Information on CD3D
Basic details
Alt. symbols: T3D
Approved name: CD3 delta subunit of T-cell receptor complex
Alt. names: CD3d antigen, delta polypeptide (TiT3 complex), CD3d molecule, delta (CD3-TCR complex)
Location: 11q23.3: 118334537 - 118342705 (-)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.953000 | pLI: 0.00662795 | LOEUF: 1.458
Normal function
Dysfunction and disease
Immunodeficiency 19 [MIM:615617] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCID4 |
Immunodeficiency 19 | AR |
615617 |
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 CD3D
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000392884.3 | CCDS41724 | protein_coding | 4 | No | 476 | NM_001040651 | ||
| 201 | ENST00000300692.9 | 1 | CCDS8394 | Select | protein_coding | 5 | Yes | 701 | NM_000732 |
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 CD3D
| ID | Year | Title | Journal | PMID | Variants |
|---|