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    MIGA2 mitoguardin 2 [ Homo sapiens (human) ]

    Gene ID: 84895, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MIGA2provided by HGNC
    Official Full Name
    mitoguardin 2provided by HGNC
    Primary source
    HGNC:HGNC:23621
    See related
    Ensembl:ENSG00000148343 MIM:616774; AllianceGenome:HGNC:23621
    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
    FAM73B; C9orf54
    Summary
    Enables protein heterodimerization activity and protein homodimerization activity. Involved in mitochondrial fusion. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 12.6), small intestine (RPKM 10.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MIGA2 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129036626..129072082)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141240095..141275546)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131798905..131834361)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 188 Neighboring gene uncharacterized LOC101929314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131773679-131774589 Neighboring gene SH3 domain containing GRB2 like, endophilin B2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131784821-131785628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131785629-131786436 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:131788471-131789034 and GRCh37_chr9:131789035-131789598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131789599-131790162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131790847-131791586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131791587-131792326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29101 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:131821359-131822558 Neighboring gene uncharacterized LOC124902334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29102 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131833123-131834072 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:131834073-131835022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20359 Neighboring gene dolichyldiphosphatase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131864095-131864840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20360 Neighboring gene carnitine O-acetyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Mitoguardin-1 and -2 promote maturation and the developmental potential of mouse oocytes by maintaining mitochondrial dynamics and functions. Liu XM, et al. Oncotarget, 2016 Jan 12. PMID 26716412, Free PMC Article
    2. TRABD modulates mitochondrial homeostasis and tissue integrity. Zhou C, et al. Cell Rep, 2024 Jun 25. PMID 38843396
    3. FFAT motif phosphorylation controls formation and lipid transfer function of inter-organelle contacts. Di Mattia T, et al. EMBO J, 2020 Dec 1. PMID 33124732, Free PMC Article
    4. Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis. Zhang Y, et al. Mol Cell, 2016 Jan 7. PMID 26711011
    5. Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy. Kojima W, et al. Autophagy, 2021 Aug. PMID 33499712, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Propose that MIGA1/2 proteins promote mitochondrial fusion by regulating mitochondrial phospholipid metabolism via MitoPLD.
      Title: Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00199, FLJ14596

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial fusion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial fusion IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitoguardin 2
    Names
    family with sequence similarity 73, member B
    protein FAM73B

    NCBI Reference Sequences (RefSeq)

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    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_001329990.2 → NP_001316919.1  mitoguardin 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL592211
      Consensus CDS
      CCDS6917.1
      UniProtKB/Swiss-Prot
      Q7L4E1, Q8NBM3, Q8TEJ6, Q969E6
      Related
      ENSP00000506871.1, ENST00000684074.1

    2. NM_032809.4 → NP_116198.3  mitoguardin 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK303036, BC009114, BM674865
      UniProtKB/TrEMBL
      B4DZP8
      Conserved Domains (1) summary
      pfam10265
      Location:95 → 632
      DUF2217; Uncharacterized conserved protein (DUF2217)

    RNA

    1. NR_138421.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK074127, AK075421, AL592211, BM674865, DC306779
      Related
      ENST00000439290.5

    2. NR_138422.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AK075421, BM674865, DC306779
      Related
      ENST00000445183.5

    3. NR_138423.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL592211

    4. NR_138424.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL592211

    5. NR_138425.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL592211

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      129036626..129072082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423975.1 → XP_047279931.1  mitoguardin 2 isoform X1

      UniProtKB/TrEMBL
      B4DZP8

    2. XM_047423976.1 → XP_047279932.1  mitoguardin 2 isoform X2

    3. XM_011519118.2 → XP_011517420.1  mitoguardin 2 isoform X3

      Conserved Domains (1) summary
      pfam10265
      Location:1 → 428
      DUF2217; Uncharacterized conserved protein (DUF2217)

    4. XM_047423977.1 → XP_047279933.1  mitoguardin 2 isoform X4

    RNA

    1. XR_007061362.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      141240095..141275546
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364026.1 → XP_054220001.1  mitoguardin 2 isoform X1

      UniProtKB/TrEMBL
      B4DZP8

    2. XM_054364027.1 → XP_054220002.1  mitoguardin 2 isoform X2

    3. XM_054364028.1 → XP_054220003.1  mitoguardin 2 isoform X3

    4. XM_054364029.1 → XP_054220004.1  mitoguardin 2 isoform X4

    RNA

    1. XR_008488086.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L4E1.1 GenPept UniProtKB/Swiss-Prot:Q7L4E1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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