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

    Gene ID: 113115, updated on 10-Dec-2024

    Summary

    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. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 2.0), bone marrow (RPKM 1.8) and 12 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MTFR2 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (136231034..136250311, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (137419143..137438419, complement)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in aerobic respiration  
    involved_in aerobic respiration  
    involved_in mitochondrial fission  
    involved_in mitochondrial fission  
    involved_in mitochondrion organization  
    Component Evidence Code Pubs
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion  

    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)

    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_001099286.3NP_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
      A8K8D8, E1P585, Q5JWR7, Q6P444, Q6ZUE8, Q7L3U6, Q9BZ39
      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
      A8K8D8, E1P585, Q5JWR7, Q6P444, Q6ZUE8, Q7L3U6, Q9BZ39
      Related
      ENSP00000407010.2, ENST00000451457.6
      Conserved Domains (1) summary
      pfam05308
      Location:25286
      Mito_fiss_reg; Mitochondrial fission regulator

    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_000006.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011535413.3XP_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_011535412.3XP_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

    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_054354143.1XP_054210118.1  mitochondrial fission regulator 2 isoform X1

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

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