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Aliases & Descriptions for FA2H
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for FA2H genePrevious GC identifer: GC16M074526 |
Summaries for FA2H(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q7L5A8Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids |
Genomic Location for FA2H
(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: 16q23FA2H 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
| Proteins for FA2H
(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)
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 Q9H1A5REFSEQ proteins: NP_077282.3
ENSEMBL proteins: ENSP00000219368
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for FA2H: Assays for FA2H: | Protein
Domains/ Families for FA2H(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q7L5A8Domain: The histidine box domains may contain the active site and/or be involved in metal ion bindingSimilarity: Belongs to the SCS7 familySimilarity: Contains 1 cytochrome b5 heme-binding domain | Gene Function for FA2H
(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.)
About This Section
|               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 
              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, Q7L5A8Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipidsInduction: Up-regulated during keratinocyte differentiationEnzyme Number (IUBMB): EC 1.-.-.- 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Fa2h):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for FA2H
(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 ID | Qualified GO term | Evidence | PubMed 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
|
Drugs & Compounds for FA2H(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 Tocris compounds for FA2H
|
Transcripts 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
|               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
|
Expression for FA2H
(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
)
About This Section
| 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 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, Q7L5A8Tissue 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 for FA2H
(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
)
About this table Species with no ortholog for FA2H
ENSEMBL Gene Tree for FA2H | Paralogs for FA2H(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for FA2H(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FA2H (up to first 250kb)
|
Disorders & Mutations for FA2H
(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 degenerationHuman Gene Mutation Database: FA2H
|
Medical News for FA2H(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FA2H (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:- Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation. (PubMed id 17355976)1, 3, 4 Uchida Y.... Holleran W.M. (2007)
- The human FA2H gene encodes a fatty acid 2-hydroxylase. (PubMed id 15337768)1, 3, 4 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, 3, 4 Edvardson S....Elpeleg O. (2008)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)2, 3 Strausberg R.L....Marra M.A. (2002)
- A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)3 Lim J....Zoghbi H.Y. (2006)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)4 Ota T....Sugano S. (2004)
- Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)4 Loftus B.J....Adams M.D. (1999)
- Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T Schwannoma cells. (PubMed id 19171550)1 Alderson N.L. and Hama H. (2009)
- FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain. (PubMed id 16998236)1 Alderson N.L....Hama H. (2006)
|
Search for FA2H
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FA2H
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FA2H
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FA2H(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
|
| About This Section
| --
| Services for FA2H(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:

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