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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
Entrez_Gene (NCBI)FA2H  79152  fatty acid 2-hydroxylase
Cards
GeneCards (Weizmann)FA2H
Ensembl (Hinxton)ENSG00000103089 [Gene_View]  chr16:74746856-74808729 [Contig_View]  FA2H [Vega]
AceView (NCBI)FA2H
Genatlas (Paris)FA2H
SOURCE (Stanford)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   612443   
Gene and transcription
Genbank (Entrez)AA857184 AJ278219 AK058016 AK303878 AK315512
RefSeq transcript (SRS)NM_024306
RefSeq transcript (Entrez)NM_024306
RefSeq genomic (SRS)AC_000148 NC_000016 NC_018927 NG_017070 NT_010498 NW_001838327 NW_004078087
RefSeq genomic (Entrez)AC_000148 NC_000016 NC_018927 NG_017070 NT_010498 NW_001838327 NW_004078087
Consensus coding sequences : CCDS (NCBI)FA2H
Cluster EST : UnigeneHs.461329 [ SRS ] Hs.461329 [ NCBI ]
CGAP (NCI)Hs.461329
Alternative Splicing : Fast-db (Paris)GSHG0011985
Alternative Splicing GalleryENSG00000103089
Gene ExpressionFA2H [ NCBI-GEO ]   FA2H [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L5A8 (SRS) Q7L5A8 (Uniprot)
NextProtQ7L5A8
With graphics : InterProQ7L5A8
Splice isoforms : SwissVarQ7L5A8(Swissvar)
Domaine pattern : Prosite (SRS)CYTOCHROME_B5_1 (PS00191)    CYTOCHROME_B5_2 (PS50255)   
Domaine pattern : Prosite (Expaxy)CYTOCHROME_B5_1 (PS00191)    CYTOCHROME_B5_2 (PS50255)   
Domains : Interpro (SRS)Cyt_B5    Cyt_B5_heme-BS    Fatty_acid_hydroxylase    Ino-phos-ceramide-B_Hydrxlase   
Domains : Interpro (EBI)Cyt_B5    Cyt_B5_heme-BS    Fatty_acid_hydroxylase    Ino-phos-ceramide-B_Hydrxlase   
Related proteins : CluSTrQ7L5A8
Domain families : Pfam (SRS)Cyt-b5 (PF00173)    FA_hydroxylase (PF04116)   
Domain families : Pfam (Sanger)Cyt-b5 (PF00173)    FA_hydroxylase (PF04116)   
Domain families : Pfam (NCBI)pfam00173    pfam04116   
DMDM79152
Blocks (Seattle)Q7L5A8
Human Protein AtlasENSG00000103089
HPRD16873
IPIIPI00304492   IPI01009496   
Protein Interaction databases
DIP (DOE-UCLA)Q7L5A8
IntAct (EBI)Q7L5A8
FunCoupENSG00000103089
REACTOMEFA2H
Protein Interaction Database79152
BioGRIDFA2H
InParanoidQ7L5A8
Interologous Interaction database Q7L5A8
IntegromeDBFA2H
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)FA2H
SNP (GeneSNP Utah)FA2H
SNP : HGBaseFA2H
Genetic variants : HAPMAPFA2H
Somatic Mutations in Cancer : COSMICFA2H 
CONAN: Copy Number AnalysisFA2H 
Mutations and Diseases : HGMDFA2H
OMIM611026    612319    612443   
GENETests611026    612319    612443   
Disease Genetic AssociationFA2H
Huge Navigator FA2H [HugePedia]  FA2H [HugeCancerGEM]
Genomic VariantsFA2H  FA2H [DGVbeta]
snp3D : Map Gene to Disease79152
General knowledge
Homologs : HomoloGeneFA2H
Homology/Alignments : Family Browser (UCSC)FA2H
Phylogenetic Trees/Animal Genes : TreeFamFA2H
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.- [ Enzyme-SRS ]   1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
Chemical/Protein Interactions : CTD79152
Chemical/Pharm GKB GenePA134908954
Clinical trialFA2H
Cancer Resource (Charite)ENSG00000103089
Ontology : AmiGOsebaceous gland cell differentiation  iron ion binding  endoplasmic reticulum membrane  fatty acid biosynthetic process  sphingolipid metabolic process  cell death  integral to membrane  heme binding  electron transport chain  lipid modification  central nervous system myelin maintenance  peripheral nervous system myelin maintenance  regulation of cell proliferation  regulation of hair cycle  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 to membrane  heme binding  electron transport chain  lipid modification  central nervous system myelin maintenance  peripheral nervous system myelin maintenance  regulation of cell proliferation  regulation of hair cycle  fatty acid alpha-hydroxylase activity  
Other databases
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
PubGeneFA2H
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:40:48 CEST 2013
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