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

    Gene ID: 79152, updated on 21-Feb-2024

    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; AllianceGenome:HGNC:21197
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FA2H in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (74712969..74774820, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (80759709..80821550, complement)
    105.20220307 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 ReSE screen-validated silencer GRCh37_chr16:74715965-74716163 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:74728193-74728362 Neighboring gene thymopoietin pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11108 Neighboring gene mixed lineage kinase domain like pseudokinase Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_44395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:74763414-74763939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:74763940-74764464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:74767393-74767952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74771195-74771902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74781673-74782338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74782339-74783002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:74786737-74787236 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:74793901-74795100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7700 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7703 Neighboring gene uncharacterized LOC105371343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11111 Neighboring gene Sharpr-MPRA regulatory region 8667 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:74905369-74905917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:74908123-74908848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:74909577-74910302 Neighboring gene WD repeat domain 59 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:74997467-74997687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7704

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Results of a "GWAS Plus:" General Cognitive Ability Is Substantially Heritable and Massively Polygenic.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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 fatty acid alpha-hydroxylase activity TAS
    Traceable Author Statement
    more info
     
    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
     
    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 acinar cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of hair cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of sebum secreting cell proliferation 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
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    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)
    NP_077282.3
    XP_011521619.1
    XP_011521621.1
    XP_054169881.1
    XP_054169882.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B7Z8T6, O75213, Q7L5A8, Q96DK1, Q9H1A5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      74712969..74774820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523319.3XP_011521621.1  fatty acid 2-hydroxylase isoform X2

      UniProtKB/TrEMBL
      B2RDE6
      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_011523317.4XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      80759709..80821550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313907.1XP_054169882.1  fatty acid 2-hydroxylase isoform X2

      UniProtKB/TrEMBL
      B2RDE6
    2. XM_054313906.1XP_054169881.1  fatty acid 2-hydroxylase isoform X1