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 segregati... See more...

Aliases for SMC3 Gene

Aliases for SMC3 Gene

  • Structural Maintenance Of Chromosomes 3 2 3 5
  • SMC3L1 2 3 4
  • HCAP 2 3 4
  • BAM 2 3 4
  • Basement Membrane-Associated Chondroitin Proteoglycan 3 4
  • Structural Maintenance Of Chromosomes Protein 3 3 4
  • Chondroitin Sulfate Proteoglycan 6 (Bamacan) 2 3
  • Chromosome-Associated Polypeptide 3 4
  • SMC Protein 3 3 4
  • Bamacan 2 4
  • CSPG6 3 4
  • BMH 3 4
  • Chondroitin Sulfate Proteoglycan 6 4
  • Bamacan Proteoglycan 2
  • CDLS3 3
  • SMC-3 4
  • SMC3 5

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 With Or Without Midline Brain Defects and Wiedemann-Steiner Syndrome. Among its related pathways are ATM Pathway and Cell cycle_Spindle assembly and chromosome separation. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and microtubule motor activity. An important paralog of this gene is SMC1A.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMC3 Gene

Genomics for SMC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SMC3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMC3

Top Transcription factor binding sites by QIAGEN in the SMC3 gene promoter:
  • AML1a
  • CUTL1

Genomic Locations for SMC3 Gene

Genomic Locations for SMC3 Gene
chr10:110,567,695-110,606,048
(GRCh38/hg38)
Size:
38,354 bases
Orientation:
Plus strand
chr10:112,327,449-112,364,394
(GRCh37/hg19)
Size:
36,946 bases
Orientation:
Plus strand

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:
    • Forms a heterodimer with SMC1A or SMC1B in cohesin complexes (PubMed:22628566). Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their SMC 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 (PubMed:11076961). Found in a complex with SMC1A, CDCA5 and RAD21, PDS5A/SCC-112 and PDS5B/APRIN (PubMed:15837422). 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 (PubMed:9506951, PubMed:11590136). Interacts with PDS5A and WAPL; regulated by SMC3 acetylation (PubMed:19907496). Interacts (via SMC hinge domain) with KIAA1328 (via N- and C-terminal domains) (PubMed:15656913). Interacts with DDX11 (PubMed:17105772). Found in a cohesin complex with SMC1A, STAG1 and RAD21 (PubMed:22628566). The SMC1A-SMC3 heterodimer interacts with the NIPBL-MAU2 heterodimer (PubMed:22628566). Interacts with MXI1, MXD3, MXD4, SYCP2, RPGR and STAG3 (By similarity).
    SequenceCaution:
    • Sequence=AAD32447.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiation and interstrand cross-linking agents.

neXtProt entry for SMC3 Gene

Post-translational modifications for SMC3 Gene

  • Ubiquitinated by the DCX(DCAF15) complex, leading to its degradation.
  • Phosphorylated at Ser-1083 in a SPO11-dependent manner.
  • 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.
  • Ubiquitination at Lys26, Lys188, Lys194, Lys215, Lys956, Lys963, Lys1012, Lys1025, Lys1034, Lys1038, and Lys1190
  • Modification sites at PhosphoSitePlus

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

InterPro:
Blocks:
  • SMCs flexible hinge
ProtoNet:

Suggested Antigen Peptide Sequences for SMC3 Gene

GenScript: Design optimal peptide antigens:
  • Structural maintenance of chromosomes 3 (Q86VX4_HUMAN)
  • Chromosome-associated polypeptide (SMC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UQE7

UniProtKB/Swiss-Prot:

SMC3_HUMAN :
  • The flexible SMC 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 SMC 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:0000166 nucleotide binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003777 microtubule motor activity NAS 11590136
GO:0005515 protein binding IPI 9506951
GO:0005524 ATP 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 Smc3<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for SMC3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMC3

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 UniProtKB:Q9CW03}.

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 4
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SMC3: view

Pathways & Interactions for SMC3 Gene

PathCards logo

SuperPathways for SMC3 Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Cell Cycle, Mitotic
.60
4 Mitotic Metaphase and Anaphase
5 SUMOylation
genes like me logo Genes that share pathways with SMC3: view

Pathways by source for SMC3 Gene

1 GeneGo (Thomson Reuters) pathway for SMC3 Gene
  • Cell cycle_Spindle assembly and chromosome separation
14 Qiagen pathways for SMC3 Gene
  • ATM Pathway
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
2 Cell Signaling Technology pathways for SMC3 Gene

SIGNOR curated interactions for SMC3 Gene

Inactivates:
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

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 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 SMC3

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

No ASD Table

Relevant External Links for SMC3 Gene

GeneLoc Exon Structure for
SMC3

Expression for SMC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SMC3 Gene



Protein tissue co-expression partners for SMC3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMC3

SOURCE GeneReport for Unigene cluster for SMC3 Gene:

Hs.24485

Evidence on tissue expression from TISSUES for SMC3 Gene

  • Nervous system(4.7)
  • Blood(4.7)
  • Liver(4.6)
  • Heart(3.1)
  • Eye(2.9)
  • Skin(2.7)
  • Kidney(2.6)
  • Intestine(2.6)
  • Bone marrow(2.4)
  • Muscle(2.4)
  • Lung(2.4)
  • Pancreas(2.3)
  • Spleen(2.3)

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
Regions:
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 30 31
  • 99.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 99 (a)
OneToMany
-- 31
  • 98 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SMC3 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SMC3 30 31
  • 94.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SMC3 30 31
  • 94.16 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Smc3 30 17 31
  • 91.1 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Smc3 30
  • 89.98 (n)
Chicken
(Gallus gallus)
Aves SMC3 30 31
  • 84.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SMC3 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia smc3 30
  • 79.81 (n)
Str.5972 30
African clawed frog
(Xenopus laevis)
Amphibia smc3 30
Zebrafish
(Danio rerio)
Actinopterygii smc3 30 31
  • 77.3 (n)
OneToOne
Dr.24937 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4168 30
Fruit Fly
(Drosophila melanogaster)
Insecta Cap 30 31
  • 54.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006388 30
  • 53.94 (n)
Worm
(Caenorhabditis elegans)
Secernentea smc-3 30 31
  • 50.49 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC3 30 31 33
  • 48.26 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL182W 30
  • 46.93 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00286g 30
  • 46.53 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TTN7 30
  • 51.21 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0133300 30
  • 51.4 (n)
Os.21109 30
Barley
(Hordeum vulgare)
Liliopsida Hv.1790 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10931 31
  • 72 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes psm3 30
  • 49.59 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3392 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for SMC3: view image

Paralogs for SMC3 Gene

Paralogs for SMC3 Gene

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

  • SMC3_HUMAN
  • Q86VX4_HUMAN

Pseudogenes.org Pseudogenes for SMC3 Gene

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

Variants for SMC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMC3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
626275 Pathogenic: Cornelia de Lange syndrome 3 110,583,937(+) GAGAA/G FRAMESHIFT_VARIANT
638053 Uncertain Significance: Cornelia de Lange syndrome 3 110,578,648(+) T/G MISSENSE_VARIANT
638160 Uncertain Significance: Cornelia de Lange syndrome 3 110,598,154(+) T/C MISSENSE_VARIANT
653982 Uncertain Significance: Cornelia de Lange syndrome 3 110,593,185(+) T/C MISSENSE_VARIANT
667614 Benign: not provided 110,567,361(+) A/G

Additional dbSNP identifiers (rs#s) for SMC3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SMC3 Gene

MalaCards: The human disease database

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

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
Open Targets Platform
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 23
  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 23 41
  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 23
  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 23
  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 23

Products for SMC3 Gene

Sources for SMC3 Gene