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MIGA2 mitoguardin 2 [ Homo sapiens (human) ]

Gene ID: 84895, updated on 13-May-2022

Summary

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
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Genomic context

See MIGA2 in Genome Data Viewer
Location:
9q34.11
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129036626..129072082)
110 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 SH3 domain containing GRB2 like, endophilin B2 Neighboring gene U6 spliceosomal RNA Neighboring gene dolichyldiphosphatase 1 Neighboring gene carnitine O-acetyltransferase

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial fusion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001329990.2NP_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
    Related
    ENSP00000506871.1, ENST00000684074.1
  2. NM_032809.4NP_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/Swiss-Prot
    Q7L4E1
    UniProtKB/TrEMBL
    B4DZP8
    Conserved Domains (1) summary
    pfam10265
    Location:95632
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047423975.1XP_047279931.1  mitoguardin 2 isoform X1

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

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

    Conserved Domains (1) summary
    pfam10265
    Location:1428
    DUF2217; Uncharacterized conserved protein (DUF2217)
  4. XM_047423977.1XP_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)