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    TMEM214 transmembrane protein 214 [ Homo sapiens (human) ]

    Gene ID: 54867, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TMEM214provided by HGNC
    Official Full Name
    transmembrane protein 214provided by HGNC
    Primary source
    HGNC:HGNC:25983
    See related
    Ensembl:ENSG00000119777 MIM:615301; AllianceGenome:HGNC:25983
    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
    Summary
    Predicted to be involved in apoptotic process. Located in several cellular components, including Golgi apparatus; cytoplasmic microtubule; and endoplasmic reticulum. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 25.1), thyroid (RPKM 23.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM214 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27032965..27041694)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27074650..27083376)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27255833..27264562)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11278 Neighboring gene microtubule associated protein RP/EB family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15481 Neighboring gene MAPRE3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27247061-27247851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15482 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27261678-27262877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15484 Neighboring gene tRNA-Tyr (anticodon GTA) 2-1 Neighboring gene AGBL5 antisense RNA 1 Neighboring gene AGBL carboxypeptidase 5

    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. Transmembrane Protein 214 (TMEM214) mediates endoplasmic reticulum stress-induced caspase 4 enzyme activation and apoptosis. Li C, et al. J Biol Chem, 2013 Jun 14. PMID 23661706, Free PMC Article
    2. MTR120/KIAA1383, a novel microtubule-associated protein, promotes microtubule stability and ensures cytokinesis. Fong KW, et al. J Cell Sci, 2013 Feb 1. PMID 23264731, Free PMC Article
    3. Protein microarrays for the identification of praja1 e3 ubiquitin ligase substrates. Loch CM, et al. Cell Biochem Biophys, 2011 Jun. PMID 21461837
    4. Probing nuclear pore complex architecture with proximity-dependent biotinylation. Kim DI, et al. Proc Natl Acad Sci U S A, 2014 Jun 17. PMID 24927568, Free PMC Article
    5. Proteomic analysis of the mitochondrial glucocorticoid receptor interacting proteins reveals pyruvate dehydrogenase and mitochondrial 60 kDa heat shock protein as potent binding partners. Karra AG, et al. J Proteomics, 2022 Apr 15. PMID 35124280

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM214 is essential for endoplasmic reticulum (ER) stress-induced apoptosis by acting as an anchor for recruitment of procaspase 4 to the ER and its subsequent activation.
      Title: Transmembrane Protein 214 (TMEM214) mediates endoplasmic reticulum stress-induced caspase 4 enzyme activation and apoptosis.
    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

    Clone Names

    • FLJ20254, FLJ39682

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 214

    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_001083590.2 → NP_001077059.1  transmembrane protein 214 isoform 2

      See identical proteins and their annotated locations for NP_001077059.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AA460659, AC013472, AK097308, CF994632
      Consensus CDS
      CCDS46242.1
      UniProtKB/TrEMBL
      B3LEU8
      Related
      ENSP00000384417.3, ENST00000404032.7
      Conserved Domains (1) summary
      pfam10151
      Location:172 → 640
      DUF2359; uncharacterized conserved protein (DUF2359)

    2. NM_017727.5 → NP_060197.4  transmembrane protein 214 isoform 1

      See identical proteins and their annotated locations for NP_060197.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL833725, CF994632
      Consensus CDS
      CCDS42664.1
      UniProtKB/Swiss-Prot
      A6NNF2, B3KUI9, B5MCD8, D6W547, Q53SW1, Q69YH4, Q6NUQ4, Q8NC45, Q8WZ37, Q9NXH2
      UniProtKB/TrEMBL
      B3LEU8
      Related
      ENSP00000238788.9, ENST00000238788.14
      Conserved Domains (1) summary
      pfam10151
      Location:217 → 685
      DUF2359; uncharacterized conserved protein (DUF2359)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27032965..27041694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264381.4 → XP_005264438.1  transmembrane protein 214 isoform X1

      UniProtKB/TrEMBL
      B3LEU8
      Conserved Domains (1) summary
      pfam10151
      Location:217 → 749
      DUF2359; uncharacterized conserved protein (DUF2359)

    2. XM_005264382.4 → XP_005264439.1  transmembrane protein 214 isoform X2

      UniProtKB/TrEMBL
      B3LEU8
      Conserved Domains (1) summary
      pfam10151
      Location:217 → 711
      DUF2359; uncharacterized conserved protein (DUF2359)

    3. XM_047444826.1 → XP_047300782.1  transmembrane protein 214 isoform X3

    4. XM_047444827.1 → XP_047300783.1  transmembrane protein 214 isoform X4

      UniProtKB/TrEMBL
      H7C0H8
      Related
      ENSP00000395061.2, ENST00000435172.6

    5. XM_005264383.3 → XP_005264440.1  transmembrane protein 214 isoform X5

      UniProtKB/TrEMBL
      H7C008
      Related
      ENSP00000392442.1, ENST00000444135.5
      Conserved Domains (1) summary
      pfam10151
      Location:47 → 348
      DUF2359; uncharacterized conserved protein (DUF2359)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27074650..27083376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342659.1 → XP_054198634.1  transmembrane protein 214 isoform X1

    2. XM_054342660.1 → XP_054198635.1  transmembrane protein 214 isoform X2

    3. XM_054342661.1 → XP_054198636.1  transmembrane protein 214 isoform X3

    4. XM_054342662.1 → XP_054198637.1  transmembrane protein 214 isoform X4

      UniProtKB/TrEMBL
      H7C0H8

    5. XM_054342663.1 → XP_054198638.1  transmembrane protein 214 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUQ4.2 GenPept UniProtKB/Swiss-Prot:Q6NUQ4

    Gene LinkOut

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

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