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

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

SHGC-30262 (e-PCR)
- UniSTS:16132

N3_3_4 (e-PCR)
- UniSTS:239181

MARC_5045-5046:996690083:1 (e-PCR)
- UniSTS:269443

SHGC-34407 (e-PCR)
- UniSTS:64167

PMC30645P1 (e-PCR)
- UniSTS:272574

RH67814 (e-PCR)
- UniSTS:86222

MARC_26623-26624:1034086275:1 (e-PCR)
- UniSTS:269044

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	PubMed
located_in membrane	HDA more info	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.