• Gene id: 1601

Gene Summary

• Gene Symbol: DAB2   Gene   UCSC   Ensembl
• Aliases: DOC-2, DOC2
• Gene name: DAB adaptor protein 2
• Alternate names: disabled homolog 2, DAB2, clathrin adaptor protein, Dab, mitogen-responsive phosphoprotein, homolog 2, adaptor molecule disabled-2, differentially expressed in ovarian carcinoma 2, differentially-expressed protein 2, disabled homolog 2, mitogen-responsive phosp,
• Gene location: 5p13.1 (39527438: 39498754)     Exons: 13     NC_000004.12
• Gene summary(Entrez): This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains
• OMIM: 601236

Protein Summary

• Protein general information: P98082  
  • Name: Disabled homolog 2 (Adaptor molecule disabled 2) (Differentially expressed in ovarian carcinoma 2) (DOC 2) (Differentially expressed protein 2)
  • Length: 770  
  • Mass: 82448
  • Tissue specificity: Expressed in deep invaginations, inclusion cysts and the surface epithelial cells of the ovary. Also expressed in breast epithelial cells, spleen, thymus, prostate, testis, macrophages, fibroblasts, lung epithelial cells, placenta, bra
• Sequence:

  MSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDVPDARGDKMSQDSMMK
  LKGMAAAGRSQGQHKQRIWVNISLSGIKIIDEKTGVIEHEHPVNKISFIARDVTDNRAFGYVCGGEGQHQFFAIK
  TGQQAEPLVVDLKDLFQVIYNVKKKEEEKKKIEEASKAVENGSEALMILDDQTNKLKSGVDQMDLFGDMSTPPDL
  NSPTESKDILLVDLNSEIDTNQNSLRENPFLTNGITSCSLPRPTPQASFLPENAFSANLNFFPTPNPDPFRDDPF
  TQPDQSTPSSFDSLKSPDQKKENSSSSSTPLSNGPLNGDVDYFGQQFDQISNRTGKQEAQAGPWPFSSSQTQPAV
  RTQNGVSEREQNGFSVKSSPNPFVGSPPKGLSIQNGVKQDLESSVQSSPHDSIAIIPPPQSTKPGRGRRTAKSSA
  NDLLASDIFAPPVSEPSGQASPTGQPTALQPNPLDLFKTSAPAPVGPLVGLGGVTVTLPQAGPWNTASLVFNQSP
  SMAPGAMMGGQPSGFSQPVIFGTSPAVSGWNQPSPFAASTPPPVPVVWGPSASVAPNAWSTTSPLGNPFQSNIFP
  APAVSTQPPSMHSSLLVTPPQPPPRAGPPKDISSDAFTALDPLGDKEIKDVKEMFKDFQLRQPPAVPARKGEQTS
  SGTLSAFASYFNSKVGIPQENADHDDFDANQLLNKINEPPKPAPRQVSLPVTKSTDNAFENPFFKDSFGSSQASV
  ASSQPVSSEMYRDPFGNPFA

• Structural information:
  • Protein Domains: (45..19-)
    (/note="PID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00148"-)
  • Interpro: IPR011993  IPR006020  
  • Prosite: PS01179
  • PDB: 2LSW
  • PDBsum: 2LSW
  • DIP: 45617
  • STRING: ENSP00000313391
• Other Databases: GeneCards:  DAB2  Malacards:  DAB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045807	positive regulation of endocytosis	IBA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0046332	SMAD binding	IDA	molecular function
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IDA	biological process
GO:2000643	positive regulation of early endosome to late endosome transport	IMP	biological process
GO:0060766	negative regulation of androgen receptor signaling pathway	IMP	biological process
GO:0045807	positive regulation of endocytosis	IMP	biological process
GO:0038024	cargo receptor activity	IMP	molecular function
GO:0035615	clathrin adaptor activity	IMP	molecular function
GO:2000370	positive regulation of clathrin-dependent endocytosis	IMP	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
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:0090090	negative regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032091	negative regulation of protein binding	IMP	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	IMP	biological process
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005905	clathrin-coated pit	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0007229	integrin-mediated signaling pathway	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0045807	positive regulation of endocytosis	IMP	biological process
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0035026	leading edge cell differentiation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881