DAB2 - DAB adaptor protein 2 Gene

Also Known as DOC2; DOC-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1601

About DAB2

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:39,371,677-39,424,980 (from NCBI)

This gene has 17 transcripts (splice variants), 291 orthologues and 11 paralogues. Broad expression in placenta (RPKM 111.0), kidney (RPKM 73.8) and 20 other tissues.

Summary

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 of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

DAB2 Products (2)

mRNA	Protein	Name
NM_001244871.2	NP_001231800.1	disabled homolog 2 isoform 2
NM_001343.4	NP_001334.2	disabled homolog 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables SMAD binding	IDA IDA: Inferred from direct assay	11387212	GOA
enables cargo receptor activity	IMP IMP: Inferred from mutant phenotype	16984970	GOA
enables clathrin adaptor activity	IMP IMP: Inferred from mutant phenotype	16984970	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11387212	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in integrin-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in leading edge cell differentiation	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in negative regulation of androgen receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	16267015	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	15734730	GOA
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in negative regulation of protein binding	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in negative regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	11387212	GOA
involved in positive regulation of Wnt signaling pathway, planar cell polarity pathway	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in positive regulation of clathrin-dependent endocytosis	IMP IMP: Inferred from mutant phenotype	16984970	GOA
involved in positive regulation of early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	21995445	GOA
involved in positive regulation of endocytosis	IMP IMP: Inferred from mutant phenotype	19581412	GOA
involved in positive regulation of epithelial to mesenchymal transition	IDA IDA: Inferred from direct assay	15734730	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	12805222	GOA
involved in transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	11387212	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	12857860	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	19581412	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DAB2 Protein Structure

PID

0
200
400
600
770 a.a.

Protein Preferred Names	Protein Names
disabled homolog 2	DAB2, clathrin adaptor protein

DAB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DAB2	P98082	SMAD2	Homo sapiens	Q15796	Anti Bait CoIP	11387212
Intra	DAB2	P98082	SMAD2	Homo sapiens	Q15796	Pull Down	11387212
Intra	DAB2	P98082	SMAD3	Homo sapiens	P84022	Anti Bait CoIP	11387212
Intra	DAB2	P98082	SMAD3	Homo sapiens	P84022	Pull Down	11387212
Intra	DAB2	P98082	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	DAB2	P98082	GRB2	Homo sapiens	P62993	Peptide Array	17474147
Intra	DAB2	P98082	GRB2	Homo sapiens	P62993	Y2H Pooling	20936779
Intra	DAB2	P98082	LRP6	Homo sapiens	O75581	Anti Tag CoIP	22491013

Cross: Cross-species interaction Intra: Intraspecies interaction

DAB2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83107	DAB2 Antibody (YA2852)	WB, IHC-P, IP	Human, Mouse, Rat
HY-P83107A	DAB2 Antibody (YA2852)(PBS only)	WB, IHC-P, IP	Human, Mouse, Rat
HY-P84445	DAB2 Antibody (YA4142)	ICC/IF, FC, ELISA	Human
HY-P84445A	DAB2 Antibody (YA4142)(PBS only)	ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
Teratocarcinoma	Mixed Embryonal Carcinoma And Teratoma
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Autosomal Recessive Arh FHCL4 Autosomal Recessive Hypercholesterolemia Arh1 Arh2 Autosomal Recessive Hypercholesterolemia 1 Autosomal Recessive Hypercholesterolemia 2 Fhcb1 Fhcb2 Hypercholesterolemia, Autosomal Recessive, 1, Formerly Arh1, Formerly Fhcb1, Formerly Hypercholesterolemia, Autosomal Recessive, 2, Formerly Arh2, Formerly Fhcb2, Formerly Familial Autosomal Recessive Hypercholesterolemia Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, Type 4
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Lactocele	Galactocele Galactocoele Lacteal Cyst
Macular Degeneration, Age-Related, 4	Age Related Macular Degeneration 4 ARMD4 Macular Degeneration, Age-Related, Type 4
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Deafness, Autosomal Recessive 17	DFNB17 Autosomal Recessive Nonsyndromic Deafness 17 Autosomal Recessive Deafness 17
Donnai-Barrow Syndrome	Faciooculoacousticorenal Syndrome Dbs/Foar Syndrome Foar Syndrome Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome Facio-Oculo-Acoustico-Renal Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome Holmes-Schepens Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness DBS Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss Donnai Barrow Syndrome
Cervical Non-Keratinizing Squamous Cell Carcinoma
Familial Hypercholesterolemia	Hyperlipoproteinemia Type Iia Familial Hyperbetalipoproteinaemia Familial Hypercholesteremia Fredrickson Type Iia Hyperlipoproteinemia Fredrickson Type Iia Lipidaemia Hyperbetalipoproteinemia Type Ii Hyperlipidemia Familial Hypercholesterolæmia Familial Hypercholesterolaemia Fh Hypercholesterolemia Familial Hyperlipoproteinemia Type Ii Hypercholesterolemia, Familial
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03511	DAB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-112114	DTPA-DAB2		/	Unkown
HY-RS03512	DAB2IP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20265	Dab2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26773	Dab2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DAB2	RGD	RGD:621007
Mus musculus	DAB2	MGD	MGI:109175
Canis familiaris	DAB2	VGNC	VGNC:39759
Bos taurus	DAB2	VGNC	VGNC:27865
Felis catus	DAB2	VGNC	VGNC:61329
Macaca mulatta	DAB2	VGNC	VGNC:71724
Others	DAB2	NCBI