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FA2H Gene(Protein Coding)

Fatty Acid 2-Hydroxylase

GCID:
GC16M074746
GIFtS:
53
Genes Participants
UDN Logo

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 Paraparesis. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (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

Additional gene information for FA2H Gene

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

Genomics for FA2H Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for FA2H Gene

Promoters and enhancers for FA2H Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I074773 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 559.6 +0.4 424 2 ARID4B SIN3A ZBTB7B ZNF48 GLIS2 ELK1 ZNF143 ATF7 SP3 SP5 FA2H WDR59 MLKL
GH16I074740 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +31.6 31641 5.1 CLOCK ATF1 FOXA2 NEUROD1 SIN3A ZNF2 BRCA1 ZNF121 GLIS2 ZNF213 FA2H ENSG00000214331 ENSG00000261079 ENSG00000259972 NPIPB15 ADAT1 MLKL WDR59 ENSG00000260884 RNU6-237P
GH16I074729 Enhancer 1.2 Ensembl ENCODE dbSUPER 17.4 +42.5 42538 6.4 FOXA2 NEUROD1 SIN3A RARA SMARCC2 RCOR1 EGR2 SMARCC1 GATAD2B ELF1 FA2H MLKL RFWD3
GH16I074724 Enhancer 0.8 ENCODE dbSUPER 21.7 +49.0 49048 3.1 CTCF RFX1 DPF2 RAD21 CTBP1 ZNF143 FOS TRIM28 FA2H MLKL RFWD3
GH16I074737 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 12.3 +36.1 36125 3.2 KLF1 NFIB MAX KLF17 ZIC2 GLIS2 POLR2A PATZ1 SCRT2 SMC3 FA2H RFWD3 MLKL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FA2H on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FA2H gene promoter:

Genomic Locations for FA2H Gene

Genomic Locations for FA2H Gene
chr16:74,712,955-74,774,831
(GRCh38/hg38)
Size:
61,877 bases
Orientation:
Minus strand
chr16:74,746,853-74,808,729
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for FA2H Gene

Proteins for FA2H Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for FA2H Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FA2H Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FA2H Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FA2H Gene

Domains & Families for FA2H Gene

Gene Families for FA2H Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FA2H Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FA2H Gene

GenScript: Design optimal peptide antigens:

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.
Family:
  • Belongs to the sterol desaturase family. SCS7 subfamily.
genes like me logo Genes that share domains with FA2H: view

Function for FA2H Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Phenotypes From GWAS Catalog 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 IEA --
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding IEA --
GO:0080132 fatty acid alpha-hydroxylase activity TAS --
genes like me logo Genes that share ontologies with FA2H: view
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

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FA2H gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
plasma membrane 2
lysosome 2
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (1)
See all subcellular structures

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 TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with FA2H: view

Pathways & Interactions for FA2H Gene

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

Pathways by source for FA2H Gene

1 BioSystems 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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IBA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0008610 lipid biosynthetic process IEA --
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

Products:

  1. Drug

(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: Novoseek and HMDB

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

Drug Products

Transcripts for FA2H Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FA2H Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(105) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FA2H Gene

Fatty acid 2-hydroxylase:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FA2H Gene

mRNA expression in normal human tissues for FA2H Gene
mRNA expression by GTEx for FA2H GenemRNA expression by BioGPS 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, MaxQB, and MOPED for FA2H Gene



Protein tissue co-expression partners for FA2H Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FA2H Gene:

FA2H

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.

Evidence on tissue expression from TISSUES for FA2H Gene

  • Stomach(4.3)
  • Intestine(4.1)
  • Pancreas(4.1)
  • Nervous system(3.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FA2H Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 33 34
  • 98.04 (n)
dog
(Canis familiaris)
 Mammalia FA2H 33 34
  • 85.13 (n)
cow
(Bos Taurus)
 Mammalia FA2H 33 34
  • 85.12 (n)
mouse
(Mus musculus)
 Mammalia Fa2h 33 16 34
  • 85.1 (n)
rat
(Rattus norvegicus)
 Mammalia Fa2h 33
  • 84.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia FA2H 34
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FA2H 34
  • 58 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FA2H 33 34
  • 72.25 (n)
lizard
(Anolis carolinensis)
 Reptilia FA2H 34
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fa2h 33
  • 62.93 (n)
Str.7662 33
African clawed frog
(Xenopus laevis)
 Amphibia LOC398669 33
zebrafish
(Danio rerio)
 Actinopterygii fa2h 34
  • 56 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta fa2h 33 34
  • 53.35 (n)
worm
(Caenorhabditis elegans)
 Secernentea CELE_C25A1.5 33
  • 47.33 (n)
C25A1.5 34
  • 41 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AAL183W 33
  • 49.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SCS7 33 34 36
  • 45.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D01639g 33
  • 45.04 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons FAH1 33
  • 51.17 (n)
rice
(Oryza sativa)
 Liliopsida Os12g0628400 33
  • 52.7 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU03492 33
  • 51.78 (n)
Species where no ortholog for FA2H was found in the sources mined by GeneCards:
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for FA2H Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1007593046 uncertain-significance, Spastic paraplegia 35 74,713,538(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1046371 benign, Spastic paraplegia 35 74,713,126(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057519235 uncertain-significance, not provided, Spastic paraplegia 74,774,551(-) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs115024147 likely-benign, Spastic paraplegia 35 74,713,947(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs11554620 benign, likely-benign, not specified, Spastic paraplegia 35, Spastic paraplegia 74,716,453(-) A/G 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv2662423 CNV deletion 23128226
esv2714701 CNV deletion 23290073
esv3425523 CNV insertion 20981092
nsv457520 CNV gain 19166990
nsv517513 CNV loss 19592680
nsv572976 CNV gain 21841781
nsv952054 CNV deletion 24416366

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)

Additional Variant Information for FA2H Gene

Human Gene Mutation Database (HGMD)
FA2H
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FA2H

SNP Genotyping and Copy Number Assay Products

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

Disorders for FA2H Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for FA2H

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 KJ … Crosby AH (Human mutation 2010) 2 3 4 22 58
  2. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. (PMID: 19068277) Edvardson S … Elpeleg O (American journal of human genetics 2008) 3 4 22 58
  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 WM (The Journal of biological chemistry 2007) 3 4 22 58
  4. The human FA2H gene encodes a fatty acid 2-hydroxylase. (PMID: 15337768) Alderson NL … Hama H (The Journal of biological chemistry 2004) 3 4 22 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for FA2H Gene

Sources for FA2H Gene

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