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

    Gene ID: 79152, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See FA2H in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (74712969..74774820, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (80759709..80821550, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families. Hashemi N, et al. Neurol Sci, 2023 Dec. PMID 37410270
    2. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Dick KJ, et al. Neurology, 2008 Jul 22. PMID 18463364
    3. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Edvardson S, et al. Am J Hum Genet, 2008 Nov. PMID 19068277, Free PMC Article
    4. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Dick KJ, et al. Hum Mutat, 2010 Apr. PMID 20104589
    5. FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. Garone C, et al. Dev Med Child Neurol, 2011 Oct. PMID 21592092

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
      Title: A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
    2. The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
      Title: The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
    3. Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
      Title: Fatty Acid 2-Hydroxylase and 2-Hydroxylated Sphingolipids: Metabolism and Function in Health and Diseases.
    4. Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
      Title: Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
    5. Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
      Title: Overexpression of Fatty Acid 2-Hydroxylase is Associated with an Increased Sensitivity to Cisplatin by Ovarian Cancer and Better Prognoses.
    6. 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
      Title: 2-Hydroxylation of Fatty Acids Represses Colorectal Tumorigenesis and Metastasis via the YAP Transcriptional Axis.
    7. Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
      Title: Fatty acid 2-hydroxylase (FA2H) as a stimulatory molecule responsible for breast cancer cell migration.
    8. High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma
      Title: High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
    9. Hereditary spastic paraplegia type 35 caused by the FA2H mutation in a family from Mali has been described.
      Title: Hereditary spastic paraplegia type 35 in a family from Mali.
    10. Study reports the clinical, neuroimaging, biochemical, and molecular findings in three novel unrelated patients with new mutations in FA2H, comparing their features with those previously reported in autosomal recessive spastic paraplegia 35 (SPG35).
      Title: Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25287

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fatty acid 2-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty acid 2-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fatty acid 2-hydroxylase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables fatty acid 2-hydroxylase activity TAS
    Traceable Author Statement
    more info
    		  
    enables free fatty acid 2-hydroxylase activity IDA
    Inferred from Direct Assay
    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
    		  
    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

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    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)

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    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_024306.5 → NP_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:210 → 367
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
      pfam00173
      Location:15 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      cl01132
      Location:124 → 366
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011523319.3 → XP_011521621.1  fatty acid 2-hydroxylase isoform X2

      UniProtKB/TrEMBL
      B2RDE6
      Conserved Domains (2) summary
      COG3000
      Location:130 → 287
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
      cl01132
      Location:44 → 286
      FA_hydroxylase; Fatty acid hydroxylase superfamily

    2. XM_011523317.4 → XP_011521619.1  fatty acid 2-hydroxylase isoform X1

      Conserved Domains (2) summary
      pfam00173
      Location:15 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      cl01132
      Location:124 → 263
      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_054313907.1 → XP_054169882.1  fatty acid 2-hydroxylase isoform X2

    2. XM_054313906.1 → XP_054169881.1  fatty acid 2-hydroxylase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L5A8.1 GenPept UniProtKB/Swiss-Prot:Q7L5A8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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