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

Gene ID: 7916, updated on 24-Nov-2020

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
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

Genomic context

See PRRC2A in Genome Data Viewer
Location:
6p21.33
Exon count:
31
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31620715..31637780)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31588450..31605554)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ubiquinol-cytochrome c reductase hinge protein pseudogene 1 Neighboring gene allograft inflammatory factor 1 Neighboring gene small nucleolar RNA, H/ACA box 38 Neighboring gene microRNA 6832 Neighboring gene BAG cochaperone 6 Neighboring gene apolipoprotein M Neighboring gene chromosome 6 open reading frame 47

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A comprehensive family-based replication study of schizophrenia genes.
GeneReviews: Not available
A genome-wide association study of early menopause and the combined impact of identified variants.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Genome-wide association study of atypical psychosis.
GeneReviews: Not available
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
GeneReviews: Not available
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686D09175

Gene Ontology Provided by GOA

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

General protein information

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)

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_004638.4NP_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
    P48634
    UniProtKB/TrEMBL
    A0A1U9X974
    Related
    ENSP00000365201.2, ENST00000376033.3
    Conserved Domains (1) summary
    pfam07001
    Location:1187
    BAT2_N; BAT2 N-terminus
  2. NM_080686.3NP_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
    P48634
    UniProtKB/TrEMBL
    A0A1U9X974
    Related
    ENSP00000365175.4, ENST00000376007.8
    Conserved Domains (1) summary
    pfam07001
    Location:1187
    BAT2_N; BAT2 N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31620715..31637780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011274.1XP_016866763.1  protein PRRC2A isoform X1

    Conserved Domains (1) summary
    pfam07001
    Location:1187
    BAT2_N; BAT2 N-terminus

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3098003..3115058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

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

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

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

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

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

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

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

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

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