• Gene id: 6595

Gene Summary

• Gene Symbol: SMARCA2   Gene   UCSC   Ensembl
• Aliases: BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a
• Gene name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
• Alternate names: probable global transcription activator SNF2L2, ATP-dependent helicase SMARCA2, BAF190B, BRG1-associated factor 190B, SNF2-alpha, SNF2/SWI2-like protein 2, SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a2, brahma homolog, global transcr,
• Gene location: 9p24.3 (47477125: 47413680)     Exons: 25     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes
• OMIM: 600014

Protein Summary

• Protein general information: P51531  
  • Name: Probable global transcription activator SNF2L2 (EC 3.6.4. ) (ATP dependent helicase SMARCA2) (BRG1 associated factor 190B) (BAF190B) (Protein brahma homolog) (hBRM) (SNF2 alpha) (SWI/SNF related matrix associated actin dependent regulator of chromatin sub
  • Length: 1590  
  • Mass: 181279
• Sequence:

  MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTMGSTDFPQEGMHQMHK
  PIDGIHDKGIVEDIHCGSMKGTGMRPPHPGMGPPQSPMDQHSQGYMSPHPSPLGAPEHVSSPMSGGGPTPPQMPP
  SQPGALIPGDPQAMSQPNRGPSPFSPVQLHQLRAQILAYKMLARGQPLPETLQLAVQGKRTLPGLQQQQQQQQQQ
  QQQQQQQQQQQQQPQQQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAA
  AVPGPSVPQPAPGQPSPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQELENLPGSLPPDLRTK
  ATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKRQTLREARMTEKLEKQQKIEQERKRRQKHQE
  YLNSILQHAKDFKEYHRSVAGKIQKLSKAVATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRR
  LAYLLQQTDEYVANLTNLVWEHKQAQAAKEKKKRRRRKKKAEENAEGGESALGPDGEPIDESSQMSDLPVKVTHT
  ETGKVLFGPEAPKASQLDAWLEMNPGYEVAPRSDSEESDSDYEEEDEEEESSRQETEEKILLDPNSEEVSEKDAK
  QIIETAKQDVDDEYSMQYSARGSQSYYTVAHAISERVEKQSALLINGTLKHYQLQGLEWMVSLYNNNLNGILADE
  MGLGKTIQTIALITYLMEHKRLNGPYLIIVPLSTLSNWTYEFDKWAPSVVKISYKGTPAMRRSLVPQLRSGKFNV
  LLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTHYVAPRRILLTGTPLQNKLPELWALLNFLLP
  TIFKSCSTFEQWFNAPFAMTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPEKVEYVIKCDMSALQK
  ILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNTIMQLRKICNHPYMFQHIEESFAEHLGYSNGVINGAELYRASG
  KFELLDRILPKLRATNHRVLLFCQMTSLMTIMEDYFAFRNFLYLRLDGTTKSEDRAALLKKFNEPGSQYFIFLLS
  TRAGGLGLNLQAADTVVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQKVIQ
  AGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDRRREDARNPKRKPRLM
  EEDELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDALTEKQWLRAIEDGNLEEMEEEVRLKKRKRRR
  NVDKDPAKEDVEKAKKRRGRPPAEKLSPNPPKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSE
  VFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFK
  SARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNRGKAKPVVSDFDSDEE
  QDEREQSEGSGTDDE

• Structural information:
  • Protein Domains: (173..20-)
    (/note="QLQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01001-)
    (436..50-)
    (/note="HSA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00549-)
    (736..90-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR006576  IPR037259  IPR001487  IPR036427  IPR018359   IPR014978  IPR014001  IPR001650  IPR014012  IPR027417  IPR030088  IPR029295  IPR038718  IPR000330  
  • Prosite: PS00633 PS50014 PS51192 PS51194 PS51204 PS51666
  • PDB: 2DAT 4QY4 5DKC 5DKH 6EG2 6EG3 6HAX 6HAY 6HAZ
  • PDBsum: 2DAT 4QY4 5DKC 5DKH 6EG2 6EG3 6HAX 6HAY 6HAZ
  • DIP: 29005
  • STRING: ENSP00000265773
• Other Databases: GeneCards:  SMARCA2  Malacards:  SMARCA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0008094	DNA-dependent ATPase activity	IBA	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0071564	npBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071565	nBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0016817	hydrolase activity, acting on acid anhydrides	IEA	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0004386	helicase activity	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	TAS	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: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:0003682	chromatin binding	IEA	molecular function
GO:0007286	spermatid development	IEA	biological process
GO:0008094	DNA-dependent ATPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0006338	chromatin remodeling	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0006338	chromatin remodeling	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Nicolaides-Baraitser syndrome	KEGG:H01402
Nicolaides-Baraitser syndrome	KEGG:H01402
Prostate cancer	PMID:17075831
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq