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

Gene ID: 7916, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31620715..31637771)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31473736..31490814)
105.20220307 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
  • 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. 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
  2. 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
  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. 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
  5. HLA class III region and susceptibility to rheumatoid arthritis. Singal DP, et al. Clin Exp Rheumatol, 2000 Jul-Aug. PMID 10949724

See all (159) 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_2023_10

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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