Aliases for FAHD2A Gene

Aliases for FAHD2A Gene

  • Fumarylacetoacetate Hydrolase Domain Containing 2A 2 3 5
  • Fumarylacetoacetate Hydrolase Domain-Containing Protein 2A 3 4
  • CGI-105 2 3
  • Fumarylacetoacetate Hydrolase Domain Containing 1 3
  • EC 3.-.-.- 4
  • FAHD2A 5

External Ids for FAHD2A Gene

Previous GeneCards Identifiers for FAHD2A Gene

  • GC02P095490
  • GC02P096068
  • GC02P090095

Summaries for FAHD2A Gene

GeneCards Summary for FAHD2A Gene

FAHD2A (Fumarylacetoacetate Hydrolase Domain Containing 2A) is a Protein Coding gene. Diseases associated with FAHD2A include Congenital Disorder Of Glycosylation, Type Iic and Congenital Disorder Of Glycosylation, Type In. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is FAHD2B.

UniProtKB/Swiss-Prot Summary for FAHD2A Gene

Additional gene information for FAHD2A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAHD2A Gene

Genomics for FAHD2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAHD2A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J095401 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.0 29 3 SP1 CREB1 GATAD2A CTCF ATF7 REST ZNF629 TFE3 RFX1 POLR2A FAHD2A NONHSAG028574.2 lnc-TRIM43B-6 piR-57014-001 TRIM43B
GH02J095729 Enhancer 0.7 ENCODE 11.4 +326.4 326416 0.2 CTCF PRDM1 REST RAD21 SP1 CEBPA SCRT2 CEBPB FOXK2 ZNF444 HSALNG0016987 FAHD2A HSALNG0016986-001 TRIM43 ANKRD36C
GH02J095374 Enhancer 0.2 Ensembl 13.2 -27.4 -27371 0.2 FAHD2A FABP7P2 lnc-TRIM43B-5 KCNIP3
GH02J095389 Enhancer 1.1 Ensembl ENCODE 0.4 -11.2 -11216 4.9 HNRNPL GATAD2A CTCF TFE3 NFKBIZ RCOR2 ZNF143 RXRB ZNF24 REST lnc-TRIM43B-5 ENSG00000235584 ZNF514 CIAO1 FAHD2A lnc-TRIM43B-6 KCNIP3
GH02J095345 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 -56.4 -56352 2.6 CTCF HNRNPL PRDM10 KDM1A TARDBP PRDM1 ZNF143 ZIC2 REST RAD21 KCNIP3 PROM2 piR-35179 lnc-TRIM43B-11 FAHD2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAHD2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAHD2A

Top Transcription factor binding sites by QIAGEN in the FAHD2A gene promoter:
  • E47
  • FOXO3a
  • ITF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • Tal-1
  • Tal-1beta
  • TGIF
  • XBP-1

Genomic Locations for FAHD2A Gene

Genomic Locations for FAHD2A Gene
14,031 bases
Plus strand
13,917 bases
Plus strand

Genomic View for FAHD2A Gene

Genes around FAHD2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAHD2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAHD2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAHD2A Gene

Proteins for FAHD2A Gene

  • Protein details for FAHD2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fumarylacetoacetate hydrolase domain-containing protein 2A
    Protein Accession:
    Secondary Accessions:
    • Q9Y3B0

    Protein attributes for FAHD2A Gene

    314 amino acids
    Molecular mass:
    34596 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for FAHD2A Gene

Post-translational modifications for FAHD2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAHD2A Gene

Domains & Families for FAHD2A Gene

Gene Families for FAHD2A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAHD2A Gene

  • Fumarylacetoacetate (FAA) hydrolase

Suggested Antigen Peptide Sequences for FAHD2A Gene

GenScript: Design optimal peptide antigens:
  • Fumarylacetoacetate hydrolase domain-containing protein 2A (FAH2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAH family.
  • Belongs to the FAH family.
genes like me logo Genes that share domains with FAHD2A: view

Function for FAHD2A Gene

Molecular function for FAHD2A Gene

UniProtKB/Swiss-Prot Function:
May have hydrolase activity.

Enzyme Numbers (IUBMB) for FAHD2A Gene

Phenotypes From GWAS Catalog for FAHD2A Gene

Gene Ontology (GO) - Molecular Function for FAHD2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016836 hydro-lyase activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FAHD2A: view
genes like me logo Genes that share phenotypes with FAHD2A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAHD2A

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAHD2A Gene

Localization for FAHD2A Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAHD2A gene
Compartment Confidence
mitochondrion 3
endoplasmic reticulum 1
golgi apparatus 1
cytosol 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAHD2A Gene

Pathways & Interactions for FAHD2A Gene

PathCards logo

SuperPathways for FAHD2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAHD2A Gene


No data available for Pathways by source and SIGNOR curated interactions for FAHD2A Gene

Drugs & Compounds for FAHD2A Gene

(2) Drugs for FAHD2A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Calcium Nutra 6556
genes like me logo Genes that share compounds with FAHD2A: view

Transcripts for FAHD2A Gene

mRNA/cDNA for FAHD2A Gene

5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAHD2A

Alternative Splicing Database (ASD) splice patterns (SP) for FAHD2A Gene

No ASD Table

Relevant External Links for FAHD2A Gene

GeneLoc Exon Structure for

Expression for FAHD2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAHD2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAHD2A Gene

This gene is overexpressed in Salivary gland (19.9) and Liver (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAHD2A Gene

Protein tissue co-expression partners for FAHD2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAHD2A

SOURCE GeneReport for Unigene cluster for FAHD2A Gene:


Evidence on tissue expression from TISSUES for FAHD2A Gene

  • Skin(4.2)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with FAHD2A: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAHD2A Gene

Orthologs for FAHD2A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FAHD2A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAHD2A 30 31
  • 99.58 (n)
(Canis familiaris)
Mammalia -- 31
  • 93 (a)
  • 89.99 (n)
(Bos Taurus)
Mammalia -- 31
  • 90 (a)
  • 87.15 (n)
(Mus musculus)
Mammalia Fahd2a 31
  • 86 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 59 (a)
(Gallus gallus)
Aves -- 31
  • 69 (a)
  • 65.87 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fahd2a 30
  • 67.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6320 30
(Danio rerio)
Actinopterygii fahd2a 30 31
  • 65.5 (n)
Dr.21429 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.289 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011634 30
  • 55.56 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6028 30 31
  • 52.91 (n)
CG11251 31
  • 33 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP41 31
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3072 31
  • 66 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07506 30
  • 52.24 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.6150 30
Species where no ortholog for FAHD2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FAHD2A Gene

Gene Tree for FAHD2A (if available)
Gene Tree for FAHD2A (if available)
Evolutionary constrained regions (ECRs) for FAHD2A: view image

Paralogs for FAHD2A Gene

Paralogs for FAHD2A Gene

(2) SIMAP similar genes for FAHD2A Gene using alignment to 3 proteins:

  • C9J5B6_HUMAN
  • C9JGM0_HUMAN Pseudogenes for FAHD2A Gene

genes like me logo Genes that share paralogs with FAHD2A: view

Variants for FAHD2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAHD2A Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1045332 - p.Met198Thr

Additional dbSNP identifiers (rs#s) for FAHD2A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAHD2A Gene

Variant ID Type Subtype PubMed ID
esv2759076 CNV loss 17122850
esv3591652 OTHER inversion 21293372
nsv1160825 CNV duplication 26073780
nsv7320 OTHER inversion 18451855
nsv961449 CNV duplication 23825009
nsv998014 CNV gain 25217958

Variation tolerance for FAHD2A Gene

Residual Variation Intolerance Score: 80.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAHD2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAHD2A Gene

Disorders for FAHD2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAHD2A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAHD2A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAHD2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAHD2A Gene

Publications for FAHD2A Gene

  1. Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. (PMID: 20532202) Naukkarinen J … ENGAGE Consortium (PLoS genetics 2010) 3 41
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 3 4
  3. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4

Products for FAHD2A Gene

Sources for FAHD2A Gene