U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    DAB2IP DAB2 interacting protein [ Homo sapiens (human) ]

    Gene ID: 153090, updated on 4-Jan-2025

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DAB2IP in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20237 Neighboring gene high mobility group box 1 pseudogene 37 Neighboring gene Sharpr-MPRA regulatory region 14365 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124359845-124360812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124360813-124361778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124366827-124367614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124393797-124394545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124396647-124397309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124411655-124412490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124416949-124417448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124446578-124447078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124468887-124469686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124480397-124480994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124482472-124482999 Neighboring gene uncharacterized LOC105376257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124500148-124500924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124504941-124505640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124510791-124511314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:124514713-124515213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124516632-124517247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124517370-124517953 Neighboring gene Sharpr-MPRA regulatory region 3775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124543874-124544863 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:124552172-124552712 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:124556939-124557676 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:124558413-124559150 Neighboring gene uncharacterized LOC107987125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124573577-124574096 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:124578825-124579621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124589529-124590300 Neighboring gene tubulin tyrosine ligase like 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124650231-124650789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124659227-124659916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124688418-124688918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:124748015-124748516 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:124801206-124802405 Neighboring gene uncharacterized LOC124902262

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (21 hits/1261 screens)

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ39072, KIAA1743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 14-3-3 protein binding PubMed 
    enables GTPase activator activity  
    enables SH3 domain binding PubMed 
    NOT enables Toll-like receptor 4 binding PubMed 
    enables cadherin binding PubMed 
    enables death receptor binding PubMed 
    enables identical protein binding PubMed 
    enables kinase binding PubMed 
    enables mitogen-activated protein kinase kinase binding PubMed 
    enables mitogen-activated protein kinase kinase kinase binding PubMed 
    enables phosphatidylinositol 3-kinase binding PubMed 
    enables phosphatidylinositol 3-kinase regulatory subunit binding PubMed 
    enables phosphatidylinositol-3-phosphate binding PubMed 
    enables phosphatidylinositol-4-phosphate binding PubMed 
    enables protein binding PubMed 
    enables protein homodimerization activity PubMed 
    enables protein kinase binding PubMed 
    enables protein kinase binding PubMed 
    enables protein phosphatase 2A binding PubMed 
    enables protein serine/threonine kinase activator activity PubMed 
    enables protein-containing complex binding PubMed 
    enables signaling adaptor activity PubMed 
    enables vascular endothelial growth factor receptor 2 binding PubMed 
    Items 1 - 25 of 71
    Process Evidence Code Pubs
    involved_in angiogenesis  
    involved_in cell motility involved in cerebral cortex radial glia guided migration  
    involved_in cellular response to epidermal growth factor stimulus PubMed 
    involved_in cellular response to interleukin-1 PubMed 
    involved_in cellular response to lipopolysaccharide PubMed 
    involved_in cellular response to tumor necrosis factor PubMed 
    involved_in cellular response to unfolded protein PubMed 
    involved_in cellular response to vascular endothelial growth factor stimulus PubMed 
    involved_in cellular response to vascular endothelial growth factor stimulus  
    involved_in endothelial cell apoptotic process PubMed 
    involved_in extrinsic apoptotic signaling pathway via death domain receptors PubMed 
    involved_in inflammatory response  
    involved_in innate immune response  
    involved_in intracellular signal transduction PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress PubMed 
    involved_in layer formation in cerebral cortex  
    involved_in negative regulation of DNA-templated transcription PubMed 
    involved_in negative regulation of ERK1 and ERK2 cascade PubMed 
    involved_in negative regulation of G0 to G1 transition PubMed 
    involved_in negative regulation of GTPase activity PubMed 
    involved_in negative regulation of GTPase activity  
    involved_in negative regulation of MAP kinase activity PubMed 
    involved_in negative regulation of MAP kinase activity PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity PubMed 
    involved_in negative regulation of Ras protein signal transduction PubMed 
    involved_in negative regulation of angiogenesis PubMed 
    involved_in negative regulation of canonical NF-kappaB signal transduction PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway  
    involved_in negative regulation of cell population proliferation PubMed 
    involved_in negative regulation of endothelial cell migration PubMed 
    involved_in negative regulation of epidermal growth factor receptor signaling pathway PubMed 
    involved_in negative regulation of epithelial cell migration PubMed 
    involved_in negative regulation of epithelial cell migration PubMed 
    involved_in negative regulation of epithelial cell proliferation PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition PubMed 
    involved_in negative regulation of fibroblast proliferation  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in negative regulation of protein catabolic process PubMed 
    involved_in negative regulation of protein serine/threonine kinase activity PubMed 
    involved_in negative regulation of toll-like receptor 4 signaling pathway PubMed 
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in negative regulation of vascular endothelial growth factor receptor signaling pathway PubMed 
    involved_in negative regulation of vascular endothelial growth factor signaling pathway  
    involved_in neuron projection morphogenesis  
    involved_in positive regulation of IRE1-mediated unfolded protein response PubMed 
    involved_in positive regulation of JNK cascade PubMed 
    involved_in positive regulation of JUN kinase activity PubMed 
    involved_in positive regulation of MAPK cascade PubMed 
    involved_in positive regulation of apoptotic process PubMed 
    involved_in positive regulation of apoptotic signaling pathway PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction  
    involved_in positive regulation of dendrite development  
    involved_in positive regulation of neuron migration  
    involved_in positive regulation of neuron projection development  
    involved_in positive regulation of proteasomal protein catabolic process PubMed 
    involved_in positive regulation of protein catabolic process  
    involved_in positive regulation of protein serine/threonine kinase activity PubMed 
    involved_in positive regulation of protein-containing complex assembly PubMed 
    involved_in positive regulation of synapse maturation  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in protein catabolic process PubMed 
    involved_in regulation of GTPase activity  
    involved_in regulation of canonical NF-kappaB signal transduction  
    involved_in regulation of cell cycle PubMed 
    involved_in regulation of p38MAPK cascade  
    involved_in regulation of protein-containing complex assembly PubMed 
    involved_in tube formation PubMed 
    involved_in vascular endothelial growth factor receptor-2 signaling pathway  
    Items 1 - 25 of 71
    Component Evidence Code Pubs
    part_of AIP1-IRE1 complex PubMed 
    located_in axon  
    located_in cerebellar mossy fiber  
    located_in climbing fiber  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in dendrite  
    located_in endocytic vesicle PubMed 
    located_in neuronal cell body  
    located_in neuronal cell body membrane  
    located_in parallel fiber  
    located_in plasma membrane PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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)

    1. 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)
    2. 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)
    3. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      121567074..121785530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      133763089..133981519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Loading
    Loading
    External link. Please review our privacy policy.