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Mfsd12 Gene Detail
Summary
  • Symbol
    Mfsd12
  • Name
    major facilitator superfamily domain containing 12
  • Synonyms
    F630110N24Rik, gr, Wdt1
  • Feature Type
    protein coding gene
  • IDs
    MGI:3604804
    NCBI Gene: 73822
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:81193325-81202059 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    14 experiments
Strain
Comparison
more
  • SNPs within 2kb
    17 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3604804
 protein coding gene Chr10:81193325-81202059 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017554
 protein coding gene Chr10:82069846-82078579 (+)
A/J MGP_AJ_G0017532
 protein coding gene Chr10:79161305-79170037 (+)
AKR/J MGP_AKRJ_G0017493
 protein coding gene Chr10:81336073-81344822 (+)
BALB/cJ MGP_BALBcJ_G0017494
 protein coding gene Chr10:79381139-79389878 (+)
C3H/HeJ MGP_C3HHeJ_G0017317
 protein coding gene Chr10:81436506-81445240 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017948
 protein coding gene Chr10:84888642-84897373 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015637
 protein coding gene Chr10:75359119-75368243 (+)
CAST/EiJ MGP_CASTEiJ_G0016884
 protein coding gene Chr10:81666811-81677215 (+)
CBA/J MGP_CBAJ_G0017289
 protein coding gene Chr10:88202866-88211600 (+)
DBA/2J MGP_DBA2J_G0017395
 protein coding gene Chr10:78365795-78374529 (+)
FVB/NJ MGP_FVBNJ_G0017389
 protein coding gene Chr10:77615975-77625573 (+)
LP/J MGP_LPJ_G0017466
 protein coding gene Chr10:82518925-82527656 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017415
 protein coding gene Chr10:90043803-90052533 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017989
 protein coding gene Chr10:81345713-81354445 (+)
PWK/PhJ MGP_PWKPhJ_G0016665
 protein coding gene Chr10:78259988-78268815 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016455
 protein coding gene Chr10:80294036-80302808 (+)
WSB/EiJ MGP_WSBEiJ_G0016944
 protein coding gene Chr10:81380507-81389257 (+)



Homology
more
  • Human Ortholog
    MFSD12, major facilitator superfamily domain containing 12
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MFSD12, major facilitator superfamily domain containing 12
  • Synonyms
    C19orf28, PP3501, SLC59B1
  • Links
    NCBI Gene ID: 126321
    neXtProt AC: NX_Q6NUT3
    UniProt: Q6NUT3

  • Chr Location
    19p13.3; chr19:3538261-3574290 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    18 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    23 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 null allele exhibit a grey (grizzled) coat.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • 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
    716
  • Tissues
    2
  • cDNA Data
    15
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 73822 NCBI Gene Model | MGI Sequence Detail 8735 C57BL/6J ±  kb
    transcript NM_028657 RefSeq | MGI Sequence Detail 3987 C57BL/6  
    polypeptide Q3U481 UniProt | EBI | MGI Sequence Detail 476 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-10239, MGI:95803
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 2
      Gene Ontology 10
      Phenotypes 23
    • Earliest
      J:11987 Bloom JL, et al., "Grizzled", a mutant in linkage group X of the mouse. Genet Res. 1966;7(2):159-167
    • Latest
      J:303218 Adelmann CH, et al., MFSD12 mediates the import of cysteine into melanosomes and lysosomes. Nature. 2020 Dec;588(7839):699-704
    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