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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 6597 |
Name | SMARCA4 |
Synonym | BAF190|BRG1|RTPS2|SNF2|SNF2-BETA|SNF2L4|SNF2LB|SWI2|hSNF2b;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4;SMARCA4;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
Definition | ATP-dependent helicase SMARCA4|BAF190A|BRG1-associated factor 190A|BRM/SWI2-related gene 1|SNF2-like 4|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4|brahma protein-like 1|global transcription activator homol |
Position | 19p13.2 |
Gene Type | protein-coding |
Source | Count: 1; Generif |
Literature support | Count: 3 PubMed records as below. |
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Evidence Status |
Description |
reviewed | MicroRNA-21 targets tumor suppressor genes ANP32A and SMARCA4. |
reviewed | This manuscript provides consistent demonstration that inactivating mutations at the SMARCA4 gene are commonly found in lung cancer cell lines. These observations provide evidence that SMARCA4 constitutes a tumor suppressor gene important in lung cancer. |
reviewed | "alterations at BRG1 always occurred in the absence of MYC amplification, suggesting a common role in lung cancer development. In conclusion, our data strongly support that BRG1 is a bona fide tumor suppressor and a major factor in lung tumorigenesis". |
reviewed | This report provides supportive evidence that BRG1 and BRM act as tumor suppressor proteins and implicates a role for their loss in the development of non-small cell lung cancers. |
| More detail of all 3 literatures about SMARCA4 | |
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Pathways and Diseases |
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Pathway | Regulation of retinoblastoma protein;PID Curated;200191 |
Pathway | Regulation of Wnt-mediated beta catenin signaling and target gene transcription;PID Curated;200106 |
Pathway | Glucocorticoid receptor regulatory network;PID Curated;200077 |
Pathway | Wnt signaling pathway;PANTHER;P00057 |
Pathway | Direct p53 effectors;PID Curated;200101 |
Pathway | chromatin remodeling by hswi/snf atp-dependent complexes;PID BioCarta;100141 |
Pathway | the information processing pathway at the ifn beta enhancer;PID BioCarta;100079 |
Disease | Renal tubular acidosis;FunDO |
Disease | Hereditary disease;FunDO |
Disease | Adrenal gland hyperfunction;FunDO |
Disease | Cancer;FunDO |
Disease | Rhabdoid tumor predisposition syndrome 2;OMIM |
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External Links |
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Links to Entrez Gene | 6597 |
Links to all GeneRIF Items | 6597 |
Links to iHOP | 6597 |
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Sequence Information |
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Nucleotide Sequence |
>6597 : length: 4944 atgtccactccagacccacccctgggcggaactcctcggccaggtccttccccgggccct ggcccttcccctggagccatgctgggccctagcccgggtccctcgccgggctccgcccac agcatgatggggcccagcccagggccgccctcagcaggacaccccatccccacccagggg cctggagggtaccctcaggacaacatgcaccagatgcacaagcccatggagtccatgcat gagaagggcatgtcggacgacccgcgctacaaccagatgaaaggaatggggatgcggtca gggggccatgctgggatggggcccccgcccagccccatggaccagcactcccaaggttac ccctcgcccctgggtggctctgagcatgcctctagtccagttccagccagtggcccgtct tcggggccccagatgtcttccgggccaggaggtgccccgctggatggtgctgacccccag gccttggggcagcagaaccggggcccaaccccatttaaccagaaccagctgcaccagctc agagctcagatcatggcctacaagatgctggccagggggcagcccctccccgaccacctg cagatggcggtgcagggcaagcggccgatgcccgggatgcagcagcagatgccaacgcta cctccaccctcggtgtccgcaacaggacccggccctggccctggccctggccccggcccg ggtcccggcccggcacctccaaattacagcaggcctcatggtatgggagggcccaacatg cctcccccaggaccctcgggcgtgccccccgggatgccaggccagcctcctggagggcct cccaagccctggcctgaaggacccatggcgaatgctgctgcccccacgagcacccctcag aagctgattcccccgcagccaacgggccgcccttcccccgcgccccctgccgtcccaccc gccgcctcgcccgtgatgccaccgcagacccagtcccccgggcagccggcccagcccgcg cccatggtgccactgcaccagaagcagagccgcatcacccccatccagaagccgcggggc ctcgaccctgtggagatcctgcaggagcgcgagtacaggctgcaggctcgcatcgcacac cgaattcaggaacttgaaaaccttcccgggtccctggccggggatttgcgaaccaaagcg accattgagctcaaggccctcaggctgctgaacttccagaggcagctgcgccaggaggtg gtggtgtgcatgcggagggacacagcgctggagacagccctcaatgctaaggcctacaag cgcagcaagcgccagtccctgcgcgaggcccgcatcactgagaagctggagaagcagcag aagatcgagcaggagcgcaagcgccggcagaagcaccaggaatacctcaatagcattctc cagcatgccaaggatttcaaggaatatcacagatccgtcacaggcaaaatccagaagctg accaaggcagtggccacgtaccatgccaacacggagcgggagcagaagaaagagaacgag cggatcgagaaggagcgcatgcggaggctcatggctgaagatgaggaggggtaccgcaag ctcatcgaccagaagaaggacaagcgcctggcctacctcttgcagcagacagacgagtac gtggctaacctcacggagctggtgcggcagcacaaggctgcccaggtcgccaaggagaaa aagaagaaaaagaaaaagaagaaggcagaaaatgcagaaggacagacgcctgccattggg ccggatggcgagcctctggacgagaccagccagatgagcgacctcccggtgaaggtgatc cacgtggagagtgggaagatcctcacaggcacagatgcccccaaagccgggcagctggag gcctggctcgagatgaacccggggtatgaagtagctccgaggtctgatagtgaagaaagt ggctcagaagaagaggaagaggaggaggaggaagagcagccgcaggcagcacagcctccc accctgcccgtggaggagaagaagaagattccagatccagacagcgatgacgtctctgag gtggacgcgcggcacatcattgagaatgccaagcaagatgtcgatgatgaatatggcgtg tcccaggcccttgcacgtggcctgcagtcctactatgccgtggcccatgctgtcactgag agagtggacaagcagtcagcgcttatggtcaatggtgtcctcaaacagtaccagatcaaa ggtttggagtggctggtgtccctgtacaacaacaacctgaacggcatcctggccgacgag atgggcctggggaagaccatccagaccatcgcgctcatcacgtacctcatggagcacaaa cgcatcaatgggcccttcctcatcatcgtgcctctctcaacgctgtccaactgggcgtac gagtttgacaagtgggccccctccgtggtgaaggtgtcttacaagggatccccagcagca agacgggcctttgtcccccagctccggagtgggaagttcaacgtcttgctgacgacgtac gagtacatcatcaaagacaagcacatcctcgccaagatccgttggaagtacatgattgtg gacgaaggtcaccgcatgaagaaccaccactgcaagctgacgcaggtgctcaacacgcac tatgtggcaccccgccgcctgctgctgacgggcacaccgctgcagaacaagcttcccgag ctctgggcgctgctcaacttcctgctgcccaccatcttcaagagctgcagcaccttcgag cagtggtttaacgcaccctttgccatgaccggggaaaaggtggacctgaatgaggaggaa accattctcatcatccggcgtctccacaaagtgctgcggcccttcttgctccgacgactc aagaaggaagtcgaggcccagttgcccgaaaaggtggagtacgtcatcaagtgcgacatg tctgcgctgcagcgagtgctctaccgccacatgcaggccaagggcgtgctgctgactgat ggctccgagaaggacaagaagggcaaaggcggcaccaagaccctgatgaacaccatcatg cagctgcggaagatctgcaaccacccctacatgttccagcacatcgaggagtccttttcc gagcacttggggttcactggcggcattgtccaagggctggacctgtaccgagcctcgggt aaatttgagcttcttgatagaattcttcccaaactccgagcaaccaaccacaaagtgctg ctgttctgccaaatgacctccctcatgaccatcatggaagattactttgcgtatcgcggc tttaaatacctcaggcttgatggaaccacgaaggcggaggaccggggcatgctgctgaaa accttcaacgagcccggctctgagtacttcatcttcctgctcagcacccgggctgggggg ctcggcctgaacctccagtcggcagacactgtgatcatttttgacagcgactggaatcct caccaggacctgcaagcgcaggaccgagcccaccgcatcgggcagcagaacgaggtgcgt gtgctccgcctctgcaccgtcaacagcgtggaggagaagatcctagctgcagccaagtac aagctcaacgtggaccagaaggtgatccaggccggcatgttcgaccagaagtcctccagc catgagcggcgcgccttcctgcaggccatcctggagcacgaggagcaggatgagagcaga cactgcagcacgggcagcggcagtgccagcttcgcccacactgcccctccgccagcgggc gtcaaccccgacttggaggagccacctctaaaggaggaagacgaggtgcccgacgacgag accgtcaaccagatgatcgcccggcacgaggaggagtttgatctgttcatgcgcatggac ctggaccgcaggcgcgaggaggcccgcaaccccaagcggaagccgcgcctcatggaggag gacgagctcccctcgtggatcatcaaggacgacgcggaggtggagcggctgacctgtgag gaggaggaggagaagatgttcggccgtggctcccgccaccgcaaggaggtggactacagc gactcactgacggagaagcagtggctcaaggccatcgaggagggcacgctggaggagatc gaagaggaggtccggcagaagaaatcatcacggaagcgcaagcgagacagcgacgccggc tcctccaccccgaccaccagcacccgcagccgcgacaaggacgacgagagcaagaagcag aagaagcgcgggcggccgcctgccgagaaactctcccctaacccacccaacctcaccaag aagatgaagaagattgtggatgccgtgatcaagtacaaggacagcagcagtggacgtcag ctcagcgaggtcttcatccagctgccctcgcgaaaggagctgcccgagtactacgagctc atccgcaagcccgtggacttcaagaagataaaggagcgcattcgcaaccacaagtaccgc agcctcaacgacctagagaaggacgtcatgctcctgtgccagaacgcacagaccttcaac ctggagggctccctgatctatgaagactccatcgtcttgcagtcggtcttcaccagcgtg cggcagaaaatcgagaaggaggatgacagtgaaggcgaggagagtgaggaggaggaagag ggcgaggaggaaggctccgaatccgaatctcggtccgtcaaagtgaagatcaagcttggc cggaaggagaaggcacaggaccggctgaagggcggccggcggcggccgagccgagggtcc cgagccaagccggtcgtgagtgacgatgacagtgaggaggaacaagaggaggaccgctca ggaagtggcagcgaagaagactga |
Protein Sequence |
>6597 : length: 1647 MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQG PGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGY PSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQL RAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGP GPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRG LDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSIL QHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRK LIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEES GSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGV SQALARGLQSYYAVAHAVTERVDKQSALMVNGVLKQYQIKGLEWLVSLYNNNLNGILADE MGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAA RRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEE TILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTD GSEKDKKGKGGTKTLMNTIMQLRKICNHPYMFQHIEESFSEHLGFTGGIVQGLDLYRASG KFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLK TFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESR HCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMD LDRRREEARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKMFGRGSRHRKEVDYS DSLTEKQWLKAIEEGTLEEIEEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQ KKRGRPPAEKLSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSV RQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGS RAKPVVSDDDSEEEQEEDRSGSGSEED |