Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SMC3 Gene

Aliases for SMC3 Gene

  • Structural Maintenance Of Chromosomes 3 2 3 5
  • Basement Membrane-Associated Chondroitin Proteoglycan 3 4
  • Chondroitin Sulfate Proteoglycan 6 (Bamacan) 2 3
  • Chromosome-Associated Polypeptide 3 4
  • SMC Protein 3 3 4
  • SMC3L1 3 4
  • CSPG6 3 4
  • HCAP 3 4
  • BAM 3 4
  • BMH 3 4
  • Structural Maintenance Of Chromosomes Protein 3 3
  • Chondroitin Sulfate Proteoglycan 6 4
  • Bamacan Proteoglycan 2
  • Bamacan 4
  • CDLS3 3
  • SMC-3 4

External Ids for SMC3 Gene

Previous HGNC Symbols for SMC3 Gene

  • CSPG6

Previous GeneCards Identifiers for SMC3 Gene

  • GC10P112318
  • GC10P105957

Summaries for SMC3 Gene

Entrez Gene Summary for SMC3 Gene

  • This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for SMC3 Gene

SMC3 (Structural Maintenance Of Chromosomes 3) is a Protein Coding gene. Diseases associated with SMC3 include Cornelia De Lange Syndrome 3 and Wiedemann-Steiner Syndrome. Among its related pathways are SUMOylation and Mitotic Telophase/Cytokinesis. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and microtubule motor activity.

UniProtKB/Swiss-Prot for SMC3 Gene

  • Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.

Gene Wiki entry for SMC3 Gene

Additional gene information for SMC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC3 Gene

Genomics for SMC3 Gene

GeneHancer (GH) Regulatory Elements for SMC3 Gene

Promoters and enhancers for SMC3 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
GH10I110566 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562 +0.6 573 4.5 PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 SMC3 LOC105378483 SMNDC1 XPNPEP1 ENSG00000270589 RBM20 GC10M110607
GH10I110915 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 27.6 +351.1 351113 5.9 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 BBIP1 SHOC2 SMC3 SMNDC1 XPNPEP1 ENSG00000270589 ADRA2A PDCD4
GH10I110649 Enhancer 0.8 dbSUPER 56.9 +82.5 82472 1.5 PKNOX1 ARNT FEZF1 ZEB1 ZNF213 ZNF138 ZNF202 ZNF680 OVOL3 ZNF518A SMC3 XPNPEP1 ADRA2A SMNDC1 BBIP1 ENSG00000270589 RBM20 GC10P110732
GH10I111076 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 23.2 +509.5 509500 2 SIN3A ZNF2 GLIS2 ZNF143 ZNF548 RUNX3 KLF13 SP3 REST GLIS1 ADRA2A GC10P111079 PIR58551 PIR36818 SMC3 SMNDC1 BBIP1
GH10I110495 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16 -66.8 -66781 10.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B DUSP5 SMC3 XPNPEP1 MXI1 BBIP1 SHOC2 PDCD4 ENSG00000273143 GC10P110525
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMC3 gene promoter:

Genomic Locations for SMC3 Gene

Genomic Locations for SMC3 Gene
chr10:110,567,691-110,604,636
(GRCh38/hg38)
Size:
36,946 bases
Orientation:
Plus strand
chr10:112,327,449-112,364,394
(GRCh37/hg19)

Genomic View for SMC3 Gene

Genes around SMC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC3 Gene

Proteins for SMC3 Gene

  • Protein details for SMC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQE7-SMC3_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 3
    Protein Accession:
    Q9UQE7
    Secondary Accessions:
    • A8K156
    • O60464
    • Q5T482

    Protein attributes for SMC3 Gene

    Size:
    1217 amino acids
    Molecular mass:
    141542 Da
    Quaternary structure:
    • Interacts with MXI1, MXD3 and MXD4. Interacts with SYCP2. Found in a complex with SMC1A, CDCA5 and RAD21, PDS5A/SCC-112 and PDS5B/APRIN (By similarity). Forms a heterodimer with SMC1A or SMC1B in cohesin complexes. Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. Also found in meiosis-specific cohesin complexes. Interacts with NUMA1, and forms a ternary complex with KIF3B and KIFAP3, suggesting a function in tethering the chromosomes to the spindle pole and in chromosome movement. Interacts with PDS5A and WAPL; regulated by SMC3 acetylation. Interacts with RPGR (By similarity). Interacts (via central hinge region) with KIAA1328 (via N- and C-terminal domains) (PubMed:15656913). Interacts with DDX11 (PubMed:17105772).
    Miscellaneous:
    • Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiation and interstrand cross-linking agents.
    SequenceCaution:
    • Sequence=AAD32447.1; Type=Frameshift; Positions=457, 488, 523; Evidence={ECO:0000305};

neXtProt entry for SMC3 Gene

Post-translational modifications for SMC3 Gene

  • Acetylation at Lys-105 and Lys-106 by ESCO1 is important for genome stability and S phase sister chromatid cohesion. Regulated by DSCC1, it is required for processive DNA synthesis, coupling sister chromatid cohesion establishment during S phase to DNA replication. Deacetylation by HDAC8, regulates release of the cohesin complex from chromatin.
  • Phosphorylated at Ser-1083 in a SPO11-dependent manner.
  • Ubiquitination at posLast=2626, isoforms=188, isoforms=194, isoforms=215, posLast=963963, isoforms=1012, isoforms=1025, posLast=10341034, posLast=10381038, and posLast=11901190

Other Protein References for SMC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMC3 Gene

Domains & Families for SMC3 Gene

Gene Families for SMC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SMC3 Gene

Suggested Antigen Peptide Sequences for SMC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQE7

UniProtKB/Swiss-Prot:

SMC3_HUMAN :
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC1A or SMC1B, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity).
  • Belongs to the SMC family. SMC3 subfamily.
Domain:
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC1A or SMC1B, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 protein, forming a ring structure (By similarity).
Family:
  • Belongs to the SMC family. SMC3 subfamily.
genes like me logo Genes that share domains with SMC3: view

Function for SMC3 Gene

Molecular function for SMC3 Gene

UniProtKB/Swiss-Prot Function:
Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement.

Phenotypes From GWAS Catalog for SMC3 Gene

Gene Ontology (GO) - Molecular Function for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003777 microtubule motor activity NAS 11590136
GO:0005515 protein binding IPI 9506951
GO:0005524 ATP binding IEA --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with SMC3: view
genes like me logo Genes that share phenotypes with SMC3: view

Human Phenotype Ontology for SMC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SMC3 Gene

MGI Knock Outs for SMC3:
  • Smc3 tm1a(EUCOMM)Wtsi

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMC3 Gene

Localization for SMC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC3 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. The phosphorylated form at Ser-1083 is preferentially associated with unsynapsed chromosomal regions (By similarity). {ECO:0000250}.

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 SMC3 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS --
GO:0000785 chromatin IDA 16682347
GO:0000800 lateral element IEA --
GO:0005604 basement membrane TAS 8621634
GO:0005622 intracellular IDA,IEA 12651860
genes like me logo Genes that share ontologies with SMC3: view

Pathways & Interactions for SMC3 Gene

genes like me logo Genes that share pathways with SMC3: view

Pathways by source for SMC3 Gene

2 KEGG pathways for SMC3 Gene
1 GeneGo (Thomson Reuters) pathway for SMC3 Gene

SIGNOR curated interactions for SMC3 Gene

Other effect:

Gene Ontology (GO) - Biological Process for SMC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS 9506951
GO:0006275 regulation of DNA replication IMP 19907496
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with SMC3: view

Drugs & Compounds for SMC3 Gene

(1) Drugs for SMC3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SMC3: view

Transcripts for SMC3 Gene

mRNA/cDNA for SMC3 Gene

Unigene Clusters for SMC3 Gene

Structural maintenance of chromosomes 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMC3 Gene

No ASD Table

Relevant External Links for SMC3 Gene

GeneLoc Exon Structure for
SMC3
ECgene alternative splicing isoforms for
SMC3

Expression for SMC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMC3 Gene

This gene is overexpressed in Lymph node (15.0) and Peripheral blood mononuclear cells (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMC3 Gene



Protein tissue co-expression partners for SMC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMC3 Gene:

SMC3

SOURCE GeneReport for Unigene cluster for SMC3 Gene:

Hs.24485

Evidence on tissue expression from TISSUES for SMC3 Gene

  • Nervous system(4.6)
  • Blood(4.5)
  • Liver(4.5)
  • Heart(2.3)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SMC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SMC3: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SMC3 Gene

Orthologs for SMC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMC3 33 34
  • 99.78 (n)
oppossum
(Monodelphis domestica)
Mammalia SMC3 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SMC3 33 34
  • 94.39 (n)
cow
(Bos Taurus)
Mammalia SMC3 33 34
  • 94.16 (n)
mouse
(Mus musculus)
Mammalia Smc3 33 16 34
  • 91.1 (n)
rat
(Rattus norvegicus)
Mammalia Smc3 33
  • 89.98 (n)
chicken
(Gallus gallus)
Aves SMC3 33 34
  • 84.69 (n)
lizard
(Anolis carolinensis)
Reptilia SMC3 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smc3 33
  • 79.81 (n)
Str.5972 33
African clawed frog
(Xenopus laevis)
Amphibia smc3 33
zebrafish
(Danio rerio)
Actinopterygii smc3 33 34
  • 77.3 (n)
Dr.24937 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4168 33
fruit fly
(Drosophila melanogaster)
Insecta Cap 33 34
  • 54.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006388 33
  • 53.94 (n)
worm
(Caenorhabditis elegans)
Secernentea smc-3 33 34
  • 50.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC3 33 34 36
  • 48.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL182W 33
  • 46.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00286g 33
  • 46.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TTN7 33
  • 51.21 (n)
rice
(Oryza sativa)
Liliopsida Os02g0133300 33
  • 51.4 (n)
Os.21109 33
barley
(Hordeum vulgare)
Liliopsida Hv.1790 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10931 34
  • 72 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psm3 33
  • 49.59 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3392 33
Species where no ortholog for SMC3 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for SMC3 Gene

ENSEMBL:
Gene Tree for SMC3 (if available)
TreeFam:
Gene Tree for SMC3 (if available)

Paralogs for SMC3 Gene

(1) SIMAP similar genes for SMC3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SMC3 Gene

genes like me logo Genes that share paralogs with SMC3: view

No data available for Paralogs for SMC3 Gene

Variants for SMC3 Gene

Sequence variations from dbSNP and Humsavar for SMC3 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs111611128 uncertain-significance, Cornelia de Lange syndrome 3 110,602,037(+) T/C coding_sequence_variant, synonymous_variant
rs11195199 benign, not specified, Cornelia de Lange Syndrome 110,583,833(+) G/A intron_variant
rs112281749 uncertain-significance, Cornelia de Lange syndrome 3 110,601,702(+) T/C coding_sequence_variant, missense_variant
rs112525060 uncertain-significance, Cornelia de Lange syndrome 3 110,600,504(+) T/C coding_sequence_variant, synonymous_variant
rs113411202 uncertain-significance, Cornelia de Lange syndrome 3 110,578,654(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SMC3 Gene

Variant ID Type Subtype PubMed ID
nsv1054449 CNV gain 25217958
nsv467454 CNV gain 19166990
nsv508607 CNV deletion 20534489
nsv526452 CNV gain 19592680
nsv552171 CNV gain 21841781
nsv7211 OTHER inversion 18451855

Variation tolerance for SMC3 Gene

Residual Variation Intolerance Score: 3.67% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMC3 Gene

Human Gene Mutation Database (HGMD)
SMC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC3 Gene

Disorders for SMC3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SMC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome 3
  • cdls3
wiedemann-steiner syndrome
  • wdsts
cornelia de lange syndrome
  • brachmann de lange syndrome
sc phocomelia syndrome
  • sc pseudothalidomide syndrome
roberts syndrome
  • rbs
- elite association - COSMIC cancer census association via MalaCards
Search SMC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SMC3_HUMAN
  • Cornelia de Lange syndrome 3 (CDLS3) [MIM:610759]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic mental retardation. {ECO:0000269 PubMed:17273969, ECO:0000269 PubMed:18996922}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SMC3

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 SMC3: view

No data available for Genatlas for SMC3 Gene

Publications for SMC3 Gene

  1. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. (PMID: 17273969) Deardorff MA … Krantz ID (American journal of human genetics 2007) 2 3 4 22 58
  2. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome. (PMID: 20358602) Pié J … Ramos FJ (American journal of medical genetics. Part A 2010) 3 22 44 58
  3. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PMID: 18996922) Revenkova E … Musio A (Human molecular genetics 2009) 3 4 22 58
  4. The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells. (PMID: 17105772) Parish JL … Androphy EJ (Journal of cell science 2006) 3 4 22 58
  5. Hinderin, a five-domains protein including coiled-coil motifs that binds to SMC3. (PMID: 15656913) Patel CA … Ghiselli G (BMC cell biology 2005) 3 4 22 58

Products for SMC3 Gene

Sources for SMC3 Gene

Content
Loading form....