Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



FA2H Gene

protein-coding   GIFtS: 63
GCID: GC16M074746

Fatty Acid 2-Hydroxylase

(Previous names: fatty acid hydroxylase domain containing 1, spastic paraplegia...)
(Previous symbols: FAXDC1, SPG35)
  See FA2H-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Fatty Acid 2-Hydroxylase1 2     Fatty Acid Alpha-Hydroxylase2 3
FAXDC11 2 5     FAH12 5
SPG351 2 5     SCS72 5
FAAH2 3 5     Fatty Acid Hydroxylase1
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for FA2H Gene:
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)

GeneCards Summary for FA2H Gene:
FA2H (fatty acid 2-hydroxylase) is a protein-coding gene. Diseases associated with FA2H include spastic paraparesis, and fatty acid hydroxylase-associated neurodegeneration. GO annotations related to this gene include fatty acid alpha-hydroxylase activity and iron ion binding.

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 Gene:
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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 plasmidFA2H promoter sequence
   Search Chromatin IP Primers for FA2H

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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)
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

Explore proteomics data for FA2H at MOPED


See FA2H Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

FA2H 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 for FA2H
OriGene Protein Over-expression Lysate for FA2H
OriGene MassSpec for 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 Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp.

 
Search eBioscience for Proteins for FA2H 

FA2H Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of FA2H
Browse R&D Systems for Antibodies
OriGene Antibodies for FA2H
OriGene Custom Antibody Services for FA2H
Novus Biologicals FA2H Antibodies
Abcam antibodies for FA2H
Browse Antibodies at Cloud-Clone Corp.
ThermoFisher Antibody for FA2H
LSBio Antibodies in human, mouse, rat for FA2H

FA2H Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for FA2H
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for FA2H
Browse Enzo Life Sciences for kits & assays
Browse ELISAs at Cloud-Clone Corp.
Browse CLIAs at Cloud-Clone Corp.
Search eBioscience for ELISAs for FA2H 


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

TryGeneCards Plus
HGNC Gene Families:
FATHD: Fatty acid hydroxylase domain containing

4 InterPro protein domains:
 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 domain: 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


Find genes that share domains with FA2H           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

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): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005506iron ion binding IEA--
GO:0016491oxidoreductase activity ----
GO:0020037heme binding IEA--
GO:0046872metal ion binding ----
GO:0080132fatty acid alpha-hydroxylase activity IEA--
     
Find genes that share ontologies with FA2H           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for FA2H:
 Synthetic lethal with Ras 

     5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fa2h):
 behavior/neurological  homeostasis/metabolism  nervous system  no phenotypic analysis  vision/eye 

Find genes that share phenotypes with FA2H           About GenesLikeMe

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

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FA2H
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FA2H

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FA2H
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FA2H

miRNA
Products:
    
miRTarBase miRNAs that target FA2H:
hsa-mir-423-5p (MIRT038079)

Block miRNA regulation of human, mouse, rat FA2H using miScript Target Protectors
Selected qRT-PCR 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 plasmidFA2H 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for FA2H
Predesigned siRNA for gene silencing in human, mouse, rat FA2H

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for FA2H

Clone
Products:
     
OriGene clones in human, mouse for FA2H (see all 5)
OriGene ORF clones in 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
Browse ESI BIO Cell Lines and PureStem Progenitors for FA2H 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
FA2H_HUMAN, Q7L5A8: Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass
membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
mitochondrion2
peroxisome2
cytosol1
nucleus1
plasma membrane1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ----
GO:0005789endoplasmic reticulum membrane IEA--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with FA2H           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

SuperPaths for FA2H About    
See pathways by source

SuperPathContained pathways About
1fatty acid alpha-oxidation III
fatty acid alpha-oxidation III0.33


1 BioSystems Pathway for FA2H
    fatty acid alpha-oxidation III


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FA2H
Interactions:

    Search GeneGlobe Interaction Network for FA2H

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

Selected Interacting proteins for FA2H (Q7L5A82, 3 ENSP000002193684) via UniProtKB, MINT, STRING, and/or I2D (see all 297)
InteractantInteraction Details
GeneCardExternal ID(s)
ENSG00000206286Q8N1B43I2D: score=1 
ENSG00000224455Q8N1B43I2D: score=1 
ENSG00000225590Q8N1B43I2D: score=1 
ENSG00000228425Q8N1B43I2D: score=1 
ENSG00000236014Q8N1B43I2D: score=1 
About this table

Gene Ontology (GO): Selected biological process terms (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--

Find genes that share ontologies with FA2H           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for FA2H available from Tocris Bioscience    About this table
CompoundAction CAS #
SA 57Potent FAAH inhibitor[1346169-63-8]
PF 3845Selective FAAH inhibitor[1196109-52-0]
JNJ 1661010 Selective, reversible FAAH inhibitor [681136-29-8]
TC-F 2 Potent, reversible and selective FAAH inhibitor [1304778-15-1]

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 inferred 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)



Find genes that share compounds with FA2H           About GenesLikeMe



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

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:
     
Block miRNA regulation of human, mouse, rat FA2H using miScript Target Protectors
Selected qRT-PCR 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 plasmidFA2H 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for FA2H
Predesigned siRNA for gene silencing in human, mouse, rat FA2H
Clone
Products:
     
OriGene clones in human, mouse for FA2H (see all 5)
OriGene ORF clones in 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 qPCR primer pairs and template standards for FA2H
OriGene qSTAR qPCR primer pairs in human, mouse for FA2H
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FA2H
  QuantiTect SYBR Green Assays in human, mouse, rat FA2H
  QuantiFast Probe-based Assays in human, mouse, rat FA2H

Additional mRNA 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 

Selected AceView cDNA sequences (see all 105):

BU727429 BC017049 BM773475 Z38507 AI985060 BC010453 BQ068248 BC004263 
BM836756 CB121000 BC002679 BM769933 BM769073 AI214976 AJ278219 BQ083979 
BQ082695 BG697085 BF346751 BG697245 BM765129 AL558039 BI913077 BM768765 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

FA2H expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTGAGCTTAT
FA2H Expression
About this image


FA2H expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
         Human embryonic stem cells (family)
 
 Brain (Nervous System)
         Myelinating Oligodendrocyte Cells Forebrain White Matter
 
 Spinal Cord (Nervous System)
FA2H Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FA2H Protein Expression

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

    Custom PCR Arrays for FA2H
Primer
Products:
OriGene qPCR primer pairs and template standards for FA2H
OriGene qSTAR qPCR primer pairs in human, mouse for FA2H
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FA2H
QuantiTect SYBR Green Assays in human, mouse, rat FA2H
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

TryGeneCards Plus

This gene was present in the common ancestor of eukaryotes.

Orthologs for FA2H gene from Selected species (see all 20)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fa2h1 , 5 fatty acid 2-hydroxylase1, 5 85.1(n)1
82.4(a)1
  8 (57.98 cM)5
3385211  NM_178086.31  NP_835187.21 
 1113451355 
chicken
(Gallus gallus)
Aves FA2H1 fatty acid 2-hydroxylase 72.25(n)
69.32(a)
  415687  XM_414053.4  XP_414053.4 
lizard
(Anolis carolinensis)
Reptilia FA2H6
fatty acid 2-hydroxylase
65(a)
1 ↔ 1
GL343840.1(101129-159668)
African clawed frog
(Xenopus laevis)
Amphibia LOC3986692 hypothetical protein LOC398669 74.05(n)    BC054985.1 
zebrafish
(Danio rerio)
Actinopterygii fa2h6
fatty acid 2-hydroxylase
56(a)
1 ↔ 1
25(13991020-14046662) ENSDARG00000090063
fruit fly
(Drosophila melanogaster)
Insecta fa2h1 fatty acid 2-hydroylase 53.35(n)
39.94(a)
  35670  NM_136435.4  NP_610279.3 
worm
(Caenorhabditis elegans)
Secernentea CELE_C25A1.51 CELE_C25A1.5 47.33(n)
45.73(a)
  172882  NM_060277.6  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
SCS71
45.56(n)1
36.97(a)1
  13(810777-809623)4
8553151, 4  NP_013999.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons FAH11 FAH1 51.17(n)
45.18(a)
  818042  NM_129030.2  NP_181023.1 
rice
(Oryza sativa)
Liliopsida Os12g06284001 Os12g0628400 52.7(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

TryGeneCards Plus
Paralogs for FA2H gene
3 SIMAP similar genes for FA2H using alignment to 4 protein entries:     FA2H_HUMAN (see all proteins):
CYB5A    CYB5B    DKFZp686M0619

Find genes that share paralogs with FA2H           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for FA2H (see all 1495)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0652454
Spastic paraplegia 35, autosomal recessive (SPG35)4--see VAR_0652452 R C mis40--------
VAR_0548934
Spastic paraplegia 35, autosomal recessive (SPG35)4--see VAR_0548932 D Y mis40--------
VAR_0646214
Spastic paraplegia 35, autosomal recessive (SPG35)4--see VAR_0646212 R C mis40--------
rs2010311721,2
--60503971(+) CATAT-/ATTCAT 1 -- int10--------
rs796828601,2
C--60519866(+) CAGCC-/TGCCCT 1 -- int10--------
rs2010717791,2
C--60524428(+) CTCAA-/AATAAT
        
AATAA
1 -- int10--------
rs1906112621,2
--60524462(+) TAATAA/GTAATA 1 -- int10--------
rs356468781,2
C--60528248(+) ATGCCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
rs748563541,2
C--60540703(+) AACAA-/ACACACA 1 -- int10--------
rs352384721,2
C--60544410(+) CCCCC-/AAGGAA 1 -- int10--------

HapMap Linkage Disequilibrium report for FA2H (74746853 - 74808729 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for FA2H:    About this table    
Variant IDTypeSubtypePubMed ID
esv2714701CNV Deletion23290073
esv2662423CNV Deletion23128226
nsv906907CNV Loss21882294
nsv517513CNV Loss19592680
nsv457520CNV Gain19166990
nsv906906CNV Gain21882294

Human Gene Mutation Database (HGMD): FA2H
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers 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

TryGeneCards Plus
OMIM gene information: 611026   
OMIM disorders: 612319  
UniProtKB/Swiss-Prot: FA2H_HUMAN, Q7L5A8
  • Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait
    difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients
    manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia,
    optic atrophy, and seizures may also occur. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for FA2H:    
    About MalaCards
    spastic paraparesis    fatty acid hydroxylase-associated neurodegeneration    spastic paraplegia 35    alcohol-related neurodevelopmental disorder
    leukodystrophy    schnitzler syndrome    aceruloplasminemia

    5 diseases from the University of Copenhagen DISEASES database for FA2H:
    Paraplegia     Hallervorden-Spatz syndrome     Leukodystrophy     alcohol-related neurodevelopmental disorder
    Aceruloplasminemia

    Find genes that share disorders with FA2H           About GenesLikeMe

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): FA2H
    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

    TryGeneCards Plus

    PubMed articles for FA2H gene, integrated from 10 sources (see all 29):
    (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 hereditary spastic paraplegia (SPG35). (PubMed id 20104589)1, 2, 3, 9 Dick K.J.... Crosby A.H. (Hum. Mutat. 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. (J. Biol. Chem. 2007)
    3. The human FA2H gene encodes a fatty acid 2-hydroxylase. (PubMed id 15337768)1, 2, 9 Alderson N.L....Hama H. (J. Biol. Chem. 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. (Am. J. Hum. Genet. 2008)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    7. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    8. A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review. (PubMed id 23566484)1 Cao L....Chen S.D. (J. Neurol. Sci. 2013)
    9. Heterozygous FA2H mutations in autism spectrum disorders. (PubMed id 24299421)1 Scheid I....Delorme R. (BMC Med. Genet. 2013)
    10. Induction of the fatty acid 2-hydroxylase (FA2H) gene by I9(9)-tetrahydrocannabinol in human breast cancer cells. (PubMed id 23535410)1 Takeda S....Aramaki H. (J Toxicol Sci 2013)

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

    TryGeneCards Plus
     ANDOR
    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

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

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for FA2H Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FA2H Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of FA2H
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for FA2H   OriGene RNAi products in human, mouse, rat for FA2H  
     OriGene qPCR primer pairs and template standards for FA2H   OriGene Protein Over-expression Lysate for FA2H  
     OriGene MassSpec something-or-other for FA2H   OriGene clones in human, mouse for FA2H  
     OriGene qSTAR qPCR primer pairs in human, mouse for FA2H   OriGene Purified Protein for FA2H  
     OriGene ORF clones in mouse, rat 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  

     
     
     Block miRNA regulation of human, mouse, rat FA2H using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FA2H
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FA2H Predesigned siRNA for gene silencing in human, mouse, rat FA2H
     QuantiFast Probe-based Assays in human, mouse, rat FA2H QuantiTect SYBR Green Assays in human, mouse, rat FA2H
     Custom PCR Arrays for FA2H Search Chromatin IP Primers for FA2H
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FA2H  Search GeneGlobe Interaction Network for FA2H
     Regulatory tfbs in FA2H promoter
     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 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

     Tocris compounds for FA2H
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     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
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors 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: Let us create your new Knockout/Knockin mouse model for FA2H
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FA2H
     LSBio Antibodies in human, mouse, rat for FA2H
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for FA2H
      Search eBioscience for proteins for FA2H
      Search eBioscience for elisas for FA2H
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    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.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4