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Aliases for PRRC2A Gene

Aliases for PRRC2A Gene

  • Proline Rich Coiled-Coil 2A 2 3 5
  • Proline-Rich And Coiled-Coil-Containing Protein 2A 3 4
  • Large Proline-Rich Protein BAT2 3 4
  • HLA-B-Associated Transcript 2 3 4
  • Protein G2 3 4
  • BAT2 3 4
  • G2 3 4
  • HLA-B Associated Transcript 2 2
  • Proline-Rich Coiled-Coil 2A 2
  • Protein PRRC2A 3
  • D6S51E 3
  • D6S51 3

External Ids for PRRC2A Gene

Previous HGNC Symbols for PRRC2A Gene

  • BAT2

Previous GeneCards Identifiers for PRRC2A Gene

  • GC06P031374
  • GC06P031592
  • GC06P031594
  • GC06P031600
  • GC06P031719
  • GC06P031761
  • GC06P031685
  • GC06P031752
  • GC06P031759
  • GC06P031774
  • GC06P031773
  • GC06P031864
  • GC06P031747

Summaries for PRRC2A Gene

Entrez Gene Summary for PRRC2A Gene

  • 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]

GeneCards Summary for PRRC2A Gene

PRRC2A (Proline Rich Coiled-Coil 2A) is a Protein Coding gene. Diseases associated with PRRC2A include Coronary Artery Aneurysm and Spondylolisthesis. An important paralog of this gene is PRRC2B.

UniProtKB/Swiss-Prot for PRRC2A Gene

  • May play a role in the regulation of pre-mRNA splicing.

Gene Wiki entry for PRRC2A Gene

Additional gene information for PRRC2A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRRC2A Gene

Genomics for PRRC2A Gene

GeneHancer (GH) Regulatory Elements for PRRC2A Gene

Promoters and enhancers for PRRC2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I031619 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 554 4 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC GC06P031990 GC06P032044 GC06P032046 GC06P032049 GC06P032051 GC06P032055 GC06P032056 GC06P032063 GC06P032067 GC06P032070
GH06I031774 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 22.6 +156.1 156133 3.8 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF263 SP3 VWA7 GTF2H4 DXO PPT2 EGFL8 ZBTB12 PRRC2A PRRT1 NFKBIL1 C4A
GH06I031083 Enhancer 1.1 Ensembl ENCODE 13.7 -536.7 -536684 0.9 PKNOX1 SMAD1 ATF1 ARNT GTF3C2 ZNF143 ATF7 REST ATF4 SMARCA4 RNU6-1133P GC06P031966 HCG22 HLA-C PRRC2A PSORS1C1 MDC1 HCG18 TRIM39 PSORS1C2
GH06I031614 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 0.8 -4.8 -4839 3.7 HDGF HDAC1 ELF3 FOXA2 IRF4 ZNF335 ZNF121 ATF7 ETV6 BCLAF1 AIF1 BAG6 LY6G5B HLA-DRB1 SKIV2L LY6G5C LST1 LTB C4A DDX39B
GH06I031633 Enhancer 0.5 ENCODE 0.4 +13.7 13680 0.8 CTCF GLIS2 POLR2A ZBTB48 PRDM1 MIR6832 LY6G5C C4A VWA7 PRRC2A PIR52923
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRRC2A on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRRC2A Gene

Genomic Locations for PRRC2A Gene
chr6:31,620,673-31,637,777
(GRCh38/hg38)
Size:
17,105 bases
Orientation:
Plus strand
chr6:31,588,450-31,605,554
(GRCh37/hg19)

Genomic View for PRRC2A Gene

Genes around PRRC2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRC2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRC2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for PRRC2A Gene

  • Protein details for PRRC2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48634-PRC2A_HUMAN
    Recommended name:
    Protein PRRC2A
    Protein Accession:
    P48634
    Secondary Accessions:
    • B0UX77
    • B0UZE9
    • B0UZL3
    • O95875
    • Q05BK4
    • Q4LE37
    • Q5SQ29
    • Q5SQ30
    • Q5ST84
    • Q5STX6
    • Q5STX7
    • Q68DW9
    • Q6P9P7
    • Q6PIN1
    • Q8MGQ9
    • Q96QC6

    Protein attributes for PRRC2A Gene

    Size:
    2157 amino acids
    Molecular mass:
    228863 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA35585.1; Type=Frameshift; Positions=38, 58; Evidence={ECO:0000305}; Sequence=AAA35586.1; Type=Frameshift; Positions=38, 58; Evidence={ECO:0000305}; Sequence=BAE06116.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA78744.1; Type=Frameshift; Positions=38, 58; Evidence={ECO:0000305};

    Alternative splice isoforms for PRRC2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRRC2A Gene

Post-translational modifications for PRRC2A Gene

No Post-translational modifications

Other Protein References for PRRC2A Gene

No data available for DME Specific Peptides for PRRC2A Gene

Domains & Families for PRRC2A Gene

Gene Families for PRRC2A Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PRRC2A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRRC2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRRC2A: view

No data available for UniProtKB/Swiss-Prot for PRRC2A Gene

Function for PRRC2A Gene

Molecular function for PRRC2A Gene

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

Phenotypes From GWAS Catalog for PRRC2A Gene

Gene Ontology (GO) - Molecular Function for PRRC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 16713569
genes like me logo Genes that share ontologies with PRRC2A: view
genes like me logo Genes that share phenotypes with PRRC2A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRRC2A Gene

Localization for PRRC2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRC2A Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRRC2A gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 3
plasma membrane 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRRC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with PRRC2A: view

Pathways & Interactions for PRRC2A Gene

SuperPathways for PRRC2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRC2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IBA --
genes like me logo Genes that share ontologies with PRRC2A: view

No data available for Pathways by source and SIGNOR curated interactions for PRRC2A Gene

Drugs & Compounds for PRRC2A Gene

(1) Drugs for PRRC2A Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbamazepine Approved, Investigational Pharma 134
genes like me logo Genes that share compounds with PRRC2A: view

Transcripts for PRRC2A Gene

mRNA/cDNA for PRRC2A Gene

(3) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRRC2A Gene

Proline-rich coiled-coil 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRRC2A Gene

No ASD Table

Relevant External Links for PRRC2A Gene

GeneLoc Exon Structure for
PRRC2A
ECgene alternative splicing isoforms for
PRRC2A

Expression for PRRC2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRRC2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRRC2A Gene

This gene is overexpressed in Adrenal (15.3), Bone marrow mesenchymal stem cell (7.6), Urine (6.7), Peripheral blood mononuclear cells (6.6), Cervix (6.4), and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRRC2A Gene



Protein tissue co-expression partners for PRRC2A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRRC2A Gene:

PRRC2A

SOURCE GeneReport for Unigene cluster for PRRC2A Gene:

Hs.436093

mRNA Expression by UniProt/SwissProt for PRRC2A Gene:

P48634-PRC2A_HUMAN
Tissue specificity: Limited to cell-lines of leukemic origin.

Evidence on tissue expression from TISSUES for PRRC2A Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Liver(4.2)
  • Eye(3.4)
  • Lung(3.3)
  • Skin(3.2)
  • Muscle(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with PRRC2A: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRC2A Gene

Orthologs for PRRC2A Gene

This gene was present in the common ancestor of animals.

Orthologs for PRRC2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRRC2A 33 34
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia PRRC2A 33 34
  • 90.11 (n)
dog
(Canis familiaris)
Mammalia PRRC2A 33 34
  • 89.92 (n)
mouse
(Mus musculus)
Mammalia Prrc2a 33 16 34
  • 87.88 (n)
rat
(Rattus norvegicus)
Mammalia Prrc2a 33
  • 87.53 (n)
oppossum
(Monodelphis domestica)
Mammalia PRRC2A 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRC2A 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prrc2a 33
  • 55.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia bat2-prov 33
zebrafish
(Danio rerio)
Actinopterygii prrc2a 34
  • 40 (a)
OneToOne
nfkbil1 33
worm
(Caenorhabditis elegans)
Secernentea F52G3.1 34
  • 19 (a)
OneToMany
Species where no ortholog for PRRC2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRRC2A Gene

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

Paralogs for PRRC2A Gene

Paralogs for PRRC2A Gene

(1) SIMAP similar genes for PRRC2A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PRRC2A Gene

genes like me logo Genes that share paralogs with PRRC2A: view

Variants for PRRC2A Gene

Sequence variations from dbSNP and Humsavar for PRRC2A Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs151148973 A breast cancer sample 31,632,128(+) G/A coding_sequence_variant, missense_variant
rs771808977 A breast cancer sample 31,631,933(+) C/G/T coding_sequence_variant, missense_variant
rs1000514817 -- 31,623,675(+) G/A intron_variant
rs1000695148 -- 31,627,700(+) A/G intron_variant
rs1000774533 -- 31,638,226(+) G/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRRC2A Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv1161370 CNV deletion 26073780
nsv462871 CNV loss 19166990
nsv601942 CNV loss 21841781
nsv830627 CNV loss 17160897

Variation tolerance for PRRC2A Gene

Residual Variation Intolerance Score: 81.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.21; 99.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRRC2A Gene

Human Gene Mutation Database (HGMD)
PRRC2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRRC2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRC2A Gene

Disorders for PRRC2A Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRRC2A Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coronary artery aneurysm
  • coronary aneurysm
spondylolisthesis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PRRC2A

genes like me logo Genes that share disorders with PRRC2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRRC2A Gene

Publications for PRRC2A Gene

  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. (PMID: 2156268) Banerji J … Spies T (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 22 58
  2. Dense Alu clustering and a potential new member of the NF kappa B family within a 90 kilobase HLA class III segment. (PMID: 8499947) Iris FJ … Dausset J (Nature genetics 1993) 2 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Antibodies generated by a novel DNA vaccination identify the MHC class III encoded BAT2 polypeptide. (PMID: 15752841) Schneiders A … Koch N (Vaccine 2005) 3 4 58
  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. (PMID: 14667819) Lehner B … Sanderson CM (Genomics 2004) 3 4 58

Products for PRRC2A Gene

Sources for PRRC2A Gene

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