Entity Details

Primary name SMARCA4
Entity type gene
Source Source Link

Details

PrimaryID6597
RefseqGeneNG_011556
SymbolSMARCA4
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Chromosome19
Location19p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-15
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsSMCA4_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0001188 RNA polymerase I preinitiation complex assembly
GO:0002039 p53 binding
GO:0003407 neural retina development
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0003723 RNA binding
GO:0004386 helicase activity
GO:0005524 ATP binding
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0006325 chromatin organization
GO:0006337 nucleosome disassembly
GO:0006338 chromatin remodeling
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007399 nervous system development
GO:0008094 ATPase, acting on DNA
GO:0008134 transcription factor binding
GO:0016020 membrane
GO:0016514 SWI/SNF complex
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030308 negative regulation of cell growth
GO:0030957 Tat protein binding
GO:0032991 protein-containing complex
GO:0038111 interleukin-7-mediated signaling pathway
GO:0043044 ATP-dependent chromatin remodeling
GO:0043923 positive regulation by host of viral transcription
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0047485 protein N-terminus binding
GO:0050681 androgen receptor binding
GO:0051091 positive regulation of DNA-binding transcription factor activity
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0070182 DNA polymerase binding
GO:0070577 lysine-acetylated histone binding
GO:0070615 nucleosome-dependent ATPase activity
GO:0071564 npBAF complex
GO:0071565 nBAF complex
GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I
GO:1902661 positive regulation of glucose mediated signaling pathway
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase II
GO:1904837 beta-catenin-TCF complex assembly

Diseases

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Disease IDSourceNameDescription
614609 OMIMCoffin-Siris syndrome 4 (CSS4)A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. The disease is caused by variants affecting the gene represented in this entry.
613325 OMIMRhabdoid tumor predisposition syndrome 2 (RTPS2)A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. The disease is caused by variants affecting the gene represented in this entry.

Interactions

310 interactions

InteractorPartnerSourcesPublicationsLink
SMARCA4FANCABioGRID, MINT11726552 14499622 details
SMARCA4STK11BioGRID, IntAct11445556 14676191 28205554 details
SMARCA4MPHOSPH6IntAct15231747 details
SMARCA4ARID1ABioGRID, DIP, IntAct, UniProt11780067 11988099 12200431 12368262 14559996 15170388 15985610 16287714 18086889 20460684 22140357 22939629 23540691 23698369 24981860 26344197 29374058 30962207 31043422 31759698 8895581 9584200 9845365 details
SMARCA4NR3C1BioGRID, UniProt10688647 12917342 17387179 28611094 9128241 9590696 details
SMARCA4ARID1BBioGRID, UniProt11988099 12200431 15170388 20086098 21118156 22939629 24981860 26344197 29374058 30962207 31043422 details
SMARCA4MYCBioGRID, IntAct11839798 14559996 17353931 28205554 29467282 30415952 details
SMARCA4TP53BioGRID, IntAct11950834 17666433 18303029 21900401 details
SMARCA4UBE2OIntAct19549727 details
SMARCA4CBX5BioGRID, MINT, UniProt12411497 15882967 19498464 20011120 20562864 details
SMARCA4H2AXBioGRID, MINT16932743 20224553 28242625 details
SMARCA4SP1BioGRID, Molecular Connections11018012 12192045 15317818 20969766 details
SMARCA4PABPN1BioGRID, UniProt11371506 details
SMARCA4HSPB1BioGRID, IntAct25277244 details
SMARCA4DPF2BioGRID, IntAct, MINT20460684 22334708 23540691 24981860 26186194 26344197 28514442 28533407 30962207 31043422 details
SMARCA4TERTDIP, MINT19571879 24550003 details
SMARCA4CHMP5BioGRID, IntAct16730941 details
SMARCA4STAT3BioGRID, NTNU15286705 details
SMARCA4DPF3BioGRID, IntAct18765789 22334708 24981860 26186194 26344197 28514442 31043422 details
SMARCA4CTNNB1BioGRID, DIP11532957 19571879 29463646 details
SMARCA4CHD4BioGRID, IntAct11003653 14530259 16217013 28977666 details
SMARCA4ESR1BioGRID11003650 9099865 details
SMARCA4BRCA1BioGRID10943845 15034933 23438604 26831064 details
SMARCA4SIN3ABioGRID11238380 11784859 14559996 16800816 19081374 details
SMARCA4KLF1BioGRID11018012 details
SMARCA4GATA1BioGRID11018012 details
SMARCA4RB1BioGRID10778858 12434308 15485920 17666433 19081374 23438604 7923370 9128241 details
SMARCA4AHRBioGRID11805098 details
SMARCA4STAT2BioGRID12244326 details
SMARCA4MED17BioGRID12154023 22668559 details
SMARCA4ARBioGRID14966121 18487222 19762545 28611094 details
SMARCA4MYOCDBioGRID19342595 details
SMARCA4CDKN2ABioGRID19149898 details
SMARCA4SS18L1BioGRID19081374 24981860 details
SMARCA4NR4A2BioGRID17043312 details
SMARCA4HSF4BioGRID16552721 details
SMARCA4CEBPABioGRID16452305 details
SMARCA4CDX2BioGRID19371634 details
SMARCA4PRMT5BioGRID14559996 20951943 details
SMARCA4SIN3BBioGRID14559996 details
SMARCA4CIITABioGRID12077331 details
SMARCA4GMNNBioGRID16024661 details
SMARCA4NONOBioGRID18042045 20460684 31815296 details
SMARCA4CARM1BioGRID14729568 details
SMARCA4MRTFABioGRID17599918 details
SMARCA4H3C1BioGRID15616580 20011120 34079125 details
SMARCA4MBD3BioGRID22196727 details
SMARCA4CDK19BioGRID22668559 details
SMARCA4CDK8BioGRID22668559 details
SMARCA4MED6BioGRID22668559 details
SMARCA4CHFRBioGRID22285184 details
SMARCA4H4C6BioGRID17274598 details
SMARCA4H3C14BioGRID17274598 details
SMARCA4H2BC21BioGRID17274598 details
SMARCA4IKZF1BioGRID10204490 details
SMARCA4RBL1BioGRID12434308 details
SMARCA4RBL2BioGRID12434308 details
SMARCA4PALS2BioGRID15231747 details
SMARCA4MDM2BioGRID24583282 details
SMARCA4E2F6BioGRID23082233 details
SMARCA4FUSBioGRID29884807 30962207 details
SMARCA4EWSR1BioGRID30962207 details
SMARCA4TAF15BioGRID30962207 details
SMARCA4RASSF1BioGRID28205554 details
SMARCA4SOX4BioGRID28205554 details
SMARCA4PTENBioGRID31685992 details
SMARCA4SUMO2BioGRID32786267 details
SMARCA4SMARCB1BioGRID, DIP, IntAct, MINT, UniProt10078207 11238380 11486022 11726552 12368262 14559996 15150092 15985610 16287714 16687403 18042045 18414052 18809673 19164553 20460684 20506188 21520050 22140357 22573825 22939629 23540691 23602572 24981860 26344197 29374058 30108113 30962207 31043422 31759698 8895581 9128241 9584200 9744861 9845365 details
SMARCA4SMARCE1BioGRID, DIP, IntAct, MINT11003653 12192000 12368262 14559996 16287714 16940996 18809673 19164553 20305087 20460684 22939629 24981860 26186194 26344197 28514442 29374058 30962207 31043422 8895581 9845365 details
SMARCA4SMARCD2BioGRID, IntAct12368262 14559996 22939629 24981860 26344197 29374058 30962207 31043422 details
SMARCA4SMARCC1BioGRID, IntAct, MINT, UniProt10078207 11238380 11726552 12368262 12917342 14559996 15985610 16217013 16230384 16287714 16452305 18086889 18303029 18809673 20460684 21520050 22939629 23540691 24434208 24981860 26344197 28420882 29374058 30962207 31043422 31759698 8895581 9584200 9845365 details
SMARCA4SMARCC2BioGRID, IntAct, UniProt10078207 11726552 12368262 14559996 15985610 18086889 18809673 20305087 20460684 22573825 22939629 23540691 24981860 26344197 28514442 29374058 30962207 31043422 8895581 9584200 9845365 details
SMARCA4PBRM1BioGRID, DIP, IntAct, UniProt11780067 12368262 15985610 22140357 24981860 28940253 29374058 30355451 30962207 31043422 details
SMARCA4ARID2BioGRID, DIP, UniProt15985610 22140357 24981860 29374058 30962207 31043422 details
SMARCA4ACTBBioGRID, UniProt15985610 21300803 22573825 9845365 details
SMARCA4ACTL6ABioGRID, UniProt11780067 14559996 15985610 20460684 21699904 22939629 24981860 26344197 29374058 30962207 31043422 8895581 9845365 details
SMARCA4SMARCD1BioGRID, IntAct, UniProt12917342 14559996 15985610 18042045 18303029 20305087 20460684 22939629 24981860 26186194 26344197 28514442 29374058 30962207 31043422 details
SMARCA4PPARGBioGRID, IntAct14701856 details
SMARCA4RESTBioGRID, IntAct12192000 17023429 details
SMARCA4RCOR1BioGRID, IntAct12192000 details
SMARCA4HDAC1BioGRID, IntAct12192000 19081374 20596014 details
SMARCA4HDAC2BioGRID, IntAct11238380 12192000 14559996 16800816 19081374 20460684 20596014 details
SMARCA4IKBKEIntAct17353931 details
SMARCA4SMARCA4BioGRID, IntAct12917342 23602572 31043422 details
SMARCA4TAF9IntAct20195357 details
SMARCA4H3-4MINT20224553 details
SMARCA4YWHAZMINT20129940 details
SMARCA4DDX5BioGRID, UniProt17011493 30459231 details
SMARCA4SNIP1UniProt15378006 details
SMARCA4SS18BioGRID, IntAct23540691 24981860 26186194 26344197 28514442 29374058 30962207 details
SMARCA4IRF1BioGRID, IntAct16195385 17182572 details
SMARCA4BCL7ABioGRID, IntAct20460684 24981860 26344197 28514442 29374058 31043422 details
SMARCA4BCL7CBioGRID, IntAct, MINT18809673 24981860 26344197 28514442 31043422 details
SMARCA4CHD7BioGRID, DIP20130577 21532573 details
SMARCA4TOP2ADIP23698369 details
SMARCA4NR2E1IntAct28420882 details
SMARCA4KDM1AIntAct28420882 details
SMARCA4SMARCD3BioGRID, IntAct14701856 18765789 22068056 22939629 24981860 26344197 29374058 30962207 31043422 details
SMARCA4FMR1IntAct31413325 details
SMARCA4POLR2ABioGRID11238380 15999204 16195385 8895581 9128241 9845365 details
SMARCA4RBBP4BioGRID11238380 details
SMARCA4CCNE1BioGRID11085541 9891079 details
SMARCA4HSF1BioGRID11486022 20353823 21079652 details
SMARCA4PHBBioGRID12065415 15141164 details
SMARCA4HSP90B1BioGRID11726552 details
SMARCA4NCOR2BioGRID10944117 details
SMARCA4ING1BioGRID11784859 details
SMARCA4ZMYND8BioGRID16565076 details
SMARCA4PMS2BioGRID17148452 details
SMARCA4MYOD1BioGRID15870273 20195544 22068056 details
SMARCA4SMARCA2BioGRID14559996 18042045 22939629 24981860 31753913 9128241 details
SMARCA4JUNBBioGRID14673171 9128241 details
SMARCA4LMNB1BioGRID9128241 details
SMARCA4SRFBioGRID17599918 19342595 details
SMARCA4HDAC3BioGRID16469706 19081374 details
SMARCA4CDYLBioGRID19061646 details
SMARCA4ADD1BioGRID17074803 details
SMARCA4MCPH1BioGRID19525936 details
SMARCA4NFE2L2BioGRID16923960 details
SMARCA4BRD7BioGRID18809673 24981860 30940648 31043422 details
SMARCA4PAX6BioGRID16675956 details
SMARCA4CREB1BioGRID16675956 23671189 details
SMARCA4MYOGBioGRID16424906 details
SMARCA4MYEF2BioGRID15870273 16424906 details
SMARCA4ATF3BioGRID14673171 21300803 details
SMARCA4BRWD1BioGRID12889071 details
SMARCA4HNRNPCBioGRID16217013 details
SMARCA4STAT1BioGRID16195385 20353823 21079652 details
SMARCA4USF1BioGRID16195385 details
SMARCA4ZMIZ2BioGRID16051670 details
SMARCA4NEUROG2BioGRID16024661 details
SMARCA4NEUROD1BioGRID16024661 details
SMARCA4NF1BioGRID15999204 details
SMARCA4PBX1BioGRID15870273 details
SMARCA4NR1H2BioGRID15774904 details
SMARCA4RXRABioGRID15774904 details
SMARCA4HIF1ABioGRID15347669 details
SMARCA4SMAD2BioGRID16751102 18003620 details
SMARCA4SMAD3BioGRID18003620 details
SMARCA4ADNPBioGRID17878164 details
SMARCA4STAT5ABioGRID17387179 details
SMARCA4CEBPBBioGRID17387179 22242598 details
SMARCA4PMLBioGRID21360626 details
SMARCA4NPM1BioGRID20460684 details
SMARCA4KPNA2BioGRID20460684 details
SMARCA4ZEB1BioGRID20418909 details
SMARCA4HDAC9BioGRID20596014 details
SMARCA4TOPBP1BioGRID20571081 details
SMARCA4TRIM28BioGRID20508149 29955894 details
SMARCA4RUNX1BioGRID20506188 28533407 details
SMARCA4BCL6BioGRID16147992 details
SMARCA4SMARCAD1BioGRID21549307 details
SMARCA4KLF4BioGRID20305087 details
SMARCA4ANGPTL4BioGRID22573825 details
SMARCA4ACTC1BioGRID22573825 30890647 details
SMARCA4SETD7BioGRID22403242 details
SMARCA4KDM6ABioGRID22192413 details
SMARCA4TBX5BioGRID22192413 details
SMARCA4RPS6KA5BioGRID20129940 details
SMARCA4BCL7BBioGRID24981860 26344197 29374058 31043422 details
SMARCA4SPTA1BioGRID16889989 details
SMARCA4HIRABioGRID23602572 details
SMARCA4UBN1BioGRID23602572 details
SMARCA4ASF1ABioGRID23602572 details
SMARCA4CABIN1BioGRID23602572 details
SMARCA4EZH2BioGRID27634302 28068325 details
SMARCA4E2F4BioGRID23082233 details
SMARCA4PTGDRBioGRID23082233 details
SMARCA4DDIT3BioGRID30962207 details
SMARCA4FLI1BioGRID30962207 details
SMARCA4CUL1BioGRID30177679 details
SMARCA4FBXW7BioGRID30177679 details
SMARCA4CSNK1A1BioGRID30177679 details
SMARCA4CSNK2A1BioGRID30177679 details
SMARCA4CSNK1DBioGRID30177679 details
SMARCA4CSNK1EBioGRID30177679 details
SMARCA4KDM5CBioGRID30355451 details
SMARCA4CTCFBioGRID30459231 details
SMARCA4BICRABioGRID24981860 29374058 details
SMARCA4ACTA1BioGRID29374058 details
SMARCA4BCL11BBioGRID29374058 details
SMARCA4BRD9BioGRID24981860 29374058 31043422 31753913 details
SMARCA4BICRALBioGRID29374058 details
SMARCA4BIRC3BioGRID30948266 details
SMARCA4SCML2BioGRID31043422 details
SMARCA4CD47BioGRID29463646 details
SMARCA4MARK4BioGRID, IntAct14676191 details
SMARCA4RELBBioGRID, IntAct14743216 details
SMARCA4SRGAP3IntAct12368262 details
SMARCA4NCOR1BioGRID, IntAct11013263 details
SMARCA4TRIM33IntAct20603019 details
SMARCA4WDR77BioGRID, IntAct20951943 details
SMARCA4GABARAPL2IntAct20562859 details
SMARCA4CBX1IntAct21888893 details
SMARCA4CBX3BioGRID, IntAct21888893 34079125 details
SMARCA4VCAM1IntAct22623428 details
SMARCA4CAND1BioGRID, IntAct21145461 details
SMARCA4COPS5BioGRID, IntAct21145461 details
SMARCA4CUL3BioGRID, IntAct21145461 details
SMARCA4TET2MINT23353889 details
SMARCA4FOXO1BioGRID, MINT25609649 details
SMARCA4GLI1BioGRID, MINT25609649 details
SMARCA4NFATC1BioGRID, MINT25609649 27637333 details
SMARCA4JUNMINT25609649 details
SMARCA4ATL2BioGRID, IntAct26496610 details
SMARCA4REEP5BioGRID, IntAct26496610 details
SMARCA4VAPABioGRID, IntAct26496610 details
SMARCA4NEIL3BioGRID, IntAct26496610 details
SMARCA4CATBioGRID, IntAct26496610 29568061 details
SMARCA4NOTCH1BioGRID, MINT23022380 details
SMARCA4RBPJBioGRID, MINT23022380 details
SMARCA4MAML1BioGRID, MINT23022380 details
SMARCA4NUDCD1MINT29021621 details
SMARCA4RCOR2IntAct28420882 details
SMARCA4PHF10BioGRID, IntAct, MINT22334708 22939629 24981860 30962207 31043422 details
SMARCA4DPF1BioGRID, IntAct22334708 24981860 31043422 details
SMARCA4HIF1ANIntAct29426014 details
SMARCA4CHD3BioGRID, IntAct28977666 details
SMARCA4RRBP1BioGRID, IntAct30021884 details
SMARCA4HNRNPA2B1BioGRID, IntAct30021884 details
SMARCA4HNRNPA1L2BioGRID, IntAct30021884 details
SMARCA4DEPDC1BBioGRID, IntAct32203420 details
SMARCA4CSAG1MINT32761762 details
SMARCA4TAF10BioGRID17643375 details
SMARCA4BRD4BioGRID21555454 31239290 32416067 details
SMARCA4NSD3BioGRID21555454 details
SMARCA4SIRT7BioGRID22586326 details
SMARCA4NR2C1BioGRID21670149 details
SMARCA4BAZ1BBioGRID22939629 details
SMARCA4TOP2BBioGRID22939629 details
SMARCA4CPSF2BioGRID22939629 details
SMARCA4SMARCA1BioGRID22939629 details
SMARCA4CADBioGRID22939629 details
SMARCA4EPAS1BioGRID23275444 details
SMARCA4FBXO6BioGRID22268729 details
SMARCA4WWOXBioGRID24550385 details
SMARCA4OBSL1BioGRID24711643 details
SMARCA4EEDBioGRID24457600 details
SMARCA4RNF2BioGRID24457600 details
SMARCA4BMI1BioGRID24457600 details
SMARCA4NTRK1BioGRID25921289 details
SMARCA4BYSLBioGRID26344197 details
SMARCA4EP400BioGRID26344197 details
SMARCA4HMGB1BioGRID26344197 details
SMARCA4MDC1BioGRID26344197 details
SMARCA4MYO18ABioGRID26344197 details
SMARCA4PELOBioGRID26344197 details
SMARCA4GTF3C3BioGRID26344197 details
SMARCA4NOP56BioGRID26344197 details
SMARCA4POLR3ABioGRID26344197 details
SMARCA4POLR3CBioGRID26344197 details
SMARCA4POLR3FBioGRID26344197 details
SMARCA4SMC3BioGRID26344197 details
SMARCA4UPF1BioGRID26344197 details
SMARCA4H3C6BioGRID26527279 details
SMARCA4KPNA1BioGRID26496610 details
SMARCA4RAB5CBioGRID26496610 details
SMARCA4PARD6ABioGRID26496610 details
SMARCA4TENT4BBioGRID26496610 details
SMARCA4FOXE1BioGRID25609649 details
SMARCA4CDC5LBioGRID20467437 details
SMARCA4NFATC2BioGRID27637333 details
SMARCA4NCLBioGRID27049334 details
SMARCA4YAP1BioGRID25796446 details
SMARCA4CUL4BBioGRID28225217 details
SMARCA4PYHIN1BioGRID28077445 details
SMARCA4EFTUD2BioGRID28515276 details
SMARCA4PHIPBioGRID29089422 details
SMARCA4ESR2BioGRID29509190 details
SMARCA4SUZ12BioGRID27634302 details
SMARCA4SOX2BioGRID28794006 details
SMARCA4PIK3R1BioGRID26839216 details
SMARCA4PSME3BioGRID29934401 details
SMARCA4ZBTB7ABioGRID26446488 details
SMARCA4H2AZ1BioGRID28242625 details
SMARCA4MACROH2A1BioGRID28242625 details
SMARCA4NR2C2BioGRID30463901 details
SMARCA4XRCC6BioGRID30585729 details
SMARCA4H4C1BioGRID30804502 details
SMARCA4APEX1BioGRID28986522 34079125 details
SMARCA4STAU1BioGRID30948266 details
SMARCA4WWP2BioGRID31048545 details
SMARCA4ERCC6BioGRID26030138 details
SMARCA4ARIH2BioGRID31253590 details
SMARCA4PLEKHA4BioGRID31091453 details
SMARCA4RAD18BioGRID31076518 details
SMARCA4CITBioGRID31586073 details
SMARCA4KIF14BioGRID31586073 details
SMARCA4KIF20ABioGRID31586073 details
SMARCA4BRD2BioGRID31753913 details
SMARCA4NPC1BioGRID33144569 details
SMARCA4CICBioGRID29844126 details
SMARCA4CUL4ABioGRID32235678 details
SMARCA4STK11IPBioGRID24981860 details
SMARCA4NR4A1BioGRID33087562 details
SMARCA4ACTR3BioGRID34079125 details
SMARCA4POLR1GBioGRID34079125 details
SMARCA4H2BC8BioGRID34079125 details
SMARCA4TERF2IPBioGRID34079125 details
SMARCA4ZNF330BioGRID34079125 details
SMARCA4BNIP3LIntAct18267069 details
SMARCA4MMP2Molecular Connections20969766 details
SMARCA4TFF1IntAct24434208 details
SMARCA4CDH1IntAct24434208 details
SMARCA4DDX18IntAct24434208 details
SMARCA4IFIT1IntAct17182572 details
SMARCA4IFI16IntAct17182572 details
SMARCA4CDKN1ANTNU15286705 details
SMARCA4TRIM25BioGRID29117863 details
SMARCA4VIRMABioGRID29507755 details