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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRRC2A Gene

protein-coding   GIFtS: 50
GCID: GC06P031600

proline-rich coiled-coil 2A

(Previous name: HLA-B associated transcript 2 )
(Previous symbol: BAT2)
 Explore 14 diseases affiliated with
PRRC2A via our new
 Human Malady Compendium 
Biological research products
for PRRC2A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Proline-Rich Coiled-Coil 2A1 2     Proline-Rich And Coiled-Coil-Containing Protein 2A2 3
BAT21 2 3 5     Protein G22 3
G21 2 3     HLA-B-Associated Transcript 22 3
D6S51E1 2 5     D6S512
HLA-B Associated Transcript 21 2     Protein PRRC2A2
Large Proline-Rich Protein BAT22 3     

External Ids:    HGNC: 139181   Entrez Gene: 79162   Ensembl: ENSG000002044697   OMIM: 1425805   UniProtKB: P486343   

Export aliases for PRRC2A gene to outside databases

Previous GC identifers: GC06P031374 GC06P031592 GC06P031594


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRRC2A:
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)

UniProtKB/Swiss-Prot: PRC2A_HUMAN, P48634
Function: May play a role in the regulation of pre-mRNA splicing

Gene Wiki entry for PRRC2A (BAT2)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for PRRC2A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRRC2A promoter sequence
   Search SABiosciences Chromatin IP Primers for PRRC2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRRC2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

PRRC2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRRC2A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031600:  view genomic region     (about GC identifiers)

Start:
31,588,450 bp from pter      End:
31,605,554 bp from pter
Size:
17,105 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,ALT_REF_LOCI_2 31,575,863-31,632,154      Chr6+,ALT_REF_LOCI_3 31,570,625-31,598,767      Chr6+,ALT_REF_LOCI_4 31,550,993-31,568,097     
Chr6+,ALT_REF_LOCI_6 31,578,694-31,631,375      Chr6+,ALT_REF_LOCI_5 31,579,563-31,596,665      Chr6+,ALT_REF_LOCI_7 31,508,718-31,525,821     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PRC2A_HUMAN, P48634 (See protein sequence)
Recommended Name: Protein PRRC2A  
Size: 2157 amino acids; 228863 Da
Subcellular location: Cytoplasm. Nucleus
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;
Secondary accessions: B0UX77 B0UZE9 B0UZL3 O95875 Q05BK4 Q4LE37 Q5SQ29 Q5SQ30 Q5ST84 Q5STX6 Q5STX7
Q68DW9 Q6P9P7 Q6PIN1 Q8MGQ9 Q96QC6
Alternative splicing: 4 isoforms:  P48634-1   P48634-2   P48634-3   P48634-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRRC2A: NX_P48634

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48634

  • PRRC2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004629.3  NP_542417.2  

    ENSEMBL proteins: 
     ENSP00000365175   ENSP00000365201  

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    Uscn Proteins for PRRC2A

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    PRRC2A for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PRRC2A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009738 BAT2_N

    Graphical View of Domain Structure for InterPro Entry P48634

    ProtoNet protein and cluster: P48634


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PRC2A_HUMAN, P48634
    Function: May play a role in the regulation of pre-mRNA splicing

    miRNA
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    miRTarBase miRNAs that target PRRC2A:
    hsa-let-7b (MIRT005234)

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    PRRC2A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PRRC2A:
     Increased cell death in breast 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRRC2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for PRRC2A (P486341, 2, 3 ENSP000003651754) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542531, 2, 3, ENSP000002447694EBI-347545,EBI-930964 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442 I2D: score=3 STRING: ENSP00000244769
    C1QBPQ070212, 3, ENSP000002256984MINT-62735 MINT-62637 MINT-62811 I2D: score=5 STRING: ENSP00000225698
    CCR10P460922, 3, ENSP000003325044MINT-62802 MINT-62628 MINT-62726 I2D: score=5 STRING: ENSP00000332504
    FGAP026712, 3, ENSP000003063614MINT-62623 MINT-62721 MINT-62797 I2D: score=5 STRING: ENSP00000306361
    IMMTQ168912, 3, ENSP000003872624MINT-62725 MINT-62627 MINT-62801 I2D: score=5 STRING: ENSP00000387262
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRRC2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRRC2A
    1 PharmGKB related drug/compound annotation for PRRC2A gene
    Drug/compound PharmGKB Annotation
    carbamazepineCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about PRRC2A / PRC2A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRRC2A gene (2 alternative transcripts): 
    NM_004638.3  NM_080686.2  

    Unigene Cluster for PRRC2A:

    Proline-rich coiled-coil 2A
    Hs.436093  [show with all ESTs]
    Unigene Representative Sequence: NM_004638
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376007(uc011dnv.1 uc003nvb.4) ENST00000469577 ENST00000376033(uc003nvc.4)
    ENST00000464079 ENST00000464890 ENST00000483470 ENST00000460302 ENST00000484787
    ENST00000469501 ENST00000487089 ENST00000487839 ENST00000492691 ENST00000462617
    ENST00000482441

    miRNA
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    hsa-miR-495 hsa-miR-300 hsa-miR-381
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB210034.1 AF075059.1 AK297210.1 AK298584.1 AK302756.1 AK309774.1 BC030127.1 BC032134.2 
    BC042295.1 BC050408.1 BC060668.1 CR749245.1 M33509.1 

    24/30 DOTS entries (see all 30):

    DT.95319619  DT.95350369  DT.97763962  DT.92412731  DT.95228022  DT.100039278  DT.92453850  DT.92453852 
    DT.121406434  DT.91833257  DT.91833692  DT.92416778  DT.95173136  DT.97860787  DT.121406453  DT.121406464 
    DT.86857378  DT.95173133  DT.100811214  DT.100039277  DT.100798869  DT.100823013  DT.100823014  DT.121406444 

    5 AceView cDNA sequences:

    BE302895 BE389143 BI019233 BE278011 BG827834 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRRC2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAGACTCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PRRC2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PRRC2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRRC2A

    SOURCE GeneReport for Unigene cluster: Hs.436093

    UniProtKB/Swiss-Prot: PRC2A_HUMAN, P48634
    Tissue specificity: Limited to cell-lines of leukemic origin

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRC2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PRRC2A gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia PRRC2A6
    --
    56(a)
    1 ↔ 1
    2(193947910-193978099)
    African clawed frog
    (Xenopus laevis)
    Amphibia bat2-prov2 HLA-B associated transcript 2 78.47(n)    BC051009.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nfkbil12 nuclear factor of kappa light polypeptide gene enhancer more 81.03(n)   394248  BC055180.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    25(a)
    1 → many
    GroupUn.1357(8571-12635)
    worm
    (Caenorhabditis elegans)
    Secernentea F52G3.16
    Protein F52G3.1
    15(a)
    1 → many
    X(16963796-16972747)


    ENSEMBL Gene Tree for PRRC2A (if available)
    TreeFam Gene Tree for PRRC2A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRRC2A gene
    PRRC2B2  PRRC2C2  
    2 SIMAP similar genes for PRRC2A using alignment to 15 protein entries:     PRC2A_HUMAN (see all proteins):
    PRRC2C    BAT2L

    PRRC2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/567 NCBI SNPs in PRRC2A are shown (see all 567    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs92793731,2
    C--31375161(+) GGTGG-/TGGGGCCG 1 -- int11Minor allele frequency- TGG:0.00NA 2
    rs2020262851,2
    --31586453(+) GGCCC-/TTTTTT 2 -- us2k10--------
    rs28576951,2
    C,F,A,H--31586461(-) aagaaA/GaaaaA 2 -- us2k13Minor allele frequency- G:0.33WA NA 6
    rs1909528121,2
    --31586529(+) GTGGCA/GTGATC 2 -- us2k10--------
    rs93917301,2
    C,F--31586603(+) gctgaG/Aactac 2 -- us2k12Minor allele frequency- A:0.50NA 4
    rs30912801,2
    C,--31586742(+) ctacaG/Agcata 2 -- us2k14Minor allele frequency- A:0.45NA CSA EA 244
    rs69347191,2
    C,--31586761(+) cgcccA/GgccTC 2 -- us2k10--------
    rs1831591691,2
    --31586777(+) TCTTAA/GTAAGA 2 -- us2k10--------
    rs779153891,2
    C,--31586783(+) TAAGAG/ATTTTT 2 -- us2k12Minor allele frequency- A:0.05WA 120
    rs556930601,2
    C--31586827(+) CATATC/TTTATT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PRRC2A (31588450 - 31605554 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PRRC2A: --
    Human Gene Mutation Database (HGMD): PRRC2A

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PRRC2A for disorders           About GeneDecksing

    OMIM gene information: 142580    OMIM disorders: --

    14 diseases for PRRC2A:    About MalaCards
    rheumatoid arthritis    diabetes mellitus    arthritis    non-hodgkin lymphoma
    coronary artery aneurysm    systemic lupus erythematosus    lupus erythematosus    hodgkin's lymphoma
    ulcerative colitis    pancreatitis    asthma    ataxia
    obesity    malaria


    Export disorders for PRRC2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRRC2A gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with PRRC2A)
        Utopia: connect your pdf to the dynamic
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    1. A gene pair from the human major histocompatibility complex encodes large proline-rich proteins with multiple repeated motifs and a single ubiquitin-like domain. (PubMed id 2156268)1, 2, 3, 9 Banerji J.... Spies T. (1990)
    2. Dense Alu clustering and a potential new member of the NF kappa B family within a 90 kilobase HLA class III segment. (PubMed id 8499947)1, 2, 3 Iris F.J.M....Cohen D. (1993)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Antibodies generated by a novel DNA vaccination identify the MHC class III encoded BAT2 polypeptide. (PubMed id 15752841)1, 2 Schneiders A.... Koch N. (2005)
    5. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. (PubMed id 14667819)1, 2 Lehner B....Sanderson C.M. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (2003)
    9. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PubMed id 22267201)1 Stolk L....Lunetta K.L. (2012)
    10. PRRC2A and BCL2L11 gene variants influence risk of non -Hodgkin lymphoma: results from the InterLymph consortium. (PubMed id 23047821)1 Nieters A....Skibola C.F. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7916 HGNC: 13918 AceView: BAT2.5 Ensembl:ENSG00000204469 euGenes: HUgn7916
    ECgene: PRRC2A H-InvDB: PRRC2A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRRC2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PRRC2A gene:
    Search GeneIP for patents involving PRRC2A

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