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    FAHD2B fumarylacetoacetate hydrolase domain containing 2B [ Homo sapiens (human) ]

    Gene ID: 151313, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAHD2Bprovided by HGNC
    Official Full Name
    fumarylacetoacetate hydrolase domain containing 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:25318
    See related
    Ensembl:ENSG00000144199 AllianceGenome:HGNC:25318
    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
    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 8.8), ovary (RPKM 4.8) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See FAHD2B in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (97078748..97094882, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (97587843..97601480, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97749320..97760619, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 43C, pseudogene Neighboring gene immunoglobulin kappa variable 2/OR2-2 (pseudogene) Neighboring gene glycerol-3-phosphate acyltransferase 2 pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 313, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16237 Neighboring gene ankyrin repeat domain 36 Neighboring gene NANOG hESC enhancer GRCh37_chr2:97912912-97913497

    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. 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
    2. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    3. TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing. Demirdizen E, et al. Neuro Oncol, 2023 Jun 2. PMID 36215168, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • DKFZp434N062

    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 
    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 FAHD2B, mitochondrial
    Names
    fumarylacetoacetate hydrolase domain-containing protein 2B
    NP_001307777.1
    NP_001307778.1
    NP_955368.1
    XP_011509047.1
    XP_011509048.1
    XP_011509049.1
    XP_011509050.1
    XP_011509052.1
    XP_016858960.1
    XP_024308498.1
    XP_047299470.1
    XP_047299471.1
    XP_047299472.1
    XP_047299473.1
    XP_054188882.1
    XP_054188883.1
    XP_054188884.1
    XP_054188885.1
    XP_054196755.1
    XP_054196756.1
    XP_054196757.1
    XP_054196758.1
    XP_054196759.1
    XP_054196760.1
    XP_054196761.1
    XP_054196762.1
    XP_054196763.1
    XP_054196764.1
    XP_054196765.1

    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_001320848.2 → NP_001307777.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC018892
      Consensus CDS
      CCDS2030.1
      UniProtKB/Swiss-Prot
      D3DXH7, Q6P2I3, Q8NDK1
      Related
      ENSP00000410470.2, ENST00000414820.6
      Conserved Domains (1) summary
      COG0179
      Location:58 → 314
      MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

    2. NM_001320849.2 → NP_001307778.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, the 3' UTR, and the 3' coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC018892, AK295056, BI547630, BQ017817
      UniProtKB/TrEMBL
      B4DHE4
      Related
      ENST00000483657.1
      Conserved Domains (1) summary
      cl11421
      Location:109 → 155
      FAA_hydrolase; Fumarylacetoacetate (FAA) hydrolase family

    3. NM_199336.3 → NP_955368.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform a

      See identical proteins and their annotated locations for NP_955368.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AC018892, BC064511, BI547630
      Consensus CDS
      CCDS2030.1
      UniProtKB/Swiss-Prot
      D3DXH7, Q6P2I3, Q8NDK1
      Related
      ENSP00000272610.3, ENST00000272610.3
      Conserved Domains (1) summary
      COG0179
      Location:58 → 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
      97078748..97094882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510747.4 → XP_011509049.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509049.1

      Conserved Domains (2) summary
      COG0179
      Location:58 → 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_017003471.2 → XP_016858960.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X2

    3. XM_011510745.3 → XP_011509047.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509047.1

      Conserved Domains (2) summary
      COG0179
      Location:58 → 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

    4. XM_011510746.3 → XP_011509048.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011509048.1

      Conserved Domains (2) summary
      COG0179
      Location:58 → 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_011510748.3 → XP_011509050.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X3

      Related
      ENSP00000520919.1, ENST00000850641.1
      Conserved Domains (2) summary
      COG0179
      Location:58 → 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_024452730.2 → XP_024308498.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      D3DXH7, Q6P2I3, Q8NDK1
      Conserved Domains (1) summary
      COG0179
      Location:58 → 314
      MhpD; 2-keto-4-pentenoate hydratase/2-oxohepta-3-ene-1,7-dioic acid hydratase (catechol pathway) [Secondary metabolites biosynthesis, transport and catabolism]

    7. XM_047443517.1 → XP_047299473.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X7

    8. XM_047443516.1 → XP_047299472.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X6

    9. XM_011510750.3 → XP_011509052.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X7

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

    10. XM_047443515.1 → XP_047299471.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X6

    11. XM_047443514.1 → XP_047299470.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791765.1 Reference GRCh38.p14 PATCHES

      Range
      58281..69580 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332907.1 → XP_054188882.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      D3DXH7, Q6P2I3, Q8NDK1

    2. XM_054332910.1 → XP_054188885.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X6

    3. XM_054332909.1 → XP_054188884.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X6

    4. XM_054332908.1 → XP_054188883.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      97587843..97601480 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340781.1 → XP_054196756.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X1

    2. XM_054340783.1 → XP_054196758.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X2

    3. XM_054340780.1 → XP_054196755.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X1

    4. XM_054340782.1 → XP_054196757.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X1

    5. XM_054340784.1 → XP_054196759.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X3

    6. XM_054340785.1 → XP_054196760.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X4

      UniProtKB/Swiss-Prot
      D3DXH7, Q6P2I3, Q8NDK1

    7. XM_054340790.1 → XP_054196765.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X7

    8. XM_054340788.1 → XP_054196763.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X6

    9. XM_054340789.1 → XP_054196764.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X7

    10. XM_054340787.1 → XP_054196762.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X6

    11. XM_054340786.1 → XP_054196761.1  oxaloacetate tautomerase FAHD2B, mitochondrial isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P2I3.1 GenPept UniProtKB/Swiss-Prot:Q6P2I3

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