The AP1S2 gene homepage

General information
Gene symbol AP1S2
Gene name adaptor-related protein complex 1, sigma 2 subunit
Chromosome X
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_009274.1
Transcript reference NM_003916.3
Associated with diseases ID, Dandy-Walker malformation, mental retardation, basal ganglia disease, seizures (Pettigrew syndrome, MRXS-5), mental retardation, X-linked syndromic, Fried type
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 2
Date created December 09, 2013
Date last updated September 10, 2014
Version AP1S2:140910

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:560
Entrez Gene 8905
PubMed articles AP1S2
OMIM - Gene 300629
OMIM - Diseases Dandy-Walker malformation, mental retardation, basal ganglia disease, seizures (Pettigrew syndrome, MRXS-5)
mental retardation, X-linked syndromic, Fried type
HGMD AP1S2
GeneCards AP1S2
GeneTests AP1S2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00027884 X Manually created transcript (expired, new version available) NM_003916.3 - -


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