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TMEM214 transmembrane protein 214 [ Homo sapiens (human) ]

Gene ID: 54867, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 25.1), thyroid (RPKM 23.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2p23.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27032965..27041694)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27074650..27083376)
105.20220307 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
  • 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 (51) 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_2023_10

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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