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Smc3 Gene Detail
Summary
  • Symbol
    Smc3
  • Name
    structural maintenance of chromosomes 3
  • Synonyms
    Bamacan, Cspg6, Mmip1, SmcD
  • Feature Type
    protein coding gene
  • IDs
    MGI:1339795
    NCBI Gene: 13006
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:53588827-53634262 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 48.13 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    164 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1339795
 protein coding gene Chr19:53588827-53634264 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025248
 protein coding gene Chr19:53753390-53803577 (+)
A/J MGP_AJ_G0025224
 protein coding gene Chr19:51105781-51153906 (+)
AKR/J MGP_AKRJ_G0025193
 protein coding gene Chr19:52712406-52767774 (+)
BALB/cJ MGP_BALBcJ_G0025219
 protein coding gene Chr19:51190959-51238379 (+)
C3H/HeJ MGP_C3HHeJ_G0024979
 protein coding gene Chr19:52930984-52977939 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025662
 protein coding gene Chr19:55052900-55107819 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023074
 protein coding gene Chr19:50098506-50144727 (+)
CAST/EiJ MGP_CASTEiJ_G0024444
 protein coding gene Chr19:52899352-52946712 (+)
CBA/J MGP_CBAJ_G0024959
 protein coding gene Chr19:57782397-57833646 (+)
DBA/2J MGP_DBA2J_G0025091
 protein coding gene Chr19:50915796-50963719 (+)
FVB/NJ MGP_FVBNJ_G0025052
 protein coding gene Chr19:50625299-50671806 (+)
LP/J MGP_LPJ_G0025177
 protein coding gene Chr19:53619594-53689060 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025085
 protein coding gene Chr19:57236990-57287310 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025720
 protein coding gene Chr19:52910427-52965257 (+)
PWK/PhJ MGP_PWKPhJ_G0024192
 protein coding gene Chr19:50832701-50864977 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023995
 protein coding gene Chr19:51577099-51625340 (+)
WSB/EiJ MGP_WSBEiJ_G0024514
 protein coding gene Chr19:53043113-53090317 (+)



Homology
more
  • Human Ortholog
    SMC3, structural maintenance of chromosomes 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMC3, structural maintenance of chromosomes 3
  • Synonyms
    BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1
  • Links
    NCBI Gene ID: 9126
    neXtProt AC: NX_Q9UQE7
    UniProt: Q9UQE7

  • Chr Location
    10q25.2; chr10:110567684-110606048 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Smc3 mouse models; 3 with human SMC3 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    29 phenotypes from 3 alleles in 7 genetic backgrounds
    25 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 inactivation of this gene leads to complete embryonic lethality. Mice heterozygous for a null allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number. Mice heterozygous for a different null allele show abnormal dendrite and synapse formation in the cerebral cortex and increased anxiety-related behavior.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    20
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
    904
  • Tissues
    107
  • cDNA Data
    324
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13006 NCBI Gene Model | MGI Sequence Detail 45436 C57BL/6J ±  kb
    transcript NM_007790 RefSeq | MGI Sequence Detail 4851 C57BL/6  
    polypeptide Q9CW03 UniProt | EBI | MGI Sequence Detail 1217 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 327
      Genomic 2
      cDNA 324
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1261435
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 16
      Diseases 1
      Gene Ontology 20
      Phenotypes 25
    • Earliest
      J:46395 Gupta K, et al., Mmip1: a novel leucine zipper protein that reverses the suppressive effects of Mad family members on c-myc. Oncogene. 1998 Mar 5;16(9):1149-59
    • Latest
      J:326987 Meyer AE, et al., Combinatorial genetics reveals the Dock1-Rac2 axis as a potential target for the treatment of NPM1;Cohesin mutated AML. Leukemia. 2022 Aug;36(8):2032-2041
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory