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

Gene ID: 79152, updated on 2-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
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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 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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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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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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