Information on PDCD1
Alt. symbols: SLEB2 | CD279 | PD1 | hSLE1 | PD-1
Approved name: programmed cell death 1
Alt. names: systemic lupus erythematosus susceptibility 2
Location: 2q37.3: 241849884 - 241858894 (-)
Gene type: protein_coding, 5 transcripts.
Scores: LoFtool: 0.458000 | pLI: 0.01795405 | LOEUF: 0.662
Gene Ontology (GO)
- Molecular function:
- Cell component: external side of plasma membrane [GO:0009897]
- Biological process: positive regulation of T cell apoptotic process [GO:0070234]; regulation of immune response [GO:0050776]
Normal function
Dysfunction and disease
{Systemic lupus erythematosus, susceptibility to, 2} [MIM:605218] | {Multiple sclerosis, disease progression, modifier of} [MIM:126200]. PDCD1 has only been associated with Subacute sclerosing panencephalitis (incr. Suscept. Ishizaki Hum Genet 2010 127, 411) and with Systemic lupus erythematosus (Prokunina Nat Genet 2002 32, 666) and it is momentarily a candidate gene for mendelian immune mediated diseases in humans. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
AIEOTB |
Autoimmunity and early-onset tuberculosis | AR |
621004 |
0 (0 fams) | |
| SLES2 |
Susceptibility to Systemic lupus erythematosus 2 | AD |
605218 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of PDCD1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000334409.10 | CCDS33428 | Select | protein_coding | 5 | Yes | 2097 | NM_005018 | |
| 205 | ENST00000718474.1 | nonsense_mediated_decay | No | XM_006712573 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 PDCD1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|