Aliases for MIGA2 Gene

Aliases for MIGA2 Gene

  • Mitoguardin 2 2 3 4 5
  • Family With Sequence Similarity 73, Member B 2 3
  • Protein FAM73B 3 4
  • C9orf54 3 4
  • FAM73B 3 4
  • Family With Sequence Similarity 73 Member B 2
  • Chromosome 9 Open Reading Frame 54 2
  • FLJ14596 2
  • FLJ00199 2
  • MIGA2 5

External Ids for MIGA2 Gene

Previous HGNC Symbols for MIGA2 Gene

  • C9orf54
  • FAM73B

Summaries for MIGA2 Gene

GeneCards Summary for MIGA2 Gene

MIGA2 (Mitoguardin 2) is a Protein Coding gene. Diseases associated with MIGA2 include Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked. An important paralog of this gene is MIGA1.

UniProtKB/Swiss-Prot Summary for MIGA2 Gene

  • Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.

Gene Wiki entry for MIGA2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIGA2 Gene

Genomics for MIGA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MIGA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIGA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MIGA2

Genomic Locations for MIGA2 Gene

Latest Assembly
chr9:129,036,605-129,072,082
(GRCh38/hg38)
Size:
35,478 bases
Orientation:
Plus strand

Previous Assembly
chr9:131,798,905-131,834,361
(GRCh37/hg19 by Entrez Gene)
Size:
35,457 bases
Orientation:
Plus strand

chr9:131,798,900-131,834,361
(GRCh37/hg19 by Ensembl)
Size:
35,462 bases
Orientation:
Plus strand

Genomic View for MIGA2 Gene

Genes around MIGA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIGA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIGA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIGA2 Gene

Proteins for MIGA2 Gene

  • Protein details for MIGA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L4E1-MIGA2_HUMAN
    Recommended name:
    Mitoguardin 2
    Protein Accession:
    Q7L4E1
    Secondary Accessions:
    • Q8NBM3
    • Q8TEJ6
    • Q969E6

    Protein attributes for MIGA2 Gene

    Size:
    593 amino acids
    Molecular mass:
    65531 Da
    Quaternary structure:
    • Homodimer and heterodimer; forms heterodimers with MIGA1 (PubMed:26711011). Interacts with PLD6/MitoPLD (PubMed:26711011).
    SequenceCaution:
    • Sequence=BAB55159.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB84953.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW87861.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MIGA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIGA2 Gene

Post-translational modifications for MIGA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MIGA2 Gene

No data available for DME Specific Peptides for MIGA2 Gene

Domains & Families for MIGA2 Gene

Gene Families for MIGA2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MIGA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MIGA2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM73B (FA73B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L4E1

UniProtKB/Swiss-Prot:

MIGA2_HUMAN :
  • Belongs to the mitoguardin family.
Family:
  • Belongs to the mitoguardin family.
genes like me logo Genes that share domains with MIGA2: view

Function for MIGA2 Gene

Molecular function for MIGA2 Gene

UniProtKB/Swiss-Prot Function:
Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.

Phenotypes From GWAS Catalog for MIGA2 Gene

Gene Ontology (GO) - Molecular Function for MIGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26711011
GO:0042803 protein homodimerization activity IDA 26711011
GO:0046982 protein heterodimerization activity IDA 26711011
genes like me logo Genes that share ontologies with MIGA2: view
genes like me logo Genes that share phenotypes with MIGA2: view

Animal Models for MIGA2 Gene

MGI Knock Outs for MIGA2:
  • Miga2 Miga2<tm1a(KOMP)Wtsi>

miRNA for MIGA2 Gene

miRTarBase miRNAs that target MIGA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIGA2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MIGA2 Gene

Localization for MIGA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIGA2 Gene

Mitochondrion outer membrane. Multi-pass membrane protein.

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 MIGA2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
endoplasmic reticulum 2
cytosol 2
extracellular 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MIGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005887 integral component of plasma membrane IDA 26711011
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MIGA2: view

Pathways & Interactions for MIGA2 Gene

PathCards logo

SuperPathways for MIGA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008053 mitochondrial fusion IEA,IDA 26711011
GO:0060348 bone development IEA --
genes like me logo Genes that share ontologies with MIGA2: view

No data available for Pathways by source and SIGNOR curated interactions for MIGA2 Gene

Drugs & Compounds for MIGA2 Gene

No Compound Related Data Available

Transcripts for MIGA2 Gene

mRNA/cDNA for MIGA2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIGA2

Alternative Splicing Database (ASD) splice patterns (SP) for MIGA2 Gene

No ASD Table

Relevant External Links for MIGA2 Gene

GeneLoc Exon Structure for
MIGA2

Expression for MIGA2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MIGA2

Evidence on tissue expression from TISSUES for MIGA2 Gene

  • Nervous system(4.9)
  • Spleen(4.2)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIGA2 Gene

Orthologs for MIGA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIGA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM73B 30 31
  • 99.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM73B 30 31
  • 90.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM73B 30 31
  • 89.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam73b 30 31
  • 86.68 (n)
OneToOne
Miga2 17
Rat
(Rattus norvegicus)
Mammalia Fam73b 30
  • 86.04 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM73B 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FAM73B 30 31
  • 74.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM73B 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam73b 30
  • 66.37 (n)
Str.11456 30
Zebrafish
(Danio rerio)
Actinopterygii fam73b 30 31
  • 62.9 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011689 30
  • 52.97 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12125 30 31
  • 49.81 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea K01D12.6 31
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Species where no ortholog for MIGA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for MIGA2 Gene

ENSEMBL:
Gene Tree for MIGA2 (if available)
TreeFam:
Gene Tree for MIGA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MIGA2: view image

Paralogs for MIGA2 Gene

Paralogs for MIGA2 Gene

genes like me logo Genes that share paralogs with MIGA2: view

Variants for MIGA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MIGA2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs10988183 Benign: not provided 129,049,921(+) C/T
NM_032809.3(MIGA2):c.825C>T (p.Asp275=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs17508321 Benign: not provided 129,049,897(+) C/T
NM_032809.3(MIGA2):c.801C>T (p.Ser267=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs11544968 - p.Val100Ala
rs17452596 - p.Gly212Ser
rs6478859 - p.Glu78Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MIGA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MIGA2 Gene

Variant ID Type Subtype PubMed ID
esv2665493 CNV deletion 23128226
esv3621823 CNV loss 21293372
nsv509323 CNV insertion 20534489
nsv818725 CNV gain 17921354
nsv831729 CNV loss 17160897

Variation tolerance for MIGA2 Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MIGA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIGA2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIGA2 Gene

Disorders for MIGA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIGA2 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search MIGA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MIGA2

genes like me logo Genes that share disorders with MIGA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIGA2 Gene

Publications for MIGA2 Gene

  1. Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis. (PMID: 26711011) Zhang Y … Tong C (Molecular cell 2016) 3 4
  2. Mitoguardin-1 and -2 promote maturation and the developmental potential of mouse oocytes by maintaining mitochondrial dynamics and functions. (PMID: 26716412) Liu XM … Fan HY (Oncotarget 2016) 2 3
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A High-Density Human Mitochondrial Proximity Interaction Network. (PMID: 32877691) Antonicka H … Shoubridge EA (Cell metabolism 2020) 3

Products for MIGA2 Gene

Sources for MIGA2 Gene