| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 6597 |
Name | SMARCA4 |
Synonym | BAF190|BAF190A|BRG1|MRD16|RTPS2|SNF2|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|BRG1-associated factor 190A|BRM/SWI2-related gene 1|SNF2-beta|SNF2-like 4|brahma protein-like 1|global transcription activator homologous sequence|homeotic gene regulator|mitotic growth and transcription activator|nuclear pr |
Position | 19p13.2 |
Gene Type | protein-coding |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 6597 |
Links to all GeneRIF Items | 6597 |
Links to iHOP | 6597 |
Sequence Information | |
Nucleotide Sequence | >6597 : length: 5801 GTCGCCGGACAAAGCTCGCCCCCCTCGCCCGGCACCCCTACAGTCGCCCTCCCAATTACA GCGGCTGCAACAATAGGCAGGCGTTGGGGCTTTTCTGGCTGCGTGGTAACGGGTCCGACC CGAATGTTGCGTTTTTGGCGAAGCTGCGATCGGGGCTCAGCCAAACCTCCAGATATGTCC GGCGTCGGCCGGACACGGGCATTAGCGGTCCCCTTGGGCTAGCCGACCTCAAATTGTCTT AAAAACGTGTCATTCCAGATTTTCAAGGAAAGGAGGCCACTGTCTGCAGCTCCCGTGAAG 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 GACTCACTGACGGAGAAGCAGTGGCTCAAGAAAATTACAGGAAAAGATATCCATGACACA GCCAGCAGTGTGGCACGTGGGCTACAATTCCAGCGTGGCCTTCAGTTCTGCACACGTGCG TCAAAGGCCATCGAGGAGGGCACGCTGGAGGAGATCGAAGAGGAGGTCCGGCAGAAGAAA TCATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCACCCCGACCACCAGCACC CGCAGCCGCGACAAGGACGACGAGAGCAAGAAGCAGAAGAAGCGCGGGCGGCCGCCTGCC GAGAAACTCTCCCCTAACCCACCCAACCTCACCAAGAAGATGAAGAAGATTGTGGATGCC GTGATCAAGTACAAGGACAGCAGCAGTGGACGTCAGCTCAGCGAGGTCTTCATCCAGCTG CCCTCGCGAAAGGAGCTGCCCGAGTACTACGAGCTCATCCGCAAGCCCGTGGACTTCAAG AAGATAAAGGAGCGCATTCGCAACCACAAGTACCGCAGCCTCAACGACCTAGAGAAGGAC GTCATGCTCCTGTGCCAGAACGCACAGACCTTCAACCTGGAGGGCTCCCTGATCTATGAA GACTCCATCGTCTTGCAGTCGGTCTTCACCAGCGTGCGGCAGAAAATCGAGAAGGAGGAT GACAGTGAAGGCGAGGAGAGTGAGGAGGAGGAAGAGGGCGAGGAGGAAGGCTCCGAATCC GAATCTCGGTCCGTCAAAGTGAAGATCAAGCTTGGCCGGAAGGAGAAGGCACAGGACCGG CTGAAGGGCGGCCGGCGGCGGCCGAGCCGAGGGTCCCGAGCCAAGCCGGTCGTGAGTGAC GATGACAGTGAGGAGGAACAAGAGGAGGACCGCTCAGGAAGTGGCAGCGAAGAAGACTGA GCCCCGACATTCCAGTCTCGACCCCGAGCCCCTCGTTCCAGAGCTGAGATGGCATAGGCC TTAGCAGTAACGGGTAGCAGCAGATGTAGTTTCAGACTTGGAGTAAAACTGTATAAACAA AAGAATCTTCCATATTTATACAGCAGAGAAGCTGTAGGACTGTTTGTGACTGGCCCTGTC CTGGCATCAGTAGCATCTGTAACAGCATTAACTGTCTTAAAGAGAGAGAGAGAGAATTCC GAATTGGGGAACACACGATACCTGTTTTTCTTTTCCGTTGCTGGCAGTACTGTTGCGCCG CAGTTTGGAGTCACTGTAGTTAAGTGTGGATGCATGTGCGTCACCGTCCACTCCTCCTAC TGTATTTTATTGGACAGGTCAGACTCGCCGGGGGCCCGGCGAGGGTATGTCAGTGTCACT GGATGTCAAACAGTAATAAATTAAACCAACAACAAAACGCA |
Protein Sequence | >6597 : length: 1679 MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQG PGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGY PSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQL RAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGP GPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRG LDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSIL QHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRK LIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEES GSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGV SQALARGLQSYYAVAHAVTERVDKQSALMVNGVLKQYQIKGLEWLVSLYNNNLNGILADE MGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAA RRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEE TILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTD GSEKDKKGKGGTKTLMNTIMQLRKICNHPYMFQHIEESFSEHLGFTGGIVQGLDLYRASG KFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLK TFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESR HCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMD LDRRREEARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKMFGRGSRHRKEVDYS DSLTEKQWLKKITGKDIHDTASSVARGLQFQRGLQFCTRASKAIEEGTLEEIEEEVRQKK SSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQKKRGRPPAEKLSPNPPNLTKKMKKIVDA VIKYKDSSSGRQLSEVFIQLPSRKELPEYYELIRKPVDFKKIKERIRNHKYRSLNDLEKD VMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSVRQKIEKEDDSEGEESEEEEEGEEEGSES ESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGSRAKPVVSDDDSEEEQEEDRSGSGSEED |