MAN2B1 |
- 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
- 0.9(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
ClinGen Curation ID:
CCID:007430
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:
- alpha-mannosidosis Monarch
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)