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

Gene ID: 51011, updated on 3-Apr-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
Predicted to enable hydro-lyase activity. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95402708..95421656)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95909154..95928138)
105.20220307 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
  • 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. 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
  3. 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
  4. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
  5. USP11 mediates repair of DNA-protein cross-links by deubiquitinating SPRTN metalloprotease. Perry M, et al. J Biol Chem, 2021 Jan-Jun. PMID 33567341, Free PMC Article

See all (18) 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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
fumarylacetoacetate hydrolase domain-containing protein 2A
Names
fumarylacetoacetate hydrolase domain containing 1
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  fumarylacetoacetate hydrolase domain-containing protein 2A

    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_2023_10

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  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

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

  4. XM_011511283.3 → XP_011509585.1  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  8. XM_017004248.2 → XP_016859737.1  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  11. XM_047444623.1 → XP_047300579.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  12. XM_047444624.1 → XP_047300580.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  13. XM_047444625.1 → XP_047300581.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  14. XM_011511290.3 → XP_011509592.1  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0

  2. XM_054332868.1 → XP_054188843.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  3. XM_054332866.1 → XP_054188841.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0

  4. XM_054332863.1 → XP_054188838.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0

  5. XM_054332861.1 → XP_054188836.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0

  6. XM_054332862.1 → XP_054188837.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0

  7. XM_054332867.1 → XP_054188842.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  8. XM_054332864.1 → XP_054188839.1  fumarylacetoacetate hydrolase domain-containing protein 2A 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  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  2. XM_054342364.1 → XP_054198339.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

  3. XM_054342361.1 → XP_054198336.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

  4. XM_054342368.1 → XP_054198343.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  5. XM_054342370.1 → XP_054198345.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  6. XM_054342366.1 → XP_054198341.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X3

    UniProtKB/Swiss-Prot
    Q96GK7, Q9Y3B0

  7. XM_054342362.1 → XP_054198337.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

  8. XM_054342363.1 → XP_054198338.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

  9. XM_054342360.1 → XP_054198335.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X1

  10. XM_054342367.1 → XP_054198342.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  11. XM_054342369.1 → XP_054198344.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  12. XM_054342371.1 → XP_054198346.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X4

  13. XM_054342373.1 → XP_054198348.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  14. XM_054342372.1 → XP_054198347.1  fumarylacetoacetate hydrolase domain-containing protein 2A isoform X5

  15. XM_054342365.1 → XP_054198340.1  fumarylacetoacetate hydrolase domain-containing protein 2A 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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