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TMEM243 transmembrane protein 243 [ Homo sapiens (human) ]

Gene ID: 79161, updated on 1-Jun-2020

Summary

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Official Symbol
TMEM243provided by HGNC
Official Full Name
transmembrane protein 243provided by HGNC
Primary source
HGNC:HGNC:21707
See related
Ensembl:ENSG00000135185 MIM:616993
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
Also known as
MMTRAG; C7orf23; MM-TRAG
Expression
Ubiquitous expression in lymph node (RPKM 19.8), thyroid (RPKM 18.7) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See TMEM243 in Genome Data Viewer
Location:
7q21.12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (87196160..87220587, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (86825477..86849889, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene endosome-lysosome associated apoptosis and autophagy regulator family member 2 Neighboring gene uncharacterized LOC112268008 Neighboring gene uncharacterized LOC101927420 Neighboring gene uncharacterized LOC105375384 Neighboring gene cyclin D binding myb like transcription factor 1 Neighboring gene TP53 target 1 Neighboring gene carnitine O-octanoyltransferase Neighboring gene ATP binding cassette subfamily B member 4

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. Multiple pathways are involved in drug resistance to doxorubicin in an osteosarcoma cell line. Rajkumar T, et al. Anticancer Drugs, 2008 Mar. PMID 18510171
  2. MM-TRAG (MGC4175), a novel intracellular mitochondrial protein, is associated with the taxol- and doxorubicin-resistant phenotype in human cancer cell lines. Duan Z, et al. Gene, 2004 Sep 29. PMID 15556294
  3. Regional activation of chromosomal arm 7q with and without gene amplification in taxane-selected human ovarian cancer cell lines. Wang YC, et al. Genes Chromosomes Cancer, 2006 Apr. PMID 16382445
  4. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Liu Y, et al. Mol Psychiatry, 2011 Jan. PMID 20351715, Free PMC Article
  5. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article

See all (11) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
  2. Data showed MGC4175 fused to the carboxy terminus of enhanced green fluorescent protein (EGFP) was localized to the mitochondria, and its overexpression was not caused by genomic amplification or gene arrangement.
    Title: MM-TRAG (MGC4175), a novel intracellular mitochondrial protein, is associated with the taxol- and doxorubicin-resistant phenotype in human cancer cell lines.
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

  • MGC4175

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 243
Names
MDR1 and mitochondrial taxol resistance associated
MDR1- and mitochondrial taxol resistance-associated protein
transmembrane protein 243, mitochondrial
transmembrane protein C7orf23

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_001329472.1 → NP_001316401.1  transmembrane protein 243

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AL711214, BC002837, CB993361
    Consensus CDS
    CCDS5602.1
    UniProtKB/Swiss-Prot
    Q9BU79
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 118
    DUF2678; Protein of unknown function (DUF2678)

  2. NM_001329473.1 → NP_001316402.1  transmembrane protein 243

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    BC002837, BP236768, CB993361
    Consensus CDS
    CCDS5602.1
    UniProtKB/Swiss-Prot
    Q9BU79
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 118
    DUF2678; Protein of unknown function (DUF2678)

  3. NM_001329474.1 → NP_001316403.1  transmembrane protein 243

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    BC002837, CB993361
    Consensus CDS
    CCDS5602.1
    UniProtKB/Swiss-Prot
    Q9BU79
    Related
    ENSP00000398083.1, ENST00000433078.5
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 118
    DUF2678; Protein of unknown function (DUF2678)

  4. NM_001329475.1 → NP_001316404.1  transmembrane protein 243

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AC005076, BC002837
    Consensus CDS
    CCDS5602.1
    UniProtKB/Swiss-Prot
    Q9BU79
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 118
    DUF2678; Protein of unknown function (DUF2678)

  5. NM_024315.4 → NP_077291.1  transmembrane protein 243

    See identical proteins and their annotated locations for NP_077291.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-5 all encode the same protein.
    Source sequence(s)
    AC005076, BC002837
    Consensus CDS
    CCDS5602.1
    UniProtKB/Swiss-Prot
    Q9BU79
    Related
    ENSP00000257637.3, ENST00000257637.8
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 118
    DUF2678; Protein of unknown function (DUF2678)

RNA

  1. NR_138030.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' end and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    BC002837, CB993361, DB241717

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    87196160..87220587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250586.3 → XP_005250643.1  transmembrane protein 243 isoform X1

    See identical proteins and their annotated locations for XP_005250643.1

    UniProtKB/TrEMBL
    C9JY04
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 79
    DUF2678; Protein of unknown function (DUF2678)

  2. XM_005250588.3 → XP_005250645.1  transmembrane protein 243 isoform X1

    See identical proteins and their annotated locations for XP_005250645.1

    UniProtKB/TrEMBL
    C9JY04
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 79
    DUF2678; Protein of unknown function (DUF2678)

  3. XM_005250587.4 → XP_005250644.1  transmembrane protein 243 isoform X1

    See identical proteins and their annotated locations for XP_005250644.1

    UniProtKB/TrEMBL
    C9JY04
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 79
    DUF2678; Protein of unknown function (DUF2678)

  4. XM_017012616.2 → XP_016868105.1  transmembrane protein 243 isoform X1

    UniProtKB/TrEMBL
    C9JY04
    Related
    ENSP00000407976.1, ENST00000423734.1
    Conserved Domains (1) summary
    pfam10856
    Location:1 → 79
    DUF2678; Protein of unknown function (DUF2678)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BU79.1 GenPept UniProtKB/Swiss-Prot:Q9BU79

Gene LinkOut

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