Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55198
Gene name Gene Name - the full gene name approved by the HGNC.
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APPL2
Synonyms (NCBI Gene) Gene synonyms aliases
DIP13B
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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,
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019898 hsa-miR-375 Microarray 20215506
MIRT022951 hsa-miR-124-3p Microarray 18668037
MIRT791293 hsa-miR-1182 CLIP-seq
MIRT791294 hsa-miR-1206 CLIP-seq
MIRT791295 hsa-miR-149 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle ISS
GO:0001786 Function Phosphatidylserine binding IDA 18034774
GO:0002024 Process Diet induced thermogenesis ISS
GO:0005515 Function Protein binding IPI 15016378, 16189514, 17030088, 18034774, 19433865, 21645192, 23055524, 23414517, 23455924, 24879834, 25416956, 25814554, 28514442, 31515488, 32296183
GO:0005634 Component Nucleus IDA 15016378, 18034774
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606231 18242 ENSG00000136044
Protein
UniProt ID Q8NEU8
Protein name DCC-interacting protein 13-beta (Dip13-beta) (Adapter protein containing PH domain, PTB domain and leucine zipper motif 2)
Protein function Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:15016378,
PDB 4H8S , 5C5B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3 7 247 Domain
PF00169 PH 278 375 PH domain Domain
PF00640 PID 494 613 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: High levels in brain, heart, kidney and skeletal muscle. {ECO:0000269|PubMed:11431708}.
Sequence
Sequence length 664
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 26583432
Fatty Liver Associate 23977033
Glucose Intolerance Associate 22462604
Non alcoholic Fatty Liver Disease Associate 23977033
Obesity Associate 22462604
Overweight Associate 22462604
Pancreatic Neoplasms Associate 24763056
Prostatic Neoplasms Associate 30397274