Gene id |
55803 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
ADAP2 Gene UCSC Ensembl |
Aliases |
CENTA2, HSA272195, cent-b |
Gene name |
ArfGAP with dual PH domains 2 |
Alternate names |
arf-GAP with dual PH domain-containing protein 2, centaurin beta, centaurin-alpha 2 protein, |
Gene location |
17q11.2 (30921735: 30959397) Exons: 11 NC_000017.11
|
Gene summary(Entrez) |
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
|
OMIM |
608635 |
Protein Summary
|
Protein general information
| Q9NPF8
Name: Arf GAP with dual PH domain containing protein 2 (Centaurin alpha 2) (Cnt a2)
Length: 381 Mass: 44349
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 |
MGDRERNKKRLLELLRAPDTGNAHCADCGAADPDWASYKLGIFICLNCCGVHRNFPDISRVKSVRLDFWDDSIVE FMIHNGNLRVKAKFEARVPAFYYIPQANDCLVLKEQWIRAKYERREFMADGETISLPGNREGFLWKRGRDNSQFL RRKFVLLAREGLLKYFTKEQGKSPKAVISIKDLNATFQTEKIGHPHGLQITYRRDGHTRNLFVYHESGKEIVDWF NALRAARLQYLKMAFPELPESELVPFLTRNYLKQGFMEKTGPKQKEPFKKRWFALDCHERRLLYYKNPLDAFEQG QVFLGNKEQGYEAYEDLPKGIRGNRWKAGLTIVTPERRFVLTCPSEKEQQEWLESLRGVLSSPLTPLNRLTASTE SGRSSR
|
Structural information |
|
Other Databases |
GeneCards: ADAP2  Malacards: ADAP2 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005886 |
plasma membrane
|
IBA |
cellular component |
GO:0043231 |
intracellular membrane-bo unded organelle
|
IBA |
cellular component |
GO:1902936 |
phosphatidylinositol bisp hosphate binding
|
IEA |
molecular function |
GO:0005096 |
GTPase activator activity
|
IEA |
molecular function |
GO:0043547 |
positive regulation of GT Pase activity
|
IEA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0005096 |
GTPase activator activity
|
IEA |
molecular function |
GO:0048017 |
inositol lipid-mediated s ignaling
|
IDA |
biological process |
GO:0005886 |
plasma membrane
|
IDA |
cellular component |
GO:0005547 |
phosphatidylinositol-3,4, 5-trisphosphate binding
|
IDA |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0043533 |
inositol 1,3,4,5 tetrakis phosphate binding
|
IDA |
molecular function |
GO:0005886 |
plasma membrane
|
IDA |
cellular component |
GO:0005547 |
phosphatidylinositol-3,4, 5-trisphosphate binding
|
IDA |
molecular function |
GO:0005740 |
mitochondrial envelope
|
ISS |
cellular component |
GO:0043325 |
phosphatidylinositol-3,4- bisphosphate binding
|
ISS |
molecular function |
GO:0030674 |
protein-macromolecule ada ptor activity
|
NAS |
molecular function |
GO:0007507 |
heart development
|
IEP |
biological process |
GO:0005546 |
phosphatidylinositol-4,5- bisphosphate binding
|
ISS |
molecular function |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|