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Aliases for FAM73B Gene

Aliases for FAM73B Gene

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

External Ids for FAM73B Gene

Previous HGNC Symbols for FAM73B Gene

  • C9orf54

Previous GeneCards Identifiers for FAM73B Gene

  • GC09P128879
  • GC09P130838
  • GC09P131798
  • GC09P101406

Summaries for FAM73B Gene

GeneCards Summary for FAM73B Gene

FAM73B (Family With Sequence Similarity 73 Member B) is a Protein Coding gene. An important paralog of this gene is FAM73A.

UniProtKB/Swiss-Prot for FAM73B 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 FAM73B Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM73B Gene

Genomics for FAM73B Gene

Regulatory Elements for FAM73B Gene

Enhancers for FAM73B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAM73B on UCSC Golden Path with GeneCards custom track

Promoters for FAM73B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM73B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM73B Gene

Chromosome:
9
Start:
129,036,605 bp from pter
End:
129,072,082 bp from pter
Size:
35,478 bases
Orientation:
Plus strand

Genomic View for FAM73B Gene

Genes around FAM73B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM73B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM73B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM73B Gene

Proteins for FAM73B Gene

  • Protein details for FAM73B Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for FAM73B Gene

    Size:
    593 amino acids
    Molecular mass:
    65531 Da
    Quaternary structure:
    • Homodimer and heterodimer; forms heterodimers with FAM73A/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 FAM73B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM73B Gene

Proteomics data for FAM73B Gene at MOPED

Post-translational modifications for FAM73B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM73B Gene

No data available for DME Specific Peptides for FAM73B Gene

Domains & Families for FAM73B Gene

Protein Domains for FAM73B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM73B Gene

GenScript: Design optimal peptide antigens:

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 FAM73B: view

No data available for Gene Families for FAM73B Gene

Function for FAM73B Gene

Molecular function for FAM73B 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.

Gene Ontology (GO) - Molecular Function for FAM73B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IDA 26711011
genes like me logo Genes that share ontologies with FAM73B: view
genes like me logo Genes that share phenotypes with FAM73B: view

Animal Models for FAM73B Gene

MGI Knock Outs for FAM73B:

Animal Model Products

CRISPR Products

miRNA for FAM73B Gene

miRTarBase miRNAs that target FAM73B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM73B Gene

Localization for FAM73B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM73B Gene

Mitochondrion outer membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM73B Gene COMPARTMENTS Subcellular localization image for FAM73B gene
Compartment Confidence
mitochondrion 3
cytosol 2
endoplasmic reticulum 2
plasma membrane 2
extracellular 1
golgi apparatus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for FAM73B Gene

Pathways & Interactions for FAM73B Gene

SuperPathways for FAM73B Gene

No Data Available

Interacting Proteins for FAM73B Gene

Selected Interacting proteins: Q7L4E1-MIGA2_HUMAN for FAM73B Gene via I2D

Symbol External ID(s) Details
STAMBP

Gene Ontology (GO) - Biological Process for FAM73B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM73B Gene

Drugs & Compounds for FAM73B Gene

No Compound Related Data Available

Transcripts for FAM73B Gene

Unigene Clusters for FAM73B Gene

Family with sequence similarity 73, member B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM73B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6:
SP7: - - - - -
SP8: - - -
SP9: - - - - - - - -
SP10: - - - - - -
SP11: - -
SP12: -
SP13: - -
SP14: - - - - -
SP15:
SP16:
SP17:
SP18:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c · 20d ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -
SP16: - -
SP17:
SP18:

Relevant External Links for FAM73B Gene

GeneLoc Exon Structure for
FAM73B
ECgene alternative splicing isoforms for
FAM73B

Expression for FAM73B Gene

mRNA expression in normal human tissues for FAM73B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM73B Gene

This gene is overexpressed in Bone (40.7) and Peripheral blood mononuclear cells (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM73B Gene



SOURCE GeneReport for Unigene cluster for FAM73B Gene Hs.632693

genes like me logo Genes that share expression patterns with FAM73B: view

Protein tissue co-expression partners for FAM73B Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAM73B Gene

Orthologs for FAM73B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM73B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM73B 35
  • 90.67 (n)
  • 94.27 (a)
FAM73B 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM73B 35
  • 89.09 (n)
  • 92.92 (a)
FAM73B 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam73b 35
  • 86.68 (n)
  • 92.58 (a)
Fam73b 16
Fam73b 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM73B 35
  • 99.38 (n)
  • 99.83 (a)
FAM73B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam73b 35
  • 86.04 (n)
  • 90.61 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM73B 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM73B 35
  • 74.48 (n)
  • 80.65 (a)
FAM73B 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM73B 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam73b 35
  • 66.37 (n)
  • 68.75 (a)
Str.11456 35
zebrafish
(Danio rerio)
Actinopterygii fam73b 35
  • 62.9 (n)
  • 63.83 (a)
fam73b 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011689 35
  • 52.97 (n)
  • 42.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12125 35
  • 49.81 (n)
  • 39.05 (a)
CG12125 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K01D12.6 36
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for FAM73B:
  • A. gosspyii yeast (Ashbya 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 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 FAM73B Gene

ENSEMBL:
Gene Tree for FAM73B (if available)
TreeFam:
Gene Tree for FAM73B (if available)

Paralogs for FAM73B Gene

Paralogs for FAM73B Gene

(1) SIMAP similar genes for FAM73B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAM73B: view

Variants for FAM73B Gene

Sequence variations from dbSNP and Humsavar for FAM73B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs6478859 - 129,042,439(+) GTCCC(A/G)AGATG intron-variant, nc-transcript-variant, reference, missense
VAR_037691 -
rs17452596 - 129,049,922(+) GGGAC(A/G)GCCTC nc-transcript-variant, reference, missense
rs1048355 -- 129,071,684(+) TGATG(C/T)TGGGT nc-transcript-variant, utr-variant-3-prime
rs7853838 -- 129,053,406(+) ttgcc(C/G)aggct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM73B Gene

Variant ID Type Subtype PubMed ID
nsv893902 CNV Gain 21882294
dgv8297n71 CNV Loss 21882294
nsv831729 CNV Loss 17160897
nsv509323 CNV Insertion 20534489
nsv818725 CNV Gain 17921354
esv2665493 CNV Deletion 23128226

Variation tolerance for FAM73B 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)

Relevant External Links for FAM73B Gene

HapMap Linkage Disequilibrium report
FAM73B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM73B Gene

Disorders for FAM73B Gene

Relevant External Links for FAM73B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM73B

No disorders were found for FAM73B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM73B Gene

Publications for FAM73B Gene

  1. Mitoguardin regulates mitochondrial fusion through MitoPLD and is required for neuronal homeostasis. (PMID: 26711011) Zhang Y. … Tong C. (Mol. Cell 2016) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  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. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for FAM73B Gene

Sources for FAM73B Gene

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