Aliases for SMC2 Gene

Aliases for SMC2 Gene

  • Structural Maintenance Of Chromosomes 2 2 3 5
  • SMC2 (Structural Maintenance Of Chromosomes 2, Yeast)-Like 1 2 3
  • Structural Maintenance Of Chromosomes Protein 2 3 4
  • Chromosome-Associated Protein E 3 4
  • XCAP-E Homolog 3 4
  • SMC Protein 2 3 4
  • SMC2L1 3 4
  • HCAP-E 2 4
  • CAP-E 2 3
  • SMC-2 3 4
  • CAPE 3 4
  • Structural Maintenance Of Chromosomes (SMC) Family Member, Chromosome-Associated Protein E 3
  • SMC2 Structural Maintenance Of Chromosomes 2-Like 1 (Yeast) 2
  • SMC2 5

External Ids for SMC2 Gene

Previous HGNC Symbols for SMC2 Gene

  • SMC2L1

Previous GeneCards Identifiers for SMC2 Gene

  • GC09P105896
  • GC09P106856
  • GC09P076458

Summaries for SMC2 Gene

GeneCards Summary for SMC2 Gene

SMC2 (Structural Maintenance Of Chromosomes 2) is a Protein Coding gene. Diseases associated with SMC2 include Pleural Empyema and Cornelia De Lange Syndrome. Among its related pathways are ATM Pathway and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is SMC1B.

UniProtKB/Swiss-Prot Summary for SMC2 Gene

  • 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.

Gene Wiki entry for SMC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMC2 Gene

Genomics for SMC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J104091 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 633 0.0 -31 5.3 CREB1 GATAD2A PRDM10 ZNF629 REST ZNF692 POLR2A LARP7 GABPA PRDM1 SMC2 SMC2-AS1 piR-38351-496
GH09J104231 Enhancer 0.7 FANTOM5 Ensembl ENCODE 27.7 +139.3 139269 2.4 ATF2 MAFK piR-32861-081 piR-49423-287 SMC2 FJ601684-463 OR13F1
GH09J104074 Enhancer 0.8 Ensembl ENCODE 14.9 -18.3 -18322 3.7 CEBPB SP1 YY1 ZBTB33 JUND NFIC FOSL2 CEBPG BHLHE40 ATF4 SMC2 piR-38351-496 piR-42491-235 LOC101928523
GH09J103990 Enhancer 0.5 Ensembl 14.6 -102.5 -102459 1.4 TEAD4 POLR2A JUNB IRF4 BATF TBP ATF2 SMC2 RF00994-1148 LOC105376193 lnc-OR13C4-8 lnc-SMC2-3 CYLC2
GH09J104081 Enhancer 0.3 Ensembl 5.7 -11.4 -11359 1.2 SPI1 piR-38351-496 SMC2 SMC2-AS1 LOC101928523
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMC2

Top Transcription factor binding sites by QIAGEN in the SMC2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • GATA-6
  • RelA

Genomic Locations for SMC2 Gene

Genomic Locations for SMC2 Gene
chr9:104,093,760-104,141,419
(GRCh38/hg38)
Size:
47,660 bases
Orientation:
Plus strand
chr9:106,856,541-106,903,700
(GRCh37/hg19)
Size:
47,160 bases
Orientation:
Plus strand

Genomic View for SMC2 Gene

Genes around SMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC2 Gene

Proteins for SMC2 Gene

  • Protein details for SMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95347-SMC2_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 2
    Protein Accession:
    O95347
    Secondary Accessions:
    • Q6IEE0
    • Q9P1P2

    Protein attributes for SMC2 Gene

    Size:
    1197 amino acids
    Molecular mass:
    135656 Da
    Quaternary structure:
    • 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. Interacts with BRD4 (isoform B), leading to insulate chromatin from DNA damage response pathway.
    SequenceCaution:
    • Sequence=AAC72360.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF29579.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMC2 Gene

    Alternative splice isoforms for SMC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMC2 Gene

Post-translational modifications for SMC2 Gene

  • Ubiquitination at Lys12, Lys68, Lys114, Lys523, Lys580, Lys958, and Lys1178
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMC2 Gene

Domains & Families for SMC2 Gene

Protein Domains for SMC2 Gene

InterPro:
Blocks:
  • SMCs flexible hinge
ProtoNet:

Suggested Antigen Peptide Sequences for SMC2 Gene

GenScript: Design optimal peptide antigens:
  • SMC2 protein (A0JLM9_HUMAN)
  • SMC2 protein (B7ZLZ7_HUMAN)
  • SMC2 protein (Q05BV1_HUMAN)
  • SMC2 protein (Q05D74_HUMAN)
  • SMC2 protein (Q32Q15_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95347

UniProtKB/Swiss-Prot:

SMC2_HUMAN :
  • The SMC hinge domain, which separates the large intramolecular coiled coil regions, allows the heterodimerization with SMC4, forming a V-shaped heterodimer.
  • Belongs to the SMC family. SMC2 subfamily.
Domain:
  • The SMC hinge domain, which separates the large intramolecular coiled coil regions, allows the heterodimerization with SMC4, forming a V-shaped heterodimer.
Family:
  • Belongs to the SMC family. SMC2 subfamily.
genes like me logo Genes that share domains with SMC2: view

Function for SMC2 Gene

Molecular function for SMC2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SMC2 Gene

Gene Ontology (GO) - Molecular Function for SMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003697 single-stranded DNA binding IEA --
GO:0005515 protein binding IPI 9789013
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with SMC2: view
genes like me logo Genes that share phenotypes with SMC2: view

Animal Models for SMC2 Gene

MGI Knock Outs for SMC2:
  • Smc2 Smc2<tm1.2Itl>

Animal Model Products

  • Taconic Biosciences Mouse Models for SMC2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMC2 Gene

Localization for SMC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC2 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMC2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 10958694
GO:0000793 condensed chromosome IDA 12589063
GO:0000796 condensin complex IDA 10958694
GO:0000797 condensin core heterodimer IDA 9789013
GO:0005634 nucleus IEA,IDA 12589063
genes like me logo Genes that share ontologies with SMC2: view

Pathways & Interactions for SMC2 Gene

genes like me logo Genes that share pathways with SMC2: view

Pathways by source for SMC2 Gene

2 BioSystems pathways for SMC2 Gene
1 GeneGo (Thomson Reuters) pathway for SMC2 Gene
  • Cell cycle_Chromosome condensation in prometaphase
1 Qiagen pathway for SMC2 Gene
  • ATM Pathway
2 Cell Signaling Technology pathways for SMC2 Gene

Gene Ontology (GO) - Biological Process for SMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007076 mitotic chromosome condensation TAS,IDA 11136719
GO:0010032 meiotic chromosome condensation IEA --
GO:0030261 chromosome condensation IEA --
GO:0045132 meiotic chromosome segregation IEA --
genes like me logo Genes that share ontologies with SMC2: view

No data available for SIGNOR curated interactions for SMC2 Gene

Drugs & Compounds for SMC2 Gene

(4) Drugs for SMC2 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
KPT-185 Pharma CRM1 inhibitor,selective and irrversible 0
KPT-276 Pharma 0
KPT-330 Pharma 0
Verdinexor (KPT-335) Pharma 0

(4) ApexBio Compounds for SMC2 Gene

Compound Action Cas Number
KPT-185 CRM1 inhibitor,selective and irrversible 1333151-73-7
KPT-276 1421919-75-6
KPT-330 1393477-72-9
Verdinexor (KPT-335) 1392136-43-4
genes like me logo Genes that share compounds with SMC2: view

Drug Products

Transcripts for SMC2 Gene

mRNA/cDNA for SMC2 Gene

4 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMC2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMC2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
SP1:
SP2:
SP3:
SP4: - - -
SP5:
SP6: - - - - - -
SP7: - - - - -
SP8: - - - -
SP9:
SP10:
SP11:
SP12:
SP13: - - - - - - -
SP14:
SP15:
SP16: -

ExUns: 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12: -
SP13:
SP14:
SP15:
SP16:

Relevant External Links for SMC2 Gene

GeneLoc Exon Structure for
SMC2

Expression for SMC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMC2 Gene

This gene is overexpressed in Breast (25.2), Bone (18.9), Heart (9.4), and Serum (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMC2 Gene



Protein tissue co-expression partners for SMC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMC2

SOURCE GeneReport for Unigene cluster for SMC2 Gene:

Hs.119023

Evidence on tissue expression from TISSUES for SMC2 Gene

  • Nervous system(4.4)
  • Lymph node(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with SMC2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMC2 Gene

Orthologs for SMC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SMC2 30 31
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SMC2 30 31
  • 93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMC2 30 31
  • 91.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smc2 30 17 31
  • 88.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smc2 30
  • 88.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia SMC2 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SMC2 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SMC2 30 31
  • 71.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SMC2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486893 30
  • 76.12 (n)
Str.234 30
African clawed frog
(Xenopus laevis)
Amphibia XCAP-E 30
Zebrafish
(Danio rerio)
Actinopterygii smc2 30 31
  • 69 (n)
OneToOne
hmzeh1628 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13481 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011425 30
  • 51.44 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta SMC2 30 31
  • 51.12 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mix-1 31
  • 31 (a)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16005g 30
  • 48.95 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC2 30 31 33 33
  • 48.75 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR236W 30
  • 47.49 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SMC2 30
  • 54.63 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0904400 30
  • 54.57 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.4594 30
Wheat
(Triticum aestivum)
Liliopsida Ta.20443 30
Corn
(Zea mays)
Liliopsida Zm.10261 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3109 31
  • 51 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cut14 30
  • 48.64 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU07679 30
  • 48.36 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2681 30
Species where no ortholog for SMC2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SMC2 Gene

ENSEMBL:
Gene Tree for SMC2 (if available)
TreeFam:
Gene Tree for SMC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMC2: view image

Paralogs for SMC2 Gene

Paralogs for SMC2 Gene

(1) SIMAP similar genes for SMC2 Gene using alignment to 10 proteins:

  • SMC2_HUMAN
  • A0JLM9_HUMAN
  • B7ZLZ7_HUMAN
  • Q05BV1_HUMAN
  • Q05D74_HUMAN
  • Q32Q15_HUMAN
  • Q5T821_HUMAN
  • Q6IPS5_HUMAN
  • Q6P712_HUMAN
  • Q7Z2X1_HUMAN
genes like me logo Genes that share paralogs with SMC2: view

Variants for SMC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMC2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
739502 Benign: not provided 104,102,152(+) C/T MISSENSE_VARIANT
770389 Benign: not provided 104,118,234(+) G/T MISSENSE_VARIANT
778437 Benign: not provided 104,134,518(+) A/G MISSENSE_VARIANT
787626 Likely Benign: not provided 104,098,498(+) A/C MISSENSE_VARIANT
787706 Benign: not provided 104,111,667(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SMC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMC2 Gene

Variant ID Type Subtype PubMed ID
esv26670 CNV loss 19812545
esv2738869 CNV deletion 23290073
nsv615049 CNV gain 21841781
nsv615064 CNV gain 21841781
nsv831676 CNV gain 17160897

Variation tolerance for SMC2 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.76; 57.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC2 Gene

Disorders for SMC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pleural empyema
  • abscess of pleural cavity
cornelia de lange syndrome
  • cdls
- elite association - COSMIC cancer census association via MalaCards
Search SMC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMC2

genes like me logo Genes that share disorders with SMC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMC2 Gene

Publications for SMC2 Gene

  1. A human condensin complex containing hCAP-C-hCAP-E and CNAP1, a homolog of Xenopus XCAP-D2, colocalizes with phosphorylated histone H3 during the early stage of mitotic chromosome condensation. (PMID: 10958694) Schmiesing JA … Yokomori K (Molecular and cellular biology 2000) 3 4 23
  2. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. (PMID: 9789013) Schmiesing JA … Yokomori K (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  3. The bromodomain protein Brd4 insulates chromatin from DNA damage signalling. (PMID: 23728299) Floyd SR … Yaffe MB (Nature 2013) 3 4
  4. Condensin mutations and abnormal chromosomal structures in pyothorax-associated lymphoma. (PMID: 17488335) Ham MF … Aozasa K (Cancer science 2007) 3 23
  5. The evolution of SMC proteins: phylogenetic analysis and structural implications. (PMID: 14660695) Cobbe N … Heck MM (Molecular biology and evolution 2004) 3 4

Products for SMC2 Gene

Sources for SMC2 Gene