CD59 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CD59 (HGNC:1689) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CD59 molecule (CD59 blood group)
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MIC11, MIN1, MSK21, MIN2, MIN3, MIRL, MACIF, HRF20
- Alias symbols
- 16.3A5, EJ16, EJ30, EL32, G344, p18-20
- %HI
- 97.5(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.61(Read more about gnomAD pLI score)
- LOEUF
- 1(Read more about gnomAD LOEUF score)
- Cytoband
- 11p13
- Genomic Coordinates
-
GRCh37/hg19: chr11:33724556-33758025 NCBI Ensembl UCSC GRCh38/hg38: chr11:33703010-33736479 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000611.6 ENST00000642928.2 (Read more about MANE Select)
- Function
- Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase. The soluble form from urine retains its specific complement binding activity, but exhibits greatly... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22396
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- primary CD59 deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)