Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10592
Gene name Gene Name - the full gene name approved by the HGNC.
Structural maintenance of chromosomes 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMC2
Synonyms (NCBI Gene) Gene synonyms aliases
CAP-E, CAPE, SMC-2, SMC2L1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000228 Component Nuclear chromosome IDA 10958694
GO:0000793 Component Condensed chromosome IDA 12589063
GO:0000796 Component Condensin complex IDA 9789013, 10958694, 11136719
GO:0003682 Function Chromatin binding IEA
GO:0003697 Function Single-stranded DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605576 14011 ENSG00000136824
Protein
UniProt ID 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
PF06470 SMC_hinge 519 640 SMC proteins Flexible Hinge Domain Domain
PF02463 SMC_N 721 1167 RecF/RecN/SMC N terminal domain Domain
Sequence
MHIKSIILEGFKSYAQRTEVNGFDPLFNAITGLNGSGKSNILDSICFLLGISNLSQVRAS
NLQDLVYKNGQAGITKASVSITFDNSDKKQSPLGFEVHDEITVTRQVVIGGRNKYLINGV
NANNTRVQDLFCSVGLNVNNPHFLIMQGRITKVLNMKPPEILSMIEEAAGTRMYEYKKIA
AQKTIEKKEAKLKEIKTILEEEITPTIQKLKEERSSYLEYQKVMREIEHLSRLYIAYQFL
LAEDTKVRSAEELKEMQDKVIKLQEELSENDKKIKALNHEIEELEKRKDKETGGILRSLE
DALAEAQRVNTKSQSAFDLKKKNLACEESKRKELEKNMVEDSKTLAAKEKEVKKITDGLH
ALQEASNKDAEALAAAQQHFNAVSAGLSSNEDGAEATLAGQMMACKNDISKAQTEAKQAQ
MKLKHAQQELKNKQAEVKKMDSGYRKDQEALEAVKRLKEKLEAEMKKLNYEENKEESLLE
KRRQLSRDIGRLKETYEALLARFPNLRFAYKDPEKNWN
RNCVKGLVASLISVKDTSATTA
LELVAGERLYNVVVDTEVTGKKLLERGELKRRYTIIPLNKISARCIAPETLRVAQNLVGP
DNVHVALSLVEYKPELQKAMEFVFGTTFVCDNMDNAKKVA
FDKRIMTRTVTLGGDVFDPH
GTLSGGARSQAASILTKFQELK
DVQDELRIKENELRALEEELAGLKNTAEKYRQLKQQWE
MKTEEADLLQTKLQQSSYHKQQEELDALKKTIEESEETLKNTKEIQRKAEEKYEVLENKM
KNAEAERERELKDAQKKLDCAKTKADASSKKMKEKQQEVEAITLELEELKREHTSYKQQL
EAVNEAIKSYESQIEVMAAEVAKNKESVNKAQEEVTKQKEVITAQDTVIKAKYAEVAKHK
EQNNDSQLKIKELDHNISKHKREAEDGAAKVSKMLKDYDWINAERHLFGQPNSAYDFKTN
NPKEAGQRLQKLQEMKEKLGRNVNMRAMNVLTEAEERYNDLMKKKRIVENDKSKILTTIE
DLDQKKNQALNIAWQKVNKDFGSIFSTLLPGANAMLAPPEGQTVLDGLEFKVALGNTWKE
NLTELSGGQRSLVALSLILSMLLFKPAPIYILDEVDAALDLSHTQNIGQMLRTHFTHSQF
IVVSLKEGMFNNANVLFKTKFVDGVST
VARFTQCQNGKISKEAKSKAKPPKGAHVEV
Sequence length 1197
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Condensation of Prophase Chromosomes
Condensation of Prometaphase Chromosomes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 27935865
Unknown
Disease term Disease name Evidence References Source
Pancreatic adenocarcinoma Pancreatic adenocarcinoma PDAC patients with high expression of PSMA6 having a significantly shorter overall survival rate. GWAS, CBGDA
Breast cancer Breast cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 38102665
Carcinoma Hepatocellular Stimulate 36281130
Cleft Palate Associate 31262291
Colonic Diseases Associate 38102665
De Lange Syndrome Associate 25591769
Hereditary Breast and Ovarian Cancer Syndrome Associate 27432226
Leukemia Associate 29139328
Lung Diseases Associate 38102665
Neoplasms Associate 33460400, 36281130, 38102665
Ovarian Neoplasms Associate 27432226, 33563317