SMARCA4

GENERAL INFORMATION

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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

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear expression.

ANTIBODY RELIABILITY

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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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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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


PROTEIN BROWSER

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ENST00000344626
 
ENST00000413806
 
ENST00000429416
 
ENST00000444061
 
ENST00000450717
 
ENST00000541122
 
ENST00000586985
 
ENST00000589677
 
ENST00000590574
 
ENST00000592158
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMARCA4-001 ENSP00000343896
ENST00000344626
P51532
Show all »
Show » Show » 1647 184.6 No 0
SMARCA4-002 ENSP00000466963
ENST00000590574
P51532
Show all »
Show » Show » 1614 181.3 No 0
SMARCA4-003 ENSP00000392837
ENST00000444061
P51532
Show all »
Show » Show » 1613 181.3 No 0
SMARCA4-004 ENSP00000464778
ENST00000589677
P51532
Show all »
Show » Show » 1616 181.6 No 0
SMARCA4-005 ENSP00000445036
ENST00000541122
P51532
Show all »
Show » Show » 1617 181.7 No 0
SMARCA4-007 ENSP00000395654
ENST00000429416
P51532
Show all »
Show » Show » 1647 184.6 No 0
SMARCA4-015 ENSP00000467796
ENST00000586985
Show » Show » 113 12.6 No 0
SMARCA4-018 ENSP00000467200
ENST00000592158
K7EP28
Show all »
Show » Show » 136 15.7 No 0
SMARCA4-201 ENSP00000414727
ENST00000413806
Show » Show » 1681 188.9 No 0
SMARCA4-202 ENSP00000397783
ENST00000450717
Q9HBD4
Show all »
Show » Show » 1679 188.1 No 0