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

    Gene ID: 113115, updated on 17-Jun-2019

    Summary

    Official Symbol
    MTFR2provided by HGNC
    Official Full Name
    mitochondrial fission regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:21115
    See related
    Ensembl:ENSG00000146410
    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
    Expression
    Biased expression in testis (RPKM 2.0), bone marrow (RPKM 1.8) and 12 other tissues See more
    Orthologs

    Genomic context

    See MTFR2 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (136231030..136253659, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (136552168..136571449, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 7B Neighboring gene uncharacterized LOC644135 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 2 Neighboring gene BCL2 associated transcription factor 1 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 8 Neighboring gene microtubule associated protein 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001099286.3NP_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
      Q6P444
      Related
      ENSP00000395232.1, ENST00000420702.6
      Conserved Domains (1) summary
      pfam05308
      Location:25286
      Mito_fiss_reg; Mitochondrial fission regulator
    2. NM_001318738.2NP_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:1243
      Mito_fiss_reg; Mitochondrial fission regulator
    3. NM_138419.5NP_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
      Q6P444
      Related
      ENSP00000407010.2, ENST00000451457.6
      Conserved Domains (1) summary
      pfam05308
      Location:25286
      Mito_fiss_reg; Mitochondrial fission regulator

    RefSeqs of Annotated Genomes: Homo sapiens 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_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      136231030..136253659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535413.2XP_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:1243
      Mito_fiss_reg; Mitochondrial fission regulator
    2. XM_011535410.2XP_011533712.1  mitochondrial fission regulator 2 isoform X1

      See identical proteins and their annotated locations for XP_011533712.1

      UniProtKB/Swiss-Prot
      Q6P444
      Conserved Domains (1) summary
      pfam05308
      Location:1243
      Mito_fiss_reg; Mitochondrial fission regulator
    3. XM_011535412.2XP_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:1243
      Mito_fiss_reg; Mitochondrial fission regulator
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