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Aliases for FAHD2B Gene

Aliases for FAHD2B Gene

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

External Ids for FAHD2B Gene

Previous GeneCards Identifiers for FAHD2B Gene

  • GC02M097748
  • GC02M091709

Summaries for FAHD2B Gene

GeneCards Summary for FAHD2B Gene

FAHD2B (Fumarylacetoacetate Hydrolase Domain Containing 2B) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is FAHD2A.

UniProtKB/Swiss-Prot for FAHD2B Gene

  • May have hydrolase activity.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAHD2B Gene

Genomics for FAHD2B Gene

Regulatory Elements for FAHD2B Gene

Enhancers for FAHD2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G096977 1.2 Ensembl ENCODE dbSUPER 16 +117.0 117046 0.9 ZBTB21 CTBP1 ZNF316 FOS KLF8 MAFK TCF7L2 ZEB2 TSHZ1 ZSCAN21 FAHD2B ANKRD36B FAM178B RNA5SP101
GH02G096894 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.9 +198.9 198944 2.0 HDGF ARNT TCF12 ELK1 GATA2 FOS ZHX2 NCOA1 ZNF592 KAT8 FAM178B FAHD2B ACTR1B SEMA4C LOC101927053
GH02G097712 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.6 -621.3 -621344 7.6 PKNOX1 ATF1 SIN3A FEZF1 TCF12 ZNF766 GATA2 FOS KLF13 CAVIN1 ZAP70 ACTR1B ANKRD36B FAHD2B LINC01125 LMAN2L COX5B ENSG00000235833 HMGN1P36
GH02G097111 1.1 ENCODE 11.7 -18.2 -18185 2.3 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 ACTR1B FAHD2B SEMA4C ANKRD36 RN7SL313P
GH02G096967 0.7 dbSUPER 16 +124.9 124943 4.3 MAZ KLF1 ZNF398 ZIC2 ZFHX2 ZNF316 SCRT2 PRDM10 ZNF600 HES1 FAHD2B ACTR1B ANKRD36B RNA5SP101 FAM178B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAHD2B on UCSC Golden Path with GeneCards custom track

Promoters for FAHD2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120364 182 1401 PKNOX1 ATF1 RNF2 L3MBTL2 ZBTB8A ATF2 POLR2A FOXK2 PBX2 KLF9

Genomic Location for FAHD2B Gene

Chromosome:
2
Start:
97,082,404 bp from pter
End:
97,094,882 bp from pter
Size:
12,479 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 StructureGene Density

RefSeq DNA sequence for FAHD2B Gene

Proteins for FAHD2B Gene

  • 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

Post-translational modifications for FAHD2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAHD2B Gene

Domains & Families for FAHD2B Gene

Protein Domains for FAHD2B Gene

Suggested Antigen Peptide Sequences for FAHD2B Gene

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

No data available for Gene Families for FAHD2B Gene

Function for FAHD2B Gene

Molecular function for FAHD2B Gene

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

Enzyme Numbers (IUBMB) for FAHD2B Gene

Gene Ontology (GO) - Molecular Function for FAHD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
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:

Animal Model Products

CRISPR Products

miRNA for FAHD2B Gene

miRTarBase miRNAs that target FAHD2B

Inhibitory RNA Products

Clone Products

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 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAHD2B Gene

Pathways & Interactions for FAHD2B Gene

SuperPathways for FAHD2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAHD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with FAHD2B: view

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

Drugs & Compounds for FAHD2B Gene

(2) Drugs for FAHD2B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
Magnesium Nutra 0
genes like me logo Genes that share compounds with FAHD2B: view

Transcripts for FAHD2B Gene

Unigene Clusters for FAHD2B Gene

Fumarylacetoacetate hydrolase domain containing 2B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for FAHD2B Gene

GeneLoc Exon Structure for
FAHD2B
ECgene alternative splicing isoforms for
FAHD2B

Expression for FAHD2B Gene

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



Protein tissue co-expression partners for FAHD2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAHD2B Gene:

FAHD2B

SOURCE GeneReport for Unigene cluster for FAHD2B Gene:

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

Primer Products

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 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 92 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fahd2a 34 16 35
  • 84.66 (n)
rat
(Rattus norvegicus)
Mammalia Fahd2a 34
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18832 34
zebrafish
(Danio rerio)
Actinopterygii fahd2a 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6028 35
  • 44 (a)
ManyToMany
CG11251 35
  • 33 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FMP41 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3072 35
  • 66 (a)
OneToMany
Species where no ortholog for FAHD2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FAHD2B Gene

Paralogs for FAHD2B Gene

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

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

Variants for FAHD2B Gene

Sequence variations from dbSNP and Humsavar for FAHD2B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000490957 -- 97,086,602(+) AAAGA(C/T)TGACA intron-variant
rs1000587371 -- 97,081,672(+) CGCAC(C/T)TCTGC utr-variant-3-prime
rs1001434365 -- 97,093,279(+) GGCCC(A/G)CCAGT intron-variant
rs1001984675 -- 97,081,093(+) CCTCC(A/G)CCCCC utr-variant-3-prime
rs1002035279 -- 97,081,228(+) CTGCC(A/G)CAAGA utr-variant-3-prime

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)

Relevant External Links for FAHD2B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAHD2B Gene

Disorders for FAHD2B Gene

Relevant External Links for FAHD2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAHD2B

No disorders were found for FAHD2B Gene.

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

Publications for FAHD2B Gene

  1. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  2. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 4 64
  3. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for FAHD2B Gene

Sources for FAHD2B Gene

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