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Aliases for FA2H Gene

Aliases for FA2H Gene

  • Fatty Acid 2-Hydroxylase 2 3
  • FAAH 3 4 6
  • Spastic Paraplegia 35 (Autosomal Recessive) 2 3
  • Fatty Acid Hydroxylase Domain Containing 1 2 3
  • Fatty Acid Alpha-Hydroxylase 3 4
  • FAXDC1 3 6
  • SPG35 3 6
  • FAH1 3 6
  • SCS7 3 6
  • Fatty Acid Hydroxylase 2
  • EC 1.-.-.- 4

External Ids for FA2H Gene

Previous HGNC Symbols for FA2H Gene

  • FAXDC1
  • SPG35

Previous GeneCards Identifiers for FA2H Gene

  • GC16M074526
  • GC16M073304
  • GC16M060496

Summaries for FA2H Gene

Entrez Gene Summary for FA2H Gene

  • 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]

GeneCards Summary for FA2H Gene

FA2H (Fatty Acid 2-Hydroxylase) is a Protein Coding gene. Diseases associated with FA2H include spastic paraplegia 35, autosomal recessive and spastic paraplegia 35. Among its related pathways are Glucose / Energy Metabolism and Circadian entrainment. GO annotations related to this gene include iron ion binding and fatty acid alpha-hydroxylase activity.

UniProtKB/Swiss-Prot for FA2H Gene

  • Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.

Gene Wiki entry for FA2H Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FA2H Gene

Genomics for FA2H Gene

Regulatory Elements for FA2H Gene

Genomic Location for FA2H Gene

Start:
74,712,955 bp from pter
End:
74,774,831 bp from pter
Size:
61,877 bases
Orientation:
Minus strand

Genomic View for FA2H Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FA2H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FA2H Gene

Proteins for FA2H Gene

  • Protein details for FA2H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L5A8-FA2H_HUMAN
    Recommended name:
    Fatty acid 2-hydroxylase
    Protein Accession:
    Q7L5A8
    Secondary Accessions:
    • B7Z8T6
    • O75213
    • Q96DK1
    • Q9H1A5

    Protein attributes for FA2H Gene

    Size:
    372 amino acids
    Molecular mass:
    42791 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC23496.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for FA2H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FA2H Gene

Proteomics data for FA2H Gene at MOPED

Post-translational modifications for FA2H Gene

No Post-translational modifications

Other Protein References for FA2H Gene

No data available for DME Specific Peptides for FA2H Gene

Domains for FA2H Gene

Gene Families for FA2H Gene

HGNC:
  • FATHD :Fatty acid hydroxylase domain containing

Protein Domains for FA2H Gene

Suggested Antigen Peptide Sequences for FA2H Gene

Graphical View of Domain Structure for InterPro Entry

Q7L5A8

UniProtKB/Swiss-Prot:

FA2H_HUMAN :
  • Q7L5A8
Domain:
  • The histidine box domains may contain the active site and/or be involved in metal ion binding
  • Contains 1 cytochrome b5 heme-binding domain.
Family:
  • Belongs to the sterol desaturase family. SCS7 subfamily.
genes like me logo Genes that share domains with FA2H: view

Function for FA2H Gene

Molecular function for FA2H Gene

UniProtKB/Swiss-Prot Function: Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids.
UniProtKB/Swiss-Prot Induction: Up-regulated during keratinocyte differentiation.

Enzyme Numbers (IUBMB) for FA2H Gene

Gene Ontology (GO) - Molecular Function for FA2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity --
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding --
GO:0080132 fatty acid alpha-hydroxylase activity IBA --
genes like me logo Genes that share ontologies with FA2H: view
genes like me logo Genes that share phenotypes with FA2H: view

Animal Models for FA2H Gene

MGI Knock Outs for FA2H:

miRNA for FA2H Gene

miRTarBase miRNAs that target FA2H

No data available for Transcription Factor Targeting and HOMER Transcription for FA2H Gene

Localization for FA2H Gene

Subcellular locations from UniProtKB/Swiss-Prot for FA2H Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FA2H Gene COMPARTMENTS Subcellular localization image for FA2H gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
peroxisome 2
cytosol 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FA2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FA2H: view

Pathways for FA2H Gene

genes like me logo Genes that share pathways with FA2H: view

Pathways by source for FA2H Gene

1 Cell Signaling Technology pathway for FA2H Gene
2 BioSystems pathways for FA2H Gene
1 KEGG pathway for FA2H Gene
1 GeneGo (Thomson Reuters) pathway for FA2H Gene

Gene Ontology (GO) - Biological Process for FA2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001949 sebaceous gland cell differentiation IEA --
GO:0006631 fatty acid metabolic process IBA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with FA2H: view

Compounds for FA2H Gene

(2) HMDB Compounds for FA2H Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
Iron
  • Armco iron
7439-89-6

(1) Novoseek inferred chemical compound relationships for FA2H Gene

Compound -log(P) Hits PubMed IDs
fatty acid 21.5 22
genes like me logo Genes that share compounds with FA2H: view

Transcripts for FA2H Gene

Unigene Clusters for FA2H Gene

Fatty acid 2-hydroxylase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FA2H Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2:
SP3:

Relevant External Links for FA2H Gene

GeneLoc Exon Structure for
FA2H
ECgene alternative splicing isoforms for
FA2H

Expression for FA2H Gene

mRNA expression in normal human tissues for FA2H Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FA2H Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (14.0) and Brain - Substantia nigra (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FA2H Gene

SOURCE GeneReport for Unigene cluster for FA2H Gene Hs.461329

mRNA Expression by UniProt/SwissProt for FA2H Gene

Q7L5A8-FA2H_HUMAN
Tissue specificity: Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney.
genes like me logo Genes that share expressions with FA2H: view

Orthologs for FA2H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FA2H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FA2H 35
  • 98.04 (n)
  • 98.04 (a)
FA2H 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FA2H 35
  • 85.12 (n)
  • 80.72 (a)
FA2H 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FA2H 35
  • 85.13 (n)
  • 81.45 (a)
FA2H 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fa2h 35
  • 85.1 (n)
  • 82.4 (a)
Fa2h 16
Fa2h 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FA2H 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FA2H 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fa2h 35
  • 84.73 (n)
  • 81.28 (a)
chicken
(Gallus gallus)
Aves FA2H 35
  • 72.25 (n)
  • 69.32 (a)
FA2H 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FA2H 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398669 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fa2h 35
  • 62.93 (n)
  • 63.79 (a)
Str.7662 35
zebrafish
(Danio rerio)
Actinopterygii fa2h 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fa2h 35
  • 53.35 (n)
  • 39.94 (a)
fa2h 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C25A1.5 36
  • 41 (a)
OneToOne
CELE_C25A1.5 35
  • 47.33 (n)
  • 45.73 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL183W 35
  • 49.07 (n)
  • 41.36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCS7 35
  • 45.56 (n)
  • 36.97 (a)
SCS7 36
  • 29 (a)
OneToOne
SCS7 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01639g 35
  • 45.04 (n)
  • 36.01 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons FAH1 35
  • 51.17 (n)
  • 45.18 (a)
rice
(Oryza sativa)
Liliopsida Os12g0628400 35
  • 52.7 (n)
  • 48.2 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03492 35
  • 51.78 (n)
  • 40.25 (a)
Species with no ortholog for FA2H:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FA2H Gene

ENSEMBL:
Gene Tree for FA2H (if available)
TreeFam:
Gene Tree for FA2H (if available)

Paralogs for FA2H Gene

Selected SIMAP similar genes for FA2H Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FA2H: view

No data available for Paralogs for FA2H Gene

Variants for FA2H Gene

Sequence variations from dbSNP and Humsavar for FA2H Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs171327 -- 74,740,606(+) AGAGC(A/G)AGACT intron-variant
rs241368 -- 74,737,685(+) GTACT(C/G)AGCTT intron-variant
rs241369 -- 74,741,117(+) TCACG(C/G)AGGGT intron-variant
rs241376 -- 74,745,937(+) agtag(C/T)tggga intron-variant
rs241377 -- 74,746,054(+) tgccc(A/G)cctcg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FA2H Gene

Variant ID Type Subtype PubMed ID
nsv906906 CNV Gain 21882294
nsv906907 CNV Loss 21882294
nsv517513 CNV Loss 19592680
nsv457520 CNV Gain 19166990
esv2714701 CNV Deletion 23290073
esv2662423 CNV Deletion 23128226

Relevant External Links for FA2H Gene

HapMap Linkage Disequilibrium report
FA2H
Human Gene Mutation Database (HGMD)
FA2H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FA2H Gene

Disorders for FA2H Gene

(1) OMIM Diseases for FA2H Gene (611026)

UniProtKB/Swiss-Prot

FA2H_HUMAN
  • Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur. {ECO:0000269 PubMed:19068277, ECO:0000269 PubMed:20104589, ECO:0000269 PubMed:20853438}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) Novoseek inferred disease relationships for FA2H Gene

Disease -log(P) Hits PubMed IDs
leukodystrophy 75.6 4

Relevant External Links for FA2H

Genetic Association Database (GAD)
FA2H
Human Genome Epidemiology (HuGE) Navigator
FA2H
genes like me logo Genes that share disorders with FA2H: view

Publications for FA2H Gene

  1. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). (PMID: 20104589) Dick K.J. … Crosby A.H. (Hum. Mutat. 2010) 2 3 4 23
  2. Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation. (PMID: 17355976) Uchida Y. … Holleran W.M. (J. Biol. Chem. 2007) 3 4 23
  3. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. (PMID: 19068277) Edvardson S. … Elpeleg O. (Am. J. Hum. Genet. 2008) 3 4 23
  4. The human FA2H gene encodes a fatty acid 2-hydroxylase. (PMID: 15337768) Alderson N.L. … Hama H. (J. Biol. Chem. 2004) 3 4 23
  5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PMID: 19834535) Wheeler H.E. … Kim S.K. (PLoS Genet. 2009) 3 48

Products for FA2H Gene

Sources for FA2H Gene

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