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Fa2h
Gene Detail
Symbol

Name
ID
Fa2h
fatty acid 2-hydroxylase
MGI:2443327
Synonyms
Faxdc1, G630055L08Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 8
57.98 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr8:111345135-111393824 bp, - strand
From VEGA annotation of GRCm38

  48690 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56284  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: inositolphosphorylceramide-B hydroxylase
Gene Tree: Fa2h

Human
homologs
Human Homolog FA2H, fatty acid 2-hydroxylase
NCBI Gene ID 79152
neXtProt AC  NX_Q7L5A8
Human Synonyms  FAAH, FAH1, FAXDC1, SCS7, SPG35
Human Chr (Location)  16q23; chr16:74712955-74774831 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human FA2H
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruption of this marker experience late onset axon and myelin degeneration.
 
Human Diseases Modeled Using Mouse Fa2h (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Fa2h interacts with 236 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (1 records)
cDNA source data(33)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(33) cDNA(33)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000027478 (Evidence)
Ensembl Gene ModelENSMUSG00000033579 (Evidence)
Entrez Gene338521 (Evidence)
UniGene41083
DFCITC1580906, TC1616840, TC1620257
DoTSDT.101717793, DT.110860606, DT.482229, DT.91290696
NIA Mouse Gene IndexU030263
EC1.-.-.-
Consensus CDS ProjectCCDS22674.1
International Mouse Knockout Project StatusFa2h
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027478 VEGA Gene Model | MGI Sequence Detail 48690 C57BL/6J ±  kb
transcript OTTMUST00000068006 VEGA | MGI Sequence Detail 2492 Not Applicable 
polypeptide OTTMUSP00000034302 VEGA | MGI Sequence Detail 372 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(133 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018506 Cytochrome b5, heme-binding site
InterPro IPR001199 Cytochrome b5-like heme/steroid binding domain
InterPro IPR006694 Fatty acid hydroxylase
InterPro IPR014430 Inositolphosphorylceramide-B hydroxylase
Protein Ontology PR:000007304 fatty acid 2-hydroxylase
References
(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:175386 Maier H, et al., Normal fur development and sebum production depends on fatty acid 2-hydroxylase expression in sebaceous glands. J Biol Chem. 2011 Jul 22;286(29):25922-34
All references(34)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory