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FA2H (fatty acid 2-hydroxylase)

Identity

Other namesFAAH
FAH1
FAXDC1
SCS7
SPG35
HGNC (Hugo) FA2H
LocusID (NCBI) 79152
Location 16q23.1
Location_base_pair Starts at 74746856 and ends at 74808729 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)FA2H   21197
Cards
Entrez_Gene (NCBI)FA2H  79152  fatty acid 2-hydroxylase
GeneCards (Weizmann)FA2H
Ensembl (Hinxton)ENSG00000103089 [Gene_View]  chr16:74746856-74808729 [Contig_View]  FA2H [Vega]
ICGC DataPortalENSG00000103089
AceView (NCBI)FA2H
Genatlas (Paris)FA2H
WikiGenes79152
SOURCE (Princeton)NM_024306
Genomic and cartography
GoldenPath (UCSC)FA2H  -  16q23.1   chr16:74746856-74808729 -  16q23.1   [Description]    (hg19-Feb_2009)
EnsemblFA2H - 16q23.1 [CytoView]
Mapping of homologs : NCBIFA2H [Mapview]
OMIM611026   612319   
Gene and transcription
Genbank (Entrez)AA857184 AJ278219 AK058016 AK303878 AK315512
RefSeq transcript (Entrez)NM_024306
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_017070 NT_010498 NW_001838327 NW_004929402
Consensus coding sequences : CCDS (NCBI)FA2H
Cluster EST : UnigeneHs.461329 [ NCBI ]
CGAP (NCI)Hs.461329
Alternative Splicing : Fast-db (Paris)GSHG0011985
Alternative Splicing GalleryENSG00000103089
Gene ExpressionFA2H [ NCBI-GEO ]     FA2H [ SEEK ]   FA2H [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L5A8 (Uniprot)
NextProtQ7L5A8  [Medical]
With graphics : InterProQ7L5A8
Splice isoforms : SwissVarQ7L5A8 (Swissvar)
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CYTOCHROME_B5_1 (PS00191)    CYTOCHROME_B5_2 (PS50255)   
Domains : Interpro (EBI)Cyt_B5-like_heme/steroid-bd    Cyt_B5_heme-BS    Fatty_acid_hydroxylase    Ino-phos-ceramide-B_Hydrxlase   
Related proteins : CluSTrQ7L5A8
Domain families : Pfam (Sanger)Cyt-b5 (PF00173)    FA_hydroxylase (PF04116)   
Domain families : Pfam (NCBI)pfam00173    pfam04116   
DMDM Disease mutations79152
Blocks (Seattle)Q7L5A8
Human Protein AtlasENSG00000103089
Peptide AtlasQ7L5A8
HPRD16873
IPIIPI00304492   IPI01009496   
Protein Interaction databases
DIP (DOE-UCLA)Q7L5A8
IntAct (EBI)Q7L5A8
FunCoupENSG00000103089
BioGRIDFA2H
InParanoidQ7L5A8
Interologous Interaction database Q7L5A8
IntegromeDBFA2H
STRING (EMBL)FA2H
Ontologies - Pathways
Ontology : AmiGOsebaceous gland cell differentiation  iron ion binding  endoplasmic reticulum membrane  fatty acid biosynthetic process  sphingolipid metabolic process  cell death  integral component of membrane  heme binding  lipid modification  central nervous system myelin maintenance  peripheral nervous system myelin maintenance  regulation of cell proliferation  regulation of hair cycle  oxidation-reduction process  fatty acid alpha-hydroxylase activity  
Ontology : EGO-EBIsebaceous gland cell differentiation  iron ion binding  endoplasmic reticulum membrane  fatty acid biosynthetic process  sphingolipid metabolic process  cell death  integral component of membrane  heme binding  lipid modification  central nervous system myelin maintenance  peripheral nervous system myelin maintenance  regulation of cell proliferation  regulation of hair cycle  oxidation-reduction process  fatty acid alpha-hydroxylase activity  
Protein Interaction DatabaseFA2H
Wikipedia pathwaysFA2H
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FA2H
SNP (GeneSNP Utah)FA2H
SNP : HGBaseFA2H
Genetic variants : HAPMAPFA2H
1000_GenomesFA2H 
ICGC programENSG00000103089 
CONAN: Copy Number AnalysisFA2H 
Somatic Mutations in Cancer : COSMICFA2H 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Mutations and Diseases : HGMDFA2H
OMIM611026    612319   
MedgenFA2H
GENETestsFA2H
Disease Genetic AssociationFA2H
Huge Navigator FA2H [HugePedia]  FA2H [HugeCancerGEM]
Genomic VariantsFA2H  FA2H [DGVbeta]
Exome VariantFA2H
dbVarFA2H
ClinVarFA2H
snp3D : Map Gene to Disease79152
General knowledge
Homologs : HomoloGeneFA2H
Homology/Alignments : Family Browser (UCSC)FA2H
Phylogenetic Trees/Animal Genes : TreeFamFA2H
Chemical/Protein Interactions : CTD79152
Chemical/Pharm GKB GenePA134908954
Clinical trialFA2H
Cancer Resource (Charite)ENSG00000103089
Other databases
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
CoreMineFA2H
iHOPFA2H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 12:45:30 CEST 2014

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