Version 5.4
Mus musculus Gene: Fa2h
Summary
InnateDB Gene IDBG-193182.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Fa2h
Gene Name fatty acid 2-hydroxylase
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000033579
Encoded Proteins
IDBP-193184
fatty acid 2-hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000103089:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:111345135-111393824
Strand Reverse strand
Band E1
Transcripts
ENSMUST00000038475 ENSMUSP00000043597
ENSMUST00000159336
ENSMUST00000162216
ENSMUST00000162463
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0020037 heme binding
GO:0080132 fatty acid alpha-hydroxylase activity
Biological Process
GO:0001949 sebaceous gland cell differentiation
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0006665 sphingolipid metabolic process
GO:0030258 lipid modification
GO:0032286 central nervous system myelin maintenance
GO:0032287 peripheral nervous system myelin maintenance
GO:0042127 regulation of cell proliferation
GO:0042634 regulation of hair cycle
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000103089
View Gene Order
ENSBTAG00000012222
Not yet available
Cross-References
SwissProt Q5MPP0
TrEMBL
UniProt Splice Variant
Entrez Gene 338521
UniGene Mm.398639 Mm.41083
RefSeq NM_178086
OMIM
CCDS CCDS22674
HPRD
IMGT
MGI ID MGI:2443327
MGI Symbol Fa2h
EMBL AK090338 AK161502 AY660882 BC026400 BC026629 BC046985 BC111912 BC128080 BC128081
GenPept AAH26400 AAH26629 AAH46985 AAI11913 AAI28081 AAI28082 AAV70494 BAC41174 BAE36428
RNA Seq Atlas 338521

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca