FAHD2B Gene (Protein Coding)

Fumarylacetoacetate Hydrolase Domain Containing 2B

GC02M097082
GIFtS:
31
See more...

Aliases for FAHD2B Gene

Aliases for FAHD2B Gene

  • Fumarylacetoacetate Hydrolase Domain Containing 2B 2 3 5
  • Fumarylacetoacetate Hydrolase Domain-Containing Protein 2B 3 4
  • DKFZp434N062 2
  • EC 3.-.-.- 4
  • FAHD2B 5

External Ids for FAHD2B Gene

Previous GeneCards Identifiers for FAHD2B Gene

  • GC02M097114
  • GC02M097748
  • GC02M091709

Summaries for FAHD2B Gene

GeneCards Summary for FAHD2B Gene

FAHD2B (Fumarylacetoacetate Hydrolase Domain Containing 2B) is a Protein Coding gene. Diseases associated with FAHD2B include Hermansky-Pudlak Syndrome 5. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is FAHD2A.

UniProtKB/Swiss-Prot Summary for FAHD2B Gene

Additional gene information for FAHD2B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAHD2B Gene

Genomics for FAHD2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FAHD2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAHD2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAHD2B

Top Transcription factor binding sites by QIAGEN in the FAHD2B gene promoter:
  • AhR
  • Arnt
  • Bach1
  • C/EBPalpha
  • HEN1
  • Max
  • NCX
  • Nkx2-5
  • Pax-5
  • XBP-1

Genomic Locations for FAHD2B Gene

Genomic Locations for FAHD2B Gene
chr2:97,080,738-97,094,882
(GRCh38/hg38)
Size:
14,145 bases
Orientation:
Minus strand
chr2:97,749,320-97,760,619
(GRCh37/hg19)
Size:
11,300 bases
Orientation:
Minus strand

Genomic View for FAHD2B Gene

Genes around FAHD2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAHD2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAHD2B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAHD2B Gene

Proteins for FAHD2B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FAHD2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P2I3-FAH2B_HUMAN
    Recommended name:
    Fumarylacetoacetate hydrolase domain-containing protein 2B
    Protein Accession:
    Q6P2I3
    Secondary Accessions:
    • D3DXH7
    • Q8NDK1

    Protein attributes for FAHD2B Gene

    Size:
    314 amino acids
    Molecular mass:
    34613 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for FAHD2B Gene

Protein Expression for FAHD2B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAHD2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAHD2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAHD2B Gene

Domains & Families for FAHD2B Gene

Gene Families for FAHD2B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAHD2B Gene

InterPro:
Blocks:
  • Fumarylacetoacetate (FAA) hydrolase
ProtoNet:

Suggested Antigen Peptide Sequences for FAHD2B Gene

GenScript: Design optimal peptide antigens:
  • Fumarylacetoacetate hydrolase domain-containing protein 2B (FAH2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P2I3

UniProtKB/Swiss-Prot:

FAH2B_HUMAN :
  • Belongs to the FAH family.
Family:
  • Belongs to the FAH family.
genes like me logo Genes that share domains with FAHD2B: view

Function for FAHD2B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for FAHD2B Gene

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

Enzyme Numbers (IUBMB) for FAHD2B Gene

Phenotypes From GWAS Catalog for FAHD2B Gene

Gene Ontology (GO) - Molecular Function for FAHD2B 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 FAHD2B: view
genes like me logo Genes that share phenotypes with FAHD2B: view

Animal Models for FAHD2B Gene

MGI Knock Outs for FAHD2B:
  • Fahd2a Fahd2a<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for FAHD2B Gene

miRTarBase miRNAs that target FAHD2B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAHD2B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAHD2B Gene

Localization for FAHD2B Gene

Subcellular locations from

COMPARTMENTS
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 FAHD2B gene
Compartment Confidence
mitochondrion 3
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 FAHD2B Gene

Pathways & Interactions for FAHD2B Gene

PathCards logo

SuperPathways for FAHD2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAHD2B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAHD2B Gene

Drugs & Compounds for FAHD2B Gene

Products:

  1. Drug

(2) Drugs for FAHD2B 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 FAHD2B: view

Transcripts for FAHD2B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FAHD2B Gene

3 REFSEQ mRNAs :
6 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 FAHD2B

Alternative Splicing Database (ASD) splice patterns (SP) for FAHD2B Gene

No ASD Table

Relevant External Links for FAHD2B Gene

GeneLoc Exon Structure for
FAHD2B

Expression for FAHD2B Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAHD2B Gene

mRNA expression in normal human tissues for FAHD2B Gene
mRNA expression by BioGPS for FAHD2B GenemRNA expression by GTEx for FAHD2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAHD2B Gene

This gene is overexpressed in Heart (40.0), Brain (9.2), and Skin (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAHD2B Gene



Protein tissue co-expression partners for FAHD2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAHD2B

SOURCE GeneReport for Unigene cluster for FAHD2B Gene:

Hs.567723
genes like me logo Genes that share expression patterns with FAHD2B: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAHD2B Gene

Orthologs for FAHD2B Gene

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

Orthologs for FAHD2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FAHD2B 30 31
  • 99.15 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia -- 31
  • 92 (a)
 OneToMany
Cow
(Bos Taurus)
 Mammalia -- 31
  • 89 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Fahd2a 30 17 31
  • 84.66 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Fahd2a 30
  • 84.13 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 82 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 58 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves -- 31
  • 68 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia Str.18832 30
Zebrafish
(Danio rerio)
 Actinopterygii fahd2a 31
  • 63 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6028 31
  • 44 (a)
 ManyToMany
CG11251 31
  • 33 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FMP41 31
  • 27 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.3072 31
  • 66 (a)
 OneToMany
Species where no ortholog for FAHD2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 FAHD2B Gene

ENSEMBL:
Gene Tree for FAHD2B (if available)
TreeFam:
Gene Tree for FAHD2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAHD2B: view image

Paralogs for FAHD2B Gene

Paralogs for FAHD2B Gene

(2) SIMAP similar genes for FAHD2B Gene using alignment to 1 proteins:

  • FAH2B_HUMAN
genes like me logo Genes that share paralogs with FAHD2B: view

Variants for FAHD2B Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Additional dbSNP identifiers (rs#s) for FAHD2B Gene

Structural Variations from Database of Genomic Variants (DGV) for FAHD2B Gene

Variant ID Type Subtype PubMed ID
dgv1142e212 CNV loss 25503493
dgv4010n100 CNV gain 25217958
dgv4011n100 CNV loss 25217958
dgv4012n100 CNV loss 25217958
dgv4013n100 CNV gain+loss 25217958
dgv4014n100 CNV gain 25217958
dgv4015n100 CNV gain+loss 25217958
dgv4016n100 CNV loss 25217958
dgv607e201 CNV deletion 23290073
esv2759077 CNV gain+loss 17122850
esv2760609 CNV gain+loss 21179565
esv2763630 CNV gain+loss 21179565
esv3425717 CNV duplication 20981092
esv3583955 CNV loss 25503493
esv3591697 CNV loss 21293372
esv3591698 CNV gain 21293372
esv3591699 CNV loss 21293372
esv3892959 CNV loss 25118596
esv5003 OTHER complex 18987735
nsv1000203 CNV gain+loss 25217958
nsv1011763 CNV gain 25217958
nsv1131492 CNV deletion 24896259
nsv1135873 CNV deletion 24896259
nsv470477 CNV loss 18288195
nsv834308 CNV gain 17160897
nsv979067 CNV duplication 23825009

Variation tolerance for FAHD2B Gene

Residual Variation Intolerance Score: 65.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.78; 66.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAHD2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAHD2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAHD2B Gene

Disorders for FAHD2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAHD2B Gene - From: DISEASES

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 5
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAHD2B

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAHD2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAHD2B Gene

Publications for FAHD2B Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome AS … Carapito C (Proteomics 2015) 4
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4

ExternalLinks

View latest publications for FAHD2B gene in Mastermind

Products for FAHD2B Gene

Sources for FAHD2B Gene