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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SMC3 Gene

protein-coding GIFtS: 62
GCID: GC10P112318

structural maintenance of chromosomes 3

(Previous name: chondroitin sulfate proteoglycan 6 (bamacan) )
(Previous symbol: CSPG6)

Explore 19 diseases affiliated with
SMC3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Structural Maintenance Of Chromosomes 3¹ ²		SMC-3² ³
BAM¹ ² ³ ⁵		SMC Protein 3² ³
CSPG6¹ ² ³ ⁵		CDLS3² ⁵
SMC3L1¹ ² ³		Bamacan³
HCAP¹ ² ⁵		Structural Maintenance Of Chromosomes Protein 3²
Chondroitin Sulfate Proteoglycan 6 (Bamacan)¹ ²		Bamacan³
Basement Membrane-Associated Chondroitin Proteoglycan² ³		Chondroitin Sulfate Proteoglycan 6³
Chromosome-Associated Polypeptide² ³		HCAP¹ ² ⁵
BMH² ³

External Ids:	HGNC: 2468¹	Entrez Gene: 9126²	Ensembl: ENSG00000108055⁷	OMIM: 606062⁵	UniProtKB: Q9UQE7³

Export aliases for SMC3 gene to outside databases

Previous GC identifer: GC10P105957

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMC3:

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)

UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7

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

Gene Wiki entry for SMC3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SMC3 gene promoter:
AML1a CUTL1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMC3 promoter sequence

Search SABiosciences Chromatin IP Primers for SMC3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMC3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q25 Ensembl cytogenetic band: 10q25.2 HGNC cytogenetic band: 10q25

SMC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMC3 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P112318: view genomic region (about GC identifiers)

Start:	112,327,449 bp from pter	End:	112,364,394 bp from pter
Size:	36,946 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7 (See protein sequence)

Recommended Name: Structural maintenance of chromosomes protein 3

Size: 1217 amino acids; 141542 Da

Subunit: Interacts with MXI1, MXD3 and MXD4. Interacts with SYCP2. Found in a complex with SMC1A, CDCA5 and RAD21,

PDS5A/APRIN and PDS5B/SCC-112 (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 WAPAL; regulated by

SMC3 acetylation. Interacts with RPGR (By similarity)

Subcellular location: 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)

Miscellaneous: Mutated Cornelia de Lange cell lines display genomic instability and sensitivity to ionizing radiation

and interstrand cross-linking agents

Caution: Was originally isolated as a proteoglycan protein (explaining its name). Although not excluded, such secreted

function is not clear

Sequence caution: Sequence=AAD32447.1; Type=Frameshift; Positions=457, 488, 523;

Secondary accessions: A8K156 O60464 Q5T482

Explore the universe of human proteins at neXtProt for SMC3: NX_Q9UQE7

Post-translational modifications:

Phosphorylated at Ser-1083 in a SPO11-dependent manner (By similarity)¹

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 chromatin¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UQE7

SMC3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005436.1

ENSEMBL proteins:

ENSP00000354720

Reactome Protein details: Q9UQE7
Human Recombinant Protein Products:

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	Novus Biologicals SMC3 Protein Novus Biologicals SMC3 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SMC3

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000775	chromosome, centromeric region	IEA	--
GO:0000785	chromatin	IDA	19907496
GO:0000800	lateral element	IEA	--
GO:0000922	spindle pole	IDA	11590136
GO:0005604	basement membrane	TAS	9015313

SMC3 for ontologies About GeneDecksing

SMC3 Antibody Products:

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	Cell Signaling Technology (CST) Antibodies for SMC3
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	Novus Biologicals SMC3 Antibodies
	Abcam antibodies for SMC3
	Uscn Antibodies for SMC3
	Search ThermoFisher Antibodies for SMC3

Assay Products for SMC3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SMC3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SMC3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SMC3 for domains About GeneDecksing

2 InterPro domains/families:

IPR003395 RecF/RecN/SMC

IPR010935 SMC_hinge

Graphical View of Domain Structure for InterPro Entry Q9UQE7

ProtoNet protein and cluster: Q9UQE7

1 Blocks protein family: IPB010935 SMCs flexible hinge

UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7

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)

Similarity: Belongs to the SMC family. SMC3 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7

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

miRNA Products:		OriGene 3'-UTR Clone: SMC3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMC3
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate SMC3:
		hsa-miR-3163 hsa-miR-582-5p hsa-miR-127-5p
		SwitchGear 3'UTR luciferase reporter plasmid: SMC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMC3 (see all 7) OriGene shRNA RFP: SMC3 OriGene siRNA: SMC3
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Gene Editing
Products:

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		GenScript: all cDNA clones in your preferred vector: SMC3 (NM_002804)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SMC3
		Search LifeMap BioReagents cell lines for SMC3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC3

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

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	17349791
GO:0005524	ATP binding	IEA	--
GO:0036033	mediator complex binding	IEA	--

SMC3 for ontologies About GeneDecksing

7 GenomeRNAi human phenotypes for SMC3:

Increased S DNA content	Increased Salmonella enterica	Increased Salmonella enterica	Increased Salmonella enterica
Increased Salmonella enterica	Increased Salmonella-containin	Increased gamma-H2AX phosphory

Animal Models:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Smc3):

cellular

craniofacial

growth/size

mortality/aging

reproductive system

SMC3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

M Phase

M Phase	1.00	Mitotic Anaphase	0.85
Mitotic M-M/G1 phases	0.88	Separation of Sister Chromatids	0.80
Mitotic Metaphase and Anaphase	0.85

Meiotic Synapsis

	Meiotic Synapsis	1.00			Meiosis	0.70
	Telomere clustering at the nuclear membrane	0.82			Chromosome Maintenance	0.56

Cohesin Loading onto Chromatin

	Cohesin Loading onto Chromatin	1.00			Establishment of Sister Chromatid Cohesion	0.62
	Mitotic Telophase/Cytokinesis	0.71

Resolution of Sister Chromatid Cohesion

	Resolution of Sister Chromatid Cohesion	1.00			Mitotic Prometaphase	0.93
	Kinetochore assembly	0.96

Cell cycle_Spindle assembly and chromosome separation

Cell cycle_Spindle assembly and chromosome separation

1.00

Cell cycle Spindle assembly and chromosome separation

0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for SMC3

	Cell cycle Spindle assembly and chromosome separation
	Meiosis

2 Cell Signaling Technology (CST) Pathways for SMC3

	Chromatin Regulation / Acetylation
	Cell Cycle / Checkpoint Control

1 GeneGo (Thomson Reuters) Pathway for SMC3

Cell cycle Spindle assembly and chromosome separation

5/20 Reactome Pathways for SMC3 (see all 20)

	Establishment of Sister Chromatid Cohesion
	Mitotic Prometaphase
	Resolution of Sister Chromatid Cohesion
	Cell Cycle
	M Phase

2 Kegg Pathways (Kegg details for SMC3):

	Cell cycle
	Oocyte meiosis

SMC3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SMC3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/981 Interacting proteins for SMC3 (Q9UQE7^{1, 2, 3} ENSP00000354720⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 981)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RAD21	O60216¹^,²^,³, ENSP00000297338⁴	EBI-80718,EBI-80739 MINT-6178106 MINT-8081286 MINT-8385079 MINT-8081321 MINT-7914988 MINT-6178206 MINT-7945693 MINT-8080160 MINT-6178091 MINT-8081303 MINT-8385100 I2D: score=3 STRING: ENSP00000297338
HIST1H4A	P62805³	I2D: score=4
HIST1H4B	P62805³	I2D: score=4
HIST1H4C	P62805³	I2D: score=4
HIST1H4D	P62805³	I2D: score=4

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000087	M phase of mitotic cell cycle	TAS	--
GO:0000236	mitotic prometaphase	TAS	--
GO:0000278	mitotic cell cycle	TAS	--
GO:0006275	regulation of DNA replication	IMP	19907496
GO:0006281	DNA repair	IEA	--

SMC3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SMC3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SMC3
1 Novoseek chemical compound relationship for SMC3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	0	3	14614819 (3)

Search CenterWatch for drugs/clinical trials and news about SMC3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SMC3 gene:

NM_005445.3

Unigene Cluster for SMC3:

Structural maintenance of chromosomes 3

Hs.24485 [show with all ESTs]

Unigene Representative Sequence: NM_005445

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000361804(uc001kze.3) ENST00000462899

miRNA Products:		OriGene 3'-UTR Clone: SMC3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMC3
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate SMC3:
		hsa-miR-3163 hsa-miR-582-5p hsa-miR-127-5p
		SwitchGear 3'UTR luciferase reporter plasmid: SMC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: SMC3 (NM_002804)
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMC3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat SMC3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMC3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMC3

Additional cDNA sequence:

AF020043.1 AF067163.1 AJ005015.1 AK289771.1 AK315845.1 AL360194.1 BC047324.1

13 DOTS entries:

DT.315177 DT.315176 DT.120952383 DT.92435375 DT.121221542 DT.92435366 DT.121221545 DT.121221550

DT.75134143 DT.86859024 DT.97846107 DT.40112350 DT.92422397

24/211 AceView cDNA sequences (see all 211):

BQ895984 CB134667 BU782622 BX505550 BM456648 AW771344 AL079814 AA573151

BF970613 BM680603 CA448230 BQ420420 BG177565 NM_005445 CR603306 BQ181255

AI675561 BM453744 AA279157 BG942079 BU634323 BG941495 BE646260 BM972985

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SMC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAAATATTC

About this image

SMC3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Stylopod

Limb

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SMC3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMC3

SOURCE GeneReport for Unigene cluster: Hs.24485

SABiosciences Custom PCR Arrays for SMC3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMC3 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMC3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMC3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC3 gene from 10/43 species (see all 43) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Smc3^{1 , 5}	structural maintenance of chromosomes 3^{1, 5}	91.1(n)¹ 99.92(a)¹		19 (48.13 cM)⁵ 13006¹ NM_007790.3¹ NP_031816.2¹ 53600398⁵
chicken (Gallus gallus)	Aves	SMC3¹	structural maintenance of chromosomes 3	84.69(n) 99.34(a)		395188 NM_204517.1 NP_989848.1
lizard (Anolis carolinensis)	Reptilia	SMC3⁶	--	98(a)	1 ↔ 1	3(45433545-45467583)
African clawed frog (Xenopus laevis)	Amphibia	smc3²	structural maintenance of chromosomes protein 3	80.56(n)		AJ535316.1
zebrafish (Danio rerio)	Actinopterygii	Dr.24937²	Danio rerio mRNA similar to chondroitin sulfate proteoglycan more	78.6(n)		BC044408.1
fruit fly (Drosophila melanogaster)	Insecta	Cap¹	Chromosome-associated protein	54.33(n) 54.39(a)		32627 NM_078650.2 NP_523374.2
worm (Caenorhabditis elegans)	Secernentea	smc-3¹	Protein SMC-3	50.25(n) 42.03(a)		176559 NM_001136370.1 NP_001129842.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SMC3(YJL074C)⁴ SMC3¹	Subunit of the multiprotein cohesin complex required more⁴ Smc3p¹	48.19(n)¹ 34.58(a)¹		10(302849-299157)⁴ 853371^{1, 4} NP_012461.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	TTN7¹	structural maintenance of chromosome 3 (chondroitin more	51.26(n) 40.45(a)		817259 NM_128275.4 NP_180285.4
rice (Oryza sativa)	Liliopsida	Os.21109²	Oryza sativa mRNA for SMC3 protein	72.67(n)		AJ535211.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SMC3 gene

1 SIMAP similar gene for SMC3 using alignment to 2 protein entries: SMC3_HUMAN (see all proteins):

SMC2

SMC3 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for SMC3
PGOHUM00000240814

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs59560790^1,2		--	105955270(+)	`TTGGCA/CAGACT`	1	--	us2k¹		0	--	--	--	--
rs113887598^1,2	C,	--	105955341(+)	`ACAGGC/AGTGAA`	1	--	us2k¹		1		NA	2
rs7899486^1,2	A	--	105955462(+)	`gtgggA/Tggatc`	1	--	us2k¹		0	--	--	--	--
rs12415862^1,2	H	--	105955989(+)	`gggatA/Tacacg`	1	--	us2k¹		0	--	--	--	--
rs79327922^1,2	F,	--	105956339(+)	`TCAGGC/TTGTTT`	1	--	us2k¹		1		EA	120
rs7920494^1,2	C,H	--	105956425(+)	`ATTTAT/CAGCAG`	1	--	us2k¹ tfbs³		3		NS NA	228
rs111722821^1,2		--	105956961(+)	`GACCTA/G/TAACTT`	1	--	us2k¹		1		CSA	2
rs3814683^1,2	C,F,	--	105957671(-)	`ACGGCT/CCCCCG`	1	--	int¹		5		EA WA CSA	1028
rs3814682^1,2	C,	--	105957716(-)	`AAGCAA/GGAGGG`	1	--	int¹		0	--	--	--	--
rs11195189^1,2		--	105957994(+)	`GCGTTT/GAGGGT`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for SMC3 (112327449 - 112364394 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SMC3: --
Human Gene Mutation Database (HGMD): SMC3

Locus Specific Mutation Databases (LSDB): SMC3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMC3

DNA2.0 Custom Variant and Variant Library Synthesis for SMC3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SMC3 for disorders           About GeneDecksing

OMIM gene information: 606062
OMIM disorders: 610759
UniProtKB/Swiss-Prot: SMC3_HUMAN, Q9UQE7

Defects in SMC3 are the cause of Cornelia de Lange syndrome type 3 (CDLS3) [MIM:610759]. CDLS is a dominantly

inherited multisystem developmental disorder characterized by growth and cognitive retardation, abnormalities of the

upper limbs, gastroesophageal dysfunction, cardiac, ophthalmologic and genitourinary anomalies, hirsutism, and

characteristic facial features. CDSL3 is a mild form with absence of major structural anomalies typically associated

with CDLS. The phenotype in some instances approaches that of apparently non-syndromic mental retardation

19 diseases for SMC3: About MalaCards

cornelia de lange syndrome sc phocomelia syndrome roberts syndrome intellectual disability

ataxia telangiectasia retinitis pigmentosa thalassemia vaccinia

ataxia gingivitis alzheimer's disease retinitis

periodontitis colorectal cancer pneumonia schizophrenia

tuberculosis malaria mycobacterium tuberculosis

4 diseases from the University of Copenhagen DISEASES database for SMC3:

Cornelia de Lange syndrome Roberts syndrome SC phocomelia syndrome Intellectual disability

2 Novoseek disease relationships for SMC3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
colon carcinoma	40.1	4	10801778 (2), 12651860 (1), 16156898 (1)
tumors	0	1	10801778 (1)

Human Genome Epidemiology (HuGE) Navigator: SMC3 (2 documents)

Export disorders for SMC3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SMC3 gene, integrated from 9 sources (see all 125):
(articles sorted by number of sources associating them with SMC3)

Utopia: connect your pdf to the dynamic
world of online information

Complex formation of SMAP/KAP3, a KIF3A/B ATPase motor-associated protein, with a human chromosome-associated polypeptide. (PubMed id 9506951)^{1, 2, 3} Shimizu K.... Takai Y. (1998)
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (PubMed id 18996922)^{1, 2, 9} Revenkova E....Musio A. (2009)
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. (PubMed id 17273969)^{1, 2, 9} Deardorff M.A....Krantz I.D. (2007)
Cohesin acetylation speeds the replication fork. (PubMed id 19907496)^{1, 2} Terret M.E....Jallepalli P.V. (2009)
Acetylation of Smc3 by Eco1 is required for S phase sister chromatid cohesion in both human and yeast. (PubMed id 18614053)^{1, 2} Zhang J....Qin J. (2008)
Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates. (PubMed id 15837422)^{1, 2} Rankin S.... Kirschner M.W. (2005)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
A potential role for human cohesin in mitotic spindle aster assembly. (PubMed id 11590136)^{1, 2} Gregson H.C....Yokomori K. (2001)
Characterization of vertebrate cohesin complexes and their regulation in prophase. (PubMed id 11076961)^{1, 2} Sumara I.... Peters J.-M. (2000)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2} Zhang Q.-H.... Chen Z. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9126	HGNC: 2468	AceView: CSPG6	Ensembl:ENSG00000108055	euGenes: HUgn9126
ECgene: SMC3	Kegg: 9126	H-InvDB: SMC3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SMC3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SMC3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SMC3 gene:
Search GeneIP for patents involving SMC3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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structural maintenance of chromosomes 3

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structural maintenance of chromosomes 3

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