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Aliases for SMC4 Gene

Aliases for SMC4 Gene

  • Structural Maintenance Of Chromosomes 4 2 3 5
  • Chromosome-Associated Polypeptide C 3 4
  • SMC Protein 4 3 4
  • SMC4L1 3 4
  • SMC-4 3 4
  • CAPC 3 4
  • SMC4 (Structural Maintenance Of Chromosomes 4, Yeast)-Like 1 2
  • SMC4 Structural Maintenance Of Chromosomes 4-Like 1 (Yeast) 2
  • SMC4 Structural Maintenance Of Chromosomes 4-Like 1 3
  • Structural Maintenance Of Chromosomes Protein 4 3
  • XCAP-C Homolog 4
  • HCAP-C 4
  • CAP-C 3

External Ids for SMC4 Gene

Previous HGNC Symbols for SMC4 Gene

  • SMC4L1

Previous GeneCards Identifiers for SMC4 Gene

  • GC03P161601
  • GC03P160117
  • GC03P157516

Summaries for SMC4 Gene

Entrez Gene Summary for SMC4 Gene

  • This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]

GeneCards Summary for SMC4 Gene

SMC4 (Structural Maintenance Of Chromosomes 4) is a Protein Coding gene. Diseases associated with SMC4 include Pleural Empyema. Among its related pathways are Mitotic Prometaphase and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for SMC4 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 SMC4 Gene

Additional gene information for SMC4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC4 Gene

Genomics for SMC4 Gene

GeneHancer (GH) Regulatory Elements for SMC4 Gene

Promoters and enhancers for SMC4 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
GH03I160398 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 566.7 +2.6 2617 7.5 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 E2F8 SMC4 IFT80 B3GAT3P1 GC03P160406 GC03P160416 GC03P160417 GC03P160418 MIR15B MIR16-2 ENSG00000248710
GH03I160754 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.8 +356.6 356637 3.4 CLOCK ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 SP3 SP5 REST ENSG00000260572 PPM1L SMC4 SPTSSB PIR58593
GH03I160446 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 6.1 +50.2 50166 5.3 CLOCK SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 CBX5 TRIM59 ENSG00000248710 RPL23AP42 B3GAT3P1 SCARNA7 SMC4 GC03P160415
GH03I159828 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.4 -569.4 -569413 2.8 FOXA2 FEZF1 ZNF2 YY1 ZNF121 ZNF213 KLF7 FOS ZNF214 DEK IFT80 RNU2-31P IL12A SMC4 IQCJ-SCHIP1-AS1 LOC101928351 SCHIP1 IQCJ-SCHIP1
GH03I160563 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.4 +166.2 166222 4.4 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF213 KPNA4 KRT8P12 B3GAT3P1 SMC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMC4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMC4 gene promoter:

Genomic Locations for SMC4 Gene

Genomic Locations for SMC4 Gene
chr3:160,399,274-160,434,962
(GRCh38/hg38)
Size:
35,689 bases
Orientation:
Plus strand
chr3:160,117,062-160,152,750
(GRCh37/hg19)

Genomic View for SMC4 Gene

Genes around SMC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC4 Gene

Proteins for SMC4 Gene

  • Protein details for SMC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTJ3-SMC4_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 4
    Protein Accession:
    Q9NTJ3
    Secondary Accessions:
    • A6NLT9
    • D3DNL8
    • O95752
    • Q8NDL4
    • Q9UNT9

    Protein attributes for SMC4 Gene

    Size:
    1288 amino acids
    Molecular mass:
    147182 Da
    Quaternary structure:
    • Forms a heterodimer with SMC2. 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.

    Three dimensional structures from OCA and Proteopedia for SMC4 Gene

    Alternative splice isoforms for SMC4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMC4 Gene

Post-translational modifications for SMC4 Gene

  • Ubiquitination at posLast=9393, isoforms=2207, posLast=239239, posLast=268268, posLast=332332, posLast=389389, isoforms=2680, posLast=11121112, isoforms=21187, and posLast=12671267

No data available for DME Specific Peptides for SMC4 Gene

Domains & Families for SMC4 Gene

Gene Families for SMC4 Gene

Protein Domains for SMC4 Gene

Suggested Antigen Peptide Sequences for SMC4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NTJ3

UniProtKB/Swiss-Prot:

SMC4_HUMAN :
  • The hinge domain, which separates the large intramolecular coiled coil regions, allows the heterodimerization with SMC2, forming a V-shaped heterodimer.
  • Belongs to the SMC family. SMC4 subfamily.
Domain:
  • The hinge domain, which separates the large intramolecular coiled coil regions, allows the heterodimerization with SMC2, forming a V-shaped heterodimer.
Family:
  • Belongs to the SMC family. SMC4 subfamily.
genes like me logo Genes that share domains with SMC4: view

Function for SMC4 Gene

Molecular function for SMC4 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.

Gene Ontology (GO) - Molecular Function for SMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 17113138
GO:0005524 ATP binding TAS 11136719
GO:0046982 protein heterodimerization activity IPI 9789013
genes like me logo Genes that share ontologies with SMC4: view
genes like me logo Genes that share phenotypes with SMC4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMC4 Gene

Localization for SMC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC4 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
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 SMC4 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000796 condensin complex TAS 11850403
GO:0005634 nucleus TAS 11850403
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SMC4: view

Pathways & Interactions for SMC4 Gene

genes like me logo Genes that share pathways with SMC4: view

Pathways by source for SMC4 Gene

2 Cell Signaling Technology pathways for SMC4 Gene
1 BioSystems pathway for SMC4 Gene

Gene Ontology (GO) - Biological Process for SMC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation TAS 11321372
GO:0007049 cell cycle IEA --
GO:0007076 mitotic chromosome condensation IDA 11136719
GO:0010032 meiotic chromosome condensation IEA --
GO:0030261 chromosome condensation IEA --
genes like me logo Genes that share ontologies with SMC4: view

No data available for SIGNOR curated interactions for SMC4 Gene

Drugs & Compounds for SMC4 Gene

(4) Drugs for SMC4 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 SMC4 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 SMC4: view

Drug Products

Transcripts for SMC4 Gene

Unigene Clusters for SMC4 Gene

Structural maintenance of chromosomes 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMC4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^
SP1:
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5:
SP6: - - - - - - - - -
SP7: - - - - - - - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - -
SP11: - - - - -
SP12: - - - -
SP13: -
SP14:
SP15:
SP16: - - - - - - -
SP17:
SP18:
SP19:
SP20:
SP21:

ExUns: 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for SMC4 Gene

GeneLoc Exon Structure for
SMC4
ECgene alternative splicing isoforms for
SMC4

Expression for SMC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMC4 Gene

Protein differential expression in normal tissues from HIPED for SMC4 Gene

This gene is overexpressed in Lymph node (17.6), Bone (16.4), and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMC4 Gene



Protein tissue co-expression partners for SMC4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMC4 Gene:

SMC4

SOURCE GeneReport for Unigene cluster for SMC4 Gene:

Hs.58992

mRNA Expression by UniProt/SwissProt for SMC4 Gene:

Q9NTJ3-SMC4_HUMAN
Tissue specificity: Widely expressed. Higher expression in testis, colon, thymus.

Evidence on tissue expression from TISSUES for SMC4 Gene

  • Nervous system(2.2)
  • Liver(2)
genes like me logo Genes that share expression patterns with SMC4: 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 SMC4 Gene

Orthologs for SMC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMC4 33 34
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia SMC4 33 34
  • 92.74 (n)
cow
(Bos Taurus)
Mammalia SMC4 33 34
  • 92.31 (n)
rat
(Rattus norvegicus)
Mammalia Smc4 33
  • 87.66 (n)
mouse
(Mus musculus)
Mammalia Smc4 33 16 34
  • 87.64 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves SMC4 33 34
  • 75.62 (n)
lizard
(Anolis carolinensis)
Reptilia SMC4 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smc4 33
  • 73.5 (n)
Str.8927 33
African clawed frog
(Xenopus laevis)
Amphibia XCAP-C 33
zebrafish
(Danio rerio)
Actinopterygii smc4 33 34
  • 63.88 (n)
smc4l1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9052 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007826 33
  • 49.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta glu 33 34
  • 47.17 (n)
worm
(Caenorhabditis elegans)
Secernentea dpy-27 34
  • 24 (a)
OneToMany
smc-4 34
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC4 33 34 36
  • 49.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR089C 33
  • 49.45 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F19085g 33
  • 49.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SMC3 33
  • 51.83 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9522 33
rice
(Oryza sativa)
Liliopsida Os05g0497100 33
  • 53.63 (n)
Os.19862 33
barley
(Hordeum vulgare)
Liliopsida Hv.10104 33
wheat
(Triticum aestivum)
Liliopsida Ta.7603 33
corn
(Zea mays)
Liliopsida Zm.16936 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cut3 33
  • 48.73 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09063 33
  • 47.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2292 34
  • 38 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4807 33
Species where no ortholog for SMC4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 SMC4 Gene

ENSEMBL:
Gene Tree for SMC4 (if available)
TreeFam:
Gene Tree for SMC4 (if available)

Paralogs for SMC4 Gene

Pseudogenes.org Pseudogenes for SMC4 Gene

genes like me logo Genes that share paralogs with SMC4: view

No data available for Paralogs for SMC4 Gene

Variants for SMC4 Gene

Sequence variations from dbSNP and Humsavar for SMC4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs113776466 uncertain-significance, Jeune thoracic dystrophy 160,399,509(+) C/A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs375150390 uncertain-significance, Jeune thoracic dystrophy 160,399,197(+) C/G upstream_transcript_variant
rs545378240 uncertain-significance, Jeune thoracic dystrophy 160,399,282(+) G/A upstream_transcript_variant
rs559709322 uncertain-significance, Jeune thoracic dystrophy 160,399,342(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs886058136 uncertain-significance, Jeune thoracic dystrophy 160,399,395(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SMC4 Gene

Variant ID Type Subtype PubMed ID
nsv822305 CNV gain 20364138

Variation tolerance for SMC4 Gene

Residual Variation Intolerance Score: 3.56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMC4 Gene

Human Gene Mutation Database (HGMD)
SMC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMC4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC4 Gene

Disorders for SMC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMC4 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
pleural empyema
  • abscess of pleural cavity
- elite association - COSMIC cancer census association via MalaCards
Search SMC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMC4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SMC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMC4 Gene

Publications for SMC4 Gene

  1. 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 22 58
  2. 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 22 58
  3. Isolation and characterization of a human cDNA homologous to the Xenopus laevis XCAP-C gene belonging to the structural maintenance of chromosomes (SMC) family. (PMID: 10319587) Nishiwaki T … Nakamura Y (Journal of human genetics 1999) 2 3 4 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  5. Condensin mutations and abnormal chromosomal structures in pyothorax-associated lymphoma. (PMID: 17488335) Ham MF … Aozasa K (Cancer science 2007) 3 22 58

Products for SMC4 Gene

Sources for SMC4 Gene

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