Information on CD59
Basic details
Alt. symbols: MIC11 | MIN1 | MSK21 | MIN2 | MIN3 | 16.3A5 | EJ16 | EJ30 | EL32 | G344 | p18-20
Approved name: CD59 molecule (CD59 blood group)
Alt. names: CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344), CD59 antigen, complement regulatory protein, CD59 molecule, complement regulatory protein, CD59 molecule
Location: 11p13: 33703010 - 33736479 (-)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.436000 | pLI: 0.06838092 | LOEUF: 1.004
Normal function
Dysfunction and disease
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy [MIM:612300] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
0284 |
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
612300 |
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 CD59
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 214 | ENST00000651785.1 | 1 | CCDS7886 | protein_coding | 6 | No | 7724 | NM_203329,NM_203330,NM_203331 | |
| 205 | ENST00000437761.6 | CCDS7886 | protein_coding | No | 758 | NM_001127225 | |||
| 216 | ENST00000652678.1 | CCDS7886 | protein_coding | No | 7555 | NM_001127227 | |||
| 211 | ENST00000642928.2 | CCDS7886 | Select | protein_coding | Yes | 7563 | NM_000611 | ||
| 203 | ENST00000415002.7 | CCDS7886 | protein_coding | No | 1143 | NM_001127223 | |||
| 206 | ENST00000445143.6 | CCDS7886 | protein_coding | No | 825 | NM_001127226 |
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 CD59
| ID | Year | Title | Journal | PMID | Variants |
|---|