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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:112071770-112120453 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 57.98 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1171 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 Chr8:112071767-112120456 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FA2H, fatty acid 2-hydroxylase
  • 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
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
less
  • Phenotype Summary
    54 phenotypes from 5 alleles in 4 genetic backgrounds
    15 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
less
  • All GO Annotations
    36
  • GO References
    16
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    737
  • Tissues
    8
  • cDNA Data
    34
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 39
      cDNA 34
      Primer pair 3
      Other 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 16
      Phenotypes 15
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory