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Aliases for FA2H Gene

Aliases for FA2H Gene

  • Fatty Acid 2-Hydroxylase 2 3 5
  • Spastic Paraplegia 35 (Autosomal Recessive) 2 3
  • Fatty Acid Hydroxylase Domain Containing 1 2 3
  • Fatty Acid Alpha-Hydroxylase 3 4
  • FAAH 3 4
  • Fatty Acid Hydroxylase 2
  • EC 1.-.-.- 4
  • FAXDC1 3
  • SPG35 3
  • FAH1 3
  • SCS7 3

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 Metabolism and Sphingolipid metabolism. GO annotations related to this gene include oxidoreductase activity and heme binding.

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

Enhancers for FA2H Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FA2H on UCSC Golden Path with GeneCards custom track

Promoters for FA2H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FA2H on UCSC Golden Path with GeneCards custom track

Genomic Location for FA2H Gene

Chromosome:
16
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

Genes around FA2H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FA2H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FA2H Gene

No data available for DME Specific Peptides for FA2H Gene

Domains & Families for FA2H Gene

Gene Families for FA2H Gene

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 :
  • The histidine box domains may contain the active site and/or be involved in metal ion binding.
  • Belongs to the sterol desaturase family. SCS7 subfamily.
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

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

Human Phenotype Ontology for FA2H Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FA2H Gene

MGI Knock Outs for FA2H:

Animal Model Products

miRNA for FA2H Gene

miRTarBase miRNAs that target FA2H

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 3
lysosome 2
vacuole 2
cytoskeleton 1
cytosol 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for FA2H Gene

Pathways & Interactions for FA2H Gene

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

Pathways by source for FA2H Gene

Gene Ontology (GO) - Biological Process for FA2H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0030148 sphingolipid biosynthetic process TAS --
GO:0032286 central nervous system myelin maintenance IEA --
GO:0042634 regulation of hair cycle IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with FA2H: view

No data available for SIGNOR curated interactions for FA2H Gene

Drugs & Compounds for FA2H Gene

(2) Drugs for FA2H Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
WWL 70 Pharma α/β-hydrolase domain 6 inhibitor, Potent ABHD6 inhibitor 0
heme Pharma Agonist 0

(2) Additional Compounds for FA2H Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0

(1) ApexBio Compounds for FA2H Gene

Compound Action Cas Number
WWL 70 α/β-hydrolase domain 6 inhibitor 947669-91-2
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) (x14.0) and Brain - Substantia nigra (x6.0).

Protein differential expression in normal tissues from HIPED for FA2H Gene

This gene is overexpressed in Frontal cortex (46.9), Stomach (15.9), and Spinal cord (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FA2H: view

Protein tissue co-expression partners for FA2H Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for FA2H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FA2H Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia FA2H 35
  • 98.04 (n)
  • 98.04 (a)
FA2H 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fa2h 35
  • 84.73 (n)
  • 81.28 (a)
oppossum
(Monodelphis domestica)
Mammalia FA2H 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FA2H 36
  • 58 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia fa2h 35
  • 62.93 (n)
  • 63.79 (a)
Str.7662 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398669 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 CELE_C25A1.5 35
  • 47.33 (n)
  • 45.73 (a)
C25A1.5 36
  • 41 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL183W 35
  • 49.07 (n)
  • 41.36 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01639g 35
  • 45.04 (n)
  • 36.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SCS7 35
  • 45.56 (n)
  • 36.97 (a)
SCS7 36
  • 29 (a)
OneToOne
SCS7 38
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

(3) 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
rs35874850 - 74,740,097(-) ACGAG(C/G)CTGTA reference, missense
VAR_054893 Spastic paraplegia 35, autosomal recessive (SPG35)
VAR_064621 Spastic paraplegia 35, autosomal recessive (SPG35)
VAR_065245 Spastic paraplegia 35, autosomal recessive (SPG35)
rs8062008 -- 74,766,588(+) TAGCG(A/C)GGCTC 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

Variation tolerance for FA2H Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.69% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(14) MalaCards diseases for FA2H Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 35, autosomal recessive
  • fatty acid hydroxylase-associated neurodegeneration
spastic paraplegia 35
  • spastic paraplegia 35, autosomal recessive
spastic paraparesis
leukodystrophy
  • leukodystrophies
paraplegia
  • paraplegia, lower
- elite association - COSMIC cancer census association via MalaCards
Search FA2H in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FA2H

Genetic Association Database (GAD)
FA2H
Human Genome Epidemiology (HuGE) Navigator
FA2H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FA2H
genes like me logo Genes that share disorders with FA2H: view

No data available for Genatlas for FA2H Gene

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 67
  2. 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 23
  3. 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 23
  4. The human FA2H gene encodes a fatty acid 2-hydroxylase. (PMID: 15337768) Alderson N.L. … Hama H. (J. Biol. Chem. 2004) 3 23
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for FA2H Gene

Sources for FA2H Gene

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