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Abhd12 Gene Detail
Summary
  • Symbol
    Abhd12
  • Name
    abhydrolase domain containing 12
  • Synonyms
    1500011G07Rik, 6330583M11Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923442
    NCBI Gene: 76192
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:150674413-150746661 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 74.74 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    541 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923442
 protein coding gene Chr2:150674413-150746705 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026632
 protein coding gene Chr2:155276945-155350327 (-)
A/J MGP_AJ_G0026599
 protein coding gene Chr2:149033116-149104979 (-)
AKR/J MGP_AKRJ_G0026570
 protein coding gene Chr2:153356004-153432084 (-)
BALB/cJ MGP_BALBcJ_G0026609
 protein coding gene Chr2:149459213-149538411 (-)
C3H/HeJ MGP_C3HHeJ_G0026352
 protein coding gene Chr2:153790978-153863703 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027057
 protein coding gene Chr2:159820898-159895755 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024429
 protein coding gene Chr2:142898477-142974074 (-)
CAST/EiJ MGP_CASTEiJ_G0025812
 protein coding gene Chr2:154047032-154118727 (-)
CBA/J MGP_CBAJ_G0026331
 protein coding gene Chr2:165672732-165750693 (-)
DBA/2J MGP_DBA2J_G0026465
 protein coding gene Chr2:148277820-148352176 (-)
FVB/NJ MGP_FVBNJ_G0026430
 protein coding gene Chr2:146737058-146808441 (-)
LP/J MGP_LPJ_G0026569
 protein coding gene Chr2:155422456-155495601 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026452
 protein coding gene Chr2:169782239-169857986 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027112
 protein coding gene Chr2:153289515-153363561 (-)
PWK/PhJ MGP_PWKPhJ_G0025547
 protein coding gene Chr2:147905918-147979035 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025349
 protein coding gene Chr2:152215311-152296423 (-)
WSB/EiJ MGP_WSBEiJ_G0025885
 protein coding gene Chr2:154255843-154329344 (-)



Homology
more
  • Human Ortholog
    ABHD12, abhydrolase domain containing 12, lysophospholipase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABHD12, abhydrolase domain containing 12, lysophospholipase
  • Synonyms
    ABHD12A, BEM46L2, C20orf22, dJ965G21.2, hABHD12, PHARC
  • Links
    NCBI Gene ID: 26090
    neXtProt AC: NX_Q8N2K0
    UniProt: Q8N2K0

  • Chr Location
    20p11.21; chr20:25294742-25390835 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abhd12 mouse models; 1 with human ABHD12 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
    12 phenotypes from 1 allele in 1 genetic background
    1 images
    20 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 knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    33
  • GO References
    10
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
    706
  • cDNA Data
    81
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032046 Ensembl Gene Model | MGI Sequence Detail 72249 C57BL/6J ±  kb
    transcript ENSMUST00000056149 Ensembl | MGI Sequence Detail 1999 Not Applicable  
    polypeptide ENSMUSP00000053558 Ensembl | MGI Sequence Detail 398 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 81
      cDNA 81

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1916235, MGI:2138943, MGI:2139377
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 10
      Phenotypes 20
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory