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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
  • Gene Overview
    MyGene.info: SMC3
Location & Maps
more
  • Sequence Map
    Chr19:53600398-53645833 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      45436 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMC3, structural maintenance of chromosomes 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMC3, structural maintenance of chromosomes 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1
  • Links
    NCBI Gene ID: 9126
    neXtProt AC: NX_Q9UQE7

  • Chr Location
    10q25; chr10:110567691-110604634 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3974
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SMC3
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SMC3 associations

Human Disease Mouse Models
       Cornelia De Lange Syndrome 3; CDLS3   OMIM: 610759
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 1 allele in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number.
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 OTTMUSG00000024643 VEGA Gene Model | MGI Sequence Detail 45436 C57BL/6J ±  kb
transcript OTTMUST00000060579 VEGA | MGI Sequence Detail 4851 Not Applicable  
polypeptide OTTMUSP00000029555 VEGA | MGI Sequence Detail 1217 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    164 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000015272 structural maintenance of chromosomes protein 3
  • PDB
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR003395 RecF/RecN/SMC, N-terminal
    IPR010935 SMCs flexible hinge
    IPR024704 Structural maintenance of chromosomes protein
    IPR029685 Structural maintenance of chromosomes protein 3
Molecular
Reagents
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  • All nucleic 325
    Genomic 2
    cDNA 323

    Microarray probesets 4
Other
Accession IDs
less
MGI:1261435
References
more
  • Summaries
    All 61
    Developmental Gene Expression 12
    Gene Ontology 13
    Phenotypes 12
  • 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:225710 Tuck E, et al., A gene expression resource generated by genome-wide lacZ profiling in the mouse. Dis Model Mech. 2015 Nov 1;8(11):1467-78

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
05/17/2016
MGI 6.03
The Jackson Laboratory