Dab2 disabled 2, mitogen-responsive phosphoprotein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dab2provided by MGI
Official Full Name: disabled 2, mitogen-responsive phosphoproteinprovided by MGI
Primary source: MGI:MGI:109175
See related: Ensembl:ENSMUSG00000022150 AllianceGenome:MGI:109175
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: p96; Doc2; Doc-2; D15Wsu122e; 5730435J12Rik; D630005B22Rik
Summary: Enables several functions, including AP-2 adaptor complex binding activity; clathrin adaptor activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of receptor-mediated endocytosis; and positive regulation of signal transduction. Acts upstream of or within several processes, including hematopoietic stem cell proliferation; negative regulation of extrinsic apoptotic signaling pathway; and renal protein absorption. Located in apical plasma membrane. Part of clathrin coat of coated pit. Is expressed in several structures, including 8-cell stage embryo; central nervous system; egg cylinder; embryo mesenchyme; and metanephros. Orthologous to human DAB2 (DAB adaptor protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in kidney adult (RPKM 58.2), placenta adult (RPKM 56.8) and 17 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 A1; 15 2.15 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (6329269..6470196)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (6299788..6440715)

Chromosome 15 - NC_000081.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells.
Title: Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells.
Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.
Title: Megalin, cubilin, and Dab2 drive endocytic flux in kidney proximal tubule cells.
Sporothrix schenckii regulates macrophage inflammatory responses via the c-JUN-induced Dab2 transcription.
Title: Sporothrix schenckii regulates macrophage inflammatory responses via the c-JUN-induced Dab2 transcription.
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.
Involvement of Disabled-2 on skin fibrosis in systemic sclerosis.
Title: Involvement of Disabled-2 on skin fibrosis in systemic sclerosis.
Dab2 deficiency in myeloid cells promotes inflammation in livers and atherosclerotic plaques in an Ldl receptor knockout mouse model of atherosclerosis.
Title: Deficiency of Dab2 (Disabled Homolog 2) in Myeloid Cells Exacerbates Inflammation in Liver and Atherosclerotic Plaques in LDLR (Low-Density Lipoprotein Receptor)-Null Mice-Brief Report.
we found that knockdown of Dab2 reduced the uptake of VEGF in LSECs, furthermore blocking VEGF-mediated LSEC dedifferentiation and angiogenesis
Title: Proteomic Analysis Reveals Dab2 Mediated Receptor Endocytosis Promotes Liver Sinusoidal Endothelial Cell Dedifferentiation.
Suppression of Dab2 resulted in increased proliferation, loss of contact inhibition, morphological dysplasia, and resistance to oncogene-induced senescence - all factors that can sensitize ovarian surface epithelium to transformation.
Title: 17β-Estradiol sensitizes ovarian surface epithelium to transformation by suppressing Disabled-2 expression.
Putative causal genes were enriched for proximal tubule expression and endolysosomal function, where DAB2, an adaptor protein in the TGF-b pathway, formed a central node. Functional experiments confirmed that reducing Dab2 expression in renal tubules protected mice from Chronic kidney disease.
Title: Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease.
miR149 was able to target Dab2 and promote the cardiac differentiation of mouse MSCs in vitro, which depended upon the Wnt/betacatenin signaling pathway.
Title: miR‑149 promotes the myocardial differentiation of mouse bone marrow stem cells by targeting Dab2.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:225286

AI957090 (e-PCR)
- UniSTS:165920

SGC34180 (e-PCR)
- UniSTS:63792

Dab2 (e-PCR), detects polymorphism
- UniSTS:480310

Dab2 (e-PCR), detects polymorphism
- UniSTS:480311

Dab2 (e-PCR), detects polymorphism
- UniSTS:472892

Dab2 (e-PCR), detects polymorphism
- UniSTS:545923

AA960054 (e-PCR)
- UniSTS:160435

RH125668 (e-PCR)
- UniSTS:142027

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	IDA Inferred from Direct Assay more info	PubMed
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables cargo receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cargo receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables cargo receptor activity	ISO Inferred from Sequence Orthology more info
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables clathrin adaptor activity	ISO Inferred from Sequence Orthology more info
enables clathrin binding	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
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
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin coat assembly	ISO Inferred from Sequence Orthology more info
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
acts_upstream_of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in leading edge cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in myeloid cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of androgen receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein binding	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Wnt signaling pathway, planar cell polarity pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of aldosterone biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of aldosterone secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of clathrin-dependent endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of early endosome to late endosome transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of endocytosis	ISO Inferred from Sequence Orthology more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor internalization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription elongation 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
acts_upstream_of_or_within receptor-mediated endocytosis	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within renal protein absorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to steroid hormone	ISO Inferred from Sequence Orthology more info
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of clathrin coat of coated pit	IDA Inferred from Direct Assay more info	PubMed
is_active_in clathrin-coated pit	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated pit	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: disabled homolog 2

Names: adaptor molecule disabled-2; differentially expressed in ovarian carcinoma 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.

mRNA and Protein(s)

NM_001008702.2 → NP_001008702.1 disabled homolog 2 isoform b

See identical proteins and their annotated locations for NP_001008702.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC105324, AK162851, AK165519, BB848282

Consensus CDS

CCDS37030.1

UniProtKB/TrEMBL

Q3TN55, Q3TRE6

Related

ENSMUSP00000077166.7, ENSMUST00000078019.13

Conserved Domains (1) summary

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001037905.3 → NP_001032994.1 disabled homolog 2 isoform b

See identical proteins and their annotated locations for NP_001032994.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AC105324, AK162851, AK165519, BB856968, CB952492

Consensus CDS

CCDS37030.1

UniProtKB/TrEMBL

Q3TN55, Q3TRE6

Related

ENSMUSP00000106291.3, ENSMUST00000110663.9

Conserved Domains (1) summary

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001102400.1 → NP_001095870.1 disabled homolog 2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC105324, AK162744, BB856968, CB952492

Consensus CDS

CCDS49576.1

UniProtKB/TrEMBL

E9PX84, Q3TRI2

Related

ENSMUSP00000124589.2, ENSMUST00000161812.8

Conserved Domains (1) summary

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_001310446.1 → NP_001297375.1 disabled homolog 2 isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks an internal in-frame exon compared to variant 1. The resulting isoform (d) is shorter missing an internal protein segment compared to isoform a.

Source sequence(s)

AC105324, AK162744, AK162851, AK165519, AK168375, BB856968, BG072606, CD348957, CD741855

Consensus CDS

CCDS79357.1

UniProtKB/Swiss-Prot

P98078, Q3U3K1, Q91W56, Q923E1

UniProtKB/TrEMBL

E9QL31

Related

ENSMUSP00000106292.3, ENSMUST00000110664.9

Conserved Domains (1) summary

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
NM_023118.5 → NP_075607.2 disabled homolog 2 isoform a

See identical proteins and their annotated locations for NP_075607.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC105324, AK162851, AK165519, BB856968, CB598046, CB952492, CD348957

Consensus CDS

CCDS37029.1

UniProtKB/Swiss-Prot

P98078, Q3U3K1, Q91W56, Q923E1

UniProtKB/TrEMBL

A0A0R4J104

Related

ENSMUSP00000079689.6, ENSMUST00000080880.12

Conserved Domains (2) summary

PHA03247
Location:288 → 608

PHA03247; large tegument protein UL36; Provisional

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

6329269..6470196

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011245324.1 → XP_011243626.1 disabled homolog 2 isoform X1

See identical proteins and their annotated locations for XP_011243626.1

UniProtKB/Swiss-Prot

P98078, Q3U3K1, Q91W56, Q923E1

UniProtKB/TrEMBL

A0A0R4J104

Conserved Domains (2) summary

PHA03247
Location:288 → 608

PHA03247; large tegument protein UL36; Provisional

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_030248313.2 → XP_030104173.1 disabled homolog 2 isoform X3

UniProtKB/TrEMBL

E0CXT5, Q9DCE6

Related

ENSMUSP00000124478.2, ENSMUST00000161040.8

Conserved Domains (1) summary

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_017316424.3 → XP_017171913.1 disabled homolog 2 isoform X1

UniProtKB/Swiss-Prot

P98078, Q3U3K1, Q91W56, Q923E1

UniProtKB/TrEMBL

A0A0R4J104

Conserved Domains (2) summary

PHA03247
Location:288 → 608

PHA03247; large tegument protein UL36; Provisional

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain
XM_030248312.2 → XP_030104172.1 disabled homolog 2 isoform X2

UniProtKB/TrEMBL

Q3TN55, Q3TRE6

Conserved Domains (1) summary

cd01215
Location:35 → 171

PTB_Dab; Disabled (Dab) Phosphotyrosine-binding domain