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Aliases for SMC6 Gene

Aliases for SMC6 Gene

  • Structural Maintenance Of Chromosomes 6 2 3 5
  • SMC Protein 6 3 4
  • SMC6L1 3 4
  • SMC-6 3 4
  • HSMC6 3 4
  • SMC6 Structural Maintenance Of Chromosomes 6-Like 1 (Yeast) 2
  • SMC6 Structural Maintenance Of Chromosomes 6-Like 1 3
  • Structural Maintenance Of Chromosomes Protein 6 3

External Ids for SMC6 Gene

Previous HGNC Symbols for SMC6 Gene

  • SMC6L1

Previous GeneCards Identifiers for SMC6 Gene

  • GC02M017845

Summaries for SMC6 Gene

GeneCards Summary for SMC6 Gene

SMC6 (Structural Maintenance Of Chromosomes 6) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and SUMOylation.

UniProtKB/Swiss-Prot for SMC6 Gene

  • Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541).

Gene Wiki entry for SMC6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC6 Gene

Genomics for SMC6 Gene

Regulatory Elements for SMC6 Gene

Enhancers for SMC6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G017821 1.2 Ensembl ENCODE dbSUPER 12.4 -21.9 -21921 2.2 MTA2 NR2F1 TRIM22 GATAD2B EBF1 DPF2 TBX21 EP300 SMARCA4 EED GEN1 SMC6 GC02M017816 MSGN1
GH02G017830 1.2 Ensembl ENCODE 12.2 -30.6 -30559 0.8 ELF3 RB1 WRNIP1 ZNF48 ZSCAN9 RAD21 GLIS2 ZNF143 IKZF2 THAP11 SMC6 GEN1 GC02M017816 ZPAXP
GH02G017798 1.3 Ensembl ENCODE dbSUPER 10.2 +0.3 287 3.4 SOX13 CTCF TBP MXI1 SAP130 WRNIP1 ARID4B MAX FEZF1 EBF1 GEN1 SMC6 GC02M017752
GH02G017642 1.3 Ensembl ENCODE 10.1 +155.6 155631 4.0 PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 FOS DEK GEN1 VSNL1 SMC6 PIR36041
GH02G017750 1.1 ENCODE 9 +47.3 47332 5.9 PKNOX1 ZFP64 WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF143 ZNF207 FOS GEN1 SMC6 PIR36041
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMC6 on UCSC Golden Path with GeneCards custom track

Promoters for SMC6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000113426 -171 2801 PKNOX1 ZFP64 WRNIP1 ARID4B SIN3A YY1 SLC30A9 ZNF143 ZNF207 FOS

Genomic Location for SMC6 Gene

Chromosome:
2
Start:
17,663,812 bp from pter
End:
17,800,242 bp from pter
Size:
136,431 bases
Orientation:
Minus strand

Genomic View for SMC6 Gene

Genes around SMC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC6 Gene

Proteins for SMC6 Gene

  • Protein details for SMC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SB8-SMC6_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 6
    Protein Accession:
    Q96SB8
    Secondary Accessions:
    • A8K8Q6
    • D6W518
    • Q05BV4
    • Q9H0X3
    • Q9H6M0

    Protein attributes for SMC6 Gene

    Size:
    1091 amino acids
    Molecular mass:
    126326 Da
    Quaternary structure:
    • Forms a heterodimer with SMC5 (PubMed:11408570). Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3 (PubMed:18086888). Interacts with NSMCE1 (PubMed:14701739). Interacts with NSMCE2 (PubMed:16055714). Interacts with SLF1 (PubMed:25931565). Interacts with SLF2 (PubMed:25931565). Interacts with RAD18 (PubMed:25931565).
    • (Microbial infection) SMC5-SMC6 complex interacts with Hepatitis B X protein.
    SequenceCaution:
    • Sequence=AAH32675.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB15236.1; Type=Frameshift; Positions=718; Evidence={ECO:0000305};

    Alternative splice isoforms for SMC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMC6 Gene

Post-translational modifications for SMC6 Gene

No data available for DME Specific Peptides for SMC6 Gene

Domains & Families for SMC6 Gene

Protein Domains for SMC6 Gene

Suggested Antigen Peptide Sequences for SMC6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96SB8

UniProtKB/Swiss-Prot:

SMC6_HUMAN :
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V-shaped heterodimer.
  • Belongs to the SMC family. SMC6 subfamily.
Domain:
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V-shaped heterodimer.
Family:
  • Belongs to the SMC family. SMC6 subfamily.
genes like me logo Genes that share domains with SMC6: view

Function for SMC6 Gene

Molecular function for SMC6 Gene

UniProtKB/Swiss-Prot Function:
Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. SMC5-SMC6 complex may prevent transcription of episomal DNA, such as circular viral DNA genome (PubMed:26983541).

Gene Ontology (GO) - Molecular Function for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11408570
GO:0005524 ATP binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 25931565
genes like me logo Genes that share ontologies with SMC6: view
genes like me logo Genes that share phenotypes with SMC6: view

Animal Model Products

CRISPR Products

miRNA for SMC6 Gene

miRTarBase miRNAs that target SMC6

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMC6 Gene

Localization for SMC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC6 Gene

Nucleus. Nucleus speckle. Chromosome. Nucleus, PML body. Chromosome, telomere. Note=Colocalizes with SMC5 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (By similarity). Localizes to PML nuclear bodies in ALT cell lines (PubMed:17589526). Associates with chromatin (PubMed:25931565). Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565). Localizes in interchromatin granule clusters (PubMed:11408570). {ECO:0000250 UniProtKB:Q924W5, ECO:0000269 PubMed:11408570, ECO:0000269 PubMed:17589526, ECO:0000269 PubMed:25931565}.

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 SMC6 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA,IDA 17589526
GO:0000803 sex chromosome ISS --
GO:0005622 intracellular IDA --
GO:0005634 nucleus IEA,IDA 11408570
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with SMC6: view

Pathways & Interactions for SMC6 Gene

genes like me logo Genes that share pathways with SMC6: view

Gene Ontology (GO) - Biological Process for SMC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IMP 17589526
GO:0000724 double-strand break repair via homologous recombination IEA --
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 11408570
genes like me logo Genes that share ontologies with SMC6: view

No data available for SIGNOR curated interactions for SMC6 Gene

Drugs & Compounds for SMC6 Gene

(4) Drugs for SMC6 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 SMC6 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 SMC6: view

Drug Products

Transcripts for SMC6 Gene

Unigene Clusters for SMC6 Gene

Structural maintenance of chromosomes 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMC6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: -
SP2:
SP3: -
SP4: -
SP5: - -
SP6:
SP7:
SP8:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29a · 29b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for SMC6 Gene

GeneLoc Exon Structure for
SMC6
ECgene alternative splicing isoforms for
SMC6

Expression for SMC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMC6 Gene

Protein differential expression in normal tissues from HIPED for SMC6 Gene

This gene is overexpressed in Serum (52.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMC6 Gene



Protein tissue co-expression partners for SMC6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMC6 Gene:

SMC6

SOURCE GeneReport for Unigene cluster for SMC6 Gene:

Hs.526728

mRNA Expression by UniProt/SwissProt for SMC6 Gene:

Q96SB8-SMC6_HUMAN
Tissue specificity: Widely expressed (PubMed:11408570). Strongly expressed in testis (PubMed:11408570).

Evidence on tissue expression from TISSUES for SMC6 Gene

  • Stomach(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with SMC6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMC6 Gene

Orthologs for SMC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMC6 34 35
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia SMC6 34 35
  • 90.95 (n)
cow
(Bos Taurus)
Mammalia SMC6 34 35
  • 90.55 (n)
mouse
(Mus musculus)
Mammalia Smc6 34 16 35
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Smc6 34
  • 89.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
-- 35
  • 48 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SMC6 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMC6 34 35
  • 68.05 (n)
lizard
(Anolis carolinensis)
Reptilia SMC6 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495634 34
  • 65.58 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68930 34
zebrafish
(Danio rerio)
Actinopterygii si:dkey-119f1.1 34
  • 56.74 (n)
SMC6 35
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5524 34 35
  • 42.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002985 34
  • 41.65 (n)
worm
(Caenorhabditis elegans)
Secernentea C23H4.6 35
  • 23 (a)
OneToMany
smc-6 35
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC6 35 37
  • 22 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons MIM 34
  • 45.91 (n)
rice
(Oryza sativa)
Liliopsida Os09g0121000 34
  • 48.93 (n)
Os.22377 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
OneToOne
Species where no ortholog for SMC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SMC6 Gene

ENSEMBL:
Gene Tree for SMC6 (if available)
TreeFam:
Gene Tree for SMC6 (if available)

Paralogs for SMC6 Gene

No data available for Paralogs for SMC6 Gene

Variants for SMC6 Gene

Sequence variations from dbSNP and Humsavar for SMC6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_035875 A breast cancer sample
rs552675967 Likely benign 17,754,138(+) CCGGC(C/G/T)CTGGA intron-variant, upstream-variant-2KB
rs869312588 Likely benign 17,755,795(+) ATTTG(A/T)TTCAT intron-variant, upstream-variant-2KB
rs1000003830 -- 17,670,021(+) TGTGG(A/G)TATGA intron-variant
rs1000079880 -- 17,694,073(+) GTCAT(C/T)GTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMC6 Gene

Variant ID Type Subtype PubMed ID
dgv685e199 CNV deletion 23128226
esv2439754 CNV deletion 19546169
esv2719749 CNV deletion 23290073
esv2759031 CNV gain 17122850
esv3891603 CNV gain 25118596
nsv522195 CNV loss 19592680
nsv997502 CNV gain 25217958

Variation tolerance for SMC6 Gene

Residual Variation Intolerance Score: 6.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.18; 87.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMC6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMC6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC6 Gene

Disorders for SMC6 Gene

Relevant External Links for SMC6

Human Genome Epidemiology (HuGE) Navigator
SMC6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMC6

No disorders were found for SMC6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMC6 Gene

Publications for SMC6 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  2. Hepatitis B virus X protein identifies the Smc5/6 complex as a host restriction factor. (PMID: 26983541) DecorsiA"re A. … Strubin M. (Nature 2016) 3 4 64
  3. DNA repair. Proteomics reveals dynamic assembly of repair complexes during bypass of DNA cross-links. (PMID: 25931565) RAoschle M. … Mann M. (Science 2015) 3 4 64
  4. Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex. (PMID: 18086888) Taylor E.M. … Lehmann A.R. (Mol. Cell. Biol. 2008) 3 4 64
  5. The SMC5/6 complex maintains telomere length in ALT cancer cells through SUMOylation of telomere-binding proteins. (PMID: 17589526) Potts P.R. … Yu H. (Nat. Struct. Mol. Biol. 2007) 3 4 64

Products for SMC6 Gene

Sources for SMC6 Gene

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