ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	SMC3
Previous Symbol	CSPG6
Symbol Alias	HCAP, BAM, SMC3L1, bamacan
Approved Name	structural maintenance of chromosomes 3
Previous Name	chondroitin sulfate proteoglycan 6 (bamacan)
Name Alias	bamacan proteoglycan
Location	10q25
Position	chr10:112327449-112364394, +
External Links	HGNC: 2468 Entrez Gene: 9126 Ensembl: ENSG00000108055 UCSC: uc001kze.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 34)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000226	microtubule cytoskeleton organization	Biological Process		39

GO terms by database search (count: 33)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0045502	dynein binding	Molecular Function	IDA[11590136]	6
GO:0036033	mediator complex binding	Molecular Function		4
GO:0051301	cell division	Biological Process		58
GO:0046982	protein heterodimerization activity	Molecular Function	IPI[11590136]	68
GO:0030893	meiotic cohesin complex	Cellular Component		3
GO:0019827	stem cell maintenance	Biological Process		12
GO:0034991	nuclear meiotic cohesin complex	Cellular Component		2
GO:0032876	negative regulation of DNA endoreduplication	Biological Process	IMP[15917200]	3
GO:0007165	signal transduction	Biological Process	IDA[12651860]	171
GO:0007126	meiosis	Biological Process	IDA[12498344]	11
GO:0016363	nuclear matrix	Cellular Component	IDA[11590136]	16
GO:0008278	cohesin complex	Cellular Component	NAS[9506951]	3
GO:0007062	sister chromatid cohesion	Biological Process	IMP[15917200]; NAS[11590136]	5
GO:0007052	mitotic spindle organization	Biological Process	IEP[11590136]	7
GO:0007091	mitotic metaphase/anaphase transition	Biological Process		4
GO:0007067	mitosis	Biological Process	TAS[9506951]	39
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005737	cytoplasm	Cellular Component	IDA[11590136]	690
GO:0006275	regulation of DNA replication	Biological Process	IMP[19907496]	3
GO:0006281	DNA repair	Biological Process		62
GO:0005515	protein binding	Molecular Function	IPI[17349791]	910
GO:0005524	ATP binding	Molecular Function		228
GO:0005604	basement membrane	Cellular Component	TAS[9015313]	14
GO:0005634	nucleus	Cellular Component	TAS[9506951]	770
GO:0000800	lateral element	Cellular Component		4
GO:0000922	spindle pole	Cellular Component	IDA[11590136]	22
GO:0003682	chromatin binding	Molecular Function		48
GO:0003777	microtubule motor activity	Molecular Function	NAS[11590136]	17
GO:0000236	mitotic prometaphase	Biological Process		17
GO:0000278	mitotic cell cycle	Biological Process		63
GO:0000775	chromosome, centromeric region	Cellular Component		9
GO:0000785	chromatin	Cellular Component	IDA[19907496]	13
GO:0000087	M phase of mitotic cell cycle	Biological Process		19

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04110	Cell cycle	19	Mitotic cell cycle progression is accomplished through a rep...... Mitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cyclin-dependent kinases (CDKs) are key regulatory enzymes, each consisting of a catalytic CDK subunit and an activating cyclin subunit. CDKs regulate the cell's progression through the phases of the cell cycle by modulating the activity of key substrates. Downstream targets of CDKs include transcription factor E2F and its regulator Rb. Precise activation and inactivation of CDKs at specific points in the cell cycle are required for orderly cell division. Cyclin-CDK inhibitors (CKIs), such as p16Ink4a, p15Ink4b, p27Kip1, and p21Cip1, are involved in the negative regulation of CDK activities, thus providing a pathway through which the cell cycle is negatively regulated. More...
hsa04114	Oocyte meiosis	22	During meiosis, a single round of DNA replication is followe...... During meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segregate to opposite poles, while the sister chromatids segregate from each other at meoisis II. In vertebrates, immature oocytes are arrested at the PI (prophase of meiosis I). The resumption of meiosis is stimulated by progesterone, which carries the oocyte through two consecutive M-phases (MI and MII) to a second arrest at MII. The key activity driving meiotic progression is the MPF (maturation-promoting factor), a heterodimer of CDC2 (cell division cycle 2 kinase) and cyclin B. In PI-arrested oocytes, MPF is initially inactive and is activated by the dual-specificity CDC25C phosphatase as the result of new synthesis of Mos induced by progesterone. MPF activation mediates the transition from the PI arrest to MI. The subsequent decrease in MPF levels, required to exit from MI into interkinesis, is induced by a negative feedback loop, where CDC2 brings about the activation of the APC (anaphase-promoting complex), which mediates destruction of cyclin B. Re-activation of MPF for MII requires re-accumulation of high levels of cyclin B as well as the inactivation of the APC by newly synthesized Emi2 and other components of the CSF (cytostatic factor), such as cyclin E or high levels of Mos. CSF antagonizes the ubiquitin ligase activity of the APC, preventing cyclin B destruction and meiotic exit until fertilization occurs. Fertilization triggers a transient increase in cytosolic free Ca2+, which leads to CSF inactivation and cyclin B destruction through the APC. Then eggs are released from MII into the first embryonic cell cycle. More...

Genes shared at least 5 GO terms with SMC3 (count: 90)

Gene Symbol	Pathway Count	Pathway List
SMC1A	22	mediator complex binding; cell division; protein heterodimerization activity; meiotic cohesin complex; stem cell maintenance; negative regulation of DNA endoreduplication; meiosis; sister chromatid cohesion; mitotic spindle organization; mitotic metaphase/anaphase transition; nucleoplasm; cytoplasm; DNA repair; protein binding; ATP binding; nucleus; chromatin binding; microtubule motor activity; mitotic prometaphase; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
KIF2C	11	cell division; mitosis; protein binding; ATP binding; nucleus; microtubule motor activity; mitotic prometaphase; mitotic cell cycle; chromosome, centromeric region; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
RAN	10	cell division; signal transduction; mitotic spindle organization; mitosis; nucleoplasm; cytoplasm; protein binding; chromatin binding; chromatin; microtubule cytoskeleton organization;
PLK1	10	mitotic metaphase/anaphase transition; mitosis; nucleoplasm; protein binding; ATP binding; nucleus; spindle pole; mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle;
RCC1	9	cell division; mitotic spindle organization; mitosis; nucleoplasm; cytoplasm; protein binding; nucleus; chromatin binding; microtubule cytoskeleton organization;
PAFAH1B1	8	dynein binding; cytoplasm; protein binding; nucleus; mitotic prometaphase; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
KIF11	8	cell division; mitotic spindle organization; mitosis; cytoplasm; ATP binding; spindle pole; microtubule motor activity; microtubule cytoskeleton organization;
NUMA1	8	cell division; nuclear matrix; nucleoplasm; cytoplasm; protein binding; nucleus; spindle pole; mitotic cell cycle;
SMC2	8	cell division; protein heterodimerization activity; sister chromatid cohesion; cytoplasm; DNA repair; protein binding; ATP binding; nucleus;
ZW10	8	cell division; meiosis; protein binding; nucleus; spindle pole; mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle;
MEN1	8	nuclear matrix; nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus; chromatin binding; chromatin;
KIF23	8	nucleoplasm; protein binding; ATP binding; nucleus; microtubule motor activity; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
KATNB1	7	dynein binding; cell division; protein heterodimerization activity; mitosis; cytoplasm; spindle pole; microtubule cytoskeleton organization;
CDCA5	7	cell division; cohesin complex; mitosis; cytoplasm; protein binding; nucleus; chromatin binding;
CENPW	7	cell division; protein heterodimerization activity; nuclear matrix; mitosis; protein binding; mitotic cell cycle; chromosome, centromeric region;
CEP164	7	cell division; mitosis; cytoplasm; DNA repair; protein binding; nucleus; mitotic cell cycle;
CKAP5	7	cell division; protein binding; spindle pole; mitotic prometaphase; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
CLASP2	7	cell division; cytoplasm; protein binding; mitotic prometaphase; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
MAPRE1	7	cell division; cytoplasm; protein binding; mitotic prometaphase; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
PTTG1	7	cell division; mitosis; cytoplasm; DNA repair; protein binding; nucleus; mitotic cell cycle;
NEK6	7	signal transduction; mitosis; cytoplasm; protein binding; ATP binding; nucleus; spindle pole;
KIF22	7	mitosis; cytoplasm; DNA repair; ATP binding; nucleus; microtubule motor activity; chromatin;
CENPC1	6	cell division; cytoplasm; nucleus; mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle;
CLASP1	6	cell division; protein binding; mitotic prometaphase; mitotic cell cycle; microtubule cytoskeleton organization; M phase of mitotic cell cycle;
LATS2	6	cell division; mitosis; protein binding; ATP binding; nucleus; spindle pole;
RBBP8	6	cell division; meiosis; mitosis; DNA repair; protein binding; nucleus;
H2AFX	6	protein heterodimerization activity; meiosis; nucleoplasm; DNA repair; protein binding; nucleus;
NR4A2	6	protein heterodimerization activity; signal transduction; nucleoplasm; cytoplasm; protein binding; nucleus;
MRE11A	6	negative regulation of DNA endoreduplication; sister chromatid cohesion; nucleoplasm; DNA repair; protein binding; nucleus;
CSNK1E	6	signal transduction; DNA repair; protein binding; ATP binding; nucleus; mitotic cell cycle;
MAPK1	6	signal transduction; nucleoplasm; cytoplasm; protein binding; ATP binding; nucleus;
PRKCB	6	signal transduction; cytoplasm; protein binding; ATP binding; nucleus; chromatin binding;
CHEK1	6	nucleoplasm; DNA repair; protein binding; ATP binding; nucleus; chromatin;
PSMC3	6	nucleoplasm; cytoplasm; protein binding; ATP binding; nucleus; mitotic cell cycle;
SSRP1	6	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus; chromatin binding;
XPO1	6	nucleoplasm; cytoplasm; protein binding; mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle;
XRCC5	6	nucleoplasm; cytoplasm; DNA repair; protein binding; ATP binding; nucleus;
INCENP	6	protein binding; lateral element; mitotic prometaphase; mitotic cell cycle; chromosome, centromeric region; M phase of mitotic cell cycle;
MED1	5	mediator complex binding; nucleoplasm; protein binding; nucleus; chromatin binding;
NIPBL	5	mediator complex binding; stem cell maintenance; protein binding; nucleus; chromatin binding;
ANAPC4	5	cell division; mitosis; nucleoplasm; nucleus; mitotic cell cycle;
CCND1	5	cell division; nucleoplasm; protein binding; nucleus; mitotic cell cycle;
CDC25B	5	cell division; mitosis; nucleoplasm; spindle pole; mitotic cell cycle;
CDC26	5	cell division; mitosis; nucleoplasm; protein binding; mitotic cell cycle;
CDK20	5	cell division; cytoplasm; protein binding; ATP binding; nucleus;
LATS1	5	cell division; mitosis; protein binding; ATP binding; spindle pole;
NDE1	5	cell division; protein binding; mitotic prometaphase; mitotic cell cycle; M phase of mitotic cell cycle;
BARD1	5	protein heterodimerization activity; cytoplasm; DNA repair; protein binding; nucleus;
BNIP3	5	protein heterodimerization activity; nucleoplasm; cytoplasm; protein binding; nucleus;
ERBB2	5	protein heterodimerization activity; signal transduction; protein binding; ATP binding; nucleus;
POLA2	5	protein heterodimerization activity; nucleoplasm; cytoplasm; nucleus; mitotic cell cycle;
REC8	5	nuclear meiotic cohesin complex; meiosis; sister chromatid cohesion; nucleus; lateral element;
APBB1	5	signal transduction; cytoplasm; protein binding; nucleus; chromatin binding;
ATM	5	signal transduction; nucleoplasm; DNA repair; protein binding; ATP binding;
MAPK7	5	signal transduction; nucleoplasm; protein binding; ATP binding; nucleus;
PGR	5	signal transduction; nucleoplasm; cytoplasm; protein binding; nucleus;
PRKAA1	5	signal transduction; protein binding; ATP binding; nucleus; chromatin binding;
PRKD1	5	signal transduction; cytoplasm; protein binding; ATP binding; nucleus;
AURKC	5	meiosis; cytoplasm; ATP binding; nucleus; chromosome, centromeric region;
ATXN1	5	nuclear matrix; nucleoplasm; cytoplasm; protein binding; nucleus;
ERCC8	5	nuclear matrix; nucleoplasm; DNA repair; protein binding; nucleus;
SNW1	5	nuclear matrix; nucleoplasm; protein binding; nucleus; chromatin;
APC	5	mitotic metaphase/anaphase transition; cytoplasm; protein binding; nucleus; microtubule cytoskeleton organization;
CDC45	5	nucleoplasm; cytoplasm; protein binding; nucleus; mitotic cell cycle;
CENPP	5	nucleoplasm; mitotic prometaphase; mitotic cell cycle; chromosome, centromeric region; M phase of mitotic cell cycle;
DDB1	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
DHX9	5	nucleoplasm; cytoplasm; protein binding; ATP binding; nucleus;
FANCA	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
FANCC	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
FEN1	5	nucleoplasm; DNA repair; protein binding; nucleus; mitotic cell cycle;
HINFP	5	nucleoplasm; DNA repair; protein binding; nucleus; chromatin binding;
NCOA6	5	nucleoplasm; DNA repair; protein binding; nucleus; chromatin binding;
NCOR1	5	nucleoplasm; cytoplasm; protein binding; nucleus; chromatin binding;
POLD3	5	nucleoplasm; DNA repair; protein binding; nucleus; mitotic cell cycle;
POLD4	5	nucleoplasm; DNA repair; protein binding; nucleus; mitotic cell cycle;
POLE	5	nucleoplasm; DNA repair; nucleus; chromatin binding; mitotic cell cycle;
RAD23B	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
RAD9A	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
RELA	5	nucleoplasm; cytoplasm; protein binding; nucleus; chromatin binding;
TP53BP1	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
TRIP12	5	nucleoplasm; cytoplasm; DNA repair; protein binding; nucleus;
YAP1	5	nucleoplasm; cytoplasm; protein binding; nucleus; chromatin binding;
CDK5RAP2	5	cytoplasm; protein binding; spindle pole; mitotic cell cycle; microtubule cytoskeleton organization;
CHD1L	5	cytoplasm; DNA repair; protein binding; ATP binding; nucleus;
IGHMBP2	5	cytoplasm; DNA repair; protein binding; ATP binding; nucleus;
PRC1	5	cytoplasm; protein binding; nucleus; spindle pole; microtubule cytoskeleton organization;
SMG1	5	cytoplasm; DNA repair; protein binding; ATP binding; nucleus;
UXT	5	cytoplasm; protein binding; nucleus; chromatin binding; microtubule cytoskeleton organization;
TUBGCP2	5	protein binding; nucleus; spindle pole; mitotic cell cycle; microtubule cytoskeleton organization;
CENPL	5	nucleus; mitotic prometaphase; mitotic cell cycle; chromosome, centromeric region; M phase of mitotic cell cycle;

Genes shared at least 2 KEGG pathways with SMC3 (count: 7)

Gene Symbol	Pathway Count	Pathway List
ANAPC4	2	Cell cycle; Oocyte meiosis;
CDC26	2	Cell cycle; Oocyte meiosis;
PLK1	2	Cell cycle; Oocyte meiosis;
PTTG1	2	Cell cycle; Oocyte meiosis;
SMC1A	2	Cell cycle; Oocyte meiosis;
YWHAH	2	Cell cycle; Oocyte meiosis;
YWHAQ	2	Cell cycle; Oocyte meiosis;

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Region: chr10:112327449..112364394 View in gBrowse