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Aliases for MTFR2 Gene

Aliases for MTFR2 Gene

  • Mitochondrial Fission Regulator 2 2 3 5
  • Family With Sequence Similarity 54, Member A 2 3
  • DUF729 Domain-Containing Protein 1 3 4
  • FAM54A 3 4
  • DUFD1 3 4
  • DUF729 Domain Containing 1 2

External Ids for MTFR2 Gene

Previous HGNC Symbols for MTFR2 Gene

  • DUFD1
  • FAM54A

Previous GeneCards Identifiers for MTFR2 Gene

  • GC06M136552

Summaries for MTFR2 Gene

GeneCards Summary for MTFR2 Gene

MTFR2 (Mitochondrial Fission Regulator 2) is a Protein Coding gene. An important paralog of this gene is MTFR1.

UniProtKB/Swiss-Prot for MTFR2 Gene

  • May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity).

Additional gene information for MTFR2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTFR2 Gene

Genomics for MTFR2 Gene

GeneHancer (GH) Regulatory Elements for MTFR2 Gene

Promoters and enhancers for MTFR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I136248 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +3.4 3445 2.5 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 MTFR2 BCLAF1 MAP7 LOC644135
GH06I136251 Enhancer 0.9 ENCODE 550.8 +2.0 1997 0.1 HDAC1 PKNOX1 ARNT FEZF1 TCF12 POLR2B E2F8 ZNF366 KLF7 PHF21A MTFR2 LOC644135
GH06I136782 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -534.2 -534212 12.1 HDGF FOXA2 PKNOX1 CLOCK SMAD1 SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B MAP3K5 BCLAF1 PEX7 MTFR2 IFNGR1 LOC101928429
GH06I135496 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 +755.8 755834 3 FEZF1 DMAP1 YY1 E2F8 SP3 MEF2D GLIS1 NBN KDM1A WT1 AHI1 LINC00271 MTFR2 BCLAF1
GH06I135909 Enhancer 0.9 Ensembl ENCODE 11.6 +343.7 343698 0.2 SCRT1 ELF3 CTCF ZNF654 TRIM22 REST ZEB2 ZNF644 RAD21 SCRT2 LOC644135 MTFR2 PDE7B LOC101928373 GC06P135870
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTFR2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MTFR2 Gene

Genomic Locations for MTFR2 Gene
chr6:136,231,024-136,253,615
(GRCh38/hg38)
Size:
22,592 bases
Orientation:
Minus strand
chr6:136,552,162-136,571,473
(GRCh37/hg19)

Genomic View for MTFR2 Gene

Genes around MTFR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTFR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTFR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTFR2 Gene

Proteins for MTFR2 Gene

  • Protein details for MTFR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P444-MTFR2_HUMAN
    Recommended name:
    Mitochondrial fission regulator 2
    Protein Accession:
    Q6P444
    Secondary Accessions:
    • A8K8D8
    • E1P585
    • Q5JWR7
    • Q6ZUE8
    • Q7L3U6
    • Q9BZ39

    Protein attributes for MTFR2 Gene

    Size:
    385 amino acids
    Molecular mass:
    43384 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC86277.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=CAI17908.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI95284.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MTFR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTFR2 Gene

Post-translational modifications for MTFR2 Gene

  • Ubiquitination at isoforms=125, isoforms=141, and Lys166

No data available for DME Specific Peptides for MTFR2 Gene

Domains & Families for MTFR2 Gene

Gene Families for MTFR2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MTFR2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q6P444

UniProtKB/Swiss-Prot:

MTFR2_HUMAN :
  • Belongs to the MTFR1 family.
Family:
  • Belongs to the MTFR1 family.
genes like me logo Genes that share domains with MTFR2: view

Function for MTFR2 Gene

Molecular function for MTFR2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity).

Phenotypes From GWAS Catalog for MTFR2 Gene

Gene Ontology (GO) - Molecular Function for MTFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MTFR2: view
genes like me logo Genes that share phenotypes with MTFR2: view

Animal Model Products

CRISPR Products

miRNA for MTFR2 Gene

miRTarBase miRNAs that target MTFR2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTFR2 Gene

Localization for MTFR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTFR2 Gene

Mitochondrion. Note=Associated with membranes. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTFR2 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS,IBA --
genes like me logo Genes that share ontologies with MTFR2: view

Pathways & Interactions for MTFR2 Gene

SuperPathways for MTFR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTFR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission ISS --
GO:0007005 mitochondrion organization ISS,IEA --
GO:0009060 aerobic respiration ISS,IEA --
genes like me logo Genes that share ontologies with MTFR2: view

No data available for Pathways by source and SIGNOR curated interactions for MTFR2 Gene

Drugs & Compounds for MTFR2 Gene

No Compound Related Data Available

Transcripts for MTFR2 Gene

Unigene Clusters for MTFR2 Gene

Mitochondrial fission regulator 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTFR2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - - -
SP2: - -
SP3:
SP4: -
SP5: -

Relevant External Links for MTFR2 Gene

GeneLoc Exon Structure for
MTFR2
ECgene alternative splicing isoforms for
MTFR2

Expression for MTFR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTFR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTFR2 Gene

This gene is overexpressed in Testis (x7.2).

Protein differential expression in normal tissues from HIPED for MTFR2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTFR2 Gene



Protein tissue co-expression partners for MTFR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTFR2 Gene:

MTFR2

SOURCE GeneReport for Unigene cluster for MTFR2 Gene:

Hs.121536

Evidence on tissue expression from TISSUES for MTFR2 Gene

  • Kidney(4.2)
genes like me logo Genes that share expression patterns with MTFR2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTFR2 Gene

Orthologs for MTFR2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MTFR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM54A 33 34
  • 98.53 (n)
cow
(Bos Taurus)
Mammalia MTFR2 33 34
  • 81.12 (n)
dog
(Canis familiaris)
Mammalia FAM54A 33
  • 80.18 (n)
MTFR2 34
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtfr2 33 16 34
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911069 33
  • 75.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTFR2 34
  • 49 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTFR2 34
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM54A 33
  • 58.2 (n)
MTFR2 34
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 57 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mtfr2 33
  • 52.73 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:153910 33 34
  • 50 (n)
Species where no ortholog for MTFR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MTFR2 Gene

ENSEMBL:
Gene Tree for MTFR2 (if available)
TreeFam:
Gene Tree for MTFR2 (if available)

Paralogs for MTFR2 Gene

Paralogs for MTFR2 Gene

Pseudogenes.org Pseudogenes for MTFR2 Gene

genes like me logo Genes that share paralogs with MTFR2: view

Variants for MTFR2 Gene

Sequence variations from dbSNP and Humsavar for MTFR2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000303532 -- 136,236,006(-) C/T intron_variant
rs1000494300 -- 136,247,485(-) T/C 5_prime_UTR_variant, intron_variant
rs1000895421 -- 136,251,735(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000910058 -- 136,253,496(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000940638 -- 136,253,258(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MTFR2 Gene

Variant ID Type Subtype PubMed ID
esv3610912 CNV loss 21293372

Variation tolerance for MTFR2 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.85; 48.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTFR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTFR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTFR2 Gene

Disorders for MTFR2 Gene

Additional Disease Information for MTFR2

No disorders were found for MTFR2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTFR2 Gene

Publications for MTFR2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4 58

Products for MTFR2 Gene

Sources for MTFR2 Gene

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