• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MAN2B1 (HGNC:6826) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mannosidase alpha class 2B member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MANB
Alias symbols
LAMAN
%HI
76.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.97(Read more about gnomAD LOEUF score)
Cytoband
19p13.13
Genomic Coordinates
GRCh37/hg19: chr19:12757326-12777556 NCBI Ensembl UCSC
GRCh38/hg38: chr19:12646512-12666742 NCBI Ensembl UCSC
MANE Select Transcript
NM_000528.4 ENST00000456935.7 (Read more about MANE Select)
Function
Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27791
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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 Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)