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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	55719
Gene name	SMC5/6 complex localization factor 2
Gene symbol	SLF2
Synonyms (NCBI Gene)	ATELS1C10orf6FAM178AhNSE6
Chromosome	10
Chromosome location	10q24.31

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	NAS	16810316
GO:0000781	Component	Chromosome, telomeric region	NAS	17589526
GO:0000785	Component	Chromatin	IDA	24561620
GO:0005515	Function	Protein binding	IPI	25931565, 26496610, 32296183, 32389690, 33961781, 36373674
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	24561620
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	25931565
GO:0006974	Process	DNA damage response	IEA
GO:0016605	Component	PML body	IDA	36373674
GO:0016605	Component	PML body	IEA
GO:0016925	Process	Protein sumoylation	NAS	32389690
GO:0030915	Component	Smc5-Smc6 complex	NAS	32389690
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IMP	25931565
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	25931565
GO:0032204	Process	Regulation of telomere maintenance	NAS	17589526
GO:0034184	Process	Positive regulation of maintenance of mitotic sister chromatid cohesion	IMP	25931565
GO:0035861	Component	Site of double-strand break	IBA
GO:0035861	Component	Site of double-strand break	IDA	25931565
GO:0044877	Function	Protein-containing complex binding	IPI	25931565
GO:0140588	Process	Chromatin looping	NAS	32389690
GO:1990166	Process	Protein localization to site of double-strand break	IBA
GO:1990166	Process	Protein localization to site of double-strand break	IDA	25931565
GO:2000781	Process	Positive regulation of double-strand break repair	IBA
GO:2000781	Process	Positive regulation of double-strand break repair	IDA	25931565

MIM	HGNC	e!Ensembl
610348	17814	ENSG00000119906

Q8IX21

Protein name

SMC5-SMC6 complex localization factor protein 2 (Smc5/6 localization factor 1)

Protein function

Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-

PDB

7T5P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14816	FAM178	657 → 1031	Family of unknown function, FAM178	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:12459258, PubMed:36333305). Expressed at higher level in skeletal muscle and at slightly lower level in brain, liver and heart, than in lung, kidney, spleen and thymus (PubMed:12459258). {ECO:0000269|PubMed:124

Sequence

MTRRCMPARPGFPSSPAPGSSPPRCHLRPGSTAHAAAGKRTESPGDRKQSIIDFFKPASK
QDRHMLDSPQKSNIKYGGSRLSITGTEQFERKLSSPKESKPKRVPPEKSPIIEAFMKGVK
EHHEDHGIHESRRPCLSLASKYLAKGTNIYVPSSYHLPKEMKSLKKKHRSPERRKSLFIH
ENNEKNDRDRGKTNADSKKQTTVAEADIFNNSSRSLSSRSSLSRHHPEESPLGAKFQLSL
ASYCRERELKRLRKEQMEQRINSENSFSEASSLSLKSSIERKYKPRQEQRKQNDIIPGKN
NLSNVENGHLSRKRSSSDSWEPTSAGSKQNKFPEKRKRNSVDSDLKSTRESMIPKARESF
LEKRPDGPHQKEKFIKHIALKTPGDVLRLEDISKEPSDETDGSSAGLAPSNSGNSGHHST
RNSDQIQVAGTKETKMQKPHLPLSQEKSAIKKASNLQKNKTASSTTKEKETKLPLLSRVP
SAGSSLVPLNAKNCALPVSKKDKERSSSKECSGHSTESTKHKEHKAKTNKADSNVSSGKI
SGGPLRSEYGTPTKSPPAALEVVPCIPSPAAPSDKAPSEGESSGNSNAGSSALKRKLRGD
FDSDEESLGYNLDSDEEEETLKSLEEIMALNFNQTPAATGKPPALSKGLRSQSSDYTGHV
HPGTYTNTLERLVKEMEDTQRLDELQKQLQEDIRQGRGIKSPIRIGEEDSTDDEDGLLEE
HKEFLKKFSVTIDAIPDHHPGEEIFNFLNSGKIFNQYTLDLRDSGFIGQSAVEKLILKSG
KTDQIFLTTQGFLTSAYHYVQCPVPVLKWLFRMMSVHTDCIVSVQILSTLMEITIRNDTF
SDSPVWPWIPSLSDVAAVFFNMGIDFRSLFPLENLQPDFNEDYLVSETQTTSRGKESEDS
SYKPIFSTLPETNILNVVKFLGLCTSIHPEGYQDREIMLLILMLFKMSLEKQLKQIPLVD
FQSLLINLMKNIRDWNTKVPELCLGINELSSHPHNLLWLVQLVPNWTSRGRQLRQCLSLV
IISKLLDEKHEDVPNASNLQVSVLHRYLVQMKPSDLLKKMVLKKKAEQPDGIIDDSLHLE
LEKQAYYLTYILLHLVGEVSCSHSFSSGQRKHFVLLCGALEKHVKCDIREDARLFYRTKV
KDLVARIHGKWQEIIQNCRPTQGQLHDFWVPDS

Sequence length

1173

Interactions

View interactions

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atelis syndrome 1	Pathogenic	rs2493361251, rs1266675910, rs2493419778, rs2493386649, rs1212696529	RCV003152316 RCV003152317 RCV003152318 RCV003152319 RCV003152320	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

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.
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLF2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Anemia	Associate	36333305	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	37485814	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Associate	36333305	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	36333305	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma B Cell	Associate	37485814	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	36333305	★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial lissencephaly	Associate	36333305	★★★★★ ★☆☆☆☆ Found in Text Mining only
Personality Disorders	Associate	37485814	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndrome	Associate	36333305	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLF2 (SMC5/6 complex localization factor 2)