CSRNP2

Chr 12

cysteine and serine rich nuclear protein 2

Also known as: C12ORF2, C12orf22, FAM130A1, PPP1R72, TAIP-12

NCBI Gene: 81566 ENSG00000110925 UniProt: Q9H175

The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CSRNP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 92

525 rare PASS variants

Rare truncating (LoF)

1 in 7,200

42 rare PASS variants

Rare synonymous (reference)

1 in 260

264 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CSRNP2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 150	1 in 8,600
South Asian	~43k	1 in 130	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 82	≈ 1 in 9,900
European (Finnish)	~27k	1 in 520	≈ 1 in 8,900
Admixed American	~22k	1 in 92	≈ 1 in 11,000
African / African American	~21k	1 in 120	≈ 1 in 4,900
East Asian	~20k	1 in 130	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 320	≈ 1 in 12,000
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓