SMC3 (structural maintenance of chromosomes 3)

2003-02-01  

Identity

HGNC
SMC3
LOCATION
10q25.2
LOCUSID
9126
ALIAS
BAM,BMH,CDLS3,CSPG6,HCAP,SMC3L1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
186140532008Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast.170
172739692007Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.168
182995612008Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers.167
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
254143062014Characterization of a DNA exit gate in the human cohesin ring.67
160434812005RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.66
250061312014Genetic alterations of the cohesin complex genes in myeloid malignancies.56
189969222009Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.47
243354982014Mutations in the cohesin complex in acute myeloid leukemia: clinical and prognostic implications.44
184429752008Regulation of intra-S phase checkpoint by ionizing radiation (IR)-dependent and IR-independent phosphorylation of SMC3.30

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-(structural-maintenance-of-chromosomes-3)