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Slc22a5 Gene Detail
Summary
  • Symbol
    Slc22a5
  • Name
    solute carrier family 22 (organic cation transporter), member 5
  • Synonyms
    Lstpl, Octn2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1329012
    NCBI Gene: 20520
  • Gene Overview
    MyGene.info: SLC22A5
Location & Maps
more
  • Sequence Map
    Chr11:53864542-53891660 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27119 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 32.02 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    SLC22A5, solute carrier family 22 member 5
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SLC22A5, solute carrier family 22 member 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CDSP, OCTN2
  • Links
    NCBI Gene ID: 6584
    neXtProt AC: NX_O76082

  • Chr Location
    5q23.3; chr5:132369704-132395614 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Slc22a5 mouse models; 1 with human SLC22A5 associations

Human Disease Mouse Models
       Carnitine Deficiency, Systemic Primary; CDSP   OMIM: 212140 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    48 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.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    3
  • Transgenic
    1
  • Genomic Mutations
    2 involving Slc22a5
  • Incidental Mutations
Homozygotes for a spontaneous missense mutation exhibit systemic carnitine deficiency, cardiac hypertrophy, impaired Na-dependent carnitine transport, fatty liver, hypoglycemia, high postnatal mortality, and male infertility.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005649 VEGA Gene Model | MGI Sequence Detail 27119 C57BL/6J ±  kb
transcript OTTMUST00000012569 VEGA | MGI Sequence Detail 3062 Not Applicable  
polypeptide OTTMUSP00000005825 VEGA | MGI Sequence Detail 557 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    213 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    5 Sequences
  • InterPro Domains
    IPR005828 Major facilitator, sugar transporter-like
    IPR020846 Major facilitator superfamily domain
    IPR004749 Organic cation transport protein/SVOP
    IPR005829 Sugar transporter, conserved site
Molecular
Reagents
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  • All nucleic 73
    Genomic 6
    cDNA 62
    Primer pair 4
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-11546, MGI:894333, MGI:96652
References
more
  • Summaries
    All 80
    Developmental Gene Expression 7
    Diseases 8
    Gene Ontology 21
    Phenotypes 48
  • Earliest
    J:31026 Koizumi T, et al., Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2(0) strain of mouse with similarities to Reye's syndrome. Lab Anim. 1988 Jan;22(1):83-7
  • Latest
    J:227211 Zhang Y, et al., Maternal bile acid transporter deficiency promotes neonatal demise. Nat Commun. 2015;6:8186

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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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory