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FAHD2A Gene

protein-coding GIFtS: 46

GC02P095490

fumarylacetoacetate hydrolase domain containing 2A
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
CGI-105 ^¹, ²
EC 3.-.-.- ^³
MGC131995 ^²

Descriptions
fumarylacetoacetate hydrolase domain containing 1 ^²
fumarylacetoacetate hydrolase domain containing 2A ^²

External Ids
HGNC: 24252¹
Entrez Gene: 51011²
UniProtKB: Q96GK7³
Ensembl: ENSG00000115042⁷

Search outside databases for aliases for FAHD2A gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: FAH2A_HUMAN, Q96GK7

Function: May have hydrolase activity (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the FAHD2A gene

Entrez Gene cytogenetic band: 2p24.3-p11.2 Ensembl cytogenetic band: 2q11.1 HGNC cytogenetic band: 2q11.2

FAHD2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P095490: (about GC identifiers)

Start:	95,432,175 bp from pter
End:	95,442,606 bp from pter
Size:	10,432 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000002.10 NT_026970.9

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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: Q9Y3B0

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_057128.2

ENSEMBL proteins:

ENSP00000233379

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (FAHD2A)

OriGene Purified Recombinant Human Protein: FAHD2A

Antibodies for FAHD2A:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for FAHD2A
	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Monoclonal and Polyclonal Antibodies from Abnova (FAHD2A)
	Novus Biologicals Antibody for FAHD2A

Assays for FAHD2A:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q96GK7

ProtoNet protein and cluster: Q96GK7

1 Blocks protein family: IPB002529 Fumarylacetoacetate (FAA) hydrolase

UniProtKB/Swiss-Prot: FAH2A_HUMAN, Q96GK7

Similarity: Belongs to the FAH family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAHD2A)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016044

Applied Biosystems Silencer® siRNAs for FAHD2A

Sigma-Aldrich siRNA for FAHD2A

Sigma-Aldrich shRNA for FAHD2A

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for FAHD2A
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_016044
Myc/DDK tagged cDNA clone in CMV expression vector: NM_016044
untagged cDNA clones in CMV expression vector (see all 2): NM_016044

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_016044

UniProtKB/Swiss-Prot: FAH2A_HUMAN, Q96GK7

Function: May have hydrolase activity (By similarity)

Enzyme Number (IUBMB): EC 3.-.-.-

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0016787	hydrolase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008152	metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FAHD2A

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAHD2A)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_016044

Sigma-Aldrich siRNA for FAHD2A

Sigma-Aldrich shRNA for FAHD2A

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_016044

REFSEQ mRNAs for FAHD2A gene:

NM_016044.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_016044

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_016044
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_016044
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_016044

Additional cDNA sequence:

AF151863.1 BC009403.2 BC110911.1 CR623858.1

11 DOTS entries:

DT.450507 DT.100793815 DT.92470090 DT.120995207 DT.120995206 DT.100698654 DT.120995210 DT.95256227

DT.102830083 DT.120995280 DT.95153101

24/180 AceView cDNA sequences (see all 180 ):

BM512384 BM662259 BI255081 BU854963 BM705567 CF529575 BU734859 BM694922

AA449945 BQ011469 CR623858 AI351313 BF593987 CF529218 BF939969 C04735

CA388768 AA766732 BF431652 CA454375 Z38369 AI422177 AW197147 CF528484

highest scoring ESTs for FAHD2A:

AA449945 AA621746 AA663982 AA664042 AA775453 AA834370 AA847549 AA854333 AF151863 AI042548

Unigene Cluster for FAHD2A:

Fumarylacetoacetate hydrolase domain containing 2A

Hs.546387 [show with all ESTs]

Unigene Representative Sequence: CR623858

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000233379

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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FAHD2A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FAHD2A

¹ / ² / ³

5 probe-sets matching FAHD2A gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
78700_s_at²^{, 3}	U95-E	3	1.00	0.64	1.00	1.00	AI768357	0.40	0.33	0.37	1
222056_s_at²^{, 3}	U133-A	3	1.00	0.64	--	--	AA723370	0.60	1.00	0.82	1
218504_at²^{, 3}	U133-A	3	1.00	0.61	--	--	NM_016044	0.60	1.00	0.82	1
222056_s_at²	U133Plus2	3	1.00	0.64	--	--	--	--	--	--	--
218504_at²	U133Plus2	3	1.00	0.61	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: ACGTGAGTGC

SOURCE GeneReport for Unigene cluster: Hs.546387

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for FAHD2A gene from 5/14 species (see all 14 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FAHD2A¹	--	fumarylacetoacetate hydrolase domain containing 2A	89.99(n) 94.25(a)	475745 XM_532952.2 XP_532952.2
chimpanzee (Pan troglodytes)	FAHD2A¹	--	fumarylacetoacetate hydrolase domain containing 2A	99.58(n) 99.04(a)	459402 XM_515620.2 XP_515620.2
cow (Bos taurus)	FAHD2A¹	--	fumarylacetoacetate hydrolase domain containing 2A	87.15(n) 89.81(a)	404123 NM_205790.1 NP_991359.1
rat (Rattus norvegicus)	Fahd2a¹	--	fumarylacetoacetate hydrolase domain containing 2A	84.35(n) 84.35(a)	296131 XM_215851.4 XP_215851.2
mouse (Mus musculus)	Fahd2a^{1, 5}	2⁵	fumarylacetoacetate hydrolase domain containing 2A^{1, 5}	85.09(n)¹ 86.26(a)¹	68126¹ NM_029629.1¹ NP_083905.1¹ AI428279⁵ AI841210⁵ (see all 12)

About this table Species with no ortholog for FAHD2A

ENSEMBL Gene Tree for FAHD2A

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for FAHD2A gene

FAHD2B² FAHD1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/36 NCBI SNPs in FAHD2A are shown (see all 36 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 5)

AB	SNP ID	Valid	Chr 2 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs1045332^1,2	C,F	95440409(+)	`GCAAAT/CGAGAC`	1	T/M	mis¹ ese³		1		MN	184
--	rs6577014^1,2	C,F,H	95440136(+)	`TGACCT/CCACTC`	1	--	int¹		7		EU EA WA NA	560
	rs11680521^1,2	H	95441771(+)	`ACATAG/AAGCAC`	1	--	int¹		4		EU EA WA	418
--	rs2015910^1,2	H	95440891(-)	`CACAGT/GGGCTG`	1	--	int¹		4		EU EA WA	418
--	rs1814305^1,2	F	95440297(-)	`GATCAT/CGGGTG`	1	--	int¹		4		NA EA MN	436
--	rs2874267^1,2	C	95440614(+)	`CCTTTC/GACTGC`	1	--	int¹		0	--	--	--	--
--	rs1045330^1,2	--	95440406(+)	`CTGGCA/TAATGA`	1	Q/L	mis¹ ese³		1		MN	184
--	rs1045311^1,2	--	95432308(+)	`CGAGCC/TCTAAC`	1	--	ut5¹ ese³		0	--	--	--	--
--	rs1045349^1,2	--	95441962(+)	`AGAGCA/GGCAAC`	1	G/S	mis¹ ese³		0	--	--	--	--
	rs1045310^1,2	--	95432296(+)	`CCTTCC/GGCCCC`	1	--	ut5¹ ese³		0	--	--	--	--

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HapMap Linkage Disequilibrium images for FAHD2A (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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6 PubMed articles for FAHD2A gene:

Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)^{3, 4} Lai C.H....Lin W. (2000)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)⁴ Hillier L.W....Wilson R.K. (2005)
X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880. (PubMed id 15551868)³ Manjasetty B.A.... Heinemann U. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)⁴ Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)³ Adams M.D....White O. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 51011	HGNC: 24252	AceView: FAHD2A	Ensembl:ENSG00000115042	euGenes: HUgn51011
ECgene: FAHD2A	H-InvDB: FAHD2A

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Licensable Technologies for FAHD2A
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for FAHD2A:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for FAHD2A-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for FAHD2A		Antibodies for FAHD2A
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for FAHD2A		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Cell Culture Products		ELISAs
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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for FAHD2A

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for FAHD2A

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FAHD2A Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for FAHD2A

Summaries
for FAHD2A

Genomic Location
for FAHD2A

Proteins
for FAHD2A

Protein Domains/
Families
for FAHD2A

Gene Function
for FAHD2A

Pathways & Interactions
for FAHD2A

Drugs & Compounds
for FAHD2A

Transcripts
for FAHD2A

Expression
for FAHD2A

Orthologs
for FAHD2A

Paralogs
for FAHD2A

SNPs/Variants
for FAHD2A

Disorders & Mutations
for FAHD2A

Medical News
for FAHD2A

Publications
for FAHD2A

Search for FAHD2A

Genome Databases showing FAHD2A

Other Databases showing FAHD2A

Specialized Databases showing FAHD2A

Licensable Technologies
for FAHD2A

Services
for FAHD2A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

FAHD2A Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor FAHD2A

Summariesfor FAHD2A

Genomic Locationfor FAHD2A

Proteinsfor FAHD2A

Protein Domains/Familiesfor FAHD2A

Gene Functionfor FAHD2A

Pathways & Interactionsfor FAHD2A

Drugs & Compoundsfor FAHD2A

Transcriptsfor FAHD2A

Expression for FAHD2A

Orthologsfor FAHD2A

Paralogsfor FAHD2A

SNPs/Variantsfor FAHD2A

Disorders & Mutationsfor FAHD2A

Medical Newsfor FAHD2A

Publicationsfor FAHD2A

Search for FAHD2A

Genome Databases showing FAHD2A

Other Databases showing FAHD2A

Specialized Databases showing FAHD2A

Licensable Technologiesfor FAHD2A

Servicesfor FAHD2A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for FAHD2A

Summaries
for FAHD2A

Genomic Location
for FAHD2A

Proteins
for FAHD2A

Protein Domains/
Families
for FAHD2A

Gene Function
for FAHD2A

Pathways & Interactions
for FAHD2A

Drugs & Compounds
for FAHD2A

Transcripts
for FAHD2A

Expression
for FAHD2A

Orthologs
for FAHD2A

Paralogs
for FAHD2A

SNPs/Variants
for FAHD2A

Disorders & Mutations
for FAHD2A

Medical News
for FAHD2A

Publications
for FAHD2A

Licensable Technologies
for FAHD2A

Services
for FAHD2A