SMC3 (structural maintenance of chromosomes 3)

2003-02-01  

Identity

HGNC
LOCATION
10q25.2
LOCUSID
ALIAS
BAM,BMH,CDLS3,CSPG6,HCAP,SMC3L1
FUSION GENES

Other Information

Locus ID:

NCBI: 9126
MIM: 606062
HGNC: 2468
Ensembl: ENSG00000108055

Variants:

dbSNP: 9126
ClinVar: 9126
TCGA: ENSG00000108055
COSMIC: SMC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108055ENST00000361804Q9UQE7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Cell cycleKEGGhsa04110
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Establishment of Sister Chromatid CohesionREACTOMER-HSA-2468052
M PhaseREACTOMER-HSA-68886
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813
Mitotic Telophase/CytokinesisREACTOMER-HSA-68884
Cohesin Loading onto ChromatinREACTOMER-HSA-2470946
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382978322024Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.1
382978322024Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.1
376411312023SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.0
380174792023RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.1
376411312023SMC3 epigenetic silencing regulates Rab27a expression and drives pancreatic cancer progression.0
380174792023RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma.1
355873782022Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.7
355873782022Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia model.7
346212632021Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.4
346212632021Cohesin Core Complex Gene Dosage Contributes to Germinal Center Derived Lymphoma Phenotypes and Outcomes.4
303233572019SMC3 protein levels impact on karyotype and outcome in acute myeloid leukemia.5
303233572019SMC3 protein levels impact on karyotype and outcome in acute myeloid leukemia.5
294525782018Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.2
298523532018Hydrogen gas inhibits lung cancer progression through targeting SMC3.42
294525782018Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.2

Citation

Dessen P

SMC3 (structural maintenance of chromosomes 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40175/smc3