DAB2 - DAB adaptor protein 2 Gene

Homo sapiens

Also known as DOC2; DOC-2

Gene ID: 1601 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (3)

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

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