Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79677
Gene name	Structural maintenance of chromosomes 6
Gene symbol	SMC6
Synonyms (NCBI Gene)	SMC-6SMC6L1hSMC6
Chromosome	2
Chromosome location	2p24.2

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046627	hsa-miR-222-3p	CLASH	23622248
MIRT045948	hsa-miR-125b-5p	CLASH	23622248
MIRT1372525	hsa-miR-182	CLIP-seq
MIRT1372526	hsa-miR-204	CLIP-seq
MIRT1372527	hsa-miR-211	CLIP-seq
MIRT1372528	hsa-miR-3678-5p	CLIP-seq
MIRT1372529	hsa-miR-3938	CLIP-seq
MIRT1372530	hsa-miR-4255	CLIP-seq
MIRT1372531	hsa-miR-4276	CLIP-seq
MIRT1372532	hsa-miR-4302	CLIP-seq
MIRT1372533	hsa-miR-4470	CLIP-seq
MIRT1372534	hsa-miR-4711-3p	CLIP-seq
MIRT1372535	hsa-miR-4715-5p	CLIP-seq
MIRT1372536	hsa-miR-4755-5p	CLIP-seq
MIRT1372537	hsa-miR-4780	CLIP-seq
MIRT1372538	hsa-miR-623	CLIP-seq
MIRT1372539	hsa-miR-1279	CLIP-seq
MIRT1372540	hsa-miR-3647-3p	CLIP-seq
MIRT1372541	hsa-miR-4691-5p	CLIP-seq
MIRT1372542	hsa-miR-4762-3p	CLIP-seq
MIRT1372543	hsa-miR-4766-5p	CLIP-seq
MIRT1372544	hsa-miR-4778-3p	CLIP-seq
MIRT2110657	hsa-miR-1238	CLIP-seq
MIRT2110658	hsa-miR-3124-3p	CLIP-seq
MIRT2110659	hsa-miR-3690	CLIP-seq
MIRT2110660	hsa-miR-4254	CLIP-seq
MIRT2110661	hsa-miR-4446-5p	CLIP-seq
MIRT1372541	hsa-miR-4691-5p	CLIP-seq
MIRT2110662	hsa-miR-4719	CLIP-seq
MIRT2110663	hsa-miR-500a	CLIP-seq
MIRT2110664	hsa-miR-875-3p	CLIP-seq
MIRT2334052	hsa-miR-1261	CLIP-seq
MIRT2334053	hsa-miR-1269	CLIP-seq
MIRT2334054	hsa-miR-1269b	CLIP-seq
MIRT2334055	hsa-miR-1273g	CLIP-seq
MIRT2334056	hsa-miR-1288	CLIP-seq
MIRT2334057	hsa-miR-132	CLIP-seq
MIRT2334058	hsa-miR-2114	CLIP-seq
MIRT2334059	hsa-miR-212	CLIP-seq
MIRT2334060	hsa-miR-219-5p	CLIP-seq
MIRT2334061	hsa-miR-3180-5p	CLIP-seq
MIRT2334062	hsa-miR-3201	CLIP-seq
MIRT2110659	hsa-miR-3690	CLIP-seq
MIRT2334063	hsa-miR-378	CLIP-seq
MIRT2334064	hsa-miR-378b	CLIP-seq
MIRT2334065	hsa-miR-378c	CLIP-seq
MIRT2334066	hsa-miR-378d	CLIP-seq
MIRT2334067	hsa-miR-378e	CLIP-seq
MIRT2334068	hsa-miR-378f	CLIP-seq
MIRT2334069	hsa-miR-378h	CLIP-seq
MIRT2334070	hsa-miR-378i	CLIP-seq
MIRT2334071	hsa-miR-422a	CLIP-seq
MIRT2334072	hsa-miR-4259	CLIP-seq
MIRT2334073	hsa-miR-4292	CLIP-seq
MIRT2334074	hsa-miR-4307	CLIP-seq
MIRT2334075	hsa-miR-4308	CLIP-seq
MIRT2334076	hsa-miR-4445	CLIP-seq
MIRT2110661	hsa-miR-4446-5p	CLIP-seq
MIRT2334077	hsa-miR-4515	CLIP-seq
MIRT2334078	hsa-miR-4645-5p	CLIP-seq
MIRT2334079	hsa-miR-4673	CLIP-seq
MIRT1372535	hsa-miR-4715-5p	CLIP-seq
MIRT2334080	hsa-miR-4740-5p	CLIP-seq
MIRT2334081	hsa-miR-4782-3p	CLIP-seq
MIRT2334082	hsa-miR-4791	CLIP-seq
MIRT2334083	hsa-miR-508-3p	CLIP-seq
MIRT2334084	hsa-miR-579	CLIP-seq
MIRT2440569	hsa-miR-1271	CLIP-seq
MIRT1372525	hsa-miR-182	CLIP-seq
MIRT2440570	hsa-miR-3545-3p	CLIP-seq
MIRT1372533	hsa-miR-4470	CLIP-seq
MIRT2334084	hsa-miR-579	CLIP-seq
MIRT2440571	hsa-miR-96	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000217	Function	DNA secondary structure binding	IDA	28095508
GO:0000722	Process	Telomere maintenance via recombination	IMP	17589526
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	16810316
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	IDA	17589526
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	NAS	17589526
GO:0000803	Component	Sex chromosome	IEA
GO:0000803	Component	Sex chromosome	ISS
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	11408570, 14701739, 15601840, 18086888, 25931565, 26496610, 27427983, 32389690, 33961781, 36373674
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	28095508
GO:0005634	Component	Nucleus	IDA	11408570
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IDA	11408570, 25931565
GO:0006974	Process	DNA damage response	IEA
GO:0016605	Component	PML body	IDA	17589526, 36373674
GO:0016605	Component	PML body	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016925	Process	Protein sumoylation	NAS	32389690
GO:0030915	Component	Smc5-Smc6 complex	IBA
GO:0030915	Component	Smc5-Smc6 complex	IDA	18086888
GO:0030915	Component	Smc5-Smc6 complex	IEA
GO:0030915	Component	Smc5-Smc6 complex	NAS	32389690
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	25931565
GO:0032204	Process	Regulation of telomere maintenance	NAS	17589526
GO:0035061	Component	Interchromatin granule	IDA	11408570
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	25931565
GO:0044828	Process	Host-mediated suppression of viral genome replication	IDA	28095508
GO:0051984	Process	Positive regulation of chromosome segregation	IMP	25931565
GO:0090398	Process	Cellular senescence	IMP	17589526
GO:0097431	Component	Mitotic spindle pole	IEA
GO:0098687	Component	Chromosomal region	IEA
GO:0140588	Process	Chromatin looping	NAS	32389690

MIM	HGNC	e!Ensembl
609387	20466	ENSG00000163029

Q96SB8

Protein name

Structural maintenance of chromosomes protein 6 (SMC protein 6) (SMC-6) (hSMC6)

Protein function

Core component of the SMC5-SMC6 complex, a complex involved in DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand b

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02463	SMC_N	47 → 1071	RecF/RecN/SMC N terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:11408570). Strongly expressed in testis (PubMed:11408570). {ECO:0000269|PubMed:11408570}.

Sequence

MAKRKEENFSSPKNAKRPRQEELEDFDKDGDEDECKGTTLTAAEVGIIESIHLKNFMCHS
MLGPFKFGSNVNFVVGNNGSGKSAVLTALIVGLGGRAVATNRGSSLKGFVKDGQNSADIS
ITLRNRGDDAFKASVYGNSILIQQHISIDGSRSYKLKSATGSVVSTRKEELIAILDHFNI
QVDNPVSVLTQEMSKQFLQSKNEGDKYKFFMKATQLEQMKEDYSYIMETKERTKEQIHQG
EERLTELKRQCVEKEERFQSIAGLSTMKTNLESLKHEMAWAVVNEIEKQLNAIRDNIKIG
EDRAARLDRKMEEQQVRLNEAEQKYKDIQDKLEKISEETNARAPECMALKADVVAKKRAY
NEAEVLYNRSLNEYKALKKDDEQLCKRIEELKKSTDQSLEPERLERQKKISWLKERVKAF
QNQENSVNQEIEQFQQAIEKDKEEHGKIKREELDVKHALSYNQRQLKELKDSKTDRLKRF
GPNVPALLEAIDDAYRQGHFTYKPVGPLGACIHLRDPELALAIESCLKGLLQAYCCHNHA
DERVLQALMKRFYLPGTSRPPIIVSEFRNEIYDVRHRAAYHPDFPTVLTALEIDNAVVAN
SLIDMRGIETVLLIKNNSVARAVMQSQKPPKNCREAFTADGDQVFAGRYYSSENTRPKFL
SRDVDSEISDLENEVENKTAQILNLQQHLSALEKDIKHNEELLKRCQLHYKELKMKIRKN
ISEIRELENIEEHQSVDIATLEDEAQENKSKMKMVEEHMEQQKENMEHLKSLKIEAENKY
DAIKFKINQLSELADPLKDELNLADSEVDNQKRGKRHYEEKQKEHLDTLNKKKRELDMKE
KELEEKMSQARQICPERIEVEKSASILDKEINRLRQKIQAEHASHGDREEIMRQYQEARE
TYLDLDSKVRTLKKFIKLLGEIMEHRFKTYQQFRRCLTLRCKLYFDNLLSQRAYCGKMNF
DHKNETLSISVQPGEGNKAAFNDMRALSGGERSFSTVCFILSLWSIAESPFRCLDEFDVY
MDMVNRRIAMDLILKMADSQRFRQFILLTPQSMSSLPSSKLIRILRMSDPERGQTTLPFR
PVTQEEDDDQR

Sequence length

1091

Interactions

View interactions

	Reactome
			SUMOylation of DNA damage response and repair proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	Pubtator	36333305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21607584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21607584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36281130	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	36333305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27427983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21607584		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33460400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SMC6 (structural maintenance of chromosomes 6)