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L2hgdh Gene Detail
Summary
  • Symbol
    L2hgdh
  • Name
    L-2-hydroxyglutarate dehydrogenase
  • Synonyms
    MGC:28775
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384968
    NCBI Gene: 217666
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:69737210-69771648 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 28.94 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    175 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384968
 protein coding gene Chr12:69737207-69771648 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019799
 protein coding gene Chr12:69398237-69432652 (-)
A/J MGP_AJ_G0019757
 protein coding gene Chr12:66804294-66841205 (-)
AKR/J MGP_AKRJ_G0019733
 protein coding gene Chr12:68802611-68841729 (-)
BALB/cJ MGP_BALBcJ_G0019737
 protein coding gene Chr12:67261858-67296754 (-)
C3H/HeJ MGP_C3HHeJ_G0019543
 protein coding gene Chr12:69269909-69307454 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020189
 protein coding gene Chr12:71619942-71658786 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017809
 protein coding gene Chr12:64343877-64376110 (-)
CAST/EiJ MGP_CASTEiJ_G0019094
 protein coding gene Chr12:64024815-64060627 (-)
CBA/J MGP_CBAJ_G0019512
 protein coding gene Chr12:74253345-74292999 (-)
DBA/2J MGP_DBA2J_G0019628
 protein coding gene Chr12:66716332-66752695 (-)
FVB/NJ MGP_FVBNJ_G0019615
 protein coding gene Chr12:65616291-65650821 (-)
LP/J MGP_LPJ_G0019700
 protein coding gene Chr12:69341187-69374893 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019654
 protein coding gene Chr12:77572913-77608465 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020224
 protein coding gene Chr12:68277399-68322237 (-)
PWK/PhJ MGP_PWKPhJ_G0018859
 protein coding gene Chr12:60985113-61024150 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018654
 protein coding gene Chr12:62653097-62689360 (-)
WSB/EiJ MGP_WSBEiJ_G0019145
 protein coding gene Chr12:68911936-68944982 (-)



Homology
more
  • Human Ortholog
    L2HGDH, L-2-hydroxyglutarate dehydrogenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    L2HGDH, L-2-hydroxyglutarate dehydrogenase
  • Synonyms
    C14orf160, L2HGA
  • Links
    NCBI Gene ID: 79944
    neXtProt AC: NX_Q9H9P8
    UniProt: Q9H9P8

  • Chr Location
    14q21.3; chr14:50237563-50312229 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with L2hgdh mouse models; 5 with human L2HGDH associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
IDs
IDs
IDs
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
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    11 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.
Mice homozygous for a hypomorphic allele exhibit increased levels of lysine and arginine associated with decreases in saccharopine, glutamine, and glutamate in adult brains, neurobehavioral deficits, and brain spongiosis with vacuolar lesions mostly affecting oligodendrocytes and myelin sheaths.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    5
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
non-membrane-bounded 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
    800
  • Tissues
    94
  • cDNA Data
    48
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative Sequences Length Strain/Species Flank
    genomic 217666 NCBI Gene Model | MGI Sequence Detail 34439 C57BL/6J ±  kb
    transcript NM_145443 RefSeq | MGI Sequence Detail 3338 C57BL/6  
    polypeptide Q91YP0 UniProt | EBI | MGI Sequence Detail 464 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 48

      Microarray probesets 3
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 11
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:298042 Brinkley G, et al., Teleological Role of L-2-Hydroxyglutarate Dehydrogenase in the Kidney. Dis Model Mech. 2020 Sep 14;:dmm045898
    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)
    Citing These Resources
    Funding Information
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    04/16/2024
    MGI 6.23    		 The Jackson Laboratory