Human Gene SMC2 (ENST00000374793.8_4) from GENCODE V47lift37
  Description: structural maintenance of chromosomes 2, transcript variant 3 (from RefSeq NM_006444.3)
Gencode Transcript: ENST00000374793.8_4
Gencode Gene: ENSG00000136824.19_8
Transcript (Including UTRs)
   Position: hg19 chr9:106,856,590-106,903,700 Size: 47,111 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg19 chr9:106,857,666-106,901,596 Size: 43,931 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:106,856,590-106,903,700)mRNA (may differ from genome)Protein (1197 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMC2_HUMAN
DESCRIPTION: RecName: Full=Structural maintenance of chromosomes protein 2; Short=SMC protein 2; Short=SMC-2; AltName: Full=Chromosome-associated protein E; Short=hCAP-E; AltName: Full=XCAP-E homolog;
FUNCTION: Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.
SUBUNIT: Forms a heterodimer with SMC4. Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: BRRN1/CAPH, CNAP1/CAPD2 and CAPG.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDC2, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.
DOMAIN: The hinge domain, which separates the large intramolecular coiled coil regions, allows the heterodimerization with SMC4, forming a V-shaped heterodimer (By similarity).
SIMILARITY: Belongs to the SMC family. SMC2 subfamily.
SEQUENCE CAUTION: Sequence=AAC72360.1; Type=Frameshift; Positions=890, 908; Sequence=AAF29579.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SMC2
Diseases sorted by gene-association score: pleural empyema (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.90 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 129.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.00230-0.361 Picture PostScript Text
3' UTR -465.102104-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003395 - RecF/RecN/SMC
IPR024704 - SMC
IPR010935 - SMC_hinge

Pfam Domains:
PF02463 - RecF/RecN/SMC N terminal domain
PF06470 - SMC proteins Flexible Hinge Domain
PF13175 - AAA ATPase domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
75553 - Smc hinge domain
57997 - Tropomyosin

ModBase Predicted Comparative 3D Structure on O95347
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0007049 cell cycle
GO:0007076 mitotic chromosome condensation
GO:0010032 meiotic chromosome condensation
GO:0030261 chromosome condensation
GO:0045132 meiotic chromosome segregation
GO:0051276 chromosome organization
GO:0051301 cell division
GO:0051383 kinetochore organization

Cellular Component:
GO:0000228 nuclear chromosome
GO:0000793 condensed chromosome
GO:0000796 condensin complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AL833191 - Homo sapiens mRNA; cDNA DKFZp667M185 (from clone DKFZp667M185).
BC055081 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:6708852), partial cds.
BC061906 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:4363420), partial cds.
AK307752 - Homo sapiens cDNA, FLJ97700.
BC017845 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:4699860), partial cds.
AK292599 - Homo sapiens cDNA FLJ78259 complete cds.
AF092563 - Homo sapiens chromosome-associated protein-E (hCAP-E) mRNA, complete cds.
JD312664 - Sequence 293688 from Patent EP1572962.
AY739716 - Homo sapiens chromosome-associated protein E mRNA, complete cds.
BC130385 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone MGC:163257 IMAGE:40146416), complete cds.
BC144163 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone MGC:177700 IMAGE:9052683), complete cds.
JD491666 - Sequence 472690 from Patent EP1572962.
BC071750 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:6654356), partial cds.
AK001485 - Homo sapiens cDNA FLJ10623 fis, clone NT2RP2005520, highly similar to Structural maintenance of chromosome 2-like 1 protein.
BC032705 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:5498410), partial cds.
BC107891 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:6622257), partial cds.
BC003396 - Homo sapiens structural maintenance of chromosomes 2, mRNA (cDNA clone IMAGE:3448562), partial cds.
AK000955 - Homo sapiens cDNA FLJ10093 fis, clone HEMBA1002363, highly similar to Structural maintenance of chromosome 2-like 1 protein.
AJ420415 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1286919.
AF113673 - Homo sapiens clone FLB1433 PRO0324 mRNA, complete cds.
U46075 - Human mitotic chromosome condensation protein mRNA, partial cds.
JD061441 - Sequence 42465 from Patent EP1572962.
AJ420453 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1271944.
AK124957 - Homo sapiens cDNA FLJ42967 fis, clone BRSTN2016678.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95347 (Reactome details) participates in the following event(s):

R-HSA-2172666 RB1 binds condensin II
R-HSA-2288097 Condensin II complex binds H4K20me1-containing nucleosomes
R-HSA-2429719 MCPH1 sequesters condensin II
R-HSA-2514854 CDK1 phosphorylates condensin I
R-HSA-2529020 CK2 phosphorylates condensin I subunits
R-HSA-2529015 Dephosphorylation of CK2-modified condensin I
R-HSA-2294600 CDK1 phosphorylates condensin II subunit NCAPD3
R-HSA-2294580 PLK1 hyperphosphorylates Condensin II complex
R-HSA-2294590 PLK1 binds phosphorylated condensin II complex
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-2514853 Condensation of Prometaphase Chromosomes
R-HSA-68875 Mitotic Prophase
R-HSA-68877 Mitotic Prometaphase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: CAPE, ENST00000374793.1, ENST00000374793.2, ENST00000374793.3, ENST00000374793.4, ENST00000374793.5, ENST00000374793.6, ENST00000374793.7, NM_006444, O95347, PRO0324, Q6IEE0, Q9P1P2, SMC2L1, SMC2_HUMAN, uc318lvl.1, uc318lvl.2
UCSC ID: ENST00000374793.8_4
RefSeq Accession: NM_006444.3
Protein: O95347 (aka SMC2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.