Gene Gene information from NCBI Gene database.
Entrez ID 10443
Gene name NEDD4 binding protein 2 like 2
Gene symbol N4BP2L2
Synonyms (NCBI Gene)
92M18.3CG005CG016PFAAP5
Chromosome 13
Chromosome location 13q13.1
SNPs SNP information provided by dbSNP.
1
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.
156
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615788 26916 ENSG00000244754
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature Pathogenic rs1158061584 RCV000736213
Associations from Text MiningDisease 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