DAB2IP (DAB2 interacting protein)

2003-08-01   Anne RM von Bergh  

Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

Identity

HGNC
DAB2IP
LOCATION
9q33.2
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
153090
ALIAS
AF9Q34,AIP-1,AIP1,DIP1/2
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

14 exons stretched over an area of about 84 kb. Exon 1, a noncoding exon, has (at least) three variants.

Transcription

in a centromere to telomere direction 5192 bp mRNA; 2903 bp open reading frame.

Proteins

Description

The AF9q34 protein contains a GAP related domain (GRD), an FLR-motif, a Pleckstrin homology (PH) domain and a calcium/phospho-lipid-binding C2/CALB domain; 967 amino acids.

Expression

Expression in all human tissues with a relatively low level of expression in testis, placenta, spleen and peripheral blood leukocytes.

Function

RasGAPs negatively regulate the activity of Ras proteins that modulate diverse cellular processes by cycling between the inactive GDP-bound and active GTP-bound state. DAB2 interacting protein.

Homology

Homologous to human nGAP (or RAS protein activator like 2 (RASAL2)).

Implicated in

Entity name
t(9;11)(q34;q23) AML --> KMT2A- DAB2IP
Note
Another t(9;11)(q34;q23) AML has been reported with involvement of MLL-FBP17.
Disease
Only one case to date, a 62 yr old male patient with Acute Myeloid Leukemia (M5).
Cytogenetics
The case was 46, XY, t(9;11)(q34;q23) and in 40% of the metaphases additional chromosomes 8 and 13 were observed.
Hybrid gene
5 MLL fused at exon 9 with the 3 end of AFq34.
Atlas Image
Schematic representation of MLL, AF9q34, and the putative MLL-AF9q34 fusion protein.
Domains in MLL and AF9q34 are shaded: AT, AT-hook DNA binding motifs; SNL1 and SNL2, speckled nuclear localisation signals 1 and 2; CxxC, cysteine rich motif homologous to DNA methyltransferase (MT); PHD, plant homeodomain fingers; FYRN, FYRN domain; FYRC. FYRC domain; SET, SET domain; PH, Pleckstrin Homology Domain; GRD, GAP Related Domain. Arrows indicate the breakpoint (bp) sites in MLL and AF9q34.
Fusion protein
The MLL-AF9q34 protein includes the entire GAP related domain (GRD) and the C2/CALB domain, but the PH domain is disrupted by the breakpoint in AF9q34.

Bibliography

Pubmed IDLast YearTitleAuthors
119449902002Differential regulation of the human gene DAB2IP in normal and malignant prostatic epithelia: cloning and characterization.Chen H et al

Other Information

Locus ID:

NCBI: 153090
MIM: 609205
HGNC: 17294
Ensembl: ENSG00000136848

Variants:

dbSNP: 153090
ClinVar: 153090
TCGA: ENSG00000136848
COSMIC: DAB2IP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136848ENST00000259371Q5VWQ8
ENSG00000136848ENST00000309989Q5VWQ8
ENSG00000136848ENST00000373782H0Y3A3
ENSG00000136848ENST00000394340F8WA47
ENSG00000136848ENST00000408936Q5VWQ8
ENSG00000136848ENST00000436835F6R503
ENSG00000136848ENST00000489314A0A3B3ITC7
ENSG00000136848ENST00000648444A0A3B3ITG3
ENSG00000136848ENST00000648693A0A3B3IUB7

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
ApoptosisKEGGhsa04210
TNF signaling pathwayKEGGhsa04668
TNF signaling pathwayKEGGko04668
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Regulation of RAS by GAPsREACTOMER-HSA-5658442
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
Signaling by PTK6REACTOMER-HSA-8848021
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinasesREACTOMER-HSA-8849471
RET signalingREACTOMER-HSA-8853659
Oncogenic MAPK signalingREACTOMER-HSA-6802957
Signaling by RAS mutantsREACTOMER-HSA-6802949

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27939EZH2GeneMultilinkAnnotationassociated24491799

References

Pubmed IDYearTitleCitations
369393852023DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer.3
378804582023DAB2IP stabilizes p27(Kip1) via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma.3
380157112023circSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis.0
369393852023DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer.3
378804582023DAB2IP stabilizes p27(Kip1) via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma.3
380157112023circSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis.0
351508092022DAB2IP suppresses tumor malignancy by inhibiting GRP75-driven p53 ubiquitination in colon cancer.6
354528212022DAB2IP regulates intratumoral testosterone synthesis and CRPC tumor growth by ETS1/AKR1C3 signaling.2
355902922022DAB2IP down-regulates HSP90AA1 to inhibit the malignant biological behaviors of colorectal cancer.13
357122572022ASK1-Interacting Protein 1 Acts as a Novel Predictor of Type 2 Diabetes.2
359852372022Hypoxia-driven miR-1307-3p promotes hepatocellular carcinoma cell proliferation and invasion by modulating DAB2 interacting protein.4
365364852022DAB2IP attenuates chemoresistance of triple-negative breast cancer through sequestration of RAC1 to prevent β-catenin nuclear accumulation.4
351508092022DAB2IP suppresses tumor malignancy by inhibiting GRP75-driven p53 ubiquitination in colon cancer.6
354528212022DAB2IP regulates intratumoral testosterone synthesis and CRPC tumor growth by ETS1/AKR1C3 signaling.2
355902922022DAB2IP down-regulates HSP90AA1 to inhibit the malignant biological behaviors of colorectal cancer.13

Citation

Anne RM von Bergh

DAB2IP (DAB2 interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/316/js/lib/cancer-prone-explorer/js/web-card-gene.js