AMN |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AMN (HGNC:14604) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- amnion associated transmembrane protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- amnionless
- %HI
- 83.83(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.82(Read more about gnomAD LOEUF score)
- Cytoband
- 14q32.32
- Genomic Coordinates
-
GRCh37/hg19: chr14:103389000-103397179 NCBI Ensembl UCSC GRCh38/hg38: chr14:102922663-102930842 NCBI Ensembl UCSC - MANE Select Transcript
- NM_030943.4 ENST00000299155.10 (Read more about MANE Select)
- Function
- Membrane-bound component of the endocytic receptor formed by AMN and CUBN (PubMed:14576052, PubMed:30523278, PubMed:29402915). Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:14576052, PubMed:29402915). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (PubMed:12590260, PubMed:14576052, PubMed:26040326). Required for normal CUBN-mediated protein transport in the kidney (Probable). {ECO:0000269|PubMed:12590260, ECO:0000269|Pu... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30114
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:
- Imerslund-Grasbeck syndrome type 1 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)