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Fa2h Gene Detail
Summary
  • Symbol
    Fa2h
  • Name
    fatty acid 2-hydroxylase
  • Synonyms
    Faxdc1, G630055L08Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443327
    NCBI Gene: 338521
  • Gene Overview
    MyGene.info: FA2H
Location & Maps
more
  • Sequence Map
    Chr8:111345135-111393824 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48690 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 57.98 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    FA2H, fatty acid 2-hydroxylase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FA2H, fatty acid 2-hydroxylase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FAAH, FAH1, FAXDC1, SCS7, SPG35
  • Links
    NCBI Gene ID: 79152
    neXtProt AC: NX_Q7L5A8

  • Chr Location
    16q23; chr16:74712955-74774831 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Fa2h mouse models; 1 with human FA2H associations

Human Disease Mouse Models
       Spastic Paraplegia 35, Autosomal Recessive; SPG35   OMIM: 612319 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 3 alleles in 2 genetic backgrounds
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a null allele show demyelination, axonal loss, and cerebellar dysfunction. Homozygotes for a different null allele show late onset axon and myelin sheath degeneration, delayed fur emergence, altered sebum composition, sebocyte hyperproliferation, and cyclic alopecia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027478 VEGA Gene Model | MGI Sequence Detail 48690 C57BL/6J ±  kb
transcript OTTMUST00000068006 VEGA | MGI Sequence Detail 2492 Not Applicable  
polypeptide OTTMUSP00000034302 VEGA | MGI Sequence Detail 372 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    132 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 33
    cDNA 33

    Microarray probesets 3
References
more
  • Summaries
    All 30
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 8
    Phenotypes 6
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:216600 Lau CG, et al., Morphology-based mammalian stem cell tests reveal potential developmental toxicity of donepezil. Mol Reprod Dev. 2014 Nov;81(11):994-1008

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory