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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FA2H Gene

protein-coding   GIFtS: 61
GCID: GC16M074746

Fatty Acid 2-Hydroxylase

(Previous names: fatty acid hydroxylase domain containing 1, spastic paraplegia...)
(Previous symbols: FAXDC1, SPG35)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(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

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  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 plasmidFA2H promoter sequence
   Search SABiosciences Chromatin IP Primers for FA2H

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


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

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

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

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

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FA2H at MOPED 

FA2H Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

FA2H Protein Expression

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

Human Recombinant Protein Products for FA2H: 
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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. 

Gene Ontology (GO): 3 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:0016021integral to membrane IEA--

FA2H for ontologies           About GeneDecksing



FA2H Antibody Products: 
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LSBio Antibodies in human, mouse, rat for FA2H 

Assay Products for FA2H: 
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Browse CLIAs at Cloud-Clone Corp.


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


FA2H for domains           About GeneDecksing


(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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: FA2H_HUMAN, Q7L5A8
Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated
sphingolipids
Induction: Up-regulated during keratinocyte differentiation

     Enzyme Number (IUBMB): EC 1.-.-.-1

     Gene Ontology (GO): 5 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:0046872metal ion binding ----
GO:0080132fatty acid alpha-hydroxylase activity IEA--
     
FA2H for ontologies           About GeneDecksing


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

     4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fa2h):
 behavior/neurological  homeostasis/metabolism  nervous system  vision/eye 

FA2H for phenotypes           About GeneDecksing

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

   inGenious Targeting Laboratory - Custom generated mouse model solutions for FA2H 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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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 plasmidFA2H 3' UTR sequence
Inhib. RNA
Products:
    
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Gene Editing
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Clone
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OriGene ORF clones in mouse, rat for FA2H
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GenScript: all cDNA clones in your preferred vector: FA2H (NM_024306)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FA2H
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                     Customized lentivirus expression plasmids for stable overexpression of FA2H 

Cell Line
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GenScript Custom overexpressing Cell Line Services for FA2H
Search LifeMap BioReagents cell lines for FA2H
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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)

5/202 Interacting proteins for FA2H (Q7L5A82, 3 ENSP000002193684) via UniProtKB, MINT, STRING, and/or I2D (see all 202)
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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 #
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)

Search CenterWatch for drugs/clinical trials and news about FA2H

(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,
Conferences by KenesGroup, 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, Sirion Biotech, 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
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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 plasmidFA2H 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for FA2H
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FA2H
Clone
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OriGene ORF clones in mouse, rat for FA2H
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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
Sirion Biotech Customized lentivirus for stable overexpression of FA2H 
                     Customized lentivirus expression plasmids for stable overexpression of FA2H 
Primer
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OriGene qPCR primer pairs and template standards for FA2H
OriGene qSTAR qPCR primer pairs in human, mouse for FA2H
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FA2H
  QIAGEN 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 

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

BU727429 BC004263 BM769933 CB121000 BQ083979 BM773475 Z38507 BQ082695 
AI985060 AI214976 BC010453 BM769073 BQ068248 AJ278219 BM836756 BC017049 
BC002679 BG697245 AI985072 AW004924 AW192986 BM768765 BI546483 BX486641 

GeneLoc Exon Structure

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

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


ECgene alternative splicing isoforms for FA2H

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FA2H expression in normal human tissues (normalized intensities)      FA2H embryonic expression: see
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 
 5/4 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 2 entries
         Myelinating Oligodendrocyte Cells Forebrain White Matter
         Olfactory Bulb   
 
 Gut Tube (Gastrointestinal Tract)
         Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
 
 Inner Cell Mass (Early Embryonic Tissues)
         Line H9 (WA09)
 
 Spinal Cord (Nervous System)

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
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FA2H

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for FA2H gene from 10/21 species (see all 21)    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
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
55(a)
1 ↔ 1
25(13991020-14046662)
fruit fly
(Drosophila melanogaster)
Insecta CG305021 CG30502 52.53(n)
38.61(a)
  35670  NM_136435.3  NP_610279.3 
worm
(Caenorhabditis elegans)
Secernentea CELE_C25A1.51 Protein C25A1.5 47.55(n)
45.73(a)
  172882  NM_060277.5  NP_492678.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCS7(YMR272C)4
SCS71
Sphingolipid alpha-hydroxylase, functions in the alpha-hydroxylation more4
Scs7p1
45.37(n)1
37.01(a)1
  13(810777-809623)4
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 according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for FA2H gene
3 SIMAP similar genes for FA2H using alignment to 4 protein entries:     FA2H_HUMAN (see all proteins):
CYB5A    CYB5B    DKFZp686M0619

FA2H for paralogs           About GeneDecksing



(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) 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

10/1495 SNPs in FA2H are shown (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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 611026   
OMIM disorders: 612443  
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

  • 15 diseases for FA2H:    About MalaCards
    spastic paraparesis    fatty acid hydroxylase-associated neurodegeneration    spastic paraplegia 35    leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia
    leukodystrophy    alcohol-related neurodevelopmental disorder    hallervorden-spatz syndrome    aceruloplasminemia
    spasticity    paraplegia    hereditary spastic paraplegia    was-related disorders
    alcoholism    hepatitis    prostatitis

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

    FA2H for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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

    PubMed articles for FA2H gene, integrated from 9 sources (see all 27):
    (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. 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, 4 Dastani Z....Genest J. (2010)
    7. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (2009)
    8. Induction of the fatty acid 2-hydroxylase (FA2H) gene by D(9)-tetrahydrocannabinol in human breast cancer cells. (PubMed id 23535410)1 Takeda S....Aramaki H. (2013)
    9. Atypical adult onset complicated spastic paraparesis w ith thin corpus callosum in two patients carrying a novel FA2H mutation. (PubMed id 22925154)1 Tonelli A....Bassi M.T. (2012)
    10. 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)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79152 HGNC: 21197 AceView: FA2H Ensembl:ENSG00000103089 euGenes: HUgn79152
    ECgene: FA2H H-InvDB: FA2H

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    Patent Information for FA2H gene:
    Search GeneIP for patents involving FA2H

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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    About This Section

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