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    MTFR2 mitochondrial fission regulator 2 [ Homo sapiens (human) ]

    Gene ID: 113115, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MTFR2provided by HGNC
    Official Full Name
    mitochondrial fission regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:21115
    See related
    Ensembl:ENSG00000146410 AllianceGenome:HGNC:21115
    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
    DUFD1; FAM54A
    Summary
    Predicted to be involved in aerobic respiration and mitochondrial fission. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 2.0), bone marrow (RPKM 1.8) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTFR2 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (136231034..136250311, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (137419143..137438419, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (136552172..136571449, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 7B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:136358942-136359442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:136359443-136359943 Neighboring gene PDE7B antisense RNA 1 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:136388797-136389341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25110 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:136609778-136610374 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:136610456-136611655 Neighboring gene uncharacterized LOC124901408 Neighboring gene BCL2 associated transcription factor 1

    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. Upregulated expression of MTFR2 as a novel biomarker predicts poor prognosis in hepatocellular carcinoma by bioinformatics analysis. Li D, et al. Future Oncol, 2021 Aug. PMID 34156259
    2. Evaluation of clinical value and potential mechanism of MTFR2 in lung adenocarcinoma via bioinformatics. Chen C, et al. BMC Cancer, 2021 May 26. PMID 34039308, Free PMC Article
    3. Mitochondrial fission regulator 2 (MTFR2) promotes growth, migration, invasion and tumour progression in breast cancer cells. Lu G, et al. Aging (Albany NY), 2019 Nov 18. PMID 31740625, Free PMC Article
    4. Transcription factor HOXC10 activates the expression of MTFR2 to regulate the proliferation, invasion and migration of colorectal cancer cells. Xie Y, et al. Mol Med Rep, 2021 Nov. PMID 34523692, Free PMC Article
    5. Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria. Steffen J, et al. Mol Biol Cell, 2017 Mar 1. PMID 28057766, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysregulation of MTFR2, ATP5IF1 and BAK1 in Sertoli cells relates to idiopathic non-obstructive azoospermia via inhibiting mitochondrial fission and inducing mitochondrial dysfunctiondagger.
      Title: Dysregulation of MTFR2, ATP5IF1 and BAK1 in Sertoli cells relates to idiopathic non-obstructive azoospermia via inhibiting mitochondrial fission and inducing mitochondrial dysfunction†.
    2. MTFR2-dependent mitochondrial fission promotes HCC progression.
      Title: MTFR2-dependent mitochondrial fission promotes HCC progression.
    3. Transcription factor HOXC10 activates the expression of MTFR2 to regulate the proliferation, invasion and migration of colorectal cancer cells.
      Title: Transcription factor HOXC10 activates the expression of MTFR2 to regulate the proliferation, invasion and migration of colorectal cancer cells.
    4. Upregulated expression of MTFR2 as a novel biomarker predicts poor prognosis in hepatocellular carcinoma by bioinformatics analysis.
      Title: Upregulated expression of MTFR2 as a novel biomarker predicts poor prognosis in hepatocellular carcinoma by bioinformatics analysis.
    5. Evaluation of clinical value and potential mechanism of MTFR2 in lung adenocarcinoma via bioinformatics.
      Title: Evaluation of clinical value and potential mechanism of MTFR2 in lung adenocarcinoma via bioinformatics.
    6. Mitochondrial fission regulator 2 (MTFR2) promotes growth, migration, invasion and tumour progression in breast cancer cells.
      Title: Mitochondrial fission regulator 2 (MTFR2) promotes growth, migration, invasion and tumour progression in breast cancer cells.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aerobic respiration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial fission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial fission regulator 2
    Names
    DUF729 domain-containing protein 1
    family with sequence similarity 54, member A

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001099286.3 → NP_001092756.1  mitochondrial fission regulator 2 isoform a

      See identical proteins and their annotated locations for NP_001092756.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      BC063688, DB016393
      Consensus CDS
      CCDS5176.1
      UniProtKB/Swiss-Prot
      A8K8D8, E1P585, Q5JWR7, Q6P444, Q6ZUE8, Q7L3U6, Q9BZ39
      Related
      ENSP00000395232.1, ENST00000420702.6
      Conserved Domains (1) summary
      pfam05308
      Location:25 → 286
      Mito_fiss_reg; Mitochondrial fission regulator

    2. NM_001318738.2 → NP_001305667.1  mitochondrial fission regulator 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and contains an alternate exon in the 5' region compared to variant 1. It initiates translation at a downstream start codon. The encoded isoform (b) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AK125758, DA799177
      UniProtKB/Swiss-Prot
      Q6P444
      Conserved Domains (1) summary
      pfam05308
      Location:1 → 243
      Mito_fiss_reg; Mitochondrial fission regulator

    3. NM_138419.5 → NP_612428.2  mitochondrial fission regulator 2 isoform a

      See identical proteins and their annotated locations for NP_612428.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      BC011716, BG831782, DA799177
      Consensus CDS
      CCDS5176.1
      UniProtKB/Swiss-Prot
      A8K8D8, E1P585, Q5JWR7, Q6P444, Q6ZUE8, Q7L3U6, Q9BZ39
      Related
      ENSP00000407010.2, ENST00000451457.6
      Conserved Domains (1) summary
      pfam05308
      Location:25 → 286
      Mito_fiss_reg; Mitochondrial fission regulator

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      136231034..136250311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535413.3 → XP_011533715.1  mitochondrial fission regulator 2 isoform X1

      See identical proteins and their annotated locations for XP_011533715.1

      UniProtKB/Swiss-Prot
      Q6P444
      Conserved Domains (1) summary
      pfam05308
      Location:1 → 243
      Mito_fiss_reg; Mitochondrial fission regulator

    2. XM_011535412.3 → XP_011533714.1  mitochondrial fission regulator 2 isoform X1

      See identical proteins and their annotated locations for XP_011533714.1

      UniProtKB/Swiss-Prot
      Q6P444
      Conserved Domains (1) summary
      pfam05308
      Location:1 → 243
      Mito_fiss_reg; Mitochondrial fission regulator

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      137419143..137438419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354143.1 → XP_054210118.1  mitochondrial fission regulator 2 isoform X1

    2. XM_054354144.1 → XP_054210119.1  mitochondrial fission regulator 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P444.2 GenPept UniProtKB/Swiss-Prot:Q6P444

    Gene LinkOut

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

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