Information on CD247
Basic details
Alt. symbols: CD3Z | CD3H | CD3Q
Approved name: CD247 molecule
Alt. names: CD3z antigen, zeta polypeptide (TiT3 complex), CD247 antigen | T-cell surface glycoprotein CD3 zeta chain
Location: 1q24.2: 167425027 - 167518640 (-)
Gene type: protein_coding, 40 transcripts.
Scores: LoFtool: 0.130000 | pLI: 0.66138297 | LOEUF: 0.824
Normal function
Dysfunction and disease
?Immunodeficiency 25 [MIM:610163] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCID6 |
Immunodeficiency due to defect in CD3-Zeta | AR |
610163 |
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 CD247
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000392122.4 | CCDS1260 | protein_coding | 8 | No | 1678 | NM_000734,NM_001378516 | ||
| 201 | ENST00000362089.10 | 1 | CCDS1261 | Select | protein_coding | 8 | Yes | 1600 | NM_001378515,NM_198053 |
| 209 | ENST00000700106.1 | protein_coding | No | XM_011510144 | |||||
| 210 | ENST00000700107.1 | protein_coding | No | XM_011510145 |
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 | - | |
| 2006 | Mosaicism | 16672702 | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | 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 CD247
| ID | Year | Title | Journal | PMID | Variants |
|---|