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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
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.
Chromosome
17
Cytoband
q23.3
Chromosome location (bp)
63832081 - 63843065
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner 1,2. Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation 3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which 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 and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
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.
J3KMX2 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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GO:0005654[nucleoplasm] GO:0006338[chromatin remodeling] GO:0016043[cellular component organization] GO:0016514[SWI/SNF complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0035060[brahma complex] GO:0045582[positive regulation of T cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Q92925 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006337[nucleosome disassembly] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0016043[cellular component organization] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0035060[brahma complex] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0070316[regulation of G0 to G1 transition] GO:0140092[bBAF complex] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
Q92925 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000776[kinetochore] GO:0000785[chromatin] GO:0003712[transcription coregulator activity] GO:0003713[transcription coactivator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006325[chromatin organization] GO:0006337[nucleosome disassembly] GO:0006338[chromatin remodeling] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0016043[cellular component organization] GO:0016363[nuclear matrix] GO:0016514[SWI/SNF complex] GO:0016586[RSC-type complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0031492[nucleosomal DNA binding] GO:0032991[protein-containing complex] GO:0035060[brahma complex] GO:0045582[positive regulation of T cell differentiation] GO:0045597[positive regulation of cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0070316[regulation of G0 to G1 transition] GO:0140092[bBAF complex] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
J3QWB6 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
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GO:0006338[chromatin remodeling] GO:0016043[cellular component organization] GO:0016514[SWI/SNF complex] GO:0030071[regulation of mitotic metaphase/anaphase transition] GO:0035060[brahma complex] GO:0045582[positive regulation of T cell differentiation] GO:0045663[positive regulation of myoblast differentiation] GO:0070316[regulation of G0 to G1 transition] GO:2000045[regulation of G1/S transition of mitotic cell cycle] GO:2000781[positive regulation of double-strand break repair] GO:2000819[regulation of nucleotide-excision repair]
J3KT18 [Direct mapping] SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
