• 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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)