APPL2

GENE INFORMATION

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Gene name

APPL2 (HGNC Symbol)

Synonyms

DIP13B, FLJ10659

Description

Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

12

Cytoband

q23.3

Chromosome location (bp)

105173296 - 105236238

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136044 (version 78.38)

Entrez gene

55198

UniProt

Q8NEU8 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NEU8

Antibodypedia

APPL2 antibodies
 

PROTEIN VIEW

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APPL2-001
 
APPL2-002
 
APPL2-004
 
APPL2-006
 
APPL2-007
 
APPL2-013
 
APPL2-016
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

APPL2-001 ENSP00000258530
ENST00000258530
Q8NEU8
Show all »
Show » Show » 664 74.5 No 0
APPL2-002 ENSP00000444472
ENST00000539978
Q8NEU8
Show all »
Show » Show » 621 69.7 No 0
APPL2-004 ENSP00000446917
ENST00000551662
Q8NEU8
Show all »
Show » Show » 670 75.2 No 0
APPL2-006 ENSP00000449767
ENST00000553097
F8VWV2
Show all »
Show » 144 16.3 No 0
APPL2-007 ENSP00000447520
ENST00000549056
F8W124
Show all »
Show » 61 7 No 0
APPL2-013 ENSP00000446510
ENST00000553109
H0YH86
Show all »
Show » Show » 188 21.2 No 0
APPL2-016 ENSP00000447828
ENST00000546731
F8VS86
Show all »
Show » 107 11.7 No 0