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FA2H fatty acid 2-hydroxylase [ Homo sapiens (human) ]

Gene ID: 79152, updated on 9-May-2021

Summary

Official Symbol
FA2Hprovided by HGNC
Official Full Name
fatty acid 2-hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:21197
See related
Ensembl:ENSG00000103089 MIM:611026
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAAH; FAH1; SCS7; SPG35; FAXDC1
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]
Expression
Biased expression in stomach (RPKM 14.4), brain (RPKM 8.1) and 10 other tissues See more
Orthologs
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Genomic context

See FA2H in Genome Data Viewer
Location:
16q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (74712955..74774831, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (74746867..74808718, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene thymopoietin pseudogene 2 Neighboring gene mixed lineage kinase domain like pseudokinase Neighboring gene uncharacterized LOC105371343 Neighboring gene WD repeat domain 59

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.
GeneReviews: Not available
Spastic paraplegia 35 Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25287

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fatty acid alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables fatty acid alpha-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables fatty acid alpha-hydroxylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables heme binding IEA
Inferred from Electronic Annotation
more info
 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in central nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in establishment of skin barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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
PubMed 
involved_in galactosylceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in galactosylceramide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucosylceramide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid modification IEA
Inferred from Electronic Annotation
more info
 
involved_in peripheral nervous system myelin maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in plasma membrane raft organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of hair cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in sebaceous gland cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in sphingolipid biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
fatty acid 2-hydroxylase
Names
fatty acid alpha-hydroxylase
fatty acid hydroxylase domain containing 1
fatty acid hydroxylase domain-containing protein 1
spastic paraplegia 35 (autosomal recessive)

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.

Genomic

  1. NG_017070.1 RefSeqGene

    Range
    5012..66863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024306.5NP_077282.3  fatty acid 2-hydroxylase

    See identical proteins and their annotated locations for NP_077282.3

    Status: REVIEWED

    Source sequence(s)
    BC017049, DA890369
    Consensus CDS
    CCDS10911.1
    UniProtKB/Swiss-Prot
    Q7L5A8
    Related
    ENSP00000219368.3, ENST00000219368.8
    Conserved Domains (3) summary
    COG3000
    Location:210367
    ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
    pfam00173
    Location:1585
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    cl01132
    Location:124366
    FA_hydroxylase; Fatty acid hydroxylase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    74712955..74774831 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523319.2XP_011521621.1  fatty acid 2-hydroxylase isoform X2

    Conserved Domains (2) summary
    COG3000
    Location:130287
    ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
    cl01132
    Location:44286
    FA_hydroxylase; Fatty acid hydroxylase superfamily
  2. XM_011523317.3XP_011521619.1  fatty acid 2-hydroxylase isoform X1

    Conserved Domains (2) summary
    pfam00173
    Location:1585
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    cl01132
    Location:124263
    FA_hydroxylase; Fatty acid hydroxylase superfamily
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