DAB2IP DAB2 interacting protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAB2IPprovided by HGNC
Official Full Name: DAB2 interacting proteinprovided by HGNC
Primary source: HGNC:HGNC:17294
See related: Ensembl:ENSG00000136848 MIM:609205; AllianceGenome:HGNC:17294
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIP1; AIP-1; AF9Q34; DIP1/2
Summary: DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]
Expression: Ubiquitous expression in colon (RPKM 8.5), testis (RPKM 8.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (121567074..121785530)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (133763089..133981519)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (124329353..124547809)

Chromosome 9 - NC_000009.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology.
Title: DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology.
circSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis.
Title: circSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis.
DAB2IP stabilizes p27[Kip1] via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma.
Title: DAB2IP stabilizes p27(Kip1) via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma.
DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer.
Title: DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer.
DAB2IP attenuates chemoresistance of triple-negative breast cancer through sequestration of RAC1 to prevent beta-catenin nuclear accumulation.
Title: DAB2IP attenuates chemoresistance of triple-negative breast cancer through sequestration of RAC1 to prevent β-catenin nuclear accumulation.
Hypoxia-driven miR-1307-3p promotes hepatocellular carcinoma cell proliferation and invasion by modulating DAB2 interacting protein.
Title: Hypoxia-driven miR-1307-3p promotes hepatocellular carcinoma cell proliferation and invasion by modulating DAB2 interacting protein.
ASK1-Interacting Protein 1 Acts as a Novel Predictor of Type 2 Diabetes.
Title: ASK1-Interacting Protein 1 Acts as a Novel Predictor of Type 2 Diabetes.
DAB2IP regulates intratumoral testosterone synthesis and CRPC tumor growth by ETS1/AKR1C3 signaling.
Title: DAB2IP regulates intratumoral testosterone synthesis and CRPC tumor growth by ETS1/AKR1C3 signaling.
DAB2IP down-regulates HSP90AA1 to inhibit the malignant biological behaviors of colorectal cancer.
Title: DAB2IP down-regulates HSP90AA1 to inhibit the malignant biological behaviors of colorectal cancer.
DAB2IP suppresses tumor malignancy by inhibiting GRP75-driven p53 ubiquitination in colon cancer.
Title: DAB2IP suppresses tumor malignancy by inhibiting GRP75-driven p53 ubiquitination in colon cancer.

Submit: New GeneRIF Correction See all GeneRIFs (89)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of periodontal pathogen colonization. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_10012-10013:996678884:1 (e-PCR)
- UniSTS:267012

RH16168 (e-PCR)
- UniSTS:50704

D9S1927 (e-PCR)
- UniSTS:62740

SHGC-34367 (e-PCR)
- UniSTS:32536

D9S1019E (e-PCR)
- UniSTS:7797

RH48968 (e-PCR)
- UniSTS:65910

SHGC-149913 (e-PCR)
- UniSTS:177299

SHGC-155351 (e-PCR)
- UniSTS:184988

SHGC-155769 (e-PCR)
- UniSTS:184997

RH16163 (e-PCR)
- UniSTS:74666

D9S1685 (e-PCR)
- UniSTS:81368

D9S1034E (e-PCR)
- UniSTS:151261

D9S123 (e-PCR)
- UniSTS:147170

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables SH3 domain binding	IDA Inferred from Direct Assay more info	PubMed
NOT enables Toll-like receptor 4 binding	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables death receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables mitogen-activated protein kinase kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables mitogen-activated protein kinase kinase kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol 3-kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol 3-kinase regulatory subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 2A binding	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables vascular endothelial growth factor receptor 2 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell motility involved in cerebral cortex radial glia guided migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to epidermal growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to interleukin-1	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to unfolded protein	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to vascular endothelial growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to vascular endothelial growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in endothelial cell apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in layer formation in cerebral cortex	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of G0 to G1 transition	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Ras protein signal transduction	IC Inferred by Curator more info	PubMed
involved_in negative regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
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 population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial cell migration	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fibroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of toll-like receptor 4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular endothelial growth factor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of IRE1-mediated unfolded protein response	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JUN kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein serine/threonine kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of synapse maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of p38MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vascular endothelial growth factor receptor-2 signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of AIP1-IRE1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in cerebellar mossy fiber	ISS Inferred from Sequence or Structural Similarity more info
located_in climbing fiber	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in parallel fiber	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: disabled homolog 2-interacting protein

Names: ASK-interacting protein 1; ASK1-interacting protein 1; DAB2 interaction protein; DOC-2/DAB2 interactive protein; nGAP-like protein

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_001395010.1 → NP_001381939.1 disabled homolog 2-interacting protein isoform 3

Status: VALIDATED

Source sequence(s)

AL365274

Consensus CDS

CCDS94477.1

UniProtKB/Swiss-Prot

A6H8V2, A6NHI9, B0QZB1, G3XA90, Q5VWQ8, Q8TDL2, Q96SE1, Q9C0C0

Related

ENSP00000386183.3, ENST00000408936.8

Conserved Domains (4) summary

cd04013
Location:203 → 342

C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family

cd05136
Location:333 → 656

RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins

cd13376
Location:75 → 261

PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain

pfam12004
Location:646 → 1150

DUF3498; Domain of unknown function (DUF3498)
NM_032552.4 → NP_115941.2 disabled homolog 2-interacting protein isoform 1

See identical proteins and their annotated locations for NP_115941.2

Status: VALIDATED

Description

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

Source sequence(s)

AB051530, AL357936, BC037314, BM545676, BM546615

Consensus CDS

CCDS6833.2

UniProtKB/Swiss-Prot

Q5VWQ8

Related

ENSP00000259371.2, ENST00000259371.7

Conserved Domains (4) summary

cd04013
Location:175 → 314

C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family

cd05136
Location:305 → 628

RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins

cd13376
Location:47 → 233

PH_DAB2IP; DOC-2/Disabled homolog 2-interacting protein Pleckstrin homology (PH) domain

pfam12004
Location:618 → 1122

DUF3498; Domain of unknown function (DUF3498)
NM_138709.2 → NP_619723.1 disabled homolog 2-interacting protein isoform 2

See identical proteins and their annotated locations for NP_619723.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' terminal exon, initiates translation at a downstream start codon and contains a 3' terminal exon that extends past a splice site, compared to variant 1. It encodes isoform 2, which is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AY032952, DA373245

Consensus CDS

CCDS6832.1

UniProtKB/Swiss-Prot

Q5VWQ8

Related

ENSP00000310827.1, ENST00000309989.1

Conserved Domains (4) summary

cd04013
Location:79 → 218

C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family

cd05136
Location:209 → 532

RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins

pfam12004
Location:522 → 1026

DUF3498; Domain of unknown function (DUF3498)

cl17171
Location:1 → 137

PH-like; Pleckstrin homology-like domain