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
Exon/intron information NM_003916.3 exon/intron table
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) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 17
Individuals with public variants 50
Hidden variants 0
Notes The work leading to the establishment of this LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The AP1S2 gene sequence variant database was initiated in conjunction with the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated October 24, 2015
Version AP1S2:151024

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003916.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/AP1S2
External URL Orphanet
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     
00000584 X adaptor-related protein complex 1, sigma 2 subunit NM_003916.3 NP_003907.3 22


Copyright & disclaimer
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