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FA2H (fatty acid 2-hydroxylase)

Identity

Other namesFAAH
FAH1
FAXDC1
SCS7
SPG35
HGNC (Hugo) FA2H
LocusID (NCBI) 79152
Atlas_Id 40523
Location 16q23.1
Location_base_pair Starts at 74746856 and ends at 74808729 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GLG1 (16q23.1) / FA2H (16q23.1)

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 hg19 (Hinxton)ENSG00000103089 [Gene_View]  chr16:74746856-74808729 [Contig_View]  FA2H [Vega]
Ensembl hg38 (Hinxton)ENSG00000103089 [Gene_View]  chr16:74746856-74808729 [Contig_View]  FA2H [Vega]
ICGC DataPortalENSG00000103089
TCGA cBioPortalFA2H
AceView (NCBI)FA2H
Genatlas (Paris)FA2H
WikiGenes79152
SOURCE (Princeton)FA2H
Genomic and cartography
GoldenPath hg19 (UCSC)FA2H  -     chr16:74746856-74808729 -  16q23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FA2H  -     16q23.1   [Description]    (hg38-Dec_2013)
EnsemblFA2H - 16q23.1 [CytoView hg19]  FA2H - 16q23.1 [CytoView hg38]
Mapping of homologs : NCBIFA2H [Mapview hg19]  FA2H [Mapview hg38]
OMIM611026   612319   
Gene and transcription
Genbank (Entrez)AA857184 AJ278219 AK058016 AK303878 AK315512
RefSeq transcript (Entrez)NM_024306
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_017070 NT_010498 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 [ EBI - ARRAY_EXPRESS ]   FA2H [ SEEK ]   FA2H [ MEM ]
Gene Expression Viewer (FireBrowse)FA2H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)79152
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L5A8 (Uniprot)
NextProtQ7L5A8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L5A8
Splice isoforms : SwissVarQ7L5A8 (Swissvar)
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
PhosPhoSitePlusQ7L5A8
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    Scs7   
Domain families : Pfam (Sanger)Cyt-b5 (PF00173)    FA_hydroxylase (PF04116)   
Domain families : Pfam (NCBI)pfam00173    pfam04116   
DMDM Disease mutations79152
Blocks (Seattle)FA2H
SuperfamilyQ7L5A8
Human Protein AtlasENSG00000103089
Peptide AtlasQ7L5A8
HPRD16873
IPIIPI00304492   IPI01009496   
Protein Interaction databases
DIP (DOE-UCLA)Q7L5A8
IntAct (EBI)Q7L5A8
FunCoupENSG00000103089
BioGRIDFA2H
STRING (EMBL)FA2H
ZODIACFA2H
Ontologies - Pathways
QuickGOQ7L5A8
Ontology : AmiGOsebaceous gland cell differentiation  iron ion binding  endoplasmic reticulum  endoplasmic reticulum membrane  fatty acid metabolic process  fatty acid biosynthetic process  integral component of membrane  heme binding  sphingolipid biosynthetic process  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  fatty acid alpha-hydroxylase activity  
Ontology : EGO-EBIsebaceous gland cell differentiation  iron ion binding  endoplasmic reticulum  endoplasmic reticulum membrane  fatty acid metabolic process  fatty acid biosynthetic process  integral component of membrane  heme binding  sphingolipid biosynthetic process  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  fatty acid alpha-hydroxylase activity  
NDEx Network
Atlas of Cancer Signalling NetworkFA2H
Wikipedia pathwaysFA2H
Orthology - Evolution
OrthoDB79152
GeneTree (enSembl)ENSG00000103089
Phylogenetic Trees/Animal Genes : TreeFamFA2H
Homologs : HomoloGeneFA2H
Homology/Alignments : Family Browser (UCSC)FA2H
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerFA2H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FA2H
dbVarFA2H
ClinVarFA2H
1000_GenomesFA2H 
Exome Variant ServerFA2H
ExAC (Exome Aggregation Consortium)FA2H (select the gene name)
SNP (GeneSNP Utah)FA2H
SNP : HGBaseFA2H
Genetic variants : HAPMAPFA2H
Genomic Variants (DGV)FA2H [DGVbeta]
Mutations
ICGC Data PortalFA2H 
TCGA Data PortalFA2H 
Broad Tumor PortalFA2H
OASIS PortalFA2H [ Somatic mutations - Copy number]
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
BioMutasearch FA2H
DgiDB (Drug Gene Interaction Database)FA2H
DoCM (Curated mutations)FA2H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FA2H (select a term)
intoGenFA2H
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:74746856-74808729
CONAN: Copy Number AnalysisFA2H 
Mutations and Diseases : HGMDFA2H
OMIM611026    612319   
MedgenFA2H
Genetic Testing Registry FA2H
NextProtQ7L5A8 [Medical]
TSGene79152
GENETestsFA2H
Huge Navigator FA2H [HugePedia]  FA2H [HugeCancerGEM]
snp3D : Map Gene to Disease79152
BioCentury BCIQFA2H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79152
Chemical/Pharm GKB GenePA134908954
Clinical trialFA2H
Miscellaneous
canSAR (ICR)FA2H (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFA2H
GoPubMedFA2H
iHOPFA2H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Apr 16 17:44:15 CEST 2016

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