from Electronic Annotation
more info
 

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_001318217.2NP_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/Swiss-Prot
    Q9BTX3
    UniProtKB/TrEMBL
    J3KRY7
    Related
    ENSP00000462217.1, ENST00000563953.5
    Conserved Domains (1) summary
    pfam05620
    Location:186
    DUF788; Protein of unknown function (DUF788)
  2. NM_014187.4NP_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
    Q9BTX3
    Related
    ENSP00000305892.9, ENST00000304800.14
    Conserved Domains (1) summary
    pfam05620
    Location:9156
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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