Human Gene TRA2B (ENST00000453386.7_11) from GENCODE V47lift37
  Description: transformer 2 beta homolog, transcript variant 1 (from RefSeq NM_004593.3)
Gencode Transcript: ENST00000453386.7_11
Gencode Gene: ENSG00000136527.19_13
Transcript (Including UTRs)
   Position: hg19 chr3:185,632,346-185,655,802 Size: 23,457 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr3:185,635,503-185,655,648 Size: 20,146 Coding Exon Count: 9 

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 (chr3:185,632,346-185,655,802)mRNA (may differ from genome)Protein (288 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRA2B_HUMAN
DESCRIPTION: RecName: Full=Transformer-2 protein homolog beta; Short=TRA-2 beta; Short=TRA2-beta; Short=hTRA2-beta; AltName: Full=Splicing factor, arginine/serine-rich 10; AltName: Full=Transformer-2 protein homolog B;
FUNCTION: Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing. Can either activate or suppress exon inclusion. Acts additively with RBMX to promote exon 7 inclusion of the survival motor neuron SMN2. Activates the splicing of MAPT/Tau exon 10. Alters pre-mRNA splicing patterns by antagonizing the effects of splicing regulators, like RBMX. Binds to the AG-rich SE2 domain in the SMN exon 7 RNA. Binds to pre- mRNA.
SUBUNIT: Interacts with SAFB/SAFB1 (By similarity). Found in a pre-mRNA exonic splicing enhancer (ESE) complex with TRA2B/SFRS10, SNRNP70, SNRPA1 and SRRM1. Binds to A3 enhancer proteins SFRS4, SFRS5, SFRS6 and SFRS9. Interacts with CPSF6, RBMY1A1, RBMX, RNPS1 and phosphorylated SFRS13A.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highest expression in heart, skeletal muscle and pancreas. Less abundant in kidney, placenta and brain. Lowest expression in kidney and liver.
PTM: Phosphorylated in the RS domains.
PTM: Dimethylation at Arg-241 is probably asymmetric.
SIMILARITY: Belongs to the splicing factor SR family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  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: TRA2B
Diseases sorted by gene-association score: dementia, frontotemporal (1)

-  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: 60.30 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1358.77 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
5' UTR -63.10154-0.410 Picture PostScript Text
3' UTR -849.103157-0.269 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
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CQC - NMR MuPIT 2KXN - NMR MuPIT 2RRA - NMR MuPIT 2RRB - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P62995
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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 Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0036002 pre-mRNA binding
GO:0042802 identical protein binding
GO:0070717 poly-purine tract binding

Biological Process:
GO:0000302 response to reactive oxygen species
GO:0000375 RNA splicing, via transesterification reactions
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0021796 cerebral cortex regionalization
GO:0043484 regulation of RNA splicing
GO:0048025 negative regulation of mRNA splicing, via spliceosome
GO:0048026 positive regulation of mRNA splicing, via spliceosome
GO:0051259 protein oligomerization
GO:0071333 cellular response to glucose stimulus
GO:1990403 embryonic brain development

Cellular Component:
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  U61267 - Homo sapiens putative splice factor transformer2-beta mRNA, complete cds.
U68063 - Human transformer-2 beta (htra-2 beta) mRNA, complete cds.
AK094495 - Homo sapiens cDNA FLJ37176 fis, clone BRACE2028621, highly similar to Splicing factor, arginine/serine-rich 10.
AK098191 - Homo sapiens cDNA FLJ40872 fis, clone TUTER2000283, highly similar to Homo sapiens transformer-2-beta (SFRS10) gene.
CR749214 - Homo sapiens mRNA; cDNA DKFZp686F18120 (from clone DKFZp686F18120).
JD114566 - Sequence 95590 from Patent EP1572962.
JD299843 - Sequence 280867 from Patent EP1572962.
JD409209 - Sequence 390233 from Patent EP1572962.
JD042957 - Sequence 23981 from Patent EP1572962.
BC005898 - Homo sapiens transformer 2 beta homolog (Drosophila), mRNA (cDNA clone MGC:14477 IMAGE:4046349), complete cds.
BC000451 - Homo sapiens transformer 2 beta homolog (Drosophila), mRNA (cDNA clone MGC:8454 IMAGE:2821443), complete cds.
BC000160 - Homo sapiens transformer 2 beta homolog (Drosophila), mRNA (cDNA clone MGC:5047 IMAGE:2984771), complete cds.
AK091863 - Homo sapiens cDNA FLJ34544 fis, clone HLUNG2008885, highly similar to Rattus norvegicus mRNA for RNA binding protein (transformer-2-like).
AK125610 - Homo sapiens cDNA FLJ43622 fis, clone SPLEN2023706, highly similar to Homo sapiens transformer-2-beta (SFRS10) gene.
AB209208 - Homo sapiens mRNA for splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila) variant protein.
JD530198 - Sequence 511222 from Patent EP1572962.
JD538869 - Sequence 519893 from Patent EP1572962.
AK308267 - Homo sapiens cDNA, FLJ98215.
AK301118 - Homo sapiens cDNA FLJ54818 complete cds, highly similar to Arginine/serine-rich-splicing factor 10.
AB590346 - Synthetic construct DNA, clone: pFN21AE0917, Homo sapiens TRA2B gene for transformer 2 beta homolog, without stop codon, in Flexi system.
DQ890937 - Synthetic construct clone IMAGE:100003567; FLH167692.01X; RZPDo839D1290D splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila) (SFRS10) gene, encodes complete protein.
EU176532 - Synthetic construct Homo sapiens clone IMAGE:100011632; FLH263981.01L; RZPDo839D04245D splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila) (SFRS10) gene, encodes complete protein.
AK315632 - Homo sapiens cDNA, FLJ96718, highly similar to Homo sapiens splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila) (SFRS10), mRNA.
U87836 - Homo sapiens htra2-beta-2 mRNA, complete cds.
JD460435 - Sequence 441459 from Patent EP1572962.

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

Protein P62995 (Reactome details) participates in the following event(s):

R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B4DVK2, D3DNU3, ENST00000453386.1, ENST00000453386.2, ENST00000453386.3, ENST00000453386.4, ENST00000453386.5, ENST00000453386.6, NM_004593, O15449, P62995, Q15815, Q64283, SFRS10, TRA2B , TRA2B_HUMAN, uc320upp.1, uc320upp.2
UCSC ID: ENST00000453386.7_11
RefSeq Accession: NM_004593.3
Protein: P62995 (aka TRA2B_HUMAN or TR2B_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.