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    Fahd2a fumarylacetoacetate hydrolase domain containing 2A [ Mus musculus (house mouse) ]

    Gene ID: 68126, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Fahd2aprovided by MGI
    Official Full Name
    fumarylacetoacetate hydrolase domain containing 2Aprovided by MGI
    Primary source
    MGI:MGI:1915376
    See related
    Ensembl:ENSMUSG00000027371 AllianceGenome:MGI:1915376
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fahd2; Cgi-105; 1500003K14Rik; B430104H02Rik
    Summary
    Predicted to enable oxaloacetate tautomerase activity. Predicted to be involved in oxaloacetate metabolic process. Located in mitochondrion. Orthologous to several human genes including FAHD2A (fumarylacetoacetate hydrolase domain containing 2A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 26.8), adrenal adult (RPKM 13.0) and 28 other tissues See more
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    Genomic context

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    See Fahd2a in Genome Data Viewer
    Location:
    2 F1; 2 62.01 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (127278135..127286491, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (127436215..127444571, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 39923 Neighboring gene STARR-seq mESC enhancer starr_05626 Neighboring gene glycerol-3-phosphate acyltransferase 2, mitochondrial Neighboring gene STARR-positive B cell enhancer mm9_chr2:127279437-127279737 Neighboring gene Kv channel interacting protein 3, calsenilin Neighboring gene predicted gene, 35478 Neighboring gene predicted gene, 54151 Neighboring gene prominin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Differential expression of murine CGI-105 gene in 3T3-L1 cells by adrenocorticotropic hormones. Choi H, et al. Cell Biol Int, 2005 Feb. PMID 15774318
    2. Chemical Crosslinking Mass Spectrometry Analysis of Protein Conformations and Supercomplexes in Heart Tissue. Chavez JD, et al. Cell Syst, 2018 Jan 24. PMID 29199018, Free PMC Article
    3. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article
    4. Ex vivo Quantitative Proteomic Analysis of Serotonin Transporter Interactome: Network Impact of the SERT Ala56 Coding Variant. Quinlan MA, et al. Front Mol Neurosci, 2020. PMID 32581705, Free PMC Article
    5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CGI-105 mRNA is induced in differentiating 3T3-L1 cells by adrenocorticotropic hormones.
      Title: Differential expression of murine CGI-105 gene in 3T3-L1 cells by adrenocorticotropic hormones.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxaloacetate tautomerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in oxaloacetate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    oxaloacetate tautomerase Fahd2a, mitochondrial; fumarylacetoacetate hydrolase domain-containing protein 2A
    NP_083905.1
    XP_006500153.1
    XP_006500154.1

    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_029629.2 → NP_083905.1  oxaloacetate tautomerase Fahd2a, mitochondrial

      See identical proteins and their annotated locations for NP_083905.1

      Status: VALIDATED

      Source sequence(s)
      AI841210, AK080868, BY269533
      Consensus CDS
      CCDS16702.1
      UniProtKB/Swiss-Prot
      A0A0R4J094, Q3TC72, Q8K0V8
      Related
      ENSMUSP00000028848.4, ENSMUST00000028848.4
      Conserved Domains (2) summary
      COG0179
      Location:51 → 313
      MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]
      pfam01557
      Location:109 → 312
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      127278135..127286491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006500090.2 → XP_006500153.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

      Conserved Domains (1) summary
      COG0179
      Location:27 → 223
      MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

    2. XM_006500091.1 → XP_006500154.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X2

      Conserved Domains (1) summary
      pfam01557
      Location:1 → 152
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_026568.1: Suppressed sequence

      Description
      NM_026568.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TC72.2 GenPept UniProtKB/Swiss-Prot:Q3TC72

    Gene LinkOut

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

    Chemical Information
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