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    FAHD2A fumarylacetoacetate hydrolase domain containing 2A [ Homo sapiens (human) ]

    Gene ID: 51011, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAHD2Aprovided by HGNC
    Official Full Name
    fumarylacetoacetate hydrolase domain containing 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:24252
    See related
    Ensembl:ENSG00000115042 AllianceGenome:HGNC:24252
    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
    CGI-105
    Summary
    Enables oxaloacetate tautomerase activity. Involved in oxaloacetate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.4), thyroid (RPKM 6.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FAHD2A in Genome Data Viewer
    Location:
    2q11.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95402708..95421656)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95909154..95928138)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96068456..96082364)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene potassium voltage-gated channel interacting protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96040144-96040723 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96041305-96041883 Neighboring gene fatty acid binding protein 7 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:96047731-96047930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96051115-96052015 Neighboring gene uncharacterized LOC124907858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96063267-96063766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96067226-96068165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:96068166-96069104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96081056-96081556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96081557-96082057 Neighboring gene cAMP responsive element binding protein 1 pseudogene Neighboring gene UBTF like 5 (pseudogene)

    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 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. X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. Manjasetty BA, et al. Biol Chem, 2004 Oct. PMID 15551868
    2. A universal metabolite repair enzyme removes a strong inhibitor of the TCA cycle. Zmuda AJ, et al. Nat Commun, 2024 Jan 29. PMID 38287013, Free PMC Article
    3. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. Naukkarinen J, et al. PLoS Genet, 2010 Jun 3. PMID 20532202, Free PMC Article
    4. SARS-CoV-2 hijacks cellular kinase CDK2 to promote viral RNA synthesis. Guo S, et al. Signal Transduct Target Ther, 2022 Dec 27. PMID 36575184, Free PMC Article
    5. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
    2. The X-ray structure of fumarylacetoacetate hydrolase family member FLJ36880 has been determined to 2.2 angstroms resolution employing the semi-automated high-throughput structural genomics approach.
      Title: X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35661, MGC131995

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxaloacetate tautomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in oxaloacetate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    oxaloacetate tautomerase FAHD2A, mitochondrial
    Names
    fumarylacetoacetate hydrolase domain containing 1
    fumarylacetoacetate hydrolase domain-containing protein 2A
    NP_057128.2
    XP_011509585.1
    XP_011509586.1
    XP_011509587.1
    XP_011509588.1
    XP_011509589.1
    XP_011509590.1
    XP_011509592.1
    XP_016859737.1
    XP_016859739.1
    XP_047300576.1
    XP_047300577.1
    XP_047300578.1
    XP_047300579.1
    XP_047300580.1
    XP_047300581.1
    XP_054188836.1
    XP_054188837.1
    XP_054188838.1
    XP_054188839.1
    XP_054188840.1
    XP_054188841.1
    XP_054188842.1
    XP_054188843.1
    XP_054198335.1
    XP_054198336.1
    XP_054198337.1
    XP_054198338.1
    XP_054198339.1
    XP_054198340.1
    XP_054198341.1
    XP_054198342.1
    XP_054198343.1
    XP_054198344.1
    XP_054198345.1
    XP_054198346.1
    XP_054198347.1
    XP_054198348.1
    XP_054198349.1

    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_016044.3 → NP_057128.2  oxaloacetate tautomerase FAHD2A, mitochondrial

      See identical proteins and their annotated locations for NP_057128.2

      Status: VALIDATED

      Source sequence(s)
      AA311902, AC009238, BC110911
      Consensus CDS
      CCDS2014.1
      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0
      Related
      ENSP00000233379.4, ENST00000233379.9
      Conserved Domains (1) summary
      COG0179
      Location:51 → 314
      MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      95402708..95421656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511284.3 → XP_011509586.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509586.1

      Conserved Domains (2) summary
      COG0179
      Location:51 → 284
      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 → 294
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    2. XM_011511287.3 → XP_011509589.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509589.1

      Conserved Domains (2) summary
      COG0179
      Location:51 → 284
      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 → 294
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    3. XM_047444620.1 → XP_047300576.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0
      Related
      ENSP00000406424.1, ENST00000447036.5

    4. XM_011511283.3 → XP_011509585.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509585.1

      Conserved Domains (2) summary
      COG0179
      Location:51 → 284
      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 → 294
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    5. XM_011511285.3 → XP_011509587.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509587.1

      Conserved Domains (2) summary
      COG0179
      Location:51 → 284
      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 → 294
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    6. XM_011511286.3 → XP_011509588.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509588.1

      Conserved Domains (2) summary
      COG0179
      Location:51 → 284
      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 → 294
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    7. XM_047444622.1 → XP_047300578.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    8. XM_017004248.2 → XP_016859737.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

      UniProtKB/TrEMBL
      B4DHE4
      Conserved Domains (1) summary
      cl26540
      Location:51 → 174
      MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

    9. XM_017004250.2 → XP_016859739.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

      UniProtKB/TrEMBL
      B4DHE4
      Conserved Domains (1) summary
      cl11421
      Location:109 → 154
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    10. XM_047444621.1 → XP_047300577.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    11. XM_047444623.1 → XP_047300579.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    12. XM_047444624.1 → XP_047300580.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    13. XM_047444625.1 → XP_047300581.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

    14. XM_011511290.3 → XP_011509592.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

      UniProtKB/TrEMBL
      B4DHE4
      Conserved Domains (1) summary
      cl11421
      Location:109 → 154
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    15. XM_011511288.3 → XP_011509590.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X2

      Conserved Domains (2) summary
      COG0179
      Location:51 → 284
      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 → 294
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    RNA

    1. XR_007076378.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791760.1 Reference GRCh38.p14 PATCHES

      Range
      164779..178725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332865.1 → XP_054188840.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    2. XM_054332868.1 → XP_054188843.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

    3. XM_054332866.1 → XP_054188841.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    4. XM_054332863.1 → XP_054188838.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    5. XM_054332861.1 → XP_054188836.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    6. XM_054332862.1 → XP_054188837.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    7. XM_054332867.1 → XP_054188842.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

    8. XM_054332864.1 → XP_054188839.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    RNA

    1. XR_008485807.1 RNA Sequence

    2. XR_008485803.1 RNA Sequence

    3. XR_008485806.1 RNA Sequence

    4. XR_008485799.1 RNA Sequence

    5. XR_008485802.1 RNA Sequence

    6. XR_008485804.1 RNA Sequence

    7. XR_008485800.1 RNA Sequence

    8. XR_008485801.1 RNA Sequence

    9. XR_008485805.1 RNA Sequence

    10. XR_008485808.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      95909154..95928138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342374.1 → XP_054198349.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

    2. XM_054342364.1 → XP_054198339.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

    3. XM_054342361.1 → XP_054198336.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

    4. XM_054342368.1 → XP_054198343.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    5. XM_054342370.1 → XP_054198345.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    6. XM_054342366.1 → XP_054198341.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X3

      UniProtKB/Swiss-Prot
      Q96GK7, Q9Y3B0

    7. XM_054342362.1 → XP_054198337.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

    8. XM_054342363.1 → XP_054198338.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

    9. XM_054342360.1 → XP_054198335.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X1

    10. XM_054342367.1 → XP_054198342.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    11. XM_054342369.1 → XP_054198344.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    12. XM_054342371.1 → XP_054198346.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X4

    13. XM_054342373.1 → XP_054198348.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

    14. XM_054342372.1 → XP_054198347.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X5

    15. XM_054342365.1 → XP_054198340.1  oxaloacetate tautomerase FAHD2A, mitochondrial isoform X2

    RNA

    1. XR_008486382.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GK7.1 GenPept UniProtKB/Swiss-Prot:Q96GK7

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