Information on CD3G
Basic details
Alt. symbols: CD3GAMMA | IMD17 | T3G
Approved name: CD3 gamma subunit of T-cell receptor complex
Alt. names: CD3g antigen, gamma polypeptide (TiT3 complex), CD3g molecule, gamma (CD3-TCR complex)
Location: 11q23.3: 118344344 - 118355161 (+)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.823000 | pLI: 0.02503053 | LOEUF: 1.219
Normal function
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 couples antigen recognition to intracellular signal-transduction pathways. In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in this molecule.
Dysfunction and disease
CD3G mutations alone lead to a relatively mild form of immunodeficiency characterized by a varying degree of susceptibility to infection and the frequent occurrence of autoimmune disorders (Immunodeficiency 17, CD3 gamma deficient [MIM:615607]): [Load More]
[Reviewed by Michele Proietti on 2020-06-19 12:56:45]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD17 |
Immunodeficiency 17 | AR |
615607 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CD3G
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 206 | ENST00000532917.3 | 1 | CCDS8395 | Select | protein_coding | 7 | Yes | 2690 | NM_000073 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CD3G
| ID | Year | Title | Journal | PMID | Variants |
|---|