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

Gene ID: 113115, updated on 11-Oct-2020

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
109.20200815 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 Updated Annotation Release 109.20200815

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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