Version 5.4
Homo sapiens Gene: FA2H
Summary
InnateDB Gene IDBG-42190.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FA2H
Gene Name fatty acid 2-hydroxylase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000103089
Encoded Proteins
IDBP-42192
fatty acid 2-hydroxylase
IDBP-751567
IDBP-752899
IDBP-811710
fatty acid 2-hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 16:74712955-74774831
Strand Reverse strand
Band q23.1
Transcripts
ENST00000219368 ENSP00000219368
ENST00000567683 ENSP00000455126
ENST00000569949 ENSP00000464576
ENST00000562145
ENST00000618933 ENSP00000479548
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0020037 heme binding
GO:0046872 metal ion 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:0008219 cell death
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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000033579
View Gene Order
ENSBTAG00000012222
Not yet available
Cross-References
SwissProt Q7L5A8
TrEMBL B7Z8T6
UniProt Splice Variant
Entrez Gene 79152
UniGene Hs.461329 Hs.604736
RefSeq NM_024306
HUGO HGNC:21197
OMIM 611026
CCDS CCDS10911
HPRD 16873
IMGT
EMBL AC004685 AC009132 AJ278219 AK058016 AK303878 BC002679 BC004263 BC017049 CH471114
GenPept AAC23496 AAH02679 AAH04263 AAH17049 BAB71632 BAH14072 CAC20436 EAW95678
RNA Seq Atlas 79152

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