Gene Name	APPL2
Gene ID	55198
Gene Full Name	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Gene Alias	DIP13B
Transcripts	ENSG00000136044
Virus	HBV
Gene Type	protein-coding
HPA Location Info	Vesicles;Cytosol;
Membrane Info	Disease related genes, Predicted intracellular proteins
Uniport_ID	Q8NEU8
HGNC ID	HGNC:18242
OMIM ID	606231
Summary	The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
1014123	chr12	4	0	0	4	View

Data ID	Experiment type	Sample number	Platform
GSE236281	RNA-seq	12	Illumina MiSeq (Homo sapiens)
C   GSE35465	Chip-seq;RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
C   GSE68402	Chip-seq	26	Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens)
GSE247322	scRNA-seq	27	Illumina NovaSeq 6000 (Homo sapiens)
TCGA_LIHC_HBV	DNA methylation sequencing;RNA-seq	97	TCGA
C   GSE270130	Chip-seq	27	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE64877	Chip-seq	2	Illumina Genome Analyzer (Homo sapiens)
GSE224901	RNA-seq	21	Illumina NovaSeq 6000 (Homo sapiens)
GSE100400	Chip-seq;RNA-seq;4C_cccDNA	31	Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus)
GSE173897	RNA-seq	95	Illumina HiSeq 4000 (Homo sapiens)
GSE262515	RNA-seq	21	Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus)
GSE110345	RNA-seq	4	Illumina HiSeq 2500 (Homo sapiens)
C   GSE131257	ATAC-seq;RNA-seq	19	Illumina HiSeq 2500 (Homo sapiens)
E   GSE94660	RNA-seq	42	Illumina HiSeq 2500 (Homo sapiens)

• Expression profiling
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.

> Dataset: GSE94660 - APPL2 expression across samples

Volcano Plot

Bar Plot