Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55198
Gene name	Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Gene symbol	APPL2
Synonyms (NCBI Gene)	DIP13B
Chromosome	12
Chromosome location	12q23.3
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,

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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
MIRT791296	hsa-miR-24	CLIP-seq
MIRT791297	hsa-miR-3064-5p	CLIP-seq
MIRT791298	hsa-miR-3591-5p	CLIP-seq
MIRT791299	hsa-miR-4255	CLIP-seq
MIRT791300	hsa-miR-4284	CLIP-seq
MIRT791301	hsa-miR-4794	CLIP-seq
MIRT791302	hsa-miR-656	CLIP-seq
MIRT1933400	hsa-miR-1231	CLIP-seq
MIRT1933401	hsa-miR-1273e	CLIP-seq
MIRT1933402	hsa-miR-137	CLIP-seq
MIRT1933403	hsa-miR-219-5p	CLIP-seq
MIRT1933404	hsa-miR-2964a-5p	CLIP-seq
MIRT1933405	hsa-miR-3144-3p	CLIP-seq
MIRT1933406	hsa-miR-3614-3p	CLIP-seq
MIRT1933407	hsa-miR-3675-3p	CLIP-seq
MIRT1933408	hsa-miR-3684	CLIP-seq
MIRT1933409	hsa-miR-3692	CLIP-seq
MIRT1933410	hsa-miR-3914	CLIP-seq
MIRT1933411	hsa-miR-3923	CLIP-seq
MIRT1933412	hsa-miR-4519	CLIP-seq
MIRT1933413	hsa-miR-4684-5p	CLIP-seq
MIRT1933414	hsa-miR-4782-3p	CLIP-seq
MIRT1933415	hsa-miR-579	CLIP-seq
MIRT1933416	hsa-miR-654-3p	CLIP-seq
MIRT1933417	hsa-miR-664	CLIP-seq
MIRT2173521	hsa-miR-297	CLIP-seq
MIRT2173522	hsa-miR-3143	CLIP-seq
MIRT2173523	hsa-miR-3174	CLIP-seq
MIRT2173524	hsa-miR-330-3p	CLIP-seq
MIRT2173525	hsa-miR-3674	CLIP-seq
MIRT2173526	hsa-miR-3910	CLIP-seq
MIRT2173527	hsa-miR-3922-5p	CLIP-seq
MIRT2173528	hsa-miR-3935	CLIP-seq
MIRT2173529	hsa-miR-4264	CLIP-seq
MIRT2173530	hsa-miR-4302	CLIP-seq
MIRT2173531	hsa-miR-4797-3p	CLIP-seq
MIRT2173532	hsa-miR-543	CLIP-seq
MIRT2173533	hsa-miR-550a	CLIP-seq
MIRT2173534	hsa-miR-567	CLIP-seq
MIRT2173535	hsa-miR-648	CLIP-seq
MIRT2426388	hsa-miR-3121-3p	CLIP-seq
MIRT2477058	hsa-miR-1305	CLIP-seq
MIRT2477059	hsa-miR-138	CLIP-seq
MIRT2477060	hsa-miR-181a	CLIP-seq
MIRT2477061	hsa-miR-181b	CLIP-seq
MIRT2477062	hsa-miR-181c	CLIP-seq
MIRT2477063	hsa-miR-181d	CLIP-seq
MIRT2477064	hsa-miR-2861	CLIP-seq
MIRT2173524	hsa-miR-330-3p	CLIP-seq
MIRT2477065	hsa-miR-339-3p	CLIP-seq
MIRT2477066	hsa-miR-3607-3p	CLIP-seq
MIRT1933407	hsa-miR-3675-3p	CLIP-seq
MIRT1933408	hsa-miR-3684	CLIP-seq
MIRT1933411	hsa-miR-3923	CLIP-seq
MIRT2477067	hsa-miR-4262	CLIP-seq
MIRT2477068	hsa-miR-4266	CLIP-seq
MIRT2477069	hsa-miR-4273	CLIP-seq
MIRT2477070	hsa-miR-4303	CLIP-seq
MIRT2477071	hsa-miR-4427	CLIP-seq
MIRT2477072	hsa-miR-4473	CLIP-seq
MIRT1933412	hsa-miR-4519	CLIP-seq
MIRT2477073	hsa-miR-4668-3p	CLIP-seq
MIRT2477074	hsa-miR-4677-5p	CLIP-seq
MIRT2477075	hsa-miR-4680-3p	CLIP-seq
MIRT1933413	hsa-miR-4684-5p	CLIP-seq
MIRT2477076	hsa-miR-4695-5p	CLIP-seq
MIRT2477077	hsa-miR-4751	CLIP-seq
MIRT2477078	hsa-miR-4779	CLIP-seq
MIRT2477079	hsa-miR-512-3p	CLIP-seq
MIRT2477080	hsa-miR-520f	CLIP-seq
MIRT2477081	hsa-miR-586	CLIP-seq
MIRT2477082	hsa-miR-607	CLIP-seq
MIRT2477083	hsa-miR-635	CLIP-seq
MIRT2477084	hsa-miR-636	CLIP-seq
MIRT2477058	hsa-miR-1305	CLIP-seq
MIRT2477059	hsa-miR-138	CLIP-seq
MIRT2477060	hsa-miR-181a	CLIP-seq
MIRT2477061	hsa-miR-181b	CLIP-seq
MIRT2477062	hsa-miR-181c	CLIP-seq
MIRT2477063	hsa-miR-181d	CLIP-seq
MIRT2675190	hsa-miR-2113	CLIP-seq
MIRT2477064	hsa-miR-2861	CLIP-seq
MIRT2173524	hsa-miR-330-3p	CLIP-seq
MIRT2477065	hsa-miR-339-3p	CLIP-seq
MIRT2477066	hsa-miR-3607-3p	CLIP-seq
MIRT1933407	hsa-miR-3675-3p	CLIP-seq
MIRT1933408	hsa-miR-3684	CLIP-seq
MIRT1933411	hsa-miR-3923	CLIP-seq
MIRT2477067	hsa-miR-4262	CLIP-seq
MIRT2477068	hsa-miR-4266	CLIP-seq
MIRT2477069	hsa-miR-4273	CLIP-seq
MIRT2477070	hsa-miR-4303	CLIP-seq
MIRT2477071	hsa-miR-4427	CLIP-seq
MIRT2477072	hsa-miR-4473	CLIP-seq
MIRT1933412	hsa-miR-4519	CLIP-seq
MIRT2675191	hsa-miR-4536	CLIP-seq
MIRT2477073	hsa-miR-4668-3p	CLIP-seq
MIRT2477074	hsa-miR-4677-5p	CLIP-seq
MIRT2477075	hsa-miR-4680-3p	CLIP-seq
MIRT1933413	hsa-miR-4684-5p	CLIP-seq
MIRT2477076	hsa-miR-4695-5p	CLIP-seq
MIRT2477077	hsa-miR-4751	CLIP-seq
MIRT2477078	hsa-miR-4779	CLIP-seq
MIRT2477079	hsa-miR-512-3p	CLIP-seq
MIRT2477080	hsa-miR-520f	CLIP-seq
MIRT2675192	hsa-miR-548u	CLIP-seq
MIRT1933415	hsa-miR-579	CLIP-seq
MIRT2477081	hsa-miR-586	CLIP-seq
MIRT2675193	hsa-miR-590-3p	CLIP-seq
MIRT2477082	hsa-miR-607	CLIP-seq
MIRT2477083	hsa-miR-635	CLIP-seq
MIRT2477084	hsa-miR-636	CLIP-seq
MIRT1933417	hsa-miR-664	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0001726	Component	Ruffle	ISS
GO:0001786	Function	Phosphatidylserine binding	IDA	18034774
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0002024	Process	Diet induced thermogenesis	IEA
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, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	15016378, 18034774
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	21645192
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IDA	18034774
GO:0005886	Component	Plasma membrane	IEA
GO:0006606	Process	Protein import into nucleus	IDA	26583432
GO:0006606	Process	Protein import into nucleus	IEA
GO:0007165	Process	Signal transduction	TAS	15016378
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IMP	26583432
GO:0009631	Process	Cold acclimation	IEA
GO:0009631	Process	Cold acclimation	ISS
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IDA	15016378, 21645192
GO:0010008	Component	Endosome membrane	IEA
GO:0010762	Process	Regulation of fibroblast migration	IEA
GO:0010762	Process	Regulation of fibroblast migration	ISS
GO:0016020	Component	Membrane	IDA	18034774
GO:0016020	Component	Membrane	IEA
GO:0023052	Process	Signaling	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	18034774
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031982	Component	Vesicle	IDA	21645192
GO:0032009	Component	Early phagosome	IEA
GO:0032009	Component	Early phagosome	ISS
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0033211	Process	Adiponectin-activated signaling pathway	IEA
GO:0033211	Process	Adiponectin-activated signaling pathway	ISS
GO:0034143	Process	Regulation of toll-like receptor 4 signaling pathway	IEA
GO:0034143	Process	Regulation of toll-like receptor 4 signaling pathway	ISS
GO:0035091	Function	Phosphatidylinositol binding	IDA	18034774
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	ISS
GO:0036186	Component	Early phagosome membrane	IEA
GO:0036186	Component	Early phagosome membrane	ISS
GO:0042592	Process	Homeostatic process	IEA
GO:0042593	Process	Glucose homeostasis	IMP	24879834
GO:0042802	Function	Identical protein binding	IPI	18034774
GO:0042803	Function	Protein homodimerization activity	IDA	18034774
GO:0042995	Component	Cell projection	IEA
GO:0044354	Component	Macropinosome	IEA
GO:0044354	Component	Macropinosome	ISS
GO:0044877	Function	Protein-containing complex binding	IPI	15016378
GO:0045088	Process	Regulation of innate immune response	IEA
GO:0045088	Process	Regulation of innate immune response	ISS
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0046322	Process	Negative regulation of fatty acid oxidation	IEA
GO:0046322	Process	Negative regulation of fatty acid oxidation	ISS
GO:0046325	Process	Negative regulation of D-glucose import	IEA
GO:0046325	Process	Negative regulation of D-glucose import	IMP	24879834
GO:0046325	Process	Negative regulation of D-glucose import	ISS
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050768	Process	Negative regulation of neurogenesis	ISS
GO:0051289	Process	Protein homotetramerization	IDA	23055524
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900077	Process	Negative regulation of cellular response to insulin stimulus	IEA
GO:1900077	Process	Negative regulation of cellular response to insulin stimulus	ISS
GO:1905303	Process	Positive regulation of macropinocytosis	IEA
GO:1905303	Process	Positive regulation of macropinocytosis	ISS
GO:1905451	Process	Positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IEA
GO:1905451	Process	Positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	ISS
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IDA	15016378
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	ISS

MIM	HGNC	e!Ensembl
606231	18242	ENSG00000136044

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

MPAVDKLLLEEALQDSPQTRSLLSVFEEDAGTLTDYTNQLLQAMQRVYGAQNEMCLATQQ
LSKQLLAYEKQNFALGKGDEEVISTLHYFSKVVDELNLLHTELAKQLADTMVLPIIQFRE
KDLTEVSTLKDLFGLASNEHDLSMAKYSRLPKKKENEKVKTEVGKEVAAARRKQHLSSLQ
YYCALNALQYRKQMAMMEPMIGFAHGQINFFKKGAEMFSKRMDSFLSSVADMVQSIQVEL
EAEAEKMRVSQQELLSVDESVYTPDSDVAAPQINRNLIQKAGYLNLRNKTGLVTTTWERL
YFFTQGGNLMCQPRGAVAGGLIQDLDNCSVMAVDCEDRRYCFQITTPNGKSGIILQAESR
KENEEWICAINNISRQIYLTDNPEAVAIKLNQTALQAVTPITSFGKKQESSCPSQNLKNS
EMENENDKIVPKATASLPEAEELIAPGTPIQFDIVLPATEFLDQNRGSRRTNPFGETEDE
SFPEAEDSLLQQMFIVRFLGSMAVKTDSTTEVIYEAMRQVLAARAIHNIFRMTESHLMVT
SQSLRLIDPQTQVSRANFELTSVTQFAAHQENKRLVGFVIRVPESTGEESLSTYIFESNS
EGEKICYAINLGKEIIEVQKDPEALAQLMLSIPLTNDGKYVLLNDQPDDDDGNPNEHRGA
ESEA

Sequence length

664

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	26583432, 30218350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26583432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30218350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	22340213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29675572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	22340213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	23977033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22989406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22989406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22989406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26583432, 30218350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26583432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29675572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28965332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22989406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23977033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22462604, 29467283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22462604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24763056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30397274	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

APPL2 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2)