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Slc25a46 Gene Detail
Summary
  • Symbol
    Slc25a46
  • Name
    solute carrier family 25, member 46
  • Synonyms
    1200007B05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914703
    NCBI Gene: 67453
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:31713217-31743585 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 17.79 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    761 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914703
 protein coding gene Chr18:31689164-31743585 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024213
 protein coding gene Chr18:29685378-29715037 (-)
A/J MGP_AJ_G0024178
 protein coding gene Chr18:28705388-28735398 (-)
AKR/J MGP_AKRJ_G0024147
 protein coding gene Chr18:29498154-29527800 (-)
BALB/cJ MGP_BALBcJ_G0024178
 protein coding gene Chr18:28798506-28828199 (-)
C3H/HeJ MGP_C3HHeJ_G0023946
 protein coding gene Chr18:29526191-29555824 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024620
 protein coding gene Chr18:30741251-30774976 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022062
 protein coding gene Chr18:28931684-28960809 (-)
CAST/EiJ MGP_CASTEiJ_G0023421
 protein coding gene Chr18:29425788-29458325 (-)
CBA/J MGP_CBAJ_G0023914
 protein coding gene Chr18:31706324-31737828 (-)
DBA/2J MGP_DBA2J_G0024046
 protein coding gene Chr18:28380091-28411308 (-)
FVB/NJ MGP_FVBNJ_G0024012
 protein coding gene Chr18:28090426-28120219 (-)
LP/J MGP_LPJ_G0024127
 protein coding gene Chr18:29769392-29801553 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024040
 protein coding gene Chr18:33061775-33095141 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024668
 protein coding gene Chr18:29362972-29392527 (-)
PWK/PhJ MGP_PWKPhJ_G0023164
 protein coding gene Chr18:28531913-28561814 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022973
 protein coding gene Chr18:29576377-29608403 (-)
WSB/EiJ MGP_WSBEiJ_G0023484
 protein coding gene Chr18:29261353-29292718 (-)



Homology
more
  • Human Ortholog
    SLC25A46, solute carrier family 25 member 46
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC25A46, solute carrier family 25 member 46
  • Synonyms
    HMSN6B, PCH1E
  • Links
    NCBI Gene ID: 91137
    neXtProt AC: NX_Q96AG3
    UniProt: Q96AG3

  • Chr Location
    5q22.1; chr5:110738136-110765161 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc25a46 mouse models; 1 with human SLC25A46 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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.
Homozygous null mice show ataxia, cerebellum, thymus and spleen hypoplasia, reduced Purkinje cell dendritic arborization and synaptic connectivity, altered cerebellar and retinal cytoarchitecture, optic nerve atrophy, astrogliosis and microgliosis, neuromuscular junction defects and premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    38
  • GO References
    9
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
    862
  • Tissues
    118
  • cDNA Data
    21
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67453 NCBI Gene Model | MGI Sequence Detail 30369 C57BL/6J ±  kb
    transcript NM_026165 RefSeq | MGI Sequence Detail 4403 C57BL/6  
    polypeptide Q9CQS4 UniProt | EBI | MGI Sequence Detail 418 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000029734 mitochondrial outer membrane protein SLC25A46
      (term hierarchy)
    • InterPro Domains
      IPR023395 Mitochondrial carrier domain superfamily
      IPR018108 Mitochondrial substrate/solute carrier
      IPR039158 Solute carrier family 25 member 46
    • GlyGen
      Q9CQS4 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 21
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2147212
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 9
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    10/22/2024
    MGI 6.24     		The Jackson Laboratory