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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
SMARCA4 6597 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4  19hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
25058500   2015Cell line : -

Source : Hospital Clnico San Carlos in Madrid, Hospital Clinic in Barcelona, and Hospital Donostia in San Sebastin

Sample Type : CRC tumor

No. of Sample : 43

Stage : -

Sanger sequencing Mutation--


Gene Details



NC_000019.9 (11071598..11172958)

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Gene Type protein coding
Gene Family -
Description The protein encoded by this gene is a member of the SWI/SNF family of proteins and is 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 by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]  
Chromosome 19
Location 19p13.3
Start 11071598  
End 11172958  
Strand +  
Gene Sequence

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Length 101361  
OMIM ID 603254   
HGNC ID HGNC:11100   
Unigene ID Hs.327527   
Ensembl ID ENSG00000127616   
PharmGKB ID PA35950   

mRNA Information


mRNA ID ?NM_001128844.1
Exon join(1..253,19856..19931,23200..23452,24352..24484, 25268..25672,25984..26082,26745..27003,28396..28522, 30229..30402,33907..34080,35292..35459,35573..35623, 42108..42238,42419..42476,46981..47102,49460..49610, 52028..52191,58036..58102,58670..58780,60804..61046, 62597..62710,63410..63517,64501..64587,65379..65425, 66863..67029,69809..69972,72369..72596,72846..72944, 73202..73279,73993..74211,80386..80639,97334..97442, 97867..97968,98832..98964,99124..99266,100863..101361)  
mRNA Sequence

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Length 5779  



CDS Information


   
Location361..5304
CDS Sequence

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CCDS ID CCDS12253.1



Protein Information


      
Protein IDNP_001122316.1
Protein NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Molecular Wt. (Da)44010
Protein Sequence

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Length 1647  
Uniprot IDO95237
Ensembl Protein ID ENSP00000337224  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation1382
SPhosphorylation695
SPhosphorylation610;-
SPhosphorylation721;-
SPhosphorylation1452;-
TPhosphorylation609;-
SPhosphorylation613;-
TPhosphorylation11;-
SPhosphorylation657;-
SPhosphorylation660;-
SPhosphorylation662;-
SPhosphorylation655;-
SPhosphorylation1570
SPhosphorylation1575
SPhosphorylation1586
SPhosphorylation1627
SPhosphorylation1631
SPhosphorylation1640
SPhosphorylation1642
SPhosphorylation1644
KAcetylation188
KAcetylation455
KAcetylation1033
SPhosphorylation699
TPhosphorylation1384
TPhosphorylation1423

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                                                                                                                                                                         
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
60ACTB32NP_001092.1in vitro;in vivo9845365   
196AHR2596NP_001612.1in vitro11805098   
672BRCA1218NP_009231.2in vitro1   094   384   515   034   930   
898CCNE1455NP_001229.1in vivo9891079   
1051CEBPB1801NP_005185.2in vitro;in vivo10619021   
1499CTNNB1286NP_001895.1in vivo11532957   
2099ESR1589NP_000116.2in vivo;yeast 2-hybrid9099865   
2908NR3C1679NP_001019265.1in vitro9590696   
3297HSF1778NP_005517.1in vitro1   148   602   292   226   090   000   000   
5080PAX66167NP_001595.2in vivo16675956   
5245PHB1454NP_002625.1in vivo12065415   
5925RB11574NP_000312.2in vivo;yeast 2-hybrid7923370   
5971RELB6886NP_006500.2in vitro14743216   
6598SMARCB13364NP_003064.2in vitro8895581   
6599SMARCC13435NP_003065.3in vivo9891079   
6605SMARCE14382NP_003070.3in vitro12192000   
6760SS182559AAK21314.1in vitro14603256   
6773STAT22778NP_005410.1in vitro;in vivo;yeast 2-hybrid12244326   
6794STK113740NP_000446.1in vitro;in vivo11445556   
7110TMF13081NP_009045.2in vitro;yeast 2-hybrid12044884   
7157TP531859NP_000537.3in vitro;in vivo11950834   
8289ARID1A4319NP_006006.3yeast 2-hybrid11988099   
10320IKZF14318NP_006051.1in vivo10204490   


Pathway Information


No matching records could be found.

Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd055161458-1564  Bromo_SNF2L2
cl025561458-1564  Bromodomain superfamily
cd000791079-1202  HELICc
cl214551079-1202  P-loop_NTPase superfamily
cd00046774-913  DEXDc
cl21455774-913  P-loop_NTPase superfamily
smart002971456-1564  BROMO
cd055151458-1562  Bromo_polybromo_V
cd043691458-1557  Bromodomain
cd055191458-1560  Bromo_SNF2
cd055181460-1556  Bromo_polybromo_IV
pfam146191322-1389  SnAC
cl205921322-1389  SnAC superfamily
pfam004391474-1551  Bromodomain
smart00573460-532  HSA
cl02676460-532  HSA superfamily
cd055171465-1558  Bromo_polybromo_II
pfam002711114-1194  Helicase_C
smart004901111-1194  HELICc
cd055241465-1564  Bromo_polybromo_I
cd055201477-1556  Bromo_polybromo_III
pfam07529460-532  HSA
cd055211458-1555  Bromo_Rsc1_2_I
smart00592612-656  BRK
cl02688612-656  BRK superfamily
cd055221461-1560  Bromo_Rsc1_2_II
pfam07533610-654  BRK
cd055091461-1566  Bromo_gcn5_like
cd055041465-1557  Bromo_Acf1_like
pfam08880171-206  QLQ
cl07469171-206  QLQ superfamily
cd055251458-1562  Bromo_ASH1
cd054991489-1557  Bromo_BDF1_2_II
cd055281493-1540  Bromo_AAA
smart00951171-204  QLQ
cd055291456-1559  Bromo_WDR9_I_like
cd054981489-1558  Bromo_Brdt_II_like
cd055031492-1559  Bromo_BAZ2A_B_like
cd055131495-1547  Bromo_brd7_like
cd055121458-1554  Bromo_brd1_like
cd055021479-1564  Bromo_tif1_like
cd054961460-1564  Bromo_WDR9_II
cd055111492-1565  Bromo_TFIID
cd055001489-1557  Bromo_BDF1_2_I
cd054971493-1565  Bromo_Brdt_I_like
cd055061489-1557  Bromo_plant1
cd055051460-1546  Bromo_WSTF_like
pfam00270782-913  DEAD
cd055071482-1540  Bromo_brd8_like
cd055101482-1540  Bromo_SPT7_like
cd055261476-1566  Bromo_polybromo_VI
cd054951489-1559  Bromo_cbp_like
pfam0843068-164  Fork_head_N
cl2254068-164  Fork_head_N superfamily
pfam1293844-216  M_domain
cl1517944-216  M_domain superfamily
cd054921494-1548  Bromo_ZMYND11
pfam00176757-1052  SNF2_N
PLN03142750-1232  PLN03142
COG0553754-1239  HepA
smart00487754-942  DEXDc
COG50761433-1566  COG5076
pfam0977045-224  PAT1
pfam11496993-1231  HDA2-3
pfam0960639-363  Med15
COG1061718-913  SSL2
pfam0315439-225  Atrophin-1
pfam0960644-222  Med15
COG1196370-552  Smc
TIGR02169356-549  SMC_prok_A
PRK09401782-881  PRK09401
pfam0960659-181  Med15
COG0419367-570  SbcC
PTZ00121437-548  PTZ00121
COG1196367-571  Smc
PRK0776445-227  PRK07764
pfam1524080-223  Pro-rich
COG1110782-881  TopG2
pfam13868365-560  Trichoplein
pfam0960641-356  Med15
pfam0450343-182  SSDP
TIGR02168364-570  SMC_prok_B
pfam0960616-224  Med15
TIGR02169357-547  SMC_prok_A
pfam0977039-189  PAT1
pfam0315747-216  Glutenin_hmw
TIGR02168364-544  SMC_prok_B
COG4372414-570  COG4372
TIGR01054782-882  rgy
COG3883433-570  CwlO1
pfam0448740-162  CITED
COG1196364-549  Smc
pfam09770113-385  PAT1


Ontology Information


   
HPRD ID9346
Molecular ClassTranscription factor
Molecular FunctionCell adhesion molecule activity (GO:0005194)
Biological ProcessImmune response (GO:0006955)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO