Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
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 
Biological research products
for FA2H    

Aliases
for FA2H gene

(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


Summaries
for FA2H gene

(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


Genomic Views
for FA2H 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_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

Proteins
for FA2H 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: 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 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_077282.3  
ENSEMBL proteins: 
 ENSP00000219368   ENSP00000455126   ENSP00000464576   ENSP00000442334  

Human Recombinant Protein Products: 
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 IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ----
GO:0005789endoplasmic reticulum membrane IEA--
GO:0005792microsome ----
GO:0016021integral 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
Search for Antibodies for FA2H at Abcam  
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

Protein Domains /
Families
for FA2H gene

(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


Function
for FA2H gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     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.-.-.-1

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

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for 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

In Situ Assay
Products:   
 		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005506iron ion binding IEA--
GO:0016491oxidoreductase activity ----
GO:0020037heme binding IEA--
GO:0080132fatty acid alpha-hydroxylase activity IEA--


FA2H for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for FA2H:
 Synthetic lethal with Ras 

Animal Models:
     Mouse knock-out Fa2htm1.1Hama for FA2H
     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


Pathways & Interactions
for FA2H 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 FA2H

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

5/194 Interacting proteins for FA2H (Q7L5A82, 3 ENSP000002193684) via UniProtKB, MINT, STRING, and/or I2D (see all 194)
InteractantInteraction Details
GeneCardExternal ID(s)
HIST1H2BCP628073I2D: score=1 
HIST1H2BEP628073I2D: score=1 
HIST1H2BFP628073I2D: score=1 
HIST1H2BGP628073I2D: score=1 
HIST1H2BIP628073I2D: 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 IDQualified GO termEvidencePubMed IDs
GO:0001949sebaceous gland cell differentiation IEA--
GO:0006631fatty acid metabolic process ----
GO:0006633fatty acid biosynthetic process IEA--
GO:0006665sphingolipid metabolic process IEA--
GO:0008219cell death IEA--


FA2H for ontologies           About GeneDecksing



Drugs & Compounds
for FA2H 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

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

2 HMDB Compounds for FA2H    About this table
CompoundSynonyms CAS #PubMed Ids
Heme(protoporphyrinato)iron (see all 19)14875-96-8--
IronArmco 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 

Transcripts
for FA2H 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, 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
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

Expression
for FA2H 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

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

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
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 
NameCategory
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
for FA2H 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 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 Fa2h1 , 5 fatty acid 2-hydroxylase1, 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 of sphingolipid-associated very long chain fatty acids, has both cytochrome b5-like and hydroxylase/desaturase domains, not essential for growth less4
Scs7p1		 45.37(n)1
37.01(a)1		   13(810777-809623)4
8553151, 4  NP_013999.11, 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
for FA2H gene

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

Genomic Variants
for FA2H 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

10/1233 NCBI SNPs in FA2H are shown (see all 1233)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 16 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs285796871,2
C,F,H,--60496309(+) ATCCCT/GCCCCA 1 -- ds500120Minor allele frequency- G:0.28NS EA NA WA CSA 2343
rs780073791,2
C,--60496310(+) TCCCTC/TCCCAT 1 -- ds50013Minor allele frequency- T:0.08WA CSA 121
rs745018831,2
F,--60496587(+) TGCACC/GATCGC 1 -- ds50011Minor allele frequency- G:0.03WA 118
rs71897311,2
C,F,A,H,--60496863(+) ATAGCT/GCCGCA 1 -- ut31 ese316Minor allele frequency- G:0.08NS EA NA WA 1642
rs71841721,2
C,F,--60496865(+) AGCTCC/TGCAGC 1 -- ut31 ese31Minor allele frequency- T:0.07WA 118
rs1155755991,2
C,F,--60497036(+) GGGCCG/ATCTGA 1 -- ut311Minor allele frequency- A:0.04WA 118
rs736146411,2
C,F,--60497590(+) GTGAAA/TGCGAG 1 -- ut314Minor allele frequency- T:0.17WA CSA EA 242
rs802156251,2
C,--60497711(+) GGCCAC/GGGCCT 1 -- ut310--------
rs343934561,2
--60498251(+) GTCTTT/CTATTG 1 -- int14Minor allele frequency- C:0.11NA 304
rs759428201,2
C,F,--60499349(+) CCTCCG/ACCTCC 1 -- int11Minor allele frequency- A:0.09WA 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

Disorders / Diseases
for FA2H gene

(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

    Publications
    for FA2H 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 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

    1. 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)
    2. 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)
    3. The human FA2H gene encodes a fatty acid 2-hydroxylase. (PubMed id 15337768)1, 2, 9 Alderson N.L....Hama H. (2004)
    4. 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)
    5. 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)
    6. 2-Hydroxylated sphingomyelin profiles in cells from p atients with mutated fatty acid 2-hydroxylase. (PubMed id 21599921)1 Dan P....Saada A. (2011)
    7. 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)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. 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)
    10. 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)

    External Searches for FA2H gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FA2H gene

    (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

    Other Databases showing FA2H gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FA2H 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
    NameDescription
    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



    Products
    for FA2H 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, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, 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
    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
     Search for Antibodies for FA2H at Abcam
     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
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 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 

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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      FA2H gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4