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    TMEM243 transmembrane protein 243 [ Homo sapiens (human) ]

    Gene ID: 79161, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:21707
    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
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 19.8), thyroid (RPKM 18.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM243 in Genome Data Viewer
    Location:
    7q21.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (87196160..87220587, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (88446097..88470238, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (86825476..86849903, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901689 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:86758408-86759168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26226 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86780839-86781402 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86781403-86781964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18343 Neighboring gene DMTF1 antisense RNA 1 Neighboring gene cyclin D binding myb like transcription factor 1 Neighboring gene uncharacterized LOC105375384 Neighboring gene NANOG hESC enhancer GRCh37_chr7:86830979-86831516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18345 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:86959096-86960295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18346 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 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 (14) citations in PubMed

    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)

    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in 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 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL711214, BC002837, CB993361
      Consensus CDS
      CCDS5602.1
      UniProtKB/Swiss-Prot
      A4D1C6, B2R9I4, D6W5P1, Q9BU79
      Conserved Domains (1) summary
      pfam10856
      Location:1 → 118
      DUF2678; Protein of unknown function (DUF2678)

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

      Status: VALIDATED

      Source sequence(s)
      AC005076, BC002837, BP236768, CB993361
      Consensus CDS
      CCDS5602.1
      UniProtKB/Swiss-Prot
      A4D1C6, B2R9I4, D6W5P1, Q9BU79
      Conserved Domains (1) summary
      pfam10856
      Location:1 → 118
      DUF2678; Protein of unknown function (DUF2678)

    3. NM_001329474.2 → NP_001316403.1  transmembrane protein 243 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005076, BC002837, CB993361
      Consensus CDS
      CCDS5602.1
      UniProtKB/Swiss-Prot
      A4D1C6, B2R9I4, D6W5P1, Q9BU79
      Related
      ENSP00000398083.1, ENST00000433078.5
      Conserved Domains (1) summary
      pfam10856
      Location:1 → 118
      DUF2678; Protein of unknown function (DUF2678)

    4. NM_001329475.2 → NP_001316404.1  transmembrane protein 243 isoform b

      Status: VALIDATED

      Source sequence(s)
      AC005076, BC002837
      Consensus CDS
      CCDS5602.1
      UniProtKB/Swiss-Prot
      A4D1C6, B2R9I4, D6W5P1, Q9BU79
      Conserved Domains (1) summary
      pfam10856
      Location:1 → 118
      DUF2678; Protein of unknown function (DUF2678)

    5. NM_001410901.1 → NP_001397830.1  transmembrane protein 243 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes the longer isoform (a).
      Source sequence(s)
      AC005076
      Consensus CDS
      CCDS94136.1
      UniProtKB/TrEMBL
      C9JY04
      Related
      ENSP00000407976.1, ENST00000423734.1

    6. NM_024315.4 → NP_077291.1  transmembrane protein 243 isoform b

      See identical proteins and their annotated locations for NP_077291.1

      Status: VALIDATED

      Source sequence(s)
      AC005076, BC002837
      Consensus CDS
      CCDS5602.1
      UniProtKB/Swiss-Prot
      A4D1C6, B2R9I4, D6W5P1, Q9BU79
      Related
      ENSP00000257637.3, ENST00000257637.8
      Conserved Domains (1) summary
      pfam10856
      Location:1 → 118
      DUF2678; Protein of unknown function (DUF2678)

    RNA

    1. NR_138030.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005076, BC002837, CB993361, DB241717

    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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005250586.4 → 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_005250587.5 → 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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      88446097..88470238 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BU79.1 GenPept UniProtKB/Swiss-Prot:Q9BU79

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