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MIGA2 mitoguardin 2 [ Homo sapiens (human) ]

Gene ID: 84895, updated on 3-Apr-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. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
9q34.11
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129036626..129072082)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141240095..141275546)
105.20220307 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: 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

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. Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis. Zhang Y, et al. Mol Cell, 2016 Jan 7. PMID 26711011
  3. 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
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
  5. A High-Density Human Mitochondrial Proximity Interaction Network. Antonicka H, et al. Cell Metab, 2020 Sep 1. PMID 32877691

See all (16) 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)

Genotypes

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 
Component Evidence Code Pubs
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

  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

  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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