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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:111345138-111393821 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 57.98 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    132 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443327
protein coding gene Chr8:111345135-111393824 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034139
protein coding gene Chr8:114118110-114170893 (-)
A/J MGP_AJ_G0034119
protein coding gene Chr8:109475247-109524982 (-)
AKR/J MGP_AKRJ_G0034046
protein coding gene Chr8:112683333-112733653 (-)
BALB/cJ MGP_BALBcJ_G0034113
protein coding gene Chr8:109658282-109708807 (-)
C3H/HeJ MGP_C3HHeJ_G0033824
protein coding gene Chr8:113393580-113445962 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034633
protein coding gene Chr8:118108172-118165662 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031575
protein coding gene Chr8:102444672-102496875 (-)
CAST/EiJ MGP_CASTEiJ_G0033151
protein coding gene Chr8:113033650-113087091 (-)
CBA/J MGP_CBAJ_G0033797
protein coding gene Chr8:122143437-122197101 (-)
DBA/2J MGP_DBA2J_G0033953
protein coding gene Chr8:108761346-108810244 (-)
FVB/NJ MGP_FVBNJ_G0033896
protein coding gene Chr8:107725574-107777441 (-)
LP/J MGP_LPJ_G0034043
protein coding gene Chr8:114285017-114335237 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033943
protein coding gene Chr8:124996074-125047555 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034651
protein coding gene Chr8:112660011-112713795 (-)
PWK/PhJ MGP_PWKPhJ_G0032853
protein coding gene Chr8:108349997-108402801 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032693
protein coding gene Chr8:111325817-111382402 (-)
WSB/EiJ MGP_WSBEiJ_G0033267
protein coding gene Chr8:113337480-113390336 (-)



Homology
more
  • Human Ortholog
    FA2H, fatty acid 2-hydroxylase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FA2H, fatty acid 2-hydroxylase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    FAAH, FAH1, FAXDC1, SCS7, SPG35
  • Links
    NCBI Gene ID: 79152
    neXtProt AC: NX_Q7L5A8
    UniProt: Q7L5A8

  • Chr Location
    16q23.1; chr16:74712955-74774831 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
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
    36 phenotypes from 3 alleles in 2 genetic backgrounds
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 338521 NCBI Gene Model | MGI Sequence Detail 48684 C57BL/6J ±  kb
transcript NM_178086 RefSeq | MGI Sequence Detail 2492 C57BL/6  
polypeptide Q5MPP0 UniProt | EBI | MGI Sequence Detail 372 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 34
    cDNA 34

    Microarray probesets 3
References
more
  • Summaries
    All 34
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 9
    Phenotypes 7
  • Earliest
    J:2300 Charles CH, et al., cDNA sequence of a growth factor-inducible immediate early gene and characterization of its encoded protein. Oncogene. 1992 Jan;7(1):187-90
  • Latest
    J:242701 von Gerichten J, et al., Diastereomer-specific quantification of bioactive hexosylceramides from bacteria and mammals. J Lipid Res. 2017 Jun;58(6):1247-1258

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory