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Slc45a2 Gene Detail
Summary
  • Symbol
    Slc45a2
  • Name
    solute carrier family 45, member 2
  • Synonyms
    Aim1, Aim-1, blanc-sale, bls, Dbr, dominant brown, Matp, Oca4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153040
    NCBI Gene: 22293
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:11000807-11029319 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 5.40 cM
  • Mapping Data
    31 experiments
Strain
Comparison
more
  • SNPs within 2kb
    267 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153040
 protein coding gene Chr15:11000807-11029319 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021728
 protein coding gene Chr15:8171600-8200032 (+)
A/J MGP_AJ_G0021688
 protein coding gene Chr15:7928329-7956790 (+)
AKR/J MGP_AKRJ_G0021666
 protein coding gene Chr15:8124012-8154250 (+)
BALB/cJ MGP_BALBcJ_G0021695
 protein coding gene Chr15:7831319-7859807 (+)
C3H/HeJ MGP_C3HHeJ_G0021471
 protein coding gene Chr15:8079614-8108106 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022134
 protein coding gene Chr15:8478703-8507243 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019671
 protein coding gene Chr15:7400060-7428717 (+)
CAST/EiJ MGP_CASTEiJ_G0020987
 protein coding gene Chr15:8135730-8162890 (+)
CBA/J MGP_CBAJ_G0021440
 protein coding gene Chr15:8679224-8711291 (+)
DBA/2J MGP_DBA2J_G0021564
 protein coding gene Chr15:7794368-7822845 (+)
FVB/NJ MGP_FVBNJ_G0021542
 protein coding gene Chr15:7649310-7677772 (+)
LP/J MGP_LPJ_G0021632
 protein coding gene Chr15:8075177-8103707 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021567
 protein coding gene Chr15:8936576-8965008 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022157
 protein coding gene Chr15:8104629-8133063 (+)
PWK/PhJ MGP_PWKPhJ_G0020730
 protein coding gene Chr15:7968143-7995632 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020568
 protein coding gene Chr15:8052593-8080795 (+)
WSB/EiJ MGP_WSBEiJ_G0021043
 protein coding gene Chr15:8087707-8117426 (+)



Homology
more
  • Human Ortholog
    SLC45A2, solute carrier family 45 member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC45A2, solute carrier family 45 member 2
  • Synonyms
    1A1, AIM1, MATP, OCA4, SHEP5
  • Links
    NCBI Gene ID: 51151
    neXtProt AC: NX_Q9UMX9
    UniProt: Q9UMX9

  • Chr Location
    5p13.2; chr5:33944623-33984693 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc45a2 mouse models; 2 with human SLC45A2 associations

Human Disease Mouse Models
      
IDs
 View 7 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 20 alleles in 21 genetic backgrounds
    2 images
    35 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.
Homozygotes for spontaneous mutations exhibit varied degrees of hypopigmentation of the eyes, skin, and hair, especially the underfur. Eyes are very light at birth but darken with age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    8
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
    804
  • Tissues
    15
  • cDNA Data
    10
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22293 NCBI Gene Model | MGI Sequence Detail 28513 C57BL/6J ±  kb
    transcript NM_053077 RefSeq | MGI Sequence Detail 2983 ZRU/MplStud  
    polypeptide P58355 UniProt | EBI | MGI Sequence Detail 530 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 10
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15377, MGD-MRK-1579, MGD-MRK-8804, MGI:98920
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 8
      Phenotypes 35
    • Earliest
      J:5291 Eicher EM, et al., The T6 translocation in the mouse: its use in trisomy mapping, centromere localization, and cytological identification of linkage group 3. Genetics. 1972 Aug;71(4):621-32
    • Latest
      J:328663 Liu Y, et al., Ablation of Proton/Glucose Exporter SLC45A2 Enhances Melanosomal Glycolysis to Inhibit Melanin Biosynthesis and Promote Melanoma Metastasis. J Invest Dermatol. 2022 Apr 23;
    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)
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    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