DAB2 disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: DAB2provided by HGNC
Official Full Name: disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)provided by HGNC
Primary source: HGNC:2662
See related: Ensembl:ENSG00000153071; HPRD:03139; MIM:601236; Vega:OTTHUMG00000162043
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DOC2; DOC-2
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]

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Genomic context

Location :: 5p13

Sequence :: Chromosome: 5; NC_000005.9 (39371780..39425335, complement)

See DAB2 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Expressions of Disabled-2 and Axin were concurrently reduced and correlated with the malignant phenotype of lung cancers.
Title: Disabled-2 and Axin are concurrently colocalized and underexpressed in lung cancers.
Dab2 is part of an accommodation of the cell to the altered physicochemical conditions prevalent in mitosis, aimed at allowing endocytic activity throughout the cell cycle.
Title: Negative regulation of the endocytic adaptor disabled-2 (Dab2) in mitosis.
Loss of Dab2 expression, commonly observed in breast cancer, may facilitate TGFbeta-stimulated epithelial-to-mesenchymal transition (EMT), and therefore increase the propensity for metastasis.
Title: Disabled-2 downregulation promotes epithelial-to-mesenchymal transition.
Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
DAB2 acts as a tumor suppressor by dictating tumor cell TGF-beta responses, identify a biomarker for squamous cell carcinomas progression.
Title: Epigenetic downregulation of human disabled homolog 2 switches TGF-beta from a tumor suppressor to a tumor promoter.
Demonstrate frequent DAB2 promoter hypermethylation in nasopharyngeal carcinoma and support the putative tumour suppressor effect of DAB2.
Title: Putative tumour-suppressor gene DAB2 is frequently down regulated by promoter hypermethylation in nasopharyngeal carcinoma.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: New loci associated with kidney function and chronic kidney disease.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
two pools of Dab2 co-exist at the platelet surface, in both sulfatide- and integrin receptor-bound states, and their balance controls the extent of the clotting response
Title: Sulfatides partition disabled-2 in response to platelet activation.

Submit: New GeneRIF Correction See all (32)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

New loci associated with kidney function and chronic kidney disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
P98082	Q96CW1	AP2M1	HPRD	PubMed
P98082	O15169	AXIN1	HPRD	PubMed
P98082	P06493	CDK1	HPRD	PubMed
P98082	P41240	CSK	HPRD	PubMed
P98082	Q14689	DIP2A	HPRD	PubMed
P98082	Q92997	DVL3	HPRD	PubMed
P98082	P09769	FGR	HPRD	PubMed
P98082	P62993	GRB2	HPRD	PubMed
P98082	P05106	ITGB3	HPRD	PubMed
P98082	P18084	ITGB5	HPRD	PubMed
P98082	P98164	LRP2	HPRD	PubMed
P98082	Q86YT6	MIB1	HPRD	PubMed
P98082	Q9UM54	MYO6	HPRD	PubMed
P98082	Q13526	PIN1	HPRD	PubMed
P98082	P05771	PRKCB	HPRD	PubMed
P98082	Q05655	PRKCD	HPRD	PubMed
P98082	P05129	PRKCG	HPRD	PubMed
P98082	Q15796	SMAD2	HPRD	PubMed
P98082	P84022	SMAD3	HPRD	PubMed
P98082	Q9HAU4	SMURF2	HPRD	PubMed
P98082	P12931	SRC	HPRD	PubMed
P98082	P36897	TGFBR1	HPRD	PubMed
P98082	P37173	TGFBR2	HPRD	PubMed
BioGRID:107971	BioGRID:106670	AP2A2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107971	BioGRID:106830	APLP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:106831	APLP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:113909	AXIN1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:107420	CDK1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:107971	BioGRID:107832	CSK	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:127478	DAB2IP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:108188	DVL1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:108189	DVL2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:108190	DVL3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:108559	FGR	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid
BioGRID:107971	BioGRID:109847	INPP5D	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:110141	LDLR	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:110215	LRP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107971	BioGRID:110216	LRP2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107971	BioGRID:110730	MYO6	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:107971	BioGRID:111317	PIN1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:110262	SMAD2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:110263	SMAD3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107971	BioGRID:112904	TGFBR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107971	BioGRID:112906	TGFBR2	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
protein C-terminus binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell morphogenesis involved in differentiation	IEA Inferred from Electronic Annotation more info
cell proliferation	TAS Traceable Author Statement more info	PubMed
excretion	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
negative regulation of canonical Wnt receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
negative regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info	PubMed
pinocytosis	IEA Inferred from Electronic Annotation more info
positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info	PubMed
receptor-mediated endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
clathrin coated vesicle membrane	IEA Inferred from Electronic Annotation more info
coated pit	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: disabled homolog 2

Names: disabled homolog 2; differentially-expressed protein 2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030312.1 RefSeqGene

Range

5001..58560

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244871.1 → NP_001231800.1 disabled homolog 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AF188298, AI739507, AK130136, CB989218, U53446

UniProtKB/Swiss-Prot

P98082

Conserved Domains (1) summary

cl00273
Location:42 – 170
Blast Score: 490

PH-like; Pleckstrin homology-like domain
NM_001343.3 → NP_001334.2 disabled homolog 2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).

Source sequence(s)

AF188298, AI739507, AK130136, AK314381, CB989218, U53446

Consensus CDS

CCDS34149.1

UniProtKB/TrEMBL

B2RAW0

UniProtKB/Swiss-Prot

P98082

Related

ENSP00000313391, OTTHUMP00000221141, ENST00000320816, OTTHUMT00000367014

Conserved Domains (1) summary

cl00273
Location:42 – 170
Blast Score: 491

PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

39371780..39425335, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

39323387..39377010, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008846.7	None
genomic	AC008916.7 (28821..42694)	None
genomic	AF205890.1	AAF23161.1
genomic	CH471119.1	EAW55989.1
		EAW55990.1
		EAW55991.1
		EAW55992.1
		EAW55993.1
		EAW55994.1
mRNA	AF188298.1	AAF05540.1
mRNA	AI739507.1	None
mRNA	AK024965.1	None
mRNA	AK130136.1	None
mRNA	AK297984.1	BAG60293.1
mRNA	AK314381.1	BAG37007.1
mRNA	BC003064.2	AAH03064.1
mRNA	BU742719.1	None
mRNA	CB989218.1	None
mRNA	L16886.1	AAA93195.1
mRNA	U39050.1	AAC50824.1
mRNA	U53446.1	AAA98975.1
other-genetic	DQ891872.2	ABM82798.1
other-genetic	EU176643.1	ABW03444.1