Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | 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

TSG scores

Description

TUSON ranking

51

TUSON P-value

3.83E-09

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

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

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



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