Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
153090
Gene name Gene Name - the full gene name approved by the HGNC.
DAB2 interacting protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DAB2IP
Synonyms (NCBI Gene) Gene synonyms aliases
AF9Q34, AIP-1, AIP1, DIP1/2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.2
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003041 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT003041 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT003041 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT003041 hsa-miR-338-3p qRT-PCR, Western blot 18684991
MIRT003041 hsa-miR-338-3p qRT-PCR, Western blot 18684991
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15310755
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20154697
GO:0001525 Process Angiogenesis IEA
GO:0002376 Process Immune system process IEA
GO:0005096 Function GTPase activator activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609205 17294 ENSG00000136848
Protein
UniProt ID Q5VWQ8
Protein name Disabled homolog 2-interacting protein (DAB2 interaction protein) (DAB2-interacting protein) (ASK-interacting protein 1) (AIP-1) (DOC-2/DAB-2 interactive protein)
Protein function Functions as a scaffold protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Involved in several processes such as innate immune response, inflammation and cell growth inhibition, apoptosis
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 213 313 C2 domain Domain
PF00616 RasGAP 392 470 GTPase-activator protein for Ras-like GTPase Family
PF00616 RasGAP 460 563 GTPase-activator protein for Ras-like GTPase Family
PF12004 DUF3498 646 1159 Domain of unknown function (DUF3498) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in endothelial and vascular smooth muscle cells (VSMCs). Expressed in prostate epithelial but poorly in prostate cancer cells. Poorly expressed in medulloblastoma cells compared to cerebellar precursor proliferating progenito
Sequence
MSAGGSARKSTGRSSYYYRLLRRPRLQRQRSRSRSRTRPARESPQERPGSRRSLPGSLSE
KSPSMEPSAATPFRVTGFLSRRLKGSIKRTKSQPKLDRNHSFRHILPGFRSAAAAAADNE
RSHLMPRLKESRSHESLLSPSSAVEALDLSMEEEVVIKPVHSSILGQDYCFEVTTSSGSK
CFSCRSAAERDKWMENLRRAVHPNKDNSRRVEHILKLWVIEAKDLPAKKKYLCELCLDDV
LYARTTGKLKTDNVFWGEHFEFHNLPPLRTVTVHLYRETDKKKKKERNSYLGLVSLPAAS
VAGRQFVEKWYPV
VTPNPKGGKGPGPMIRIKARYQTITILPMEMYKEFAEHITNHYLGLC
AALEPILSAKTKEEMASALVHILQSTGKVKDFLTDLMMSEVDRCGDNEHLIFRENTLATK
AIEEYLKLVGQKYLQDALGEFIKALYESDENCEVDPSKC
SAADLPEHQGNLKMCCELAFC
KIINSYCVFPRELKEVFASWRQECSSRGRPDISERLISASLFLRFLCPAIMSPSLFNLLQ
EYPDDRTARTLTLIAKVTQNLAN
FAKFGSKEEYMSFMNQFLEHEWTNMQRFLLEISNPET
LSNTAGFEGYIDLGRELSSLHSLLWEAVSQLEQSIVSKLGPLPRILRDVHTALSTPGSGQ
LPGTNDLASTPGSGSSSISAGLQKMVIENDLSGLIDFTRLPSPTPENKDLFFVTRSSGVQ
PSPARSSSYSEANEPDLQMANGGKSLSMVDLQDARTLDGEAGSPAGPDVLPTDGQAAAAQ
LVAGWPARATPVNLAGLATVRRAGQTPTTPGTSEGAPGRPQLLAPLSFQNPVYQMAAGLP
LSPRGLGDSGSEGHSSLSSHSNSEELAAAAKLGSFSTAAEELARRPGELARRQMSLTEKG
GQPTVPRQNSAGPQRRIDQPPPPPPPPPPAPRGRTPPNLLSTLQYPRPSSGTLASASPDW
VGPSTRLRQQSSSSKGDSPELKPRAVHKQGPSPVSPNALDRTAAWLLTMNAQLLEDEGLG
PDPPHRDRLRSKDELSQAEKDLAVLQDKLRISTKKLEEYETLFKCQEETTQKLVLEYQAR
LEEGEERLRRQQEDKDIQMKGIISRLMSVEEELKKDHAEMQAAVDSKQKIIDAQEKRIAS
LDAANARLMSALTQLKERY
SMQARNGISPTNPTKLQITENGEFRNSSNC
Sequence length 1189
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Apoptosis
TNF signaling pathway
  Regulation of RAS by GAPs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Keratoconus keratoconus N/A N/A ClinVar
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33083483, 36928034
Aortic Aneurysm Abdominal Associate 20622881, 37893562
Aortic Aneurysm Abdominal Stimulate 31028191
Aortic Aneurysm Familial Abdominal 1 Associate 20622881
Aortic Dissection Associate 33083483
Arrhythmogenic Right Ventricular Dysplasia Associate 29221435
Breast Neoplasms Associate 25287138, 28167613
Cap Myopathy Associate 22077888
Carcinogenesis Associate 24912918, 27036023, 34775484
Carcinoma Hepatocellular Associate 21067840, 27768594, 38015711