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GENERAL INFORMATION
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Protein class
Protein class the gene product belongs to according to selected gene lists. List of protein classes.
Predicted localization
Protein localization predicted from several bioinformatic algorithms. More info...
Number of transcripts
Number of protein-coding transcribed from this gene as defined by Ensembl.
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Gene name |
SMARCA4 |
Gene description |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
Protein class |
Cancer-related genes Disease related genes Plasma proteins Predicted intracellular proteins |
Predicted localization |
Intracellular |
Number of transcripts |
10 |
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HUMAN PROTEIN ATLAS INFORMATION
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RNA tissue category
The RNA tissue category is based on mRNA expression levels in 32 different tissues ( RNA assay description).
The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, not detected, and mixed.
RNA tissue category is calculated separately both for internally generated Human Protein Atlas (HPA) RNA-seq data, as
well as RNA-seq data from the Genotype-Tissue Expression ( GTEx) consortium.
Protein evidence
Protein evidence scores are generated from several independent sources
and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence or iv) not available.
Protein localization
A summary of the overall protein expression pattern across the analyzed tissues. The summary is based on knowledge-based
annotation ( Annotation description). For genes pending
knowledge-based annotation, the protein localization refers to the antibody staining pattern.
"RNA-based expert annotation gave inconconclusive results" is shown for genes analyzed with a knowledge-based approach where
available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with
immunohistochemistry-data to yield a reliable estimation of the protein expression profile.
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RNA tissue category |
HPA: | Expressed in all |
GTEx: | Expressed in all |
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Protein evidence |
Evidence at protein level |
Protein localization |
Ubiquitous nuclear expression. |
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ANTIBODY RELIABILITY
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Data reliability description
Standardized explanatory sentences with additional information required for full understanding of the
knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based
annotation, indicated by "Pending RNA-based expert annotation", when applicable.
Data reliability
Data reliability score ( score description), divided into supportive (premium)
or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several
antibodies with RNA-seq data and available gene/protein characterization data.
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Data reliability description |
Antibody staining consistent with RNA expression data. |
Data reliability |
Supportive based on 1 antibody.
CAB004208
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PROTEIN EXPRESSION OVERVIEW
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Protein expression data is shown for each of the 44 tissues. Color-coding is based on 13 tissue groups, each consisting
of tissues with common functional features. Mouse-over function shows protein score for analyzed cell types found in a
selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in
detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation could not be performed, no protein
expression data is displayed in the protein expression data overview, however, all immunohistochemical images are
still available and the annotation data can be found under Primary data.
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GENE INFORMATION
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Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
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Gene name |
SMARCA4 (HGNC Symbol) |
Synonyms |
BAF190, BRG1, FLJ39786, hSNF2b, SNF2, SNF2-BETA, SNF2L4, SNF2LB, SWI2 |
Description |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (HGNC Symbol) |
Entrez gene summary |
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 |
Cytoband |
p13.2 |
Chromosome location (bp) |
10961001 - 11065395 |
Protein evidence |
Evidence at protein level (all genes) |
Ensembl |
ENSG00000127616 (version 78.38) |
Entrez gene |
6597 |
UniProt |
P51532 (UniProt - Evidence at protein level) |
neXtProt |
NX_P51532 |
Antibodypedia |
SMARCA4 antibodies |
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PROTEIN BROWSER
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The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The
tabs at the top of the protein view section can be used to switch between the different splice variants to which
an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green
bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is
displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues
(HsID 50) ( read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0, and
Phobius (turquoise)
and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow
and InterPro regions in green. Common (purple) and
unique (grey) regions between different splice variants of the gene are also displayed
( read more), and at the
bottom of the protein view is the protein scale.
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PROTEIN INFORMATION
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The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this
gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary
for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching
UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the
protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are
listed if expanding the Gene ontology column.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a
majority of the signal peptide predictors SPOCTOPUS,
SignalP 4.0 and
Phobius) and the number of predicted transmembrane region(s)
(according to MDM) are also reported.
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Splice variant |
Ensembl |
UniProt |
Protein class |
Gene ontology |
Length (aa) |
Molecular mass (kDa) |
Signal peptide (predicted) |
Transmembrane regions (predicted)
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SMARCA4-001 |
ENSP00000343896
ENST00000344626
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P51532 Show all »
« Hide
P51532 [Direct mapping]Transcription activator BRG1 A7E2E1 [Target identity:100%; Query identity:100%]SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 {ECO:0000313|EMBL:AAI50299.1}; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, isoform CRA_a {ECO:0000313|EMBL:EAW84162.1}; cDNA FLJ77531, highly similar to Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), mRNA {ECO:0000313|EMBL:BAF82722.1} B4DSI8 [Target identity:52%; Query identity:100%]cDNA FLJ60344, highly similar to Probable global transcription activator SNF2L4 {ECO:0000313|EMBL:BAG61650.1}
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1647 |
184.6 |
No |
0 |
SMARCA4-002 |
ENSP00000466963
ENST00000590574
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P51532 Show all »
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P51532 [Direct mapping]Transcription activator BRG1 B3KNW7 [Target identity:45%; Query identity:100%]cDNA FLJ30606 fis, clone CTONG2000330, highly similar to Probable global transcription activator SNF2L4 {ECO:0000313|EMBL:BAG51479.1}
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1614 |
181.3 |
No |
0 |
SMARCA4-003 |
ENSP00000392837
ENST00000444061
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P51532 Show all »
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P51532 [Direct mapping]Transcription activator BRG1
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Show »
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1613 |
181.3 |
No |
0 |
SMARCA4-004 |
ENSP00000464778
ENST00000589677
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P51532 Show all »
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P51532 [Direct mapping]Transcription activator BRG1
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Show »
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1616 |
181.6 |
No |
0 |
SMARCA4-005 |
ENSP00000445036
ENST00000541122
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P51532 Show all »
« Hide
P51532 [Direct mapping]Transcription activator BRG1
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Show »
« Hide
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1617 |
181.7 |
No |
0 |
SMARCA4-007 |
ENSP00000395654
ENST00000429416
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P51532 Show all »
« Hide
P51532 [Direct mapping]Transcription activator BRG1 A7E2E1 [Target identity:100%; Query identity:100%]SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 {ECO:0000313|EMBL:AAI50299.1}; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, isoform CRA_a {ECO:0000313|EMBL:EAW84162.1}; cDNA FLJ77531, highly similar to Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), mRNA {ECO:0000313|EMBL:BAF82722.1} B4DSI8 [Target identity:52%; Query identity:100%]cDNA FLJ60344, highly similar to Probable global transcription activator SNF2L4 {ECO:0000313|EMBL:BAG61650.1}
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1647 |
184.6 |
No |
0 |
SMARCA4-015 |
ENSP00000467796
ENST00000586985
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Show »
« Hide
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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113 |
12.6 |
No |
0 |
SMARCA4-018 |
ENSP00000467200
ENST00000592158
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K7EP28 Show all »
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K7EP28 [Target identity:100%; Query identity:100%]Transcription activator BRG1 {ECO:0000313|Ensembl:ENSP00000467200}
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Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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136 |
15.7 |
No |
0 |
SMARCA4-201 |
ENSP00000414727
ENST00000413806
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1681 |
188.9 |
No |
0 |
SMARCA4-202 |
ENSP00000397783
ENST00000450717
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Q9HBD4 Show all »
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Q9HBD4 [Target identity:100%; Query identity:100%]SMARCA4 isoform 2 {ECO:0000313|EMBL:AAG24790.1}; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, isoform CRA_c {ECO:0000313|EMBL:EAW84164.1}
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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1679 |
188.1 |
No |
0 |
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