Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10443
Gene name Gene Name - the full gene name approved by the HGNC.
NEDD4 binding protein 2 like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
N4BP2L2
Synonyms (NCBI Gene) Gene synonyms aliases
92M18.3, CG005, CG016, PFAAP5
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1158061584 T>-,TT Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT042159 hsa-miR-484 CLASH 23622248
MIRT037873 hsa-miR-455-3p CLASH 23622248
MIRT681848 hsa-miR-106a-5p HITS-CLIP 23706177
MIRT681847 hsa-miR-106b-5p HITS-CLIP 23706177
MIRT681846 hsa-miR-17-5p HITS-CLIP 23706177
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 IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001701 Process In utero embryonic development IEA
GO:0001824 Process Blastocyst development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615788 26916 ENSG00000244754
Protein
UniProt ID Q92802
Protein name NEDD4-binding protein 2-like 2 (Phosphonoformate immuno-associated protein 5)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13671 AAA_33 404 537 Domain
Sequence
MSYGEIEGKFLGPREEVTSEPRCKKLKSTTESYVFHNHSNADFHRIQEKTGNDWVPVTII
DVRGHSYLQENKIKTTDLHRPLHDEMPGNRPDVIESIDSQVLQEARPPLVSADDEIYSTS
KAFIGPIYKPPEKKKRNEGRNEAHVLNGINDRGGQKEKQKFNSEKSEIDNELFQFYKEIE
ELEKEKDGFENSCKESEPSQEQFVPFYEGHNNGLLKPDEEKKDLSNKAMPSHCDYQQNLG
NEPDKYPCNGQVIPTFCDTSFTSFRPEWQSVYPFIVPYGPPLPSLNYHLNIQRFSGPPNP
PSNIFQAQDDSQIQNGYYVNNCHVNWNCMTFDQNNEYTDCSENRSSVHPSGNGCSMQDRY
VSNGFCEVRERCWKDHCMDKHNGTDRFVNQQFQEEKLNKLQKLLILLRGLPGSGKTTLSR
ILLGQNRDGIVFSTDDYFHHQDGYRYNVNQLGDAHDWNQNRAKQAIDQGRSPVIIDNTNI
QAWEMKPYVEVAIGKGYRVEFHEPETWWKFDPEELEKRNKHGVSRKKIAQMLDRYEY
QMS
ISIVMNSVEPSHKSTQRPPPPQGRQRWGGSLGSHNRVCVTNNH
Sequence length 583
Interactions View interactions
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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
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 11768609
Colorectal Neoplasms Associate 11768609
Glomerulonephritis Membranous Associate 37974210
Heart Failure Associate 32852391
Systemic Inflammatory Response Syndrome Associate 32852391