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Fa2h fatty acid 2-hydroxylase [ Mus musculus (house mouse) ]

Gene ID: 338521, updated on 10-Feb-2024

Summary

Official Symbol
Fa2hprovided by MGI
Official Full Name
fatty acid 2-hydroxylaseprovided by MGI
Primary source
MGI:MGI:2443327
See related
Ensembl:ENSMUSG00000033579 AllianceGenome:MGI:2443327
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
FAAH; Faxdc1; G630055L08Rik
Summary
Enables fatty acid alpha-hydroxylase activity. Involved in galactosylceramide biosynthetic process; glucosylceramide biosynthetic process; and plasma membrane raft organization. Acts upstream of or within several processes, including lipid modification; myelin maintenance; and sebaceous gland cell differentiation. Located in endoplasmic reticulum. Is expressed in back skin; sebaceous gland; skin; and vibrissa. Used to study hereditary spastic paraplegia 35. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 35. Orthologous to human FA2H (fatty acid 2-hydroxylase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach adult (RPKM 77.1), colon adult (RPKM 59.1) and 8 other tissues See more
Orthologs
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Genomic context

See Fa2h in Genome Data Viewer
Location:
8 E1; 8 57.98 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (112071770..112120453, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (111345138..111393821, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene ubiquitin-40S ribosomal protein S27a pseudogene Neighboring gene mixed lineage kinase domain-like Neighboring gene STARR-positive B cell enhancer ABC_E6684 Neighboring gene STARR-seq mESC enhancer starr_22695 Neighboring gene predicted gene, 24793 Neighboring gene WD repeat domain 59 Neighboring gene STARR-positive B cell enhancer ABC_E112

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables fatty acid alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables fatty acid alpha-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables fatty acid alpha-hydroxylase activity ISO
Inferred from Sequence Orthology
more info
 
enables heme binding IEA
Inferred from Electronic Annotation
more info
 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within central nervous system myelin maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ceramide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of skin barrier ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in galactosylceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in galactosylceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in galactosylceramide biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
involved_in glucosylceramide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within lipid modification IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within lipid modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within peripheral nervous system myelin maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in plasma membrane raft organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of acinar cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of hair cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of sebum secreting cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sebaceous gland cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IEA
Inferred from Electronic Annotation
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
fatty acid 2-hydroxylase
Names
fatty acid alpha-hydroxylase
fatty acid hydroxylase domain containing 1
NP_835187.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_178086.3NP_835187.2  fatty acid 2-hydroxylase

    See identical proteins and their annotated locations for NP_835187.2

    Status: VALIDATED

    Source sequence(s)
    AK161502, BB076849, CJ152901
    Consensus CDS
    CCDS22674.1
    UniProtKB/Swiss-Prot
    Q2M2M0, Q5MPP0, Q5RL53, Q8BTH1, Q8R0M0, Q8R0V1
    Related
    ENSMUSP00000043597.9, ENSMUST00000038475.9
    Conserved Domains (3) summary
    COG3000
    Location:208365
    ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
    pfam00173
    Location:1185
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    cl01132
    Location:124372
    FA_hydroxylase; Fatty acid hydroxylase superfamily

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    112071770..112120453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)