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

Gene ID: 151313, updated on 10-Dec-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, Dec 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
  • 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)

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

  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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4

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

    UniProtKB/TrEMBL
    B4DHE4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P2I3.1 GenPept UniProtKB/Swiss-Prot:Q6P2I3

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