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Sord Gene Detail
Summary
  • Symbol
    Sord
  • Name
    sorbitol dehydrogenase
  • Synonyms
    Sdh1, Sdh-1, Sodh-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98266
    NCBI Gene: 20322
  • Gene Overview
    MyGene.info: SORD
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr2:122234749-122265340 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      30592 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 60.59 cM
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    SORD, sorbitol dehydrogenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SORD, sorbitol dehydrogenase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HEL-S-95n, SORD1
  • Links
    NCBI Gene ID: 6652
    neXtProt AC: NX_Q00796
    UniProt: Q00796

  • Chr Location
    15q21.1; chr15:45023104-45075089 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Sord 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
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    13 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 functional null allele found in strain C57BL/LiA exhibit no obvious abnormalities in the kidney or other physiological systems. An additional isoelectric focusing variant is found in Peru stocks and has about 25% of the activity of that in most inbred strains.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    9
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
    270
  • Tissues
    270
  • cDNA Data
    19
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000015564 VEGA Gene Model | MGI Sequence Detail 30592 C57BL/6J ±  kb
    transcript OTTMUST00000036985 VEGA | MGI Sequence Detail 2352 Not Applicable  
    polypeptide OTTMUSP00000016594 VEGA | MGI Sequence Detail 357 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      280 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 21
      cDNA 20
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14340, MGD-MRK-14341, MGD-MRK-35108
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 9
      Phenotypes 13
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:222615 Abe K, et al., The first murine zygotic transcription is promiscuous and uncoupled from splicing and 3' processing. EMBO J. 2015 Jun 3;34(11):1523-37
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    06/05/2018
    MGI 6.12     		The Jackson Laboratory