Gene Gene information from NCBI Gene database.
Entrez ID 23137
Gene name Structural maintenance of chromosomes 5
Gene symbol SMC5
Synonyms (NCBI Gene)
ATELS2SMC5L1
Chromosome 9
Chromosome location 9q21.12
miRNA miRNA information provided by mirtarbase database.
376
miRTarBase ID miRNA Experiments Reference
MIRT030957 hsa-miR-21-5p Other 20371612
MIRT544396 hsa-miR-7844-5p PAR-CLIP 21572407
MIRT544395 hsa-miR-708-3p PAR-CLIP 21572407
MIRT544394 hsa-miR-28-3p PAR-CLIP 21572407
MIRT544393 hsa-miR-570-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
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 IMP 16810316
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609386 20465 ENSG00000198887
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IY18
Protein name Structural maintenance of chromosomes protein 5 (SMC protein 5) (SMC-5) (hSMC5)
Protein function Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to doubl
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02463 SMC_N 52 1070 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
MATPSKKTSTPSPQPSKRALPRDPSSEVPSKRKNSAPQLPLLQSSGPFVEGSIVRISMEN
FLTYDICEVSPGPHLNMIVGANGTGKSSIVCAICLGLAGKPAFMGRADKVGFFVKRGCSR
GMVEIELFRASGNLVITREIDVAKNQSFWFINKKSTTQKIVEEKVAALNIQVGNLCQFLP
QDKVGEFAKLSKIELLEATEKSIGPPEMHKYHCELKNLREKEKQLETSCKEKTEYLQKMV
QRNERYKQDVERFYERKRHLDLIEMLEAKRPWVEYENVRQEYEEVKLVRDRVKEEVRKLK
EGQIPVTCRIEEMENERHNLEARIKEKATDIKEASQKCKQKQDVIERKDKHIEELQQALI
VKQNEELDRQRRIGNTRKMIEDLQNELKTTENCENLQPQIDAITNDLRRIQDEKALCEGE
IIDKRRERETLEKEKKSVDDHIVRFDNLMNQKEDKLRQRFRDTYDAVLWLRNNRDKFKQR
VCEPIMLTINMKDNKNAKYIENHIPSNDLRAFVFESQEDMEVFLKEVRDNKKLRVNAVIA
PKSSYADKAPSRSLNELKQYGFFSYLRELFDAPDPVMSYLCCQYHIHEVPVGTEKTRERI
ERVIQETRLKQIYTAEEKYVVKTSFYSNKVISSNTSLKVAQFLTVTVDLEQRRHLEEQLK
EIHRKLQAVDSGLIALRETSKHLEHKDNELRQKKKELLERKTKKRQLEQKISSKLGSLKL
MEQDTCNLEEEERKASTKIKEINVQKAKLVTELTNLIKICTSLHIQKVDLILQNTTVISE
KNKLESDYMAASSQLRLTEQHFIELDENRQRLLQKCKELMKRARQVCNLGAEQTLPQEYQ
TQVPTIPNGHNSSLPMVFQDLPNTLDEIDALLTEERSRASCFTGLNPTIVQEYTKREEEI
EQLTEELKGKKVELDQYRENISQVKERWLNPLKELVEKINEKFSNFFSSMQCAGEVDLHT
ENEEDYDKYGIRIRVKFRSSTQLHELTPHHQSGGERSVSTMLYLMALQELNRCPFRVVDE
INQGMDPINERRVFEMVVNTACKENTSQYFFITPKLLQNLPYSEKMTVLF
VYNGPHMLEP
NTWNLKAFQRRRRRITFTQPS
Sequence length 1101
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of DNA damage response and repair proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Atelis syndrome 2 Pathogenic rs2489528087, rs1429544702, rs751830146 RCV003152313
RCV003152314
RCV003152315
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia Anemia Pubtator 36333305 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Abnormalities Cardiovascular abnormalities Pubtator 36333305 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 29848583
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 29848583
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35894836 Inhibit
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 36333305 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28368357, 31600532
★☆☆☆☆
Found in Text Mining only
Lung diseases Lung Diseases BEFREE 27427983
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 27427983 Associate
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 29848583
★☆☆☆☆
Found in Text Mining only