CD276

Chr 15

CD276 molecule

Also known as: 4Ig-B7-H3, B7-H3, B7H3, B7RP-2

NCBI Gene: 80381 ENSG00000103855 UniProt: Q5ZPR3

The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Research

ResearchGenerating clinical summary…

Active trials

215

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.15

LOEUF

GOF

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

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.15LOEUF

pLI 0.000

Z-score 1.04

OE 0.76 (0.51–1.15)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.05Z-score

OE missense 0.99 (0.91–1.09)

342 obs / 344.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.76 (0.51–1.15)

0≤0.351.4

Missense OE?0.99 (0.91–1.09)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 16 / 21.2Missense obs/exp: 342 / 344.5Syn Z: -1.79

Background carrier burden — how many people carry a rare variant somewhere in CD276?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

719 rare PASS variants

Rare truncating (LoF)

1 in 520

102 rare PASS variants

Rare synonymous (reference)

1 in 99

303 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CD276. 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 100	1 in 630
South Asian	~43k	1 in 47	1 in 290
Remaining (unassigned)	~30k	1 in 50	1 in 660
European (Finnish)	~27k	1 in 190	≈ 1 in 27,000
Admixed American	~22k	1 in 68	1 in 420
African / African American	~21k	1 in 55	1 in 530
East Asian	~20k	1 in 57	1 in 390
Ashkenazi Jewish	~13k	1 in 820	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 55	none seen

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 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓