• Gene id: 55198

Gene Summary

• Gene Symbol: APPL2   Gene   UCSC   Ensembl
• Aliases: DIP13B
• Gene name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
• Alternate names: DCC-interacting protein 13-beta, DIP13 beta, adapter protein containing PH domain, PTB domain and leucine zipper motif 2, adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2,
• Gene location: 12q23.3 (105236229: 105173296)     Exons: 24     NC_000012.12
• Gene summary(Entrez): 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,
• OMIM: 601883

Protein Summary

• Protein general information: Q8NEU8  
  • Name: DCC interacting protein 13 beta (Dip13 beta) (Adapter protein containing PH domain, PTB domain and leucine zipper motif 2)
  • Length: 664  
  • Mass: 74493
  • Tissue specificity: High levels in brain, heart, kidney and skeletal muscle. {ECO
• Sequence:

  MPAVDKLLLEEALQDSPQTRSLLSVFEEDAGTLTDYTNQLLQAMQRVYGAQNEMCLATQQLSKQLLAYEKQNFAL
  GKGDEEVISTLHYFSKVVDELNLLHTELAKQLADTMVLPIIQFREKDLTEVSTLKDLFGLASNEHDLSMAKYSRL
  PKKKENEKVKTEVGKEVAAARRKQHLSSLQYYCALNALQYRKQMAMMEPMIGFAHGQINFFKKGAEMFSKRMDSF
  LSSVADMVQSIQVELEAEAEKMRVSQQELLSVDESVYTPDSDVAAPQINRNLIQKAGYLNLRNKTGLVTTTWERL
  YFFTQGGNLMCQPRGAVAGGLIQDLDNCSVMAVDCEDRRYCFQITTPNGKSGIILQAESRKENEEWICAINNISR
  QIYLTDNPEAVAIKLNQTALQAVTPITSFGKKQESSCPSQNLKNSEMENENDKIVPKATASLPEAEELIAPGTPI
  QFDIVLPATEFLDQNRGSRRTNPFGETEDESFPEAEDSLLQQMFIVRFLGSMAVKTDSTTEVIYEAMRQVLAARA
  IHNIFRMTESHLMVTSQSLRLIDPQTQVSRANFELTSVTQFAAHQENKRLVGFVIRVPESTGEESLSTYIFESNS
  EGEKICYAINLGKEIIEVQKDPEALAQLMLSIPLTNDGKYVLLNDQPDDDDGNPNEHRGAESEA

• Structural information:
  • Protein Domains: (3..26-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (277..37-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (488..63-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR027267  IPR011993  IPR001849  IPR006020  
  • Prosite: PS50003 PS01179
  • PDB: 4H8S 5C5B
  • PDBsum: 4H8S 5C5B
  • STRING: ENSP00000446917
• Other Databases: GeneCards:  APPL2  Malacards:  APPL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0023052	signaling	IBA	biological process
GO:0010008	endosome membrane	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0006606	protein import into nucleus	IDA	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:2000178	negative regulation of neural precursor cell proliferation	ISS	biological process
GO:0044354	macropinosome	ISS	cellular component
GO:0032587	ruffle membrane	ISS	cellular component
GO:0034143	regulation of toll-like receptor 4 signaling pathway	ISS	biological process
GO:0002024	diet induced thermogenesis	ISS	biological process
GO:0050768	negative regulation of neurogenesis	ISS	biological process
GO:0036186	early phagosome membrane	ISS	cellular component
GO:0035729	cellular response to hepatocyte growth factor stimulus	ISS	biological process
GO:0032009	early phagosome	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:1900077	negative regulation of cellular response to insulin stimulus	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046325	negative regulation of glucose import	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009631	cold acclimation	ISS	biological process
GO:1905303	positive regulation of macropinocytosis	ISS	biological process
GO:0010762	regulation of fibroblast migration	ISS	biological process
GO:0060100	positive regulation of phagocytosis, engulfment	ISS	biological process
GO:0046325	negative regulation of glucose import	ISS	biological process
GO:0033211	adiponectin-activated signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905451	positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	ISS	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0045088	regulation of innate immune response	ISS	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0046322	negative regulation of fatty acid oxidation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000178	negative regulation of neural precursor cell proliferation	IEA	biological process
GO:1900077	negative regulation of cellular response to insulin stimulus	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0044354	macropinosome	IEA	cellular component
GO:0036186	early phagosome membrane	IEA	cellular component
GO:0035729	cellular response to hepatocyte growth factor stimulus	IEA	biological process
GO:0034143	regulation of toll-like receptor 4 signaling pathway	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0032009	early phagosome	IEA	cellular component
GO:0002024	diet induced thermogenesis	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:1905451	positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IEA	biological process
GO:1905303	positive regulation of macropinocytosis	IEA	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0060100	positive regulation of phagocytosis, engulfment	IEA	biological process
GO:0046325	negative regulation of glucose import	IEA	biological process
GO:0046322	negative regulation of fatty acid oxidation	IEA	biological process
GO:0045088	regulation of innate immune response	IEA	biological process
GO:0033211	adiponectin-activated signaling pathway	IEA	biological process
GO:0010762	regulation of fibroblast migration	IEA	biological process
GO:0009631	cold acclimation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0023052	signaling	IBA	biological process
GO:0010008	endosome membrane	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0001786	phosphatidylserine binding	IDA	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0051289	protein homotetramerization	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0006606	protein import into nucleus	IDA	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:2000178	negative regulation of neural precursor cell proliferation	ISS	biological process
GO:0044354	macropinosome	ISS	cellular component
GO:0032587	ruffle membrane	ISS	cellular component
GO:0034143	regulation of toll-like receptor 4 signaling pathway	ISS	biological process
GO:0002024	diet induced thermogenesis	ISS	biological process
GO:0050768	negative regulation of neurogenesis	ISS	biological process
GO:0036186	early phagosome membrane	ISS	cellular component
GO:0035729	cellular response to hepatocyte growth factor stimulus	ISS	biological process
GO:0032009	early phagosome	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:1900077	negative regulation of cellular response to insulin stimulus	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046325	negative regulation of glucose import	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009631	cold acclimation	ISS	biological process
GO:1905303	positive regulation of macropinocytosis	ISS	biological process
GO:0010762	regulation of fibroblast migration	ISS	biological process
GO:0060100	positive regulation of phagocytosis, engulfment	ISS	biological process
GO:0046325	negative regulation of glucose import	ISS	biological process
GO:0033211	adiponectin-activated signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1905451	positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	ISS	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0045088	regulation of innate immune response	ISS	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0046322	negative regulation of fatty acid oxidation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000178	negative regulation of neural precursor cell proliferation	IEA	biological process
GO:1900077	negative regulation of cellular response to insulin stimulus	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0044354	macropinosome	IEA	cellular component
GO:0036186	early phagosome membrane	IEA	cellular component
GO:0035729	cellular response to hepatocyte growth factor stimulus	IEA	biological process
GO:0034143	regulation of toll-like receptor 4 signaling pathway	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0032009	early phagosome	IEA	cellular component
GO:0002024	diet induced thermogenesis	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:1905451	positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IEA	biological process
GO:1905303	positive regulation of macropinocytosis	IEA	biological process
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0060100	positive regulation of phagocytosis, engulfment	IEA	biological process
GO:0046325	negative regulation of glucose import	IEA	biological process
GO:0046322	negative regulation of fatty acid oxidation	IEA	biological process
GO:0045088	regulation of innate immune response	IEA	biological process
GO:0033211	adiponectin-activated signaling pathway	IEA	biological process
GO:0010762	regulation of fibroblast migration	IEA	biological process
GO:0009631	cold acclimation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq