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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
  • Chromosome-Associated Protein E 3 4
  • XCAP-E Homolog 3 4
  • SMC Protein 2 3 4
  • SMC2L1 3 4
  • 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
  • HCAP-E 4
  • CAP-E 3

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

Entrez Gene Summary for SMC2 Gene

  • Members of the structural maintenance of chromosomes, or SMC, family (e.g., SMC1A; MIM 300040) are critical for mitotic chromosome condensation in frogs and for DNA repair in mammals.[supplied by OMIM, Nov 2010]

GeneCards Summary for SMC2 Gene

SMC2 (Structural Maintenance Of Chromosomes 2) is a Protein Coding gene. Diseases associated with SMC2 include smith-mccort dysplasia 2. Among its related pathways are Mitotic Prophase and Cell Cycle, Mitotic. GO annotations related to this gene include protein heterodimerization activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC2 Gene

Genomics for SMC2 Gene

Regulatory Elements for SMC2 Gene

Promoters for SMC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMC2 Gene

Chromosome:
9
Start:
104,093,848 bp from pter
End:
104,141,419 bp from pter
Size:
47,572 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; Positions=890, 908; 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

Proteomics data for SMC2 Gene at MOPED

Post-translational modifications for SMC2 Gene

  • Ubiquitination at Lys 12, Lys 68, Lys 114, Lys 523, Lys 580, Lys 958, and Lys 1178
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SMC2 (SMC2L1)

No data available for DME Specific Peptides for SMC2 Gene

Domains & Families for SMC2 Gene

Gene Families for SMC2 Gene

Protein Domains for SMC2 Gene

Suggested Antigen Peptide Sequences for SMC2 Gene

Graphical View of Domain Structure for InterPro Entry

O95347

UniProtKB/Swiss-Prot:

SMC2_HUMAN :
  • The 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 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.
genes like me logo Genes that share phenotypes with SMC2: view

Animal Models for SMC2 Gene

MGI Knock Outs for SMC2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SMC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 condensins association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMC2 Gene COMPARTMENTS Subcellular localization image for SMC2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000796 condensin complex IDA 10958694
GO:0005634 nucleus IDA 12589063
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IDA 10958694
GO:0070062 extracellular exosome IDA 19056867
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
1 Qiagen pathway for SMC2 Gene

Gene Ontology (GO) - Biological Process for SMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010032 meiotic chromosome condensation IEA --
GO:0051301 cell division 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
genes like me logo Genes that share compounds with SMC2: view

Transcripts for SMC2 Gene

Unigene Clusters for SMC2 Gene

Structural maintenance of chromosomes 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SMC2

Expression for SMC2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for SMC2 Gene



SOURCE GeneReport for Unigene cluster for SMC2 Gene Hs.119023

genes like me logo Genes that share expression patterns with SMC2: view

Protein tissue co-expression partners for SMC2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SMC2 35
  • 91.86 (n)
  • 93.03 (a)
SMC2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC2 35
  • 93 (n)
  • 95.89 (a)
SMC2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smc2 35
  • 88.82 (n)
  • 92.18 (a)
Smc2 16
Smc2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMC2 35
  • 99.69 (n)
  • 99.83 (a)
SMC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smc2 35
  • 88.8 (n)
  • 93.28 (a)
oppossum
(Monodelphis domestica)
Mammalia SMC2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMC2 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMC2 35
  • 71.27 (n)
  • 67.6 (a)
SMC2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMC2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486893 35
  • 76.12 (n)
  • 82.49 (a)
Str.234 35
African clawed frog
(Xenopus laevis)
Amphibia XCAP-E 35
zebrafish
(Danio rerio)
Actinopterygii hmzeh1628 35
smc2 35
  • 69 (n)
  • 75.08 (a)
smc2 36
  • 72 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13481 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011425 35
  • 51.44 (n)
  • 48.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta SMC2 35
  • 51.12 (n)
  • 41.32 (a)
SMC2 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mix-1 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR236W 35
  • 47.49 (n)
  • 39.14 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16005g 35
  • 48.95 (n)
  • 38.02 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC2 35
  • 48.75 (n)
  • 38.17 (a)
SMC2 36
  • 36 (a)
OneToOne
SMC2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons SMC2 35
  • 54.63 (n)
  • 46.29 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4594 35
rice
(Oryza sativa)
Liliopsida Os01g0904400 35
  • 54.57 (n)
  • 47.71 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.20443 35
corn
(Zea mays)
Liliopsida Zm.10261 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2681 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07679 35
  • 48.36 (n)
  • 41.55 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cut14 35
  • 48.64 (n)
  • 37.69 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3109 36
  • 51 (a)
OneToOne
Species with no ortholog for SMC2:
  • 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)

Paralogs for SMC2 Gene

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

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

No data available for Paralogs for SMC2 Gene

Variants for SMC2 Gene

Sequence variations from dbSNP and Humsavar for SMC2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs4562395 - 104,132,042(-) TTGTA(A/C/G/T)AAAAT reference, missense
rs15532 -- 104,139,596(+) ACCCG(A/C)TTCTA utr-variant-3-prime
rs965966 -- 104,108,879(-) tctgg(A/G)gtata intron-variant
rs980249 -- 104,126,236(-) cccca(A/G)ccttt intron-variant
rs483377 -- 104,140,018(-) ATACT(C/T)ACACA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv831676 CNV Gain 17160897
nsv893668 CNV Gain 21882294
esv26670 CNV Loss 19812545
esv2738869 CNV Deletion 23290073

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)

Relevant External Links for SMC2 Gene

HapMap Linkage Disequilibrium report
SMC2

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

Disorders for SMC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMC2 Gene - From: OMIM

Disorder Aliases PubMed IDs
smith-mccort dysplasia 2
  • smc2
- elite association - COSMIC cancer census association via MalaCards
Search SMC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMC2

Genetic Association Database (GAD)
SMC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Identification of two distinct human SMC protein complexes involved in mitotic chromosome dynamics. (PMID: 9789013) Schmiesing J.A. … Yokomori K. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 67
  2. Condensin mutations and abnormal chromosomal structures in pyothorax-associated lymphoma. (PMID: 17488335) Ham M.F. … Aozasa K. (Cancer Sci. 2007) 3 23
  3. In vitro and in vivo interactions of DNA ligase IV with a subunit of the condensin complex. (PMID: 12589063) Przewloka M.R. … Cary R.B. (Mol. Biol. Cell 2003) 3 23
  4. 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 J.A. … Yokomori K. (Mol. Cell. Biol. 2000) 3 23
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for SMC2 Gene

Sources for SMC2 Gene

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