Human Gene PRRC2A (uc003nvc.4)
  Description: Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 2, mRNA.
RefSeq Summary (NM_004638): A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010].
Transcript (Including UTRs)
   Position: hg19 chr6:31,588,450-31,605,554 Size: 17,105 Total Exon Count: 31 Strand: +
Coding Region
   Position: hg19 chr6:31,590,567-31,605,363 Size: 14,797 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,588,450-31,605,554)mRNA (may differ from genome)Protein (2157 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRC2A_HUMAN
DESCRIPTION: RecName: Full=Protein PRRC2A; AltName: Full=HLA-B-associated transcript 2; AltName: Full=Large proline-rich protein BAT2; AltName: Full=Proline-rich and coiled-coil-containing protein 2A; AltName: Full=Protein G2;
FUNCTION: May play a role in the regulation of pre-mRNA splicing.
INTERACTION: P54253:ATXN1; NbExp=4; IntAct=EBI-347545, EBI-930964; P05412:JUN; NbExp=2; IntAct=EBI-347545, EBI-852823;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Limited to cell-lines of leukemic origin.
DEVELOPMENTAL STAGE: Broadly expressed during the 11th week of gestation, with highest levels in the central nervous system, spinal ganglia, osteoblasts and osteocytes (at protein level).
SEQUENCE CAUTION: Sequence=AAA35585.1; Type=Frameshift; Positions=38, 58; Sequence=AAA35586.1; Type=Frameshift; Positions=38, 58; Sequence=BAE06116.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA78744.1; Type=Frameshift; Positions=38, 58;

-  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: PRRC2A
Diseases sorted by gene-association score: coronary artery aneurysm (5), spondylolisthesis (5)

-  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: 122.36 RPKM in Testis
Total median expression: 2113.83 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 -134.00286-0.469 Picture PostScript Text
3' UTR -84.70191-0.443 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
IPR009738 - BAT2_N

Pfam Domains:
PF07001 - BAT2 N-terminus

ModBase Predicted Comparative 3D Structure on P48634
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0030154 cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC050408 - Homo sapiens, clone IMAGE:6197872, mRNA.
AB210034 - Homo sapiens mRNA for C6orf21 variant protein, partial cds, clone: hj06729.
AK309774 - Homo sapiens cDNA, FLJ99815.
AK302756 - Homo sapiens cDNA FLJ56810 complete cds, highly similar to Large proline-rich protein BAT2.
BC042295 - Homo sapiens HLA-B associated transcript 2, mRNA (cDNA clone MGC:48688 IMAGE:5555847), complete cds.
BC060668 - Homo sapiens HLA-B associated transcript 2, mRNA (cDNA clone MGC:57530 IMAGE:6471026), complete cds.
BC032134 - Homo sapiens HLA-B associated transcript 2, mRNA (cDNA clone IMAGE:4653409), partial cds.
M33509 - Human HLA-B-associated transcript 2 (BAT2) mRNA, complete cds.
AB384680 - Synthetic construct DNA, clone: pF1KB0056, Homo sapiens BAT2 gene for large proline-rich protein BAT2, complete cds, without stop codon, in Flexi system.
AF075059 - Homo sapiens full length insert cDNA YO70F05.
DQ574007 - Homo sapiens piRNA piR-42119, complete sequence.
AK297210 - Homo sapiens cDNA FLJ56600 complete cds, highly similar to Large proline-rich protein BAT2.
CR749245 - Homo sapiens mRNA; cDNA DKFZp686D09175 (from clone DKFZp686D09175).
BC030127 - Homo sapiens, Similar to HLA-B associated transcript 2, clone IMAGE:3345434, mRNA, partial cds.
AK298584 - Homo sapiens cDNA FLJ56925 complete cds, highly similar to Large proline-rich protein BAT2.
JD235051 - Sequence 216075 from Patent EP1572962.
JD426223 - Sequence 407247 from Patent EP1572962.
JD368504 - Sequence 349528 from Patent EP1572962.
JD150372 - Sequence 131396 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0UX77, B0UZE9, B0UZL3, BAT2, G2, NM_004638, NP_542417, O95875, P48634, PRC2A_HUMAN, Q05BK4, Q4LE37, Q5SQ29, Q5SQ30, Q5ST84, Q5STX6, Q5STX7, Q68DW9, Q6P9P7, Q6PIN1, Q8MGQ9, Q96QC6
UCSC ID: uc003nvc.4
RefSeq Accession: NM_004638
Protein: P48634 (aka PRC2A_HUMAN)
CCDS: CCDS4708.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004638.3
exon count: 31CDS single in 3' UTR: no RNA size: 6958
ORF size: 6474CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 11394.00frame shift in genome: no % Coverage: 99.90
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.