DAB2 DAB adaptor protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAB2provided by HGNC
Official Full Name: DAB adaptor protein 2provided by HGNC
Primary source: HGNC:HGNC:2662
See related: Ensembl:ENSG00000153071 MIM:601236; AllianceGenome:HGNC:2662
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]
Expression: Broad expression in placenta (RPKM 111.0), kidney (RPKM 73.8) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p13.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (39371677..39424980, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (39621190..39674588, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (39371779..39425082, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disabled-2: a protein up-regulated by high molecular weight hyaluronan has both tumor promoting and tumor suppressor roles in ovarian cancer.
Title: Disabled-2: a protein up-regulated by high molecular weight hyaluronan has both tumor promoting and tumor suppressor roles in ovarian cancer.
Genetic polymorphism of the Dab2 gene and its association with Type 2 Diabetes Mellitus in the Chinese Uyghur population.
Title: Genetic polymorphism of the Dab2 gene and its association with Type 2 Diabetes Mellitus in the Chinese Uyghur population.
Disabled-2 (DAB2): A Key Regulator of Anti- and Pro-Tumorigenic Pathways.
Title: Disabled-2 (DAB2): A Key Regulator of Anti- and Pro-Tumorigenic Pathways.
MicroRNA93 knockdown inhibits acute myeloid leukemia cell growth via inactivating the PI3K/AKT pathway by upregulating DAB2.
Title: MicroRNA‑93 knockdown inhibits acute myeloid leukemia cell growth via inactivating the PI3K/AKT pathway by upregulating DAB2.
Proper E-cadherin membrane location in colon requires Dab2 and it modifies by inflammation and cancer.
Title: Proper E-cadherin membrane location in colon requires Dab2 and it modifies by inflammation and cancer.
Dynamic multimerization of Dab2-Myosin VI complexes regulates cargo processivity while minimizing cortical actin reorganization.
Title: Dynamic multimerization of Dab2-Myosin VI complexes regulates cargo processivity while minimizing cortical actin reorganization.
A dynamic Dab2 keeps myosin VI stably on track.
Title: A dynamic Dab2 keeps myosin VI stably on track.
Involvement of Disabled-2 on skin fibrosis in systemic sclerosis.
Title: Involvement of Disabled-2 on skin fibrosis in systemic sclerosis.
Loss of Disabled-2 Expression in Pancreatic Cancer Progression.
Title: Loss of Disabled-2 Expression in Pancreatic Cancer Progression.
Our data indicates that the AA genotype of rs2855512 and rs2255280 in the Dab2 gene may be a genetic marker of coronary artery disease risk in Chinese Han population.
Title: Dab2 gene variant is associated with increased coronary artery disease risk in Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies DAB2, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-18094 (e-PCR)
- UniSTS:59150

SGC34152 (e-PCR)
- UniSTS:59438

SGC34180 (e-PCR)
- UniSTS:63792

RH67769 (e-PCR)
- UniSTS:74049

SHGC-107361 (e-PCR)
- UniSTS:170314

G54013 (e-PCR)
- UniSTS:109395

SHGC-52617 (e-PCR)
- UniSTS:26200

RH122297 (e-PCR)
- UniSTS:137824

RH103057 (e-PCR)
- UniSTS:97391

DAB2 (e-PCR)
- UniSTS:505776

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SMAD binding	IDA Inferred from Direct Assay more info	PubMed
enables cargo receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cargo receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables low-density lipoprotein particle receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in clathrin coat assembly	IEA Inferred from Electronic Annotation more info
NOT involved_in integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leading edge cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of androgen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Wnt signaling pathway, planar cell polarity pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of aldosterone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of aldosterone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of clathrin-dependent endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of early endosome to late endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in receptor-mediated endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to salt	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in clathrin-coated pit	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in focal adhesion	HDA more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: disabled homolog 2

Names: 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 phosphoprotein

NCBI Reference Sequences (RefSeq)

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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

5254..58557

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244871.2 → 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

Consensus CDS

CCDS58946.1

UniProtKB/TrEMBL

B2RAW0

Related

ENSP00000439919.1, ENST00000545653.5

Conserved Domains (1) summary

cd01215
Location:35 → 172

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001343.4 → NP_001334.2 disabled homolog 2 isoform 1

See identical proteins and their annotated locations for NP_001334.2

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/Swiss-Prot

A6NES5, P98082, Q13598, Q9BTY0, Q9UK04

UniProtKB/TrEMBL

B2RAW0

Related

ENSP00000313391.6, ENST00000320816.11

Conserved Domains (1) summary

cd01215
Location:35 → 172

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain