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    PRRC2A proline rich coiled-coil 2A [ Homo sapiens (human) ]

    Gene ID: 7916, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRRC2Aprovided by HGNC
    Official Full Name
    proline rich coiled-coil 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:13918
    See related
    Ensembl:ENSG00000204469 MIM:142580; AllianceGenome:HGNC:13918
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G2; BAT2; D6S51; D6S51E
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 81.0), ovary (RPKM 32.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRRC2A in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31620715..31637771)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31473736..31490814)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31588492..31605548)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31583276-31583776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31583777-31584277 Neighboring gene allograft inflammatory factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31591608-31592555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:31592556-31593502 Neighboring gene small nucleolar RNA, H/ACA box 38 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31602456-31602619 Neighboring gene microRNA 6832 Neighboring gene BAG cochaperone 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31619307-31619886 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31619887-31620466 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31620467-31621046 Neighboring gene apolipoprotein M Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31627653-31628190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31628191-31628727 Neighboring gene chromosome 6 open reading frame 47

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population. Zhang J, et al. J Neurol, 2021 Feb. PMID 32862241
    2. Antibodies generated by a novel DNA vaccination identify the MHC class III encoded BAT2 polypeptide. Schneiders A, et al. Vaccine, 2005 Mar 31. PMID 15752841
    3. A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility. Diakite M, et al. Hum Genet, 2009 Feb. PMID 19039607, Free PMC Article
    4. The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis. Tan X, et al. Nat Commun, 2023 Mar 24. PMID 36964127, Free PMC Article
    5. HLA class III region and susceptibility to rheumatoid arthritis. Singal DP, et al. Clin Exp Rheumatol, 2000 Jul-Aug. PMID 10949724

    See all (179) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis.
      Title: The m6A reader PRRC2A is essential for meiosis I completion during spermatogenesis.
    2. Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.
      Title: Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.
    3. The BAT2/BAT3 polymorphisms and specifically the A/C haplotype may represent a novel immunogenetic factor associated with graft rejection in patients undergoing allo-HSCT.
      Title: BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT.
    4. Data show the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants of SEC16B rs10913469, SH2B1 rs4788102, PCSK1 rs6235, KCTD15 rs29941 and BAT2 rs2844479.
      Title: Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.
    5. Single nucleotide polymorphisms at C6orf48, BAT2 and ZBTB12 are associated with estrogen receptor positive breast cancer in the Chinese Han population.
      Title: Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population.
    6. Single-nucleotide polymorphism in the BAT2 gene is associated with lung cancer susceptibility.
      Title: Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans.
    7. Data indicate that BCL2L11 rs3789068 was associated with an increased risk for B-cell non-Hodgkin lymphoma (NHL), and PRRC2A rs3132453 conferred a reduced risk of B-cell NHL.
      Title: PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium.
    8. Results suggest BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 SNPs as well as BAT haplotypes (ATTGTG and ATCATG) might be associated with higher Kawasaki disease susceptibility and coronary artery aneurysm formation.
      Title: Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.
    9. BAT2, MC4R, FTO, Sec16B, SH2B1 genes are associated with genetic susceptibility to obesity in Chinese women.
      Title: Evaluation of genetic susceptibility loci for obesity in Chinese women.
    10. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Host determinants of HIV-1 control in African Americans.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    EBI GWAS Catalog
    A genome-wide association study of early menopause and the combined impact of identified variants.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study of atypical psychosis.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated proline-rich coiled-coil 2A protein (PRRC2A) is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686D09175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein PRRC2A
    Names
    HLA-B-associated transcript 2
    large proline-rich protein BAT2
    proline-rich and coiled-coil-containing protein 2A
    protein G2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004638.4 → NP_004629.3  protein PRRC2A

      See identical proteins and their annotated locations for NP_004629.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AA969275, AI989927, AL662801, BC042295, BC060668, DC345271
      Consensus CDS
      CCDS4708.1
      UniProtKB/Swiss-Prot
      B0UX77, B0UZE9, B0UZL3, O95875, P48634, Q05BK4, Q4LE37, Q5SQ29, Q5SQ30, Q5ST84, Q5STX6, Q5STX7, Q68DW9, Q6P9P7, Q6PIN1, Q8MGQ9, Q96QC6
      UniProtKB/TrEMBL
      A0A1U9X974, A0A1U9X977
      Related
      ENSP00000365201.2, ENST00000376033.3
      Conserved Domains (1) summary
      pfam07001
      Location:1 → 187
      BAT2_N; BAT2 N-terminus

    2. NM_080686.3 → NP_542417.2  protein PRRC2A

      See identical proteins and their annotated locations for NP_542417.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AI383939, BC030127, BC060668, BG423867, BM555411, BU684558, BX474290, DC345271
      Consensus CDS
      CCDS4708.1
      UniProtKB/Swiss-Prot
      B0UX77, B0UZE9, B0UZL3, O95875, P48634, Q05BK4, Q4LE37, Q5SQ29, Q5SQ30, Q5ST84, Q5STX6, Q5STX7, Q68DW9, Q6P9P7, Q6PIN1, Q8MGQ9, Q96QC6
      UniProtKB/TrEMBL
      A0A1U9X974, A0A1U9X977
      Related
      ENSP00000365175.4, ENST00000376007.8
      Conserved Domains (1) summary
      pfam07001
      Location:1 → 187
      BAT2_N; BAT2 N-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31620715..31637771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419336.1 → XP_047275292.1  protein PRRC2A isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3097977..3115058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329882.1 → XP_054185857.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X9A9

    2. XM_054329884.1 → XP_054185859.1  protein PRRC2A isoform X2

    3. XM_054329885.1 → XP_054185860.1  protein PRRC2A isoform X1

    4. XM_054329883.1 → XP_054185858.1  protein PRRC2A isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2868479..2885535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330375.1 → XP_054186350.1  protein PRRC2A isoform X4

    2. XM_054330376.1 → XP_054186351.1  protein PRRC2A isoform X1

    3. XM_054330374.1 → XP_054186349.1  protein PRRC2A isoform X4

    4. XM_054330373.1 → XP_054186348.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X998

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2925756..2942812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330656.1 → XP_054186631.1  protein PRRC2A isoform X1

    2. XM_054330654.1 → XP_054186629.1  protein PRRC2A isoform X5

    3. XM_054330655.1 → XP_054186630.1  protein PRRC2A isoform X1

    4. XM_054330653.1 → XP_054186628.1  protein PRRC2A isoform X5

    5. XM_054330652.1 → XP_054186627.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X999

    6. XM_054330657.1 → XP_054186632.1  protein PRRC2A isoform X6

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      2962597..2979651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330865.1 → XP_054186840.1  protein PRRC2A isoform X7

    2. XM_054330864.1 → XP_054186839.1  protein PRRC2A isoform X7

    3. XM_054330863.1 → XP_054186838.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X985

    4. XM_054330866.1 → XP_054186841.1  protein PRRC2A isoform X7

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2876537..2893589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331153.1 → XP_054187128.1  protein PRRC2A isoform X1

    2. XM_054331151.1 → XP_054187126.1  protein PRRC2A isoform X8

    3. XM_054331152.1 → XP_054187127.1  protein PRRC2A isoform X1

    4. XM_054331150.1 → XP_054187125.1  protein PRRC2A isoform X8

    5. XM_054331149.1 → XP_054187124.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X9A9

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2919997..2937052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331392.1 → XP_054187367.1  protein PRRC2A isoform X1

    2. XM_054331390.1 → XP_054187365.1  protein PRRC2A isoform X9

    3. XM_054331391.1 → XP_054187366.1  protein PRRC2A isoform X1

    4. XM_054331389.1 → XP_054187364.1  protein PRRC2A isoform X9

    5. XM_054331388.1 → XP_054187363.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X9A9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31473736..31490814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356380.1 → XP_054212355.1  protein PRRC2A isoform X3

      UniProtKB/TrEMBL
      A0A1U9X985

    2. XM_054356385.1 → XP_054212360.1  protein PRRC2A isoform X1

    3. XM_054356382.1 → XP_054212357.1  protein PRRC2A isoform X10

    4. XM_054356384.1 → XP_054212359.1  protein PRRC2A isoform X1

    5. XM_054356381.1 → XP_054212356.1  protein PRRC2A isoform X10

    6. XM_054356383.1 → XP_054212358.1  protein PRRC2A isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48634.3 GenPept UniProtKB/Swiss-Prot:P48634

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