Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FA2H Gene

protein-coding GIFtS: 60
GCID: GC16M074746

fatty acid 2-hydroxylase

(Previous names: fatty acid hydroxylase domain containing 1, spastic paraplegia...)
(Previous symbols: FAXDC1, SPG35)

Explore 17 diseases affiliated with
FA2H via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fatty Acid 2-Hydroxylase¹ ²		Fatty Acid Alpha-Hydroxylase² ³
FAAH¹ ² ³ ⁵		FAH1² ⁵
FAXDC1¹ ² ⁵		SCS7² ⁵
SPG35¹ ²		FLJ25287¹
Fatty Acid Hydroxylase Domain Containing 1¹ ²		EC 1.-.-.-³
Spastic Paraplegia 35 (Autosomal Recessive)¹ ²

External Ids:	HGNC: 21197¹	Entrez Gene: 79152²	Ensembl: ENSG00000103089⁷	OMIM: 611026⁵	UniProtKB: Q7L5A8³

Export aliases for FA2H gene to outside databases

Previous GC identifers: GC16M074526 GC16M073304 GC16M060496

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FA2H:

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that

contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity

arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the

existence of many different head groups. Mutations in this gene have been associated with leukodystrophy

dysmyelinating with spastic paraparesis with or without dystonia.(provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8

Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids

summary for FA2H:

Fatty acid amide hydrolase, (FAAH, Oleamide hydrolase, Anandamide amidohydrolase), is an integral membrane

protein that hydrolyzes bioactive amides, including anandamide, to free fatty acid and ethanolamine. FAAH

distribution is noticeably different between human and rat. In humans, FAAH is mainly present in the

pancreas, brain, kidney, skeletal muscle, and placenta. In rat, FAAH is mainly detected in the liver, small

intestine, brain, kidney, spleen, testis, and uterus, but is absent from skeletal muscle and heart. A second

FAAH (FAAH2) was identified recently in humans but is absent from rats and mice.

Gene Wiki entry for FA2H

(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_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FA2H gene promoter:
Egr-1 MyoD MIF-1 Egr-4 E47 YY1 PPAR-alpha Max CP2 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FA2H promoter sequence

Search SABiosciences Chromatin IP Primers for FA2H

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FA2H

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q23 Ensembl cytogenetic band: 16q23.1 HGNC cytogenetic band: 16q23

FA2H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FA2H gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M074746: view genomic region (about GC identifiers)

Start:	74,746,853 bp from pter	End:	74,808,729 bp from pter
Size:	61,877 bases	Orientation:	minus strand

(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: FA2H_HUMAN, Q7L5A8 (See protein sequence)

Recommended Name: Fatty acid 2-hydroxylase

Size: 372 amino acids; 42791 Da

Cofactor: Iron (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass

membrane protein

Sequence caution: Sequence=AAC23496.1; Type=Erroneous gene model prediction;

Secondary accessions: O75213 Q96DK1 Q9H1A5

Explore the universe of human proteins at neXtProt for FA2H: NX_Q7L5A8

FA2H Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_077282.3

ENSEMBL proteins:

ENSP00000219368 ENSP00000455126 ENSP00000464576 ENSP00000442334

Human Recombinant Protein Products for FA2H:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: FA2H OriGene Protein Over-expression Lysate: FA2H OriGene Custom Protein Services for FA2H
	GenScript Custom Purified and Recombinant Proteins Services for FA2H
	Novus Biologicals FA2H Protein Novus Biologicals FA2H Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FA2H

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	--	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IEA	--

FA2H for ontologies About GeneDecksing

FA2H Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of FA2H
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for FA2H
	GenScript Custom Superior Antibodies Services for FA2H
	Novus Biologicals FA2H Antibodies
	Abcam antibodies for FA2H
	Uscn Antibodies for FA2H
	ThermoFisher Antibody for FA2H

Assay Products for FA2H:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FA2H
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FA2H

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FA2H for domains About GeneDecksing

4 InterPro domains/families:

IPR018506 Cyt_B5_heme-BS

IPR006694 Fatty_acid_hydroxylase

IPR014430 Ino-phos-ceramide-B_Hydrxlase

IPR001199 Cyt_B5-like_heme/steroid-bd

Graphical View of Domain Structure for InterPro Entry Q7L5A8

ProtoNet protein and cluster: Q7L5A8

1 Blocks protein family: IPB001199 Cytochrome b5

UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8

Domain: The histidine box domains may contain the active site and/or be involved in metal ion binding

Similarity: Belongs to the sterol desaturase family. SCS7 subfamily

Similarity: Contains 1 cytochrome b5 heme-binding domain

(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: FA2H_HUMAN, Q7L5A8

Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids

Induction: Up-regulated during keratinocyte differentiation

Enzyme Number (IUBMB): EC 1.-.-.-¹

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0016491	oxidoreductase activity	--	--
GO:0020037	heme binding	IEA	--
GO:0080132	fatty acid alpha-hydroxylase activity	IEA	--

FA2H for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for FA2H:

Synthetic lethal with Ras

4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Fa2h):

behavior/neurological

homeostasis/metabolism

nervous system

vision/eye

FA2H for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Fa2h^tm1.1Hama for FA2H

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FA2H

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FA2H
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate FA2H (see all 19):
		hsa-miR-498 hsa-miR-607 hsa-miR-300 hsa-miR-555 hsa-miR-340 hsa-miR-1297 hsa-miR-3159 hsa-miR-3667-5p

		SwitchGear 3'UTR luciferase reporter plasmid: FA2H 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FA2H (see all 7) OriGene shRNA RFP: FA2H OriGene siRNA: FA2H
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FA2H
		Sirion Biotech Custom design and validation of potent shRNA sequences against FA2H

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for FA2H
			Sirion Biotech Customized adenovirus for overexpression of FA2H Sirion Biotech Customized adenovirus for potent knockdown of FA2H

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 FA2H (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FA2H OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FA2H (NM_024306)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FA2H
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FA2H

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FA2H
		Search LifeMap BioReagents cell lines for FA2H
		Sirion Biotech Customized stable knockdown cell line services for FA2H Sirion Biotech Customized inducible knockdown cell line services for FA2H Sirion Biotech Customized stable overexpressing cell line services for FA2H Sirion Biotech Customized inducible overexpressing cell line services for FA2H

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H

(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 Central^TM Interacting Genes and Proteins Networks for FA2H

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/194 Interacting proteins for FA2H (Q7L5A8^{2, 3} ENSP00000219368⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 194)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H2BC	P62807³	I2D: score=1
HIST1H2BE	P62807³	I2D: score=1
HIST1H2BF	P62807³	I2D: score=1
HIST1H2BG	P62807³	I2D: score=1
HIST1H2BI	P62807³	I2D: score=1

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001949	sebaceous gland cell differentiation	IEA	--
GO:0006631	fatty acid metabolic process	--	--
GO:0006633	fatty acid biosynthetic process	IEA	--
GO:0006665	sphingolipid metabolic process	IEA	--
GO:0008219	cell death	IEA	--

FA2H for ontologies About GeneDecksing

(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

FA2H for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for FA2H available from Tocris Bioscience About this table

Compound	Action	CAS #
MAFP	Potent, irreversible FAAH inhibitor	[188404-10-6]
Arachidonyl serotonin	Dual FAAH inhibitor/TRPV1 antagonist	[187947-37-1]
JNJ 1661010	Selective, reversible FAAH inhibitor	[681136-29-8]
Palmitoylisopropylamide	Inhibitor of FAAH	[189939-61-5]
PF 750	Selective FAAH inhibitor	[959151-50-9]

2 HMDB Compounds for FA2H About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Iron	Armco iron (see all 19)	7439-89-6	--

1 Novoseek chemical compound relationship for FA2H gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fatty acid	21.5	4	17355976 (6), 16998236 (5), 15337768 (4), 19068277 (2) (see all 8)

Search CenterWatch for drugs/clinical trials and news about FA2H

(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 FA2H gene:

NM_024306.4

Unigene Cluster for FA2H:

Fatty acid 2-hydroxylase

Hs.461329 [show with all ESTs]

Unigene Representative Sequence: NM_024306

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000562145(uc002fdd.2) ENST00000219368(uc002fde.2 uc010vmy.2)

ENST00000567683 ENST00000569949 ENST00000544337

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FA2H
		8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate FA2H (see all 19):
		hsa-miR-498 hsa-miR-607 hsa-miR-300 hsa-miR-555 hsa-miR-340 hsa-miR-1297 hsa-miR-3159 hsa-miR-3667-5p

		SwitchGear 3'UTR luciferase reporter plasmid: FA2H 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FA2H (see all 7) OriGene shRNA RFP: FA2H OriGene siRNA: FA2H
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FA2H
		Sirion Biotech Custom design and validation of potent shRNA sequences against FA2H

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FA2H (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FA2H OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FA2H (NM_024306)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FA2H
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FA2H

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FA2H Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FA2H
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FA2H
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FA2H

Additional cDNA sequence:

AJ278219.1 AK058016.1 AK303878.1 AK315512.1 BC002679.2 BC004263.1 BC017049.1

5 DOTS entries:

DT.210779 DT.95220893 DT.95276098 DT.95304153 DT.40129265

24/105 AceView cDNA sequences (see all 105):

BM836756 AI214976 BC002679 AI985060 BM769073 BQ083979 BC010453 BQ082695

CB121000 BM773475 AJ278219 BQ068248 BM769933 BU727429 BC017049 BC004263

Z38507 AA454978 CB305910 BG740743 AA857184 AW192986 BG698225 CD631976

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for FA2H About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7
SP1:															-
SP2:
SP3:

ECgene alternative splicing isoforms for FA2H

(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

FA2H expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAGCTTAT

About this image

FA2H expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FA2H Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FA2H

SOURCE GeneReport for Unigene cluster: Hs.461329

UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8

Tissue specificity: Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and

cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas

and kidney

SABiosciences Custom PCR Arrays for FA2H

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FA2H Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FA2H
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FA2H
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FA2H

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H

(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 eukaryotes.

Orthologs for FA2H gene from 10/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fa2h^{1 , 5}	fatty acid 2-hydroxylase^{1, 5}	85.39(n)¹ 82.53(a)¹		8 (57.98 cM)⁵ 338521¹ NM_178086.3¹ NP_835187.2¹ 111345135⁵
chicken (Gallus gallus)	Aves	FA2H¹	fatty acid 2-hydroxylase	72.63(n) 69.32(a)		415687 XM_414053.3 XP_414053.3
lizard (Anolis carolinensis)	Reptilia	FA2H⁶	--	66(a)	1 ↔ 1	GL343840.1(142525-159668)
African clawed frog (Xenopus laevis)	Amphibia	LOC398669²	hypothetical protein LOC398669	74.05(n)		BC054985.1
zebrafish (Danio rerio)	Actinopterygii	fa2h⁶	fatty acid 2-hydroxylase	55(a)	1 ↔ 1	25(13991020-14046662)
fruit fly (Drosophila melanogaster)	Insecta	CG30502¹	CG30502	52.53(n) 38.61(a)		35670 NM_136435.3 NP_610279.3
worm (Caenorhabditis elegans)	Secernentea	CELE_C25A1.5¹	Protein C25A1.5	47.55(n) 45.73(a)		172882 NM_060277.5 NP_492678.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SCS7(YMR272C)⁴ SCS7¹	Sphingolipid alpha-hydroxylase, functions in the alpha-hydroxylation more⁴ Scs7p¹	45.37(n)¹ 37.01(a)¹		13(810777-809623)⁴ 855315^{1, 4} NP_013999.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	FAH2¹	fatty acid hydroxylase 2	51.47(n) 46.98(a)		827835 NM_118205.2 NP_193819.1
rice (Oryza sativa)	Liliopsida	Os12g0628400¹	hypothetical protein	52.55(n) 48.2(a)		4352850 NM_001073861.1 NP_001067329.1

ENSEMBL Gene Tree for FA2H (if available)
TreeFam Gene Tree for FA2H (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28579687^1,2	C,F,H	--	60496309(+)	`ATCCCT/GCCCCA`	1	--	ds500¹		20		NS EA NA WA CSA	2343
rs78007379^1,2	C	--	60496310(+)	`TCCCTC/TCCCAT`	1	--	ds500¹		3		WA CSA	121
rs74501883^1,2	F	--	60496587(+)	`TGCACC/GATCGC`	1	--	ds500¹		1		WA	118
rs7189731^1,2	C,F,A,H	--	60496863(+)	`ATAGCT/GCCGCA`	1	--	ut3¹ ese³		16		NS EA NA WA	1642
rs7184172^1,2	C,F	--	60496865(+)	`AGCTCC/TGCAGC`	1	--	ut3¹ ese³		1		WA	118
rs115575599^1,2	C,F	--	60497036(+)	`GGGCCG/ATCTGA`	1	--	ut3¹		1		WA	118
rs73614641^1,2	C,F	--	60497590(+)	`GTGAAA/TGCGAG`	1	--	ut3¹		4		WA CSA EA	242
rs80215625^1,2	C	--	60497711(+)	`GGCCAC/GGGCCT`	1	--	ut3¹		0	--	--	--	--
rs34393456^1,2		--	60498251(+)	`GTCTTT/CTATTG`	1	--	int¹		4		NA	304
rs75942820^1,2	C,F	--	60499349(+)	`CCTCCG/ACCTCC`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for FA2H (74746853 - 74808729 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FA2H
1 CNV: 49753
Human Gene Mutation Database (HGMD): FA2H

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FA2H

DNA2.0 Custom Variant and Variant Library Synthesis for FA2H

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FA2H for disorders           About GeneDecksing

OMIM gene information: 611026
OMIM disorders: 612443
UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8

Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]. Spastic

paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of

the lower limbs

17 diseases for FA2H: About MalaCards

leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia spastic paraparesis spastic paraplegia 35 spasticity

spastic paraplegia leukodystrophy paraplegia alcohol-related neurodevelopmental disorder

hallervorden-spatz syndrome hereditary spastic paraplegia was-related disorders neurodegeneration

alcoholism ataxia cholesterol hepatitis

prostatitis

5 diseases from the University of Copenhagen DISEASES database for FA2H:

Paraplegia Leukodystrophy alcohol-related neurodevelopmental disorder Aceruloplasminemia

Hallervorden-Spatz syndrome

1 Novoseek disease relationship for FA2H gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukodystrophy	75.6	3	19068277 (2), 20104589 (1), 20026285 (1)

Human Genome Epidemiology (HuGE) Navigator: FA2H (3 documents)

Export disorders for FA2H gene to outside databases

(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 FA2H gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with FA2H)

Utopia: connect your pdf to the dynamic
world of online information

Mutation of FA2H underlies a complicated form of here ditary spastic paraplegia (SPG35). (PubMed id 20104589)^{1, 2, 3, 9} Dick K.J....Crosby A.H. (2010)
Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation. (PubMed id 17355976)^{1, 2, 9} Uchida Y.... Holleran W.M. (2007)
The human FA2H gene encodes a fatty acid 2-hydroxylase. (PubMed id 15337768)^{1, 2, 9} Alderson N.L....Hama H. (2004)
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. (PubMed id 19068277)^{1, 2, 9} Edvardson S.... Elpeleg O. (2008)
C19orf12 and FA2H mutations are rare in Italian patien ts with neurodegeneration with brain iron accumulation. (PubMed id 22704260)¹ Panteghini C....Tiranti V. (2012)
2-Hydroxylated sphingomyelin profiles in cells from p atients with mutated fatty acid 2-hydroxylase. (PubMed id 21599921)¹ Dan P....Saada A. (2011)
FA2H-related disorders: a novel c.270+3A>T splice- site mutation leads to a complex neurodegenerative phenotype. (PubMed id 21592092)¹ Garone C....Franzoni E. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). (PubMed id 20853438)² Kruer M.C....Hayflick S.J. (2010)
Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)¹ Dastani Z....Genest J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 79152	HGNC: 21197	AceView: FA2H	Ensembl:ENSG00000103089	euGenes: HUgn79152
ECgene: FA2H	H-InvDB: FA2H

(According to HUGE)
About This Section

(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 FA2H	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for FA2H	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for FA2H gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FA2H gene:
Search GeneIP for patents involving FA2H

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of FA2H
	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Kits and Assays available from EMD Millipore
	Browse Small Molecules at EMD Millipore

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

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for FA2H
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FA2H		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FA2H
	OriGene Protein Over-expression Lysate for FA2H		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for FA2H		Browse 3'-UTR reporter clones for miRNA target validation
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FA2H		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FA2H
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for FA2H		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for FA2H		OriGene Custom Protein Services for FA2H
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FA2H
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FA2H
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FA2H
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FA2H
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FA2H
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FA2H

	GenScript Custom Purified and Recombinant Proteins Services for FA2H		GenScript cDNA clones with any tag delivered in your preferred vector for FA2H
	GenScript Custom Assay Services for FA2H		GenScript Custom Superior Antibodies Services for FA2H
	GenScript Custom overexpressing Cell Line Services for FA2H		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in FA2H promoter
	Search Chromatin IP Primers for FA2H
	RT² qPCR Primer Assay in human, mouse, rat FA2H
	Search GNC Networks for FA2H
	SABiosciences Custom PCR Arrays for FA2H

Tocris compounds for FA2H

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

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

	Novus Tissue Slides
	FA2H antibodies
	FA2H proteins
	FA2H lysates

	Antibodies for FA2H
	See all of Abcam's Antibodies, Kits and Proteins for FA2H
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

FA2H Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for FA2H

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H

	SwitchGear 3'UTR luciferase reporter plasmids for FA2H
	SwitchGear Promoter luciferase reporter plasmids for FA2H

ThermoFisher Antibody for FA2H

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FA2H

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FA2H

Sirion Biotech Customized:

	stable knockdown cell line services for FA2H
	inducible knockdown cell line services for FA2H
	design and validation of potent shRNA sequences against FA2H
	adenovirus for potent knockdown of FA2H
	adenovirus for overexpression of FA2H
	stable overexpressing cell line services for FA2H
	inducible overexpressing cell line services for FA2H

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FA2H gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

FA2H Gene

fatty acid 2-hydroxylase

Aliases
for FA2H gene

Summaries
for FA2H gene

Genomic Views
for FA2H gene

Proteins
for FA2H gene

Protein Domains /
Families
for FA2H gene

Function
for FA2H gene

Pathways & Interactions
for FA2H gene

Drugs & Compounds
for FA2H gene

Transcripts
for FA2H gene

Expression
for FA2H gene

Orthologs
for FA2H gene

Paralogs
for FA2H gene

Genomic Variants
for FA2H gene

Disorders / Diseases
for FA2H gene

Publications
for FA2H gene

External Searches for FA2H gene

Genome Databases showing FA2H gene

Other Databases showing FA2H gene

Specialized Databases showing FA2H gene

Intellectual Property
for FA2H gene

Products
for FA2H gene

View Random Gene

Advanced Search

Export list of displayed genes

FA2H Gene

fatty acid 2-hydroxylase

Aliasesfor FA2H gene

Summariesfor FA2H gene

Genomic Viewsfor FA2H gene

Proteinsfor FA2H gene

Protein Domains /Familiesfor FA2H gene

Functionfor FA2H gene

Pathways & Interactionsfor FA2H gene

Drugs & Compoundsfor FA2H gene

Transcriptsfor FA2H gene

Expression for FA2H gene

Orthologsfor FA2H gene

Paralogsfor FA2H gene

Genomic Variantsfor FA2H gene

Disorders / Diseasesfor FA2H gene

Publicationsfor FA2H gene

External Searches for FA2H gene

Genome Databases showing FA2H gene

Other Databases showing FA2H gene

Specialized Databases showing FA2H gene

Intellectual Propertyfor FA2H gene

Productsfor FA2H gene

View Random Gene

Aliases
for FA2H gene

Summaries
for FA2H gene

Genomic Views
for FA2H gene

Proteins
for FA2H gene

Protein Domains /
Families
for FA2H gene

Function
for FA2H gene

Pathways & Interactions
for FA2H gene

Drugs & Compounds
for FA2H gene

Transcripts
for FA2H gene

Expression
for FA2H gene

Orthologs
for FA2H gene

Paralogs
for FA2H gene

Genomic Variants
for FA2H gene

Disorders / Diseases
for FA2H gene

Publications
for FA2H gene

Intellectual Property
for FA2H gene

Products
for FA2H gene