2. Gene
  3. APPL2 - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Gene

APPL2 - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DIP13B

Gene ID: 55198 | Gene type: protein coding

About APPL2

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:105,173,300-105,236,174 (from NCBI)

This gene has 16 transcripts (splice variants), 205 orthologues and 28 paralogues. Ubiquitous expression in colon (RPKM 10.8), small intestine (RPKM 10.3) and 25 other tissues.

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]

APPL2 Products(3)

mRNA Protein Name
NM_001251904.2 NP_001238833.1 DCC-interacting protein 13-beta isoform 2
NM_001251905.2 NP_001238834.1 DCC-interacting protein 13-beta isoform 3
NM_018171.5 NP_060641.2 DCC-interacting protein 13-beta isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
18034774 GOA
enables phosphatidylinositol binding IDA
IDA: Inferred from direct assay
18034774 GOA
enables phosphatidylserine binding IDA
IDA: Inferred from direct assay
18034774 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15016378 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18034774 GOA
enables protein-containing complex binding IPI
IPI: Inferred from physical interaction
15016378 GOA
Biological Process GO Annotation Evidence Reference Source
involved in glucose homeostasis IMP
IMP: Inferred from mutant phenotype
24879834 GOA
involved in negative regulation of D-glucose import IMP
IMP: Inferred from mutant phenotype
24879834 GOA
involved in protein homotetramerization IDA
IDA: Inferred from direct assay
23055524 GOA
involved in protein import into nucleus IDA
IDA: Inferred from direct assay
26583432 GOA
involved in regulation of G1/S transition of mitotic cell cycle IDA
IDA: Inferred from direct assay
15016378 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
26583432 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasmic vesicle IDA
IDA: Inferred from direct assay
18034774 GOA
located in endosome IDA
IDA: Inferred from direct assay
21645192 GOA
located in endosome membrane IDA
IDA: Inferred from direct assay
15016378 GOA
located in membrane IDA
IDA: Inferred from direct assay
18034774 GOA
located in nucleus IDA
IDA: Inferred from direct assay
15016378 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
18034774 GOA
located in vesicle IDA
IDA: Inferred from direct assay
21645192 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APPL2 Protein Structure

PH

PH: PH domain (279 - 374)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (494 - 609)

  • 0
  • 200
  • 400
  • 600
  • 664 a.a.
Protein Preferred Names Protein Names

DCC-interacting protein 13-beta

DIP13 beta

APPL2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra APPL2 Q8NEU8 RAB5C Homo sapiens P51148
Y2H Array
31515488
Intra APPL2 Q8NEU8 SUV39H2 Homo sapiens Q9H5I1-2
Validated Y2H
32296183
Intra APPL2 Q8NEU8 KIFC3 Homo sapiens Q9BVG8-5
Validated Y2H
32296183
Intra APPL2 Q8NEU8 TBC1D1 Homo sapiens Q86TI0
Pull Down
24879834
Intra APPL2 Q8NEU8 TBC1D1 Homo sapiens Q86TI0
Anti Tag CoIP
24879834
Intra APPL2 Q8NEU8 RAB22A Homo sapiens Q9UL26
Y2H Pooling
16189514
Intra APPL2 Q8NEU8 RAB22A Homo sapiens Q9UL26
Validated Y2H
32296183
Intra APPL2 Q8NEU8 RAB22A Homo sapiens Q9UL26
Y2H Prey Pooling
25416956
Intra APPL2 Q8NEU8 CRADD Homo sapiens P78560
Y2H Array
25416956
Intra APPL2 Q8NEU8 SUV39H2 Homo sapiens Q9H5I1
Y2H
23455924
Intra APPL2 Q8NEU8 SUV39H2 Homo sapiens Q9H5I1
Y2H Array
31515488
Intra APPL2 Q8NEU8 SUV39H2 Homo sapiens Q9H5I1
Y2H Prey Pooling
25416956
Intra APPL2 Q8NEU8 MAPRE3 Homo sapiens Q9UPY8
Validated Y2H
25814554
Intra APPL2 Q8NEU8 MAPRE3 Homo sapiens Q9UPY8
Lumier
25814554
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Anti Tag CoIP
33961781
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Anti Tag CoIP
24879834
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Anti Tag CoIP
28514442
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Validated Y2H
32296183
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Y2H Prey Pooling
25416956
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
MAPPIT
25416956
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Y2H Fragment Pooling
23414517
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
Y2H Array
31515488
Intra APPL2 Q8NEU8 APPL1 Homo sapiens Q9UKG1
IF
15016378
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome

22q13.3 Deletion Syndrome

Telomeric 22q13 Monosomy Syndrome

PHMDS

Deletion 22q13 Syndrome

22q13.3 Deletion

Deletion 22q13.3 Syndrome

Monosomy 22q13

Monosomy 22q13.3

22q13 Deletion Syndrome

Monosomy 22q13 Syndrome

22q13 Deletion

Chromosome Deletion
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00868 APPL2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris APPL2 VGNC VGNC:38013
Macaca mulatta APPL2 VGNC VGNC:69861
Rattus norvegicus APPL2 RGD RGD:1563028
Felis catus APPL2 VGNC VGNC:59857
Mus musculus APPL2 MGD MGI:2384914
Bos taurus APPL2 VGNC VGNC:26041
Others APPL2 NCBI