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Aldh1l2 Gene Detail
Summary
  • Symbol
    Aldh1l2
  • Name
    aldehyde dehydrogenase 1 family, member L2
  • Synonyms
    D330038I09Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444680
    NCBI Gene: 216188
  • Gene Overview
    MyGene.info: ALDH1L2
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:83323314-83370004 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 41.27 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    196 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444680
protein coding gene Chr10:83320386-83370008 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017586
protein coding gene Chr10:84302194-84344949 (-)
A/J MGP_AJ_G0017566
protein coding gene Chr10:81450491-81494569 (-)
AKR/J MGP_AKRJ_G0017525
protein coding gene Chr10:83701295-83747804 (-)
BALB/cJ MGP_BALBcJ_G0017529
protein coding gene Chr10:81693769-81745669 (-)
C3H/HeJ MGP_C3HHeJ_G0017351
protein coding gene Chr10:83794727-83842239 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017986
protein coding gene Chr10:87199058-87248525 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015670
protein coding gene Chr10:77145418-77193226 (-)
CAST/EiJ MGP_CASTEiJ_G0016918
protein coding gene Chr10:83673421-83716824 (-)
CBA/J MGP_CBAJ_G0017321
protein coding gene Chr10:90814399-90868251 (-)
DBA/2J MGP_DBA2J_G0017427
protein coding gene Chr10:80603179-80646541 (-)
FVB/NJ MGP_FVBNJ_G0017421
protein coding gene Chr10:79838880-79884881 (-)
LP/J MGP_LPJ_G0017499
protein coding gene Chr10:84941152-84987208 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017449
protein coding gene Chr10:92481426-92527759 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018023
protein coding gene Chr10:83640993-83684182 (-)
PWK/PhJ MGP_PWKPhJ_G0016699
protein coding gene Chr10:80466464-80514640 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016489
protein coding gene Chr10:82244601-82289647 (-)
WSB/EiJ MGP_WSBEiJ_G0016977
protein coding gene Chr10:83650939-83699030 (-)



Homology
more
  • Human Ortholog
    ALDH1L2, aldehyde dehydrogenase 1 family member L2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALDH1L2, aldehyde dehydrogenase 1 family member L2
  • Synonyms
    mtFDH
  • Links
    NCBI Gene ID: 160428
    neXtProt AC: NX_Q3SY69
    UniProt: Q3SY69

  • Chr Location
    12q23.3; chr12:105019784-105084609 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Aldh1l2 mouse models

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
    22 phenotypes from 1 allele in 1 genetic background
    9 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.
Homozygous knockout affects liver metabolism in male mice, leading to fatty livers.
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 population 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
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
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020256 Ensembl Gene Model | MGI Sequence Detail 46691 C57BL/6J ±  kb
    transcript ENSMUST00000020497 Ensembl | MGI Sequence Detail 6027 Not Applicable  
    polypeptide ENSMUSP00000020497 Ensembl | MGI Sequence Detail 923 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000032529 mitochondrial 10-formyltetrahydrofolate dehydrogenase
    • EC
    • InterPro Domains
      IPR011407 10-formyltetrahydrofolate dehydrogenase
      IPR036736 ACP-like superfamily
      IPR016163 Aldehyde dehydrogenase, C-terminal
      IPR016160 Aldehyde dehydrogenase, cysteine active site
      IPR015590 Aldehyde dehydrogenase domain
      IPR029510 Aldehyde dehydrogenase, glutamic acid active site
      IPR016162 Aldehyde dehydrogenase, N-terminal
      IPR016161 Aldehyde/histidinol dehydrogenase
      IPR005793 Formyl transferase, C-terminal
      IPR037022 Formyl transferase, C-terminal domain superfamily
      IPR011034 Formyl transferase-like, C-terminal domain superfamily
      IPR002376 Formyl transferase, N-terminal
      IPR036477 Formyl transferase, N-terminal domain superfamily
      IPR006162 Phosphopantetheine attachment site
      IPR009081 Phosphopantetheine binding ACP domain
      IPR001555 Phosphoribosylglycinamide formyltransferase, active site
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 44

      Microarray probesets 2
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 6
      Phenotypes 9
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:299012 Krupenko NI, et al., Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder. Hum Genomics. 2020 Nov 9;14(1):41

    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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    last database update
    01/12/2022
    MGI 6.17
    The Jackson Laboratory