FAHD2A Gene
protein-coding GIFtS: 46
GCID: GC02P096068
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fumarylacetoacetate hydrolase domain containing 2A
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Aliases for FAHD2A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Fumarylacetoacetate Hydrolase Domain Containing 2A1 2 | | CGI-1051 | | Fumarylacetoacetate Hydrolase Domain Containing 12 | | Fumarylacetoacetate Hydrolase Domain-Containing Protein 2A2 | | EC 3.-.-.-3 |
Export aliases for FAHD2A gene to outside databasesPrevious GC identifers: GC02P095490 GC02P090095 |
Summaries for FAHD2A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: FAH2A_HUMAN, Q96GK7Function: May have hydrolase activity (By similarity)
|
Genomic Views for FAHD2A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022171.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the FAHD2A gene promoter: PPAR-gamma1 Tal-1 FOXO3a PPAR-gamma2 XBP-1 TGIF Tal-1beta ITF-2 E47 Other transcription factors
Search SABiosciences Chromatin IP Primers for FAHD2A
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAHD2A |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q11.2 Ensembl cytogenetic band: 2q11.1 HGNC cytogenetic band: 2q11.2FAHD2A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02P096068: view genomic region
(about GC identifiers)
Start:
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96,068,448 bp from pter |
End:
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96,082,364 bp from pter |
Size:
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13,917 bases |
Orientation:
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plus strand |
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Proteins for FAHD2A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: FAH2A_HUMAN, Q96GK7 (See
protein sequence)Recommended Name: Fumarylacetoacetate hydrolase domain-containing protein 2A Size: 314 amino acids; 34596 Da
Cofactor: Calcium (Probable)
Cofactor: Magnesium (Probable)
Secondary accessions: Q9Y3B0Explore the universe of human proteins at neXtProt for FAHD2A: NX_Q96GK7
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96GK7 FAHD2A Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_057128.2 ENSEMBL proteins: ENSP00000405148 ENSP00000406424 ENSP00000233379 ENSP00000390528 Human Recombinant Protein Products for FAHD2A:
FAHD2A Antibody Products: Assay Products for FAHD2A: |
Protein
Domains / Families for FAHD2A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FAHD2A for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96GK7ProtoNet protein and cluster: Q96GK7 1 Blocks protein family: IPB002529 Fumarylacetoacetate (FAA) hydrolase
UniProtKB/Swiss-Prot: FAH2A_HUMAN, Q96GK7Similarity: Belongs to the FAH family |
Function for FAHD2A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: FAH2A_HUMAN, Q96GK7Function: May have hydrolase activity (By similarity) Enzyme Number (IUBMB): EC 3.-.-.-1
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
FAHD2A for ontologies About GeneDecksing
Phenotypes: 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Fahd2a):
FAHD2A for phenotypes About GeneDecksing
Animal Models:
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAHD2A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAHD2A (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: FAHD2A (NM_016044) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAHD2A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAHD2A  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAHD2A |
|
Pathways & Interactions for FAHD2A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAHD2A
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
 1 Interacting protein for FAHD2A (ENSP000002333794) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds for FAHD2A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for FAHD2A
2 HMDB Compounds for FAHD2A About this table Search CenterWatch for drugs/clinical trials and news about FAHD2A / FAH2A 
|
Transcripts for FAHD2A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for FAHD2A gene: NM_016044.2 Unigene Clusters for FAHD2A: Fumarylacetoacetate hydrolase domain containing 2A Hs.531247 [show with all ESTs], Hs.546387 [show with all ESTs]Unigene Representative Sequences: AK092980, BG7155966 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000445649 ENST00000447036 ENST00000233379(uc002sur.3) ENST00000418606 ENST00000463940 ENST00000470100
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAHD2A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAHD2A (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: FAHD2A (NM_016044) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FAHD2A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAHD2A  |
Additional cDNA sequence: AF151863.1 BC009403.2 BC110911.1 14 DOTS entries: DT.450507 DT.305989 DT.100793815 DT.92470090 DT.120995207 DT.120995206 DT.100698654 DT.120995210 DT.95256227 DT.95262501 DT.99964845 DT.102830083 DT.120995280 DT.95153101 24/180 AceView cDNA sequences (see all 180): AI351313 C04735 CF529093 AW197147 BF939969 CD365905 AA449945 BM512384 BC009403 BX363953 CR623858 Z38369 AI362906 CD514796 BM705567 BQ012518 BE857204 CA388768 BM694922 CF528484 BQ011469 BI255081 T47646 BM662259 GeneLoc Exon Structure
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Expression for FAHD2A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FAHD2A expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACGTGAGTGC
 About this image See FAHD2A Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for FAHD2A
SOURCE GeneReport for Unigene clusters: Hs.531247 Hs.546387 SABiosciences Custom PCR Arrays for FAHD2A
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAHD2A Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FAHD2A | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAHD2A | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAHD2A | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAHD2A |
Orthologs for FAHD2A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for FAHD2A gene from 4/23 species (see all 23) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
FAHD2A1 |
fumarylacetoacetate hydrolase domain containing 2A |
65.87(n) 65.75(a) |
  |
426684 XM_424309.3 XP_424309.3 |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.63202 |
Xenopus laevis transcribed sequence with moderate similarity more |
75.96(n) |
  |
CD329191.1 |
zebrafish (Danio rerio) |
Actinopterygii |
Dr.214292 |
Transcribed sequence with moderate similarity to protein more |
77.25(n) |
  |
CK016138.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG60281 |
CG6028 |
52.91(n) 45.1(a) |
  |
42589 NM_142745.3 NP_651002.3 |
ENSEMBL Gene Tree for FAHD2A (if available) TreeFam Gene Tree for FAHD2A (if available)  |
Paralogs for FAHD2A gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for FAHD2A gene
- FAHD2B2 FAHD12
2 SIMAP similar genes for FAHD2A using alignment to 3 protein entries: FAH2A_HUMAN (see all proteins):FAHD2B FAHD1
FAHD2A for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for FAHD2A PGOHUM00000239850 PGOHUM00000250467
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Genomic Variants for FAHD2A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 2 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for FAHD2A (96068448 - 96082364 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for FAHD2A 1 CNV: 3377  | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases for FAHD2A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FAHD2A for disorders About GeneDecksing
3 diseases for FAHD2A: About MalaCardsobesity tuberculosis mycobacterium tuberculosis Human Genome Epidemiology (HuGE) Navigator: FAHD2A (1 document) Export disorders for FAHD2A gene to outside databases
|
Publications for FAHD2A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FAHD2A gene, integrated from 9 sources (see all 12): (articles sorted by number of sources associating them with FAHD2A) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2 Lai C.H....Lin W. (2000)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Use of genome-wide expression data to mine the ' Gray Zone' of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1 Naukkarinen J....Peltonen L. (2010)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. (PubMed id 15551868)1 Manjasetty B.A.... Heinemann U. (2004)
|
External Searches for FAHD2A gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FAHD2A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing FAHD2A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FAHD2A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for FAHD2A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for FAHD2A gene: Search GeneIP for patents involving FAHD2A
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for FAHD2A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
|
 | |
 | |
 |
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variant library, vector shuttling | | OriGene Custom Antibody Services for FAHD2A | | OriGene Custom Protein Services for FAHD2A | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAHD2A | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAHD2A | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAHD2A | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAHD2A | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAHD2A | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAHD2A |
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| | | Search Tocris compounds for FAHD2A |
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 | | FAHD2A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAHD2A |
|  |  |  |  | | | ThermoFisher Antibodies for FAHD2A |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAHD2A |
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