• Gene id: 6601

Gene Summary

• Gene Symbol: SMARCC2   Gene   UCSC   Ensembl
• Aliases: BAF170, CRACC2, CSS8, Rsc8
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
• Alternate names: SWI/SNF complex subunit SMARCC2, SWI/SNF complex 170 kDa subunit, SWI3-like protein, chromatin remodeling complex BAF170 subunit, mammalian chromatin remodeling complex BRG1-associated factor 170,
• Gene location: 12q13.2 (56189503: 56162358)     Exons: 1     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T
• OMIM: 601734

Protein Summary

• Protein general information: Q8TAQ2  
  • Name: SWI/SNF complex subunit SMARCC2 (BRG1 associated factor 170) (BAF170) (SWI/SNF complex 170 kDa subunit) (SWI/SNF related matrix associated actin dependent regulator of chromatin subfamily C member 2)
  • Length: 1214  
  • Mass: 132879
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MAVRKKDGGPNVKYYEAADTVTQFDNVRLWLGKNYKKYIQAEPPTNKSLSSLVVQLLQFQEEVFGKHVSNAPLTK
  LPIKCFLDFKAGGSLCHILAAAYKFKSDQGWRRYDFQNPSRMDRNVEMFMTIEKSLVQNNCLSRPNIFLCPEIEP
  KLLGKLKDIIKRHQGTVTEDKNNASHVVYPVPGNLEEEEWVRPVMKRDKQVLLHWGYYPDSYDTWIPASEIEASV
  EDAPTPEKPRKVHAKWILDTDTFNEWMNEEDYEVNDDKNPVSRRKKISAKTLTDEVNSPDSDRRDKKGGNYKKRK
  RSPSPSPTPEAKKKNAKKGPSTPYTKSKRGHREEEQEDLTKDMDEPSPVPNVEEVTLPKTVNTKKDSESAPVKGG
  TMTDLDEQEDESMETTGKDEDENSTGNKGEQTKNPDLHEDNVTEQTHHIIIPSYAAWFDYNSVHAIERRALPEFF
  NGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLAGDVCAIMRVHAFLEQWGLINYQVDAESRPTPMGP
  PPTSHFHVLADTPSGLVPLQPKTPQQTSASQQMLNFPDKGKEKPTDMQNFGLRTDMYTKKNVPSKSKAAASATRE
  WTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLEDSEASLGPLAYQPIPFSQSGNPVMS
  TVAFLASVVDPRVASAAAKSALEEFSKMKEEVPTALVEAHVRKVEEAAKVTGKADPAFGLESSGIAGTTSDEPER
  IEESGNDEARVEGQATDEKKEPKEPREGGGAIEEEAKEKTSEAPKKDEEKGKEGDSEKESEKSDGDPIVDPEKEK
  EPKEGQEEVLKEVVESEGERKTKVERDIGEGNLSTAAAAALAAAAVKAKHLAAVEERKIKSLVALLVETQMKKLE
  IKLRHFEELETIMDREREALEYQRQQLLADRQAFHMEQLKYAEMRARQQHFQQMHQQQQQPPPALPPGSQPIPPT
  GAAGPPAVHGLAVAPASVVPAPAGSGAPPGSLGPSEQIGQAGSTAGPQQQQPAGAPQPGAVPPGVPPPGPHGPSP
  FPNQQTPPSMMPGAVPGSGHPGVAGNAPLGLPFGMPPPPPPPAPSIIPFGSLADSISINLPAPPNLHGHHHHLPF
  APGTLPPPNLPVSMANPLHPNLPATTTMPSSLPLGPGLGSAAAQSPAIVAAVQGNLLPSASPLPDPGTPLPPDPT
  APSPGTVTPVPPPQ

• Structural information:
  • Protein Domains: (424..52-)
    (/note="SWIRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00247-)
    (596..64-)
    (/note="SANT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624"-)
  • Interpro: IPR036420  IPR000953  IPR009057  IPR001005  IPR017884   IPR038044  IPR032451  IPR032450  IPR007526  IPR032448  IPR036388  
  • Prosite: PS51293 PS50934
  • CDD: cd00167
  • DIP: 27611
  • STRING: ENSP00000267064
• Other Databases: GeneCards:  SMARCC2  Malacards:  SMARCC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071564	npBAF complex	IBA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0042393	histone binding	IBA	molecular function
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0071565	nBAF complex	IBA	cellular component
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0071564	npBAF complex	ISS	cellular component
GO:0071565	nBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0071564	npBAF complex	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0071565	nBAF complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	NAS	molecular function
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:0000790	nuclear chromatin	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031492	nucleosomal DNA binding	HDA	contributes to
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0032991	protein-containing complex	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Coffin-Siris syndrome	KEGG:H01403
Coffin-Siris syndrome	KEGG:H01403
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)