Human Gene SMARCD2 (ENST00000448276.7_7) from GENCODE V47lift37
  Description: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2, transcript variant 1 (from RefSeq NM_001098426.2)
Gencode Transcript: ENST00000448276.7_7
Gencode Gene: ENSG00000108604.18_14
Transcript (Including UTRs)
   Position: hg19 chr17:61,909,441-61,920,045 Size: 10,605 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr17:61,910,298-61,920,034 Size: 9,737 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:61,909,441-61,920,045)mRNA (may differ from genome)Protein (531 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SMRD2_HUMAN
DESCRIPTION: RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2; AltName: Full=60 kDa BRG-1/Brm-associated factor subunit B; AltName: Full=BRG1-associated factor 60B; Short=BAF60B;
FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
SUBUNIT: Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. May interact with SMARCA4, the catalytic subunit of the SWI/SNF related nucleosome- remodeling complexes BRG1(I) and BRG1(II). The precise distribution of the related SMARCD1, SMARCD2 and SMARCD3 proteins among these and other SWI/SNF nucleosome-remodeling complexes is not fully known. Interacts with UNKL.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Isoform 2 is expressed in the pancreas.
PTM: Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL.
SIMILARITY: Belongs to the SMARCD family.
SIMILARITY: Contains 1 SWIB domain.
SEQUENCE CAUTION: Sequence=AAC50696.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF20280.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SMARCD2
Diseases sorted by gene-association score: specific granule deficiency 2* (900), specific granule deficiency* (283), neutrophil-specific granule deficiency* (283)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 59.54 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 1465.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -347.50857-0.405 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003121 - SWIB_MDM2_domain

Pfam Domains:
PF02201 - SWIB/MDM2 domain

SCOP Domains:
47592 - SWIB/MDM2 domain

ModBase Predicted Comparative 3D Structure on Q92925
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0031492 nucleosomal DNA binding

Biological Process:
GO:0006325 chromatin organization
GO:0006337 nucleosome disassembly
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0043044 ATP-dependent chromatin remodeling

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016514 SWI/SNF complex
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  LF209398 - JP 2014500723-A/16901: Polycomb-Associated Non-Coding RNAs.
AK025917 - Homo sapiens cDNA: FLJ22264 fis, clone HRC03066, highly similar to AF113019 Homo sapiens PRO2451 mRNA.
BC018953 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2, mRNA (cDNA clone IMAGE:4303183), partial cds.
AF113019 - Homo sapiens PRO2451 mRNA, complete cds.
BC142963 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2, mRNA (cDNA clone MGC:167047 IMAGE:8860380), complete cds.
JD180975 - Sequence 161999 from Patent EP1572962.
LF328296 - JP 2014500723-A/135799: Polycomb-Associated Non-Coding RNAs.
JD213908 - Sequence 194932 from Patent EP1572962.
JD471097 - Sequence 452121 from Patent EP1572962.
JD550404 - Sequence 531428 from Patent EP1572962.
JD149782 - Sequence 130806 from Patent EP1572962.
JD324855 - Sequence 305879 from Patent EP1572962.
JD207158 - Sequence 188182 from Patent EP1572962.
JD565784 - Sequence 546808 from Patent EP1572962.
LF328297 - JP 2014500723-A/135800: Polycomb-Associated Non-Coding RNAs.
BC136322 - Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2, mRNA (cDNA clone MGC:167932 IMAGE:9020309), complete cds.
AK303951 - Homo sapiens cDNA FLJ53269 complete cds, highly similar to SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2.
JD103452 - Sequence 84476 from Patent EP1572962.
JD382357 - Sequence 363381 from Patent EP1572962.
JD425843 - Sequence 406867 from Patent EP1572962.
JD446088 - Sequence 427112 from Patent EP1572962.
LF328298 - JP 2014500723-A/135801: Polycomb-Associated Non-Coding RNAs.
AK307944 - Homo sapiens cDNA, FLJ97892.
JD465597 - Sequence 446621 from Patent EP1572962.
AK300939 - Homo sapiens cDNA FLJ59246 complete cds, highly similar to Rattus norvegicus SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (Smarcd2), mRNA.
JD225501 - Sequence 206525 from Patent EP1572962.
JD294936 - Sequence 275960 from Patent EP1572962.
U66618 - Human SWI/SNF complex 60 KDa subunit (BAF60b) mRNA, complete cds.
JD181234 - Sequence 162258 from Patent EP1572962.
JD252378 - Sequence 233402 from Patent EP1572962.
JD163528 - Sequence 144552 from Patent EP1572962.
JD515337 - Sequence 496361 from Patent EP1572962.
KJ905317 - Synthetic construct Homo sapiens clone ccsbBroadEn_14842 SMARCD2-like gene, encodes complete protein.
LF328299 - JP 2014500723-A/135802: Polycomb-Associated Non-Coding RNAs.
LF328300 - JP 2014500723-A/135803: Polycomb-Associated Non-Coding RNAs.
LF328301 - JP 2014500723-A/135804: Polycomb-Associated Non-Coding RNAs.
LF328302 - JP 2014500723-A/135805: Polycomb-Associated Non-Coding RNAs.
MA563873 - JP 2018138019-A/135799: Polycomb-Associated Non-Coding RNAs.
MA563874 - JP 2018138019-A/135800: Polycomb-Associated Non-Coding RNAs.
MA563875 - JP 2018138019-A/135801: Polycomb-Associated Non-Coding RNAs.
MA563876 - JP 2018138019-A/135802: Polycomb-Associated Non-Coding RNAs.
MA563877 - JP 2018138019-A/135803: Polycomb-Associated Non-Coding RNAs.
MA563878 - JP 2018138019-A/135804: Polycomb-Associated Non-Coding RNAs.
MA563879 - JP 2018138019-A/135805: Polycomb-Associated Non-Coding RNAs.
MA444975 - JP 2018138019-A/16901: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q92925 (Reactome details) participates in the following event(s):

R-HSA-3215448 SWI/SNF chromatin remodelling complex enhances MEP50:PRMT5 methyltransferase activity
R-HSA-8938217 RUNX1 binds the SWI/SNF complex
R-HSA-3214858 RMTs methylate histone arginines
R-HSA-8939243 RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-4839726 Chromatin organization
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A5PLL5, A6NNQ7, B4DV56, B4E1R6, BAF60B, ENST00000448276.1, ENST00000448276.2, ENST00000448276.3, ENST00000448276.4, ENST00000448276.5, ENST00000448276.6, NM_001098426, PRO2451, Q7L2I6, Q92925, Q9UHZ1, SMRD2_HUMAN, uc320pwa.1, uc320pwa.2
UCSC ID: ENST00000448276.7_7
RefSeq Accession: NM_001098426.2
Protein: Q92925 (aka SMRD2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.