• Gene id: 10592

Gene Summary

• Gene Symbol: SMC2   Gene   UCSC   Ensembl
• Aliases: CAP-E, CAPE, SMC-2, SMC2L1
• Gene name: structural maintenance of chromosomes 2
• Alternate names: structural maintenance of chromosomes protein 2, SMC protein 2, SMC2 (structural maintenance of chromosomes 2, yeast)-like 1, XCAP-E homolog, chromosome-associated protein E, structural maintenance of chromosomes (SMC) family member, chromosome-associated prot,
• Gene location: 9q31.1 (104093759: 104141418)     Exons: 29     NC_000009.12
• OMIM: 608655

Protein Summary

• Protein general information: O95347  
  • Name: Structural maintenance of chromosomes protein 2 (SMC protein 2) (SMC 2) (Chromosome associated protein E) (hCAP E) (XCAP E homolog)
  • Length: 1197  
  • Mass: 135656
• Sequence:

  MHIKSIILEGFKSYAQRTEVNGFDPLFNAITGLNGSGKSNILDSICFLLGISNLSQVRASNLQDLVYKNGQAGIT
  KASVSITFDNSDKKQSPLGFEVHDEITVTRQVVIGGRNKYLINGVNANNTRVQDLFCSVGLNVNNPHFLIMQGRI
  TKVLNMKPPEILSMIEEAAGTRMYEYKKIAAQKTIEKKEAKLKEIKTILEEEITPTIQKLKEERSSYLEYQKVMR
  EIEHLSRLYIAYQFLLAEDTKVRSAEELKEMQDKVIKLQEELSENDKKIKALNHEIEELEKRKDKETGGILRSLE
  DALAEAQRVNTKSQSAFDLKKKNLACEESKRKELEKNMVEDSKTLAAKEKEVKKITDGLHALQEASNKDAEALAA
  AQQHFNAVSAGLSSNEDGAEATLAGQMMACKNDISKAQTEAKQAQMKLKHAQQELKNKQAEVKKMDSGYRKDQEA
  LEAVKRLKEKLEAEMKKLNYEENKEESLLEKRRQLSRDIGRLKETYEALLARFPNLRFAYKDPEKNWNRNCVKGL
  VASLISVKDTSATTALELVAGERLYNVVVDTEVTGKKLLERGELKRRYTIIPLNKISARCIAPETLRVAQNLVGP
  DNVHVALSLVEYKPELQKAMEFVFGTTFVCDNMDNAKKVAFDKRIMTRTVTLGGDVFDPHGTLSGGARSQAASIL
  TKFQELKDVQDELRIKENELRALEEELAGLKNTAEKYRQLKQQWEMKTEEADLLQTKLQQSSYHKQQEELDALKK
  TIEESEETLKNTKEIQRKAEEKYEVLENKMKNAEAERERELKDAQKKLDCAKTKADASSKKMKEKQQEVEAITLE
  LEELKREHTSYKQQLEAVNEAIKSYESQIEVMAAEVAKNKESVNKAQEEVTKQKEVITAQDTVIKAKYAEVAKHK
  EQNNDSQLKIKELDHNISKHKREAEDGAAKVSKMLKDYDWINAERHLFGQPNSAYDFKTNNPKEAGQRLQKLQEM
  KEKLGRNVNMRAMNVLTEAEERYNDLMKKKRIVENDKSKILTTIEDLDQKKNQALNIAWQKVNKDFGSIFSTLLP
  GANAMLAPPEGQTVLDGLEFKVALGNTWKENLTELSGGQRSLVALSLILSMLLFKPAPIYILDEVDAALDLSHTQ
  NIGQMLRTHFTHSQFIVVSLKEGMFNNANVLFKTKFVDGVSTVARFTQCQNGKISKEAKSKAKPPKGAHVEV

• Structural information:
  • Protein Domains: (522..64-)
    (/note="SMC-hinge")
  • Interpro: IPR027417  IPR003395  IPR024704  IPR027120  IPR010935   IPR036277  
  • CDD: cd03273
  • PDB: 4U4P
  • PDBsum: 4U4P
  • DIP: 35422
  • STRING: ENSP00000286398
• Other Databases: GeneCards:  SMC2  Malacards:  SMC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0051276	chromosome organization	IEA	biological process
GO:0030261	chromosome condensation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007076	mitotic chromosome condensation	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000793	condensed chromosome	IEA	cellular component
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0000796	condensin complex	IEA	cellular component
GO:0010032	meiotic chromosome condensation	IEA	biological process
GO:0045132	meiotic chromosome segregation	IEA	biological process
GO:0051383	kinetochore organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0007076	mitotic chromosome condensation	IDA	biological process
GO:0000796	condensin complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0000796	condensin complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000793	condensed chromosome	IDA	cellular component
GO:0000797	condensin core heterodimer	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray