Gene id |
10443 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
N4BP2L2 Gene UCSC Ensembl |
Aliases |
92M18.3, CG005, CG016, PFAAP5 |
Gene name |
NEDD4 binding protein 2 like 2 |
Alternate names |
NEDD4-binding protein 2-like 2, phosphonoformate immuno-associated protein 5, protein from BRCA2 region, |
Gene location |
13q13.1 (32542709: 32432416) Exons: 6 NC_000013.11
|
OMIM |
615788 |
Protein Summary
|
Protein general information
| Q92802
Name: NEDD4 binding protein 2 like 2 (Phosphonoformate immuno associated protein 5)
Length: 583 Mass: 67459
|
Sequence |
MSYGEIEGKFLGPREEVTSEPRCKKLKSTTESYVFHNHSNADFHRIQEKTGNDWVPVTIIDVRGHSYLQENKIKT TDLHRPLHDEMPGNRPDVIESIDSQVLQEARPPLVSADDEIYSTSKAFIGPIYKPPEKKKRNEGRNEAHVLNGIN DRGGQKEKQKFNSEKSEIDNELFQFYKEIEELEKEKDGFENSCKESEPSQEQFVPFYEGHNNGLLKPDEEKKDLS NKAMPSHCDYQQNLGNEPDKYPCNGQVIPTFCDTSFTSFRPEWQSVYPFIVPYGPPLPSLNYHLNIQRFSGPPNP PSNIFQAQDDSQIQNGYYVNNCHVNWNCMTFDQNNEYTDCSENRSSVHPSGNGCSMQDRYVSNGFCEVRERCWKD HCMDKHNGTDRFVNQQFQEEKLNKLQKLLILLRGLPGSGKTTLSRILLGQNRDGIVFSTDDYFHHQDGYRYNVNQ LGDAHDWNQNRAKQAIDQGRSPVIIDNTNIQAWEMKPYVEVAIGKGYRVEFHEPETWWKFDPEELEKRNKHGVSR KKIAQMLDRYEYQMSISIVMNSVEPSHKSTQRPPPPQGRQRWGGSLGSHNRVCVTNNH
|
Structural information |
|
Other Databases |
GeneCards: N4BP2L2  Malacards: N4BP2L2 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0017053 |
transcription repressor c omplex
|
IDA |
cellular component |
GO:0019899 |
enzyme binding
|
IPI |
molecular function |
GO:0003714 |
transcription corepressor activity
|
ISS |
molecular function |
GO:0003674 |
molecular_function
|
ND |
molecular function |
GO:0070062 |
extracellular exosome
|
HDA |
cellular component |
GO:1902037 |
negative regulation of he matopoietic stem cell dif ferentiation
|
IMP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0000122 |
negative regulation of tr anscription by RNA polyme rase II
|
ISS |
biological process |
GO:1902035 |
positive regulation of he matopoietic stem cell pro liferation
|
IMP |
biological process |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 21412036 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
21412036 |
Cryptorchi dism
|
|
|
23 (4 controls, 19 cases)
|
Male infertility |
GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 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 |
|