CD3G

Chr 11AR

CD3 gamma subunit of T-cell receptor complex

Also known as: CD3-GAMMA, CD3GAMMA, IMD17, T3G

NCBI Gene: 917 ENSG00000160654 UniProt: P09693 OMIM: 186740

The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 17, CD3 gamma deficientMIM #615607

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · combined immunodeficiency due to CD3gamma deficiency · AR · ClinGen 2021

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.22

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 1.00

OE 0.70 (0.42–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.08Z-score

OE missense 0.98 (0.82–1.17)

89 obs / 91.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.70 (0.42–1.22)

0≤0.351.4

Missense OE?0.98 (0.82–1.17)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 9 / 12.9Missense obs/exp: 89 / 91.1Syn Z: 0.18

Background carrier burden — how many people carry a rare variant somewhere in CD3G?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 350

222 rare PASS variants

Rare truncating (LoF)

1 in 1,300

45 rare PASS variants

Rare synonymous (reference)

1 in 1,200

76 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CD3G; this gene does not show strong loss-of-function constraint by this measure. 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 530	1 in 1,700
South Asian	~43k	1 in 330	1 in 380
Remaining (unassigned)	~30k	1 in 220	1 in 1,100
European (Finnish)	~27k	1 in 360	1 in 1,300
Admixed American	~22k	1 in 210	1 in 2,000
African / African American	~21k	1 in 200	1 in 3,400
East Asian	~20k	1 in 390	1 in 730
Ashkenazi Jewish	~13k	1 in 930	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 220	≈ 1 in 720

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