Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 10592
Gene name Structural maintenance of chromosomes 2
Gene symbol SMC2
Synonyms (NCBI Gene)
CAP-ECAPESMC-2SMC2L1
Chromosome 9
Chromosome location 9q31.1
miRNA miRNA information provided by mirtarbase database.
174 Show/Hide all (174)
miRTarBase ID miRNA Experiments Reference
MIRT024482 hsa-miR-215-5p Microarray 19074876
MIRT026232 hsa-miR-192-5p Microarray 19074876
MIRT046008 hsa-miR-125b-5p CLASH 23622248
MIRT722085 hsa-miR-2681-3p HITS-CLIP 19536157
MIRT722084 hsa-miR-96-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46 Show/Hide all (46)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000228 Component Nuclear chromosome IDA 10958694
GO:0000228 Component Nuclear chromosome IEA
GO:0000280 Process Nuclear division IEA
GO:0000785 Component Chromatin IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605576 14011 ENSG00000136824
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95347
Protein name Structural maintenance of chromosomes protein 2 (SMC protein 2) (SMC-2) (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog)
Protein function Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type
PDB 4U4P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02463 SMC_N 2 → 682 RecF/RecN/SMC N terminal domain Domain
PF02463 SMC_N 721 → 1167 RecF/RecN/SMC N terminal domain Domain
PF06470 SMC_hinge 519 → 640 SMC proteins Flexible Hinge Domain Domain
Sequence
Sequence length 1197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Condensation of Prophase Chromosomes
Condensation of Prometaphase Chromosomes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
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)
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.
Show/Hide Unknown Diseases (37)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS — GWAS catalog 37038246
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA — GWAS catalog 31174203, 33549134, 36496446, 38182794
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER — GWAS catalog 34290314
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 29059683, 32424353, 36819030
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations