Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APPL2 Gene

protein-coding GIFtS: 51
GCID: GC12M105568

adaptor protein, phosphotyrosine interaction, PH domain...

Explore 1 disease affiliated with
APPL2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Adaptor Protein, Phosphotyrosine Interaction, PH Domain And Leucine Zipper Containing 2¹ ²		DCC-Interacting Protein 13-Beta²
DIP13B¹ ² ³		DIP13 Beta²
Adapter Protein Containing PH Domain, PTB Domain And Leucine Zipper Motif 2² ³		Dip13-Beta¹
FLJ10659¹ ⁵

External Ids:	HGNC: 18242¹	Entrez Gene: 55198²	Ensembl: ENSG00000136044⁷	OMIM: 606231⁵	UniProtKB: Q8NEU8³

Export aliases for APPL2 gene to outside databases

Previous GC identifers: GC12M104091 GC12M102626

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APPL2:

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)

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8

Function: Required for the regulation of cell proliferation in response to extracellular signals mediated by an early

endosomal compartment. Links Rab5 to nuclear signal transduction

Gene Wiki entry for APPL2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APPL2 gene promoter:
Elk-1 Pax-5 p300 AP-4 RelA NF-kappaB AREB6 NRF-2 COMP1 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: APPL2 promoter sequence

Search SABiosciences Chromatin IP Primers for APPL2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APPL2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.1 Ensembl cytogenetic band: 12q23.3 HGNC cytogenetic band: 12q24.1

APPL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APPL2 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M105568: view genomic region (about GC identifiers)

Start:	105,567,074 bp from pter	End:	105,630,016 bp from pter
Size:	62,943 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8 (See protein sequence)

Recommended Name: DCC-interacting protein 13-beta

Size: 664 amino acids; 74493 Da

Subunit: Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal

membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex

Subcellular location: Early endosome membrane; Peripheral membrane protein. Nucleus. Note=Early endosomal

membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following

internalization of EGF

1 PDB 3D structure from and Proteopedia for APPL2:

4H8S (3D)

Secondary accessions: B7Z411 B7Z4B0 F5GZG0 F8W1P5 Q8N4R7 Q9NVL2

Alternative splicing: 3 isoforms: Q8NEU8-1 Q8NEU8-2 Q8NEU8-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APPL2: NX_Q8NEU8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NEU8

APPL2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001238833.1 NP_001238834.1 NP_060641.2

ENSEMBL proteins:

ENSP00000258530 ENSP00000449410 ENSP00000444472 ENSP00000447828 ENSP00000446917

ENSP00000446510 ENSP00000448569 ENSP00000449767 ENSP00000447520

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: APPL2 OriGene Protein Over-expression Lysate: APPL2 OriGene Custom Protein Services for APPL2
	GenScript Custom Purified and Recombinant Proteins Services for APPL2
	Novus Biologicals APPL2 Proteins Novus Biologicals APPL2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APPL2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	15016378
GO:0005737	cytoplasm	IC	15016378
GO:0010008	endosome membrane	IDA	15016378
GO:0016581	colocalizes with NuRD complex	IDA	15016378
GO:0031901	early endosome membrane	IEA	--

APPL2 for ontologies About GeneDecksing

APPL2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for APPL2
	GenScript Custom Superior Antibodies Services for APPL2
	Novus Biologicals APPL2 Antibodies
	Search for Antibodies for APPL2 at Abcam
	Uscn Antibodies for APPL2
	Search ThermoFisher Antibodies for APPL2

Assay Products for APPL2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for APPL2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APPL2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APPL2 for domains About GeneDecksing

3 InterPro domains/families:

IPR006020 PTyr_interaction_dom

IPR001849 Pleckstrin_homology

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q8NEU8

ProtoNet protein and cluster: Q8NEU8

2 Blocks protein families:

IPB001849 Pleckstrin-like

IPB006020 Phosphotyrosine interaction domain

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8

Similarity: Contains 1 PH domain

Similarity: Contains 1 PID domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8

Function: Required for the regulation of cell proliferation in response to extracellular signals mediated by an early

endosomal compartment. Links Rab5 to nuclear signal transduction

miRNA Products:		OriGene 3'-UTR Clone: APPL2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APPL2
		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate APPL2 (see all 25):
		hsa-miR-320a hsa-miR-137 hsa-miR-520d-5p hsa-miR-219-5p hsa-miR-340 hsa-miR-133a hsa-miR-149 hsa-miR-558

		SwitchGear 3'UTR luciferase reporter plasmid: APPL2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APPL2 (see all 7) OriGene shRNA RFP: APPL2 OriGene siRNA: APPL2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APPL2

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for APPL2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: APPL2 (NM_018171)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APPL2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for APPL2
		Search LifeMap BioReagents cell lines for APPL2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL2

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17030088
GO:0005543	phospholipid binding	IEA	--

APPL2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for APPL2:

Decreased viability of wild-ty

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

EGFR1 Signaling Pathway

EGFR1 Signaling Pathway

1.00

1 BioSystems Pathway for APPL2

EGFR1 Signaling Pathway

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for APPL2

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/12 Interacting proteins for APPL2 (Q8NEU8^{2, 3} ENSP00000258530⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APPL1	Q9UKG1²^,³, ENSP00000288266⁴	MINT-66149 I2D: score=6 STRING: ENSP00000288266
RAB22A	Q9UL26²^,³, ENSP00000244040⁴	MINT-67006 I2D: score=5 STRING: ENSP00000244040
MTA2	O94776³, ENSP00000278823⁴	I2D: score=3 STRING: ENSP00000278823
RUVBL2	Q9Y230³, ENSP00000221413⁴	I2D: score=1 STRING: ENSP00000221413
RAB5A	P20339³, ENSP00000273047⁴	I2D: score=2 STRING: ENSP00000273047

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007049	cell cycle	IEA	--
GO:0007165	signal transduction	TAS	15016378
GO:0008283	cell proliferation	IDA	15016378

APPL2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for APPL2
Search CenterWatch for drugs/clinical trials and news about APPL2 / DP13B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for APPL2 gene (3 alternative transcripts):

NM_001251904.1 NM_001251905.1 NM_018171.3

Unigene Cluster for APPL2:

Adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

Hs.506603 [show with all ESTs]

Unigene Representative Sequence: BX649010

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000258530(uc010swt.2 uc010swu.1 uc001tlf.1 uc001tlg.1)

ENST00000547439 ENST00000539978(uc009zuq.3) ENST00000547790 ENST00000546731

ENST00000551662 ENST00000553109 ENST00000548425 ENST00000547809 ENST00000552945

ENST00000549573 ENST00000549974 ENST00000550648 ENST00000546768 ENST00000553097

ENST00000549056

miRNA Products:		OriGene 3'-UTR Clone: APPL2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APPL2
		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate APPL2 (see all 25):
		hsa-miR-320a hsa-miR-137 hsa-miR-520d-5p hsa-miR-219-5p hsa-miR-340 hsa-miR-133a hsa-miR-149 hsa-miR-558

		SwitchGear 3'UTR luciferase reporter plasmid: APPL2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APPL2 (see all 7) OriGene shRNA RFP: APPL2 OriGene siRNA: APPL2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APPL2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: APPL2 (NM_018171)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APPL2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APPL2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat APPL2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APPL2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APPL2

Additional cDNA sequence:

AK001521.2 AK290562.1 AK293783.1 AK296610.1 AK297100.1 AK310377.1 AY113704.1 BC028008.1

BC033731.1 BX649010.1

12 DOTS entries:

DT.317130 DT.100643630 DT.414912 DT.100785938 DT.86837665 DT.121114340 DT.121114357 DT.95373084

DT.100785937 DT.426748 DT.92451418 DT.99967045

24/187 AceView cDNA sequences (see all 187):

AW848791 CD245274 BQ771962 AL533329 BM712089 N59312 AI275114 BX503864

BG036336 CB144094 AI972901 AA480302 AW794409 AW848231 AA804422 AA502319

BI826139 N76838 W33014 C00808 BM983349 BI459633 AI688395 BI461671

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

APPL2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCTTGGTA

About this image

APPL2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Brain

Brain

Limb

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

See APPL2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for APPL2

SOURCE GeneReport for Unigene cluster: Hs.506603

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8

Tissue specificity: High levels in brain, heart, kidney and skeletal muscle

SABiosciences Custom PCR Arrays for APPL2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APPL2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat APPL2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APPL2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APPL2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for APPL2 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Appl2^{1 , 5}	adaptor protein, phosphotyrosine interaction, PH domain more^{1, 5}	87.92(n)¹ 92.75(a)¹		10 (41.29 cM)⁵ 216190¹ NM_145220.2¹ NP_660255.1¹ 83600033⁵
chicken (Gallus gallus)	Aves	APPL2¹	adaptor protein, phosphotyrosine interaction, PH domain more	77.15(n) 84.35(a)		418075 XM_416311.3 XP_416311.2
lizard (Anolis carolinensis)	Reptilia	APPL2⁶	--	82(a)	1 ↔ 1	5(18798814-18831249)
zebrafish (Danio rerio)	Actinopterygii	appl2¹	adaptor protein, phosphotyrosine interaction, PH domain more	66.72(n) 70.84(a)		100000135 NM_001128075.1 NP_001121547.1

ENSEMBL Gene Tree for APPL2 (if available)
TreeFam Gene Tree for APPL2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for APPL2 gene

APPL1²

1 SIMAP similar gene for APPL2 using alignment to 7 protein entries: DP13B_HUMAN (see all proteins):

APPL1

APPL2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74785544^1,2	F,	--	102626105(+)	`CAAATT/CTGTAA`	3	--	ds500¹		1		NA	120
rs58374815^1,2		--	102626250(+)	`TTATCC/TACCAT`	3	--	ds500¹		0	--	--	--	--
rs113912466^1,2	C	--	102626447(+)	`CACATG/CTAACG`	3	--	ds500¹		1		CSA	1
rs60585141^1,2	C	--	102626507(+)	`TAATA-/ATAGTCTG`	3	--	ut3¹		0	--	--	--	--
rs2272493^1,2	C,F,H	--	102626630(+)	`TGGAAA/GTAGGA`	3	--	ut3¹		7		EA NS NA	1898
rs77173345^1,2	C,	--	102626824(+)	`GTAAGG/CCTCCA`	3	--	ut3¹		2		NA	122
rs77220426^1,2	C,F,	--	102627028(+)	`AGAACG/AACAGG`	3	--	ut3¹		1		EA	120
rs77857506^1,2	F,	--	102627261(+)	`AAGCAC/TCTAAA`	3	--	ut3¹		1		WA	118
rs74952164^1,2	C,F,	--	102627360(+)	`CAAACG/AATTGT`	3	--	ut3¹		1		EA	120
rs12824092^1,2	C,H	--	102627421(+)	`CCTTAG/AGAGGT`	3	--	ut3¹ ese³		4		NS EA	412

HapMap Linkage Disequilibrium report for APPL2 (105567074 - 105630016 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for APPL2: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APPL2

DNA2.0 Custom Variant and Variant Library Synthesis for APPL2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

APPL2 for disorders About GeneDecksing

OMIM gene information: 606231 OMIM disorders: --

UniProtKB/Swiss-Prot: DP13B_HUMAN, Q8NEU8

Note=A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion

syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2

1 disease for APPL2: About MalaCards

phelan-mcdermid syndrome

Export disorders for APPL2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for APPL2 gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with APPL2)

Utopia: connect your pdf to the dynamic
world of online information

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. (PubMed id 11431708)^{1, 2, 3, 9} Bonaglia M.C....Zuffardi O. (2001)
APPL1, APPL2, Akt2 and FOXO1a interact with FSHR in a potential signaling complex. (PubMed id 17030088)^{1, 3, 9} Nechamen C.A....Dias J.A. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. (PubMed id 15016378)^{1, 2} Miaczynska M.... Zerial M. (2004)
Endosomal adaptor proteins APPL1 and APPL2 are novel activators of beta-catenin/TCF-mediated transcription. (PubMed id 19433865)^{1, 9} Rashid S....Miaczynska M. (2009)
Genetic variations in APPL2 are associated with overwe ight and obesity in a Chinese population with normal glucose tolerance. (PubMed id 22462604)¹ Jiang S....Jia W. (2012)
Membrane curvature protein exhibits interdomain flexib ility and binds a small GTPase. (PubMed id 23055524)¹ King G.J....Martin J.L. (2012)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
Genetic variability in adapter proteins with APPL1/2 i s associated with the risk of coronary artery disease in type 2 diabetes mellitu s in Chinese Han population. (PubMed id 22340213)¹ Ma X.W....Guo X.H. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 55198	HGNC: 18242	AceView: DIP13B	Ensembl:ENSG00000136044	euGenes: HUgn55198
ECgene: APPL2	H-InvDB: APPL2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for APPL2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for APPL2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for APPL2 gene:
Search GeneIP for patents involving APPL2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for APPL2
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APPL2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for APPL2
	OriGene Protein Over-expression Lysate for APPL2		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for APPL2		OriGene 3'-UTR Clone for APPL2
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for APPL2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for APPL2		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for APPL2		OriGene Custom Protein Services for APPL2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APPL2
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APPL2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APPL2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APPL2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APPL2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APPL2

	GenScript Custom Purified and Recombinant Proteins Services for APPL2		GenScript cDNA clones with any tag delivered in your preferred vector for APPL2
	GenScript Custom Assay Services for APPL2		GenScript Custom Superior Antibodies Services for APPL2
	GenScript Custom overexpressing Cell Line Services for APPL2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in APPL2 promoter
	Search Chromatin IP Primers for APPL2
	RT² qPCR Primer Assay in human, mouse, rat APPL2
	Search GNC Networks for APPL2
	SABiosciences Custom PCR Arrays for APPL2

Search Tocris compounds for APPL2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	APPL2 antibodies
	APPL2 proteins
	APPL2 lysates

	Search for Antibodies for APPL2 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for APPL2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

APPL2 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for APPL2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APPL2

	SwitchGear 3'UTR luciferase reporter plasmids for APPL2
	SwitchGear Promoter luciferase reporter plasmids for APPL2

Search ThermoFisher Antibodies for APPL2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APPL2

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes APPL2 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

APPL2 Gene

adaptor protein, phosphotyrosine interaction, PH domain...

Aliases
for APPL2 gene

Summaries
for APPL2 gene

Genomic Views
for APPL2 gene

Proteins
for APPL2 gene

Protein Domains /
Families
for APPL2 gene

Function
for APPL2 gene

Pathways & Interactions
for APPL2 gene

Drugs & Compounds
for APPL2 gene

Transcripts
for APPL2 gene

Expression
for APPL2 gene

Orthologs
for APPL2 gene

Paralogs
for APPL2 gene

Genomic Variants
for APPL2 gene

Disorders / Diseases
for APPL2 gene

Publications
for APPL2 gene

External Searches for APPL2 gene

Genome Databases showing APPL2 gene

Other Databases showing APPL2 gene

Specialized Databases showing APPL2 gene

Intellectual Property
for APPL2 gene

Products
for APPL2 gene

View Random Gene

Advanced Search

Export list of displayed genes

APPL2 Gene

adaptor protein, phosphotyrosine interaction, PH domain...

Aliasesfor APPL2 gene

Summariesfor APPL2 gene

Genomic Viewsfor APPL2 gene

Proteinsfor APPL2 gene

Protein Domains /Familiesfor APPL2 gene

Functionfor APPL2 gene

Pathways & Interactionsfor APPL2 gene

Drugs & Compoundsfor APPL2 gene

Transcriptsfor APPL2 gene

Expression for APPL2 gene

Orthologsfor APPL2 gene

Paralogsfor APPL2 gene

Genomic Variantsfor APPL2 gene

Disorders / Diseasesfor APPL2 gene

Publicationsfor APPL2 gene

External Searches for APPL2 gene

Genome Databases showing APPL2 gene

Other Databases showing APPL2 gene

Specialized Databases showing APPL2 gene

Intellectual Propertyfor APPL2 gene

Productsfor APPL2 gene

View Random Gene

Aliases
for APPL2 gene

Summaries
for APPL2 gene

Genomic Views
for APPL2 gene

Proteins
for APPL2 gene

Protein Domains /
Families
for APPL2 gene

Function
for APPL2 gene

Pathways & Interactions
for APPL2 gene

Drugs & Compounds
for APPL2 gene

Transcripts
for APPL2 gene

Expression
for APPL2 gene

Orthologs
for APPL2 gene

Paralogs
for APPL2 gene

Genomic Variants
for APPL2 gene

Disorders / Diseases
for APPL2 gene

Publications
for APPL2 gene

Intellectual Property
for APPL2 gene

Products
for APPL2 gene