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FA2H Gene

protein-coding   GIFtS: 54

GC16M073304
fatty acid 2-hydroxylase
(Previous name: fatty acid hydroxylase domain containing 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: FAXDC1)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 1.-.-.- 3
FAAH 1, 2, 3, 5
FAH1 2, 5
FAXDC1 2, 5
FLJ25287 1, 2
SCS7 2, 5
Descriptions
Fatty acid alpha-hydroxylase 3
fatty acid 2-hydroxylase 2
fatty acid hydroxylase domain containing 1 1, 2
External Ids
HGNC: 211971
Entrez Gene: 791522
UniProtKB: Q7L5A83
Ensembl: ENSG000001030897
Search outside databases for aliases for FA2H gene

Previous GC identifer: GC16M074526

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for FA2H:
Sphingolipids are a large class of lipids found in all eukaryotic cells and are involved in
numerous cellular processes. The structural diversity of sphingolipids stems from more than 300
distinct head groups, as well as from modifications of the hydrophobic ceramide moiety. FA2H
catalyzes a common modification of the ceramide moiety: hydroxylation at the 2 position of the
N-acyl chain. Sphingolipids containing 2-hydroxy fatty acid are common in nervous and epidermal
tissue. Glycosphingolipids containing a high proportion of 2-hydroxy fatty acid are critical
components of myelin, and several very long chain ceramides with 2-hydroxy fatty acids are
important for the permeability barrier function of epidermis (Alderson et al., 2004 [PubMed
15337768]).[supplied by OMIM]

UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8
Function: Required for alpha-hydroxylation of free fatty acids and the formation of
alpha-hydroxylated sphingolipids

(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)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the FA2H gene  

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)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M073304:     (about GC identifiers)

Start:
73,304,359 bp from pter
End:
73,366,224 bp from pter
Size:
61,866 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000016.8  NT_010498.15  
(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: 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

REFSEQ proteins: NP_077282.3  

ENSEMBL proteins: 
ENSP00000219368 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (FA2H)
Human Recombinant Proteins from Abnova (FA2H)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0005792 microsome IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for FA2H: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (FA2H), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (FA2H)
Novus Biologicals Antibody for FA2H

Assays for FA2H: 
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)
About This Section

4 InterPro domains/families:
 IPR018506 Cyt_B5_heme-BS
 IPR006694 Fatty_acid_hydroxylase
 IPR014430 Ino-phos-ceramide-B_Hydrxlase
 IPR001199 Cyt_B5


   GeneDecks  FA2H for the domains selected above  
About GeneDecksing

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 SCS7 family
Similarity: Contains 1 cytochrome b5 heme-binding domain

(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 (FA2H)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024306

              Applied Biosystems Silencer® siRNAs for FA2H

              Sigma-Aldrich siRNA for FA2H  
                     Sigma-Aldrich shRNA for FA2H  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for FA2H
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_024306
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_024306
                                 untagged cDNA clone in CMV expression vector: NM_024306 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_024306

UniProtKB/Swiss-Prot: 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.-.-.- 

2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fa2h):

behavior/neurologicalnervous system

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016491 oxidoreductase activity IEA--
GO:0020037 heme binding IEA--
GO:0046872 metal ion binding 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.)
About This Section


  --

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006633 fatty acid biosynthetic process IEA--
GO:0006665 sphingolipid metabolic process IEA--
GO:0006810 transport IEA--
GO:0022900 electron transport chain IEA--
About this table
(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 FA2H

(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 (FA2H)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_024306

              Sigma-Aldrich siRNA for FA2H  
                     Sigma-Aldrich shRNA for FA2H  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_024306  

REFSEQ mRNAs for FA2H gene: 

NM_024306.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_024306  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_024306
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_024306
                                 untagged cDNA clone in CMV expression vector: NM_024306 

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.40129265  DT.95276098  DT.95304153 

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

Z38507 BC002679 BC010453 BQ068248 AI214976 BM773475 BC017049 BU727429 
BQ083979 AI985060 CB121000 AJ278219 BQ082695 BM836756 BM769073 BC004263 
BM769933 AL558039 AA857184 CB852331 BE531007 CD631976 AW135352 AW192986 

highest scoring ESTs for FA2H:

AK058016 AL558039 BC002679 BC004263 BC017049 BE531007 BE872288 BG697085 BG697245 BG740743 

Unigene Cluster for FA2H:

Fatty acid 2-hydroxylase
Hs.461329  [show with all ESTs]
Unigene Representative Sequence: NM_024306


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for FA2H

1 Ensembl transcript including schematic representation:
ENST00000219368  
(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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FA2H expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for FA2H

1 / 2 / 3

5 probe-sets matching FA2H gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
50926_s_at2, 3 U95-C 1 1.00 1.00 1.00 1.00 R54585 0.80 1.00 0.91 1

234963_s_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

219429_at2, 3 U133-A 1 1.00 1.00 -- -- NM_024306 0.60 1.00 0.82 1

234963_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

219429_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  FA2H for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TTGAGCTTAT

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

(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)
About This Section


Orthologs for FA2H gene from 5/19 species (see all 19 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
FA2H1   -- fatty acid 2-hydroxylase 84.86(n)
80.91(a)
610417  XM_847921.1  XP_853014.1 
chimpanzee
(Pan troglodytes)
FA2H1   -- fatty acid 2-hydroxylase 87.95(n)
85.24(a)
454243  XM_511106.2  XP_511106.2 
cow
(Bos taurus)
FA2H1   -- fatty acid 2-hydroxylase 85.22(n)
80.65(a)
516891  XM_595049.3  XP_595049.2 
rat
(Rattus norvegicus)
Fa2h1   -- fatty acid 2-hydroxylase 84.95(n)
80.65(a)
307855  XM_001073350.1  XP_001073350.1 
mouse
(Mus musculus)
Fa2h1, 5 85
fatty acid 2-hydroxylase1, 5 85.04(n)1
81.18(a)1
3385211  NM_178086.21  NP_835187.11 
 AK0337365  AK0903385  (see all 17)
About this table        Species with no ortholog for FA2H

ENSEMBL Gene Tree for FA2H
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

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


10/393 NCBI SNPs in FA2H are shown (see all 393 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 92)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 16 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs10463711,2
A,C,F,H73304525(-) AAAAAC/GTCGCC 1 -- ut315Minor allele frequency- G:0.20MN EU EA WA 596
--
rs71897311,2
A,C,F,H73304458(+) ATAGCT/GCCGCA 1 -- ut31 ese38Minor allele frequency- G:0.04EU EA WA 834
rs42474971,2
A,C,F,H73304298(+) CTCTAC/TCCCTC 1 -- ng514Minor allele frequency- T:0.31EU EA WA 418
rs358748501,2
C,F73331496(-) ACGAGC/GCTGTA 1 P/A mis15Minor allele frequency- G:0.01NA EU EA WA 496
rs48882791,2
A,H73304190(+) CGCGCC/TCAGCT 1 -- ng514Minor allele frequency- T:0.00EU EA WA 416
--
rs80568651,2
C73366238(+) CCCCGC/GGGCCG 1 -- ng310--------
rs23018651,2
A,C,F,H73307906(+) GCCTCA/GGGCAG 1 P/P syn15Minor allele frequency- G:0.25EU EA WA NA 486
rs9298811,2
A,C,F,H73365926(+) CTCCAG/ACCAGC 1 L/L syn1 ese35Minor allele frequency- A:0.35MN EU EA WA 590
rs115546201,2
C,F73307852(-) CTCTAT/CGACAT 1 Y/Y syn1 ese31Minor allele frequency- C:0.06NA 72
rs115546211,2
C,F73307897(-) GCAGTA/GGGGGG 1 V/V syn11Minor allele frequency- G:0.12NA 76
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HapMap Linkage Disequilibrium images for FA2H (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

OMIM: 611026   disorders: 612443  

UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8

  • Defects in FA2H are the cause of leukodystrophy dysmyelinating with spastic paraparesis
    with or without dystonia (DLDSP) [MIM:612443]. The disorder consists of a progressive neurologic
    disease manifested by spasticity, disordered tonicity of muscle, and white matter degeneration
  • Human Gene Mutation Database: FA2H

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10 PubMed articles for FA2H gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    NameDescription
    ATLAS Chromosomes in Cancer entry for FA2H Genetics and Cytogenetics in Oncology and Haematology
    (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)
    About This Section



    Products for FA2H:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for FA2H Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for FA2H Browse small molecules at Sigma-Aldrich
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     Antibodies for FA2H

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