PRRC2A

Chr 6

proline rich coiled-coil 2A

Also known as: BAT2, D6S51, D6S51E, G2

NCBI Gene: 7916ENSG00000204469UniProt: P48634

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.19
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.19LOEUF
pLI 1.000
Z-score 8.62
OE 0.12 (0.07–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
-0.18Z-score
OE missense 1.01 (0.97–1.06)
1323 obs / 1304.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.12 (0.07–0.19)
0≤0.351.4
Missense OE?1.01 (0.97–1.06)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 13 / 111.0Missense obs/exp: 1323 / 1304.3Syn Z: -0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRRC2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients