DAB2IP (DAB2 interacting protein)
2003-08-01 Anne RM von Bergh AffiliationAfdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands
Identity
HGNC
LOCATION
9q33.2
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
AF9Q34,AIP-1,AIP1,DIP1/2
FUSION GENES
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
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.
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11944990 | 2002 | Differential 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
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA27939 | EZH2 | Gene | MultilinkAnnotation | associated | 24491799 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36939385 | 2023 | DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer. | 3 |
| 37880458 | 2023 | DAB2IP stabilizes p27(Kip1) via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma. | 3 |
| 38015711 | 2023 | circSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis. | 0 |
| 36939385 | 2023 | DAB2IP Is a Bifunctional Tumor Suppressor That Regulates Wild-Type RAS and Inflammatory Cascades in KRAS Mutant Colon Cancer. | 3 |
| 37880458 | 2023 | DAB2IP stabilizes p27(Kip1) via suppressing PI3K/AKT signaling in clear cell renal cell carcinoma. | 3 |
| 38015711 | 2023 | circSLCO1B7 suppresses the malignant progression of hepatocellular carcinoma via the miR-556-3p/DAB2IP axis. | 0 |
| 35150809 | 2022 | DAB2IP suppresses tumor malignancy by inhibiting GRP75-driven p53 ubiquitination in colon cancer. | 6 |
| 35452821 | 2022 | DAB2IP regulates intratumoral testosterone synthesis and CRPC tumor growth by ETS1/AKR1C3 signaling. | 2 |
| 35590292 | 2022 | DAB2IP down-regulates HSP90AA1 to inhibit the malignant biological behaviors of colorectal cancer. | 13 |
| 35712257 | 2022 | ASK1-Interacting Protein 1 Acts as a Novel Predictor of Type 2 Diabetes. | 2 |
| 35985237 | 2022 | Hypoxia-driven miR-1307-3p promotes hepatocellular carcinoma cell proliferation and invasion by modulating DAB2 interacting protein. | 4 |
| 36536485 | 2022 | DAB2IP attenuates chemoresistance of triple-negative breast cancer through sequestration of RAC1 to prevent β-catenin nuclear accumulation. | 4 |
| 35150809 | 2022 | DAB2IP suppresses tumor malignancy by inhibiting GRP75-driven p53 ubiquitination in colon cancer. | 6 |
| 35452821 | 2022 | DAB2IP regulates intratumoral testosterone synthesis and CRPC tumor growth by ETS1/AKR1C3 signaling. | 2 |
| 35590292 | 2022 | DAB2IP 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/dab2ip-(dab2-interacting-protein)
