Gene Gene information from NCBI Gene database.
Entrez ID 55803
Gene name ArfGAP with dual PH domains 2
Gene symbol ADAP2
Synonyms (NCBI Gene)
CENTA2HSA272195cent-b
Chromosome 17
Chromosome location 17q11.2
Summary The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosph
miRNA miRNA information provided by mirtarbase database.
81
miRTarBase ID miRNA Experiments Reference
MIRT029470 hsa-miR-26b-5p Microarray 19088304
MIRT047793 hsa-miR-30d-5p CLASH 23622248
MIRT037704 hsa-miR-744-5p CLASH 23622248
MIRT710677 hsa-miR-4438 HITS-CLIP 19536157
MIRT710676 hsa-miR-7153-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 20098747
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding ISS 12018390
GO:0005547 Function Phosphatidylinositol-3,4,5-trisphosphate binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608635 16487 ENSG00000184060
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NPF8
Protein name Arf-GAP with dual PH domain-containing protein 2 (Centaurin-alpha-2) (Cnt-a2)
Protein function GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01412 ArfGap 8 126 Putative GTPase activating protein for Arf Domain
PF00169 PH 133 232 PH domain Domain
PF00169 PH 256 361 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta, spleen, kidney, skeletal muscle and adrenal gland. Weakly expressed in thyroid, liver, heart, lung, small intestine, peripheral blood leukocytes. Not detected in spinal cord, brain, stomach, trachea, colon
Sequence
Sequence length 381
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BENIGN THYROID GLAND NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 37794108 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 24711647
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 11468690 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 20844836
★☆☆☆☆
Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor BEFREE 20844836
★☆☆☆☆
Found in Text Mining only
neurofibroma Neurofibroma BEFREE 18850118
★☆☆☆☆
Found in Text Mining only
Neurofibromatosis 1 Neurofibromatosis LHGDN 14690521
★☆☆☆☆
Found in Text Mining only
Neurofibrosarcoma Neurofibrosarcoma Pubtator 20844836 Associate
★☆☆☆☆
Found in Text Mining only
NF1 Microdeletion Syndrome NF1 Microdeletion Syndrome BEFREE 24711647
★☆☆☆☆
Found in Text Mining only