Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1158061584	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

156

Show/Hide all (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
MIRT681845	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT681844	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT681843	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT681842	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT681841	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT681840	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT681839	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT681838	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT681837	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT681836	hsa-miR-302e	HITS-CLIP	23706177
MIRT681835	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT681834	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT681833	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT681832	hsa-miR-520b	HITS-CLIP	23706177
MIRT681831	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT681830	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT681829	hsa-miR-520e	HITS-CLIP	23706177
MIRT681828	hsa-miR-552-3p	HITS-CLIP	23706177
MIRT681827	hsa-miR-449b-3p	HITS-CLIP	23706177
MIRT681826	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT681825	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT681824	hsa-miR-520g-3p	HITS-CLIP	23706177
MIRT681823	hsa-miR-520h	HITS-CLIP	23706177
MIRT681822	hsa-miR-3934-5p	HITS-CLIP	23706177
MIRT681821	hsa-miR-186-3p	HITS-CLIP	23706177
MIRT681820	hsa-miR-150-5p	HITS-CLIP	23706177
MIRT681819	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT681818	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT681817	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT681816	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT681815	hsa-miR-4694-5p	HITS-CLIP	23706177
MIRT681814	hsa-miR-3152-3p	HITS-CLIP	23706177
MIRT681813	hsa-miR-5095	HITS-CLIP	23706177
MIRT681812	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT681811	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT518887	hsa-miR-500b-3p	PAR-CLIP	23446348
MIRT518886	hsa-miR-29a-5p	PAR-CLIP	23446348
MIRT518885	hsa-miR-3149	PAR-CLIP	23446348
MIRT681848	hsa-miR-106a-5p	HITS-CLIP	23706177
MIRT681847	hsa-miR-106b-5p	HITS-CLIP	23706177
MIRT681846	hsa-miR-17-5p	HITS-CLIP	23706177
MIRT681845	hsa-miR-20a-5p	HITS-CLIP	23706177
MIRT681844	hsa-miR-20b-5p	HITS-CLIP	23706177
MIRT681843	hsa-miR-519d-3p	HITS-CLIP	23706177
MIRT681842	hsa-miR-526b-3p	HITS-CLIP	23706177
MIRT681841	hsa-miR-93-5p	HITS-CLIP	23706177
MIRT681840	hsa-miR-302a-3p	HITS-CLIP	23706177
MIRT681839	hsa-miR-302b-3p	HITS-CLIP	23706177
MIRT681838	hsa-miR-302c-3p	HITS-CLIP	23706177
MIRT681837	hsa-miR-302d-3p	HITS-CLIP	23706177
MIRT681836	hsa-miR-302e	HITS-CLIP	23706177
MIRT681835	hsa-miR-372-3p	HITS-CLIP	23706177
MIRT681834	hsa-miR-373-3p	HITS-CLIP	23706177
MIRT681833	hsa-miR-520a-3p	HITS-CLIP	23706177
MIRT681832	hsa-miR-520b	HITS-CLIP	23706177
MIRT681831	hsa-miR-520c-3p	HITS-CLIP	23706177
MIRT681830	hsa-miR-520d-3p	HITS-CLIP	23706177
MIRT681829	hsa-miR-520e	HITS-CLIP	23706177
MIRT681828	hsa-miR-552-3p	HITS-CLIP	23706177
MIRT681827	hsa-miR-449b-3p	HITS-CLIP	23706177
MIRT681826	hsa-miR-512-3p	HITS-CLIP	23706177
MIRT681825	hsa-miR-6504-3p	HITS-CLIP	23706177
MIRT681824	hsa-miR-520g-3p	HITS-CLIP	23706177
MIRT681823	hsa-miR-520h	HITS-CLIP	23706177
MIRT681822	hsa-miR-3934-5p	HITS-CLIP	23706177
MIRT681821	hsa-miR-186-3p	HITS-CLIP	23706177
MIRT681820	hsa-miR-150-5p	HITS-CLIP	23706177
MIRT681819	hsa-miR-619-5p	HITS-CLIP	23706177
MIRT681818	hsa-miR-6506-5p	HITS-CLIP	23706177
MIRT681817	hsa-miR-4731-5p	HITS-CLIP	23706177
MIRT681816	hsa-miR-5589-5p	HITS-CLIP	23706177
MIRT681815	hsa-miR-4694-5p	HITS-CLIP	23706177
MIRT681814	hsa-miR-3152-3p	HITS-CLIP	23706177
MIRT681813	hsa-miR-5095	HITS-CLIP	23706177
MIRT681812	hsa-miR-7151-3p	HITS-CLIP	23706177
MIRT681811	hsa-miR-5089-5p	HITS-CLIP	23706177
MIRT518887	hsa-miR-500b-3p	PAR-CLIP	23446348
MIRT518886	hsa-miR-29a-5p	PAR-CLIP	23446348
MIRT518885	hsa-miR-3149	PAR-CLIP	23446348
MIRT1171104	hsa-miR-1252	CLIP-seq
MIRT1171105	hsa-miR-1273f	CLIP-seq
MIRT1171106	hsa-miR-1321	CLIP-seq
MIRT1171107	hsa-miR-1537	CLIP-seq
MIRT1171108	hsa-miR-188-5p	CLIP-seq
MIRT1171109	hsa-miR-196a	CLIP-seq
MIRT1171110	hsa-miR-196b	CLIP-seq
MIRT1171111	hsa-miR-299-3p	CLIP-seq
MIRT1171112	hsa-miR-31	CLIP-seq
MIRT1171113	hsa-miR-3128	CLIP-seq
MIRT1171114	hsa-miR-3148	CLIP-seq
MIRT1171115	hsa-miR-3151	CLIP-seq
MIRT1171116	hsa-miR-3162-5p	CLIP-seq
MIRT1171117	hsa-miR-3170	CLIP-seq
MIRT1171118	hsa-miR-34b	CLIP-seq
MIRT1171119	hsa-miR-3606	CLIP-seq
MIRT1171120	hsa-miR-4447	CLIP-seq
MIRT1171121	hsa-miR-4472	CLIP-seq
MIRT1171122	hsa-miR-4477b	CLIP-seq
MIRT1171123	hsa-miR-4511	CLIP-seq
MIRT1171124	hsa-miR-4739	CLIP-seq
MIRT1171125	hsa-miR-4756-5p	CLIP-seq
MIRT1171126	hsa-miR-491-5p	CLIP-seq
MIRT1171127	hsa-miR-548ac	CLIP-seq
MIRT1171128	hsa-miR-548ag	CLIP-seq
MIRT1171129	hsa-miR-548ai	CLIP-seq
MIRT1171130	hsa-miR-548d-3p	CLIP-seq
MIRT1171131	hsa-miR-548z	CLIP-seq
MIRT2049348	hsa-miR-377	CLIP-seq
MIRT2049349	hsa-miR-4646-5p	CLIP-seq
MIRT2049350	hsa-miR-4775	CLIP-seq
MIRT2049351	hsa-miR-590-3p	CLIP-seq
MIRT2454764	hsa-miR-1297	CLIP-seq
MIRT2454765	hsa-miR-1305	CLIP-seq
MIRT2454766	hsa-miR-130a	CLIP-seq
MIRT2454767	hsa-miR-130b	CLIP-seq
MIRT2454768	hsa-miR-26a	CLIP-seq
MIRT2454769	hsa-miR-26b	CLIP-seq
MIRT2454770	hsa-miR-301a	CLIP-seq
MIRT2454771	hsa-miR-301b	CLIP-seq
MIRT2454772	hsa-miR-3065-5p	CLIP-seq
MIRT2454773	hsa-miR-3666	CLIP-seq
MIRT2454774	hsa-miR-4295	CLIP-seq
MIRT2454775	hsa-miR-4465	CLIP-seq
MIRT2454776	hsa-miR-454	CLIP-seq
MIRT2454777	hsa-miR-498	CLIP-seq
MIRT2454778	hsa-miR-519a	CLIP-seq
MIRT2454779	hsa-miR-519b-3p	CLIP-seq
MIRT2454780	hsa-miR-519c-3p	CLIP-seq
MIRT2454781	hsa-miR-618	CLIP-seq
MIRT2465685	hsa-miR-153	CLIP-seq
MIRT2465686	hsa-miR-3691-3p	CLIP-seq
MIRT2465687	hsa-miR-448	CLIP-seq
MIRT2465688	hsa-miR-578	CLIP-seq
MIRT2049350	hsa-miR-4775	CLIP-seq
MIRT2049351	hsa-miR-590-3p	CLIP-seq
MIRT2576680	hsa-miR-214	CLIP-seq
MIRT2576681	hsa-miR-345	CLIP-seq
MIRT2576682	hsa-miR-3605-3p	CLIP-seq
MIRT2576683	hsa-miR-3619-5p	CLIP-seq
MIRT2576684	hsa-miR-3663-3p	CLIP-seq
MIRT2576685	hsa-miR-3973	CLIP-seq
MIRT2576686	hsa-miR-4291	CLIP-seq
MIRT2576687	hsa-miR-433	CLIP-seq
MIRT2576688	hsa-miR-4714-5p	CLIP-seq
MIRT2576689	hsa-miR-520g	CLIP-seq
MIRT2576690	hsa-miR-761	CLIP-seq
MIRT2576691	hsa-miR-888	CLIP-seq
MIRT2576692	hsa-miR-922	CLIP-seq
MIRT2576685	hsa-miR-3973	CLIP-seq
MIRT2576689	hsa-miR-520g	CLIP-seq
MIRT2576691	hsa-miR-888	CLIP-seq

Show/Hide all (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
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	ISS
GO:0005515	Function	Protein binding	IPI	19506020, 23088713, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19506020
GO:0005634	Component	Nucleus	IEA
GO:0017053	Component	Transcription repressor complex	IDA	19506020
GO:0019899	Function	Enzyme binding	IPI	19506020
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902035	Process	Positive regulation of hematopoietic stem cell proliferation	IMP	19506020
GO:1902037	Process	Negative regulation of hematopoietic stem cell differentiation	IMP	19506020

MIM	HGNC	e!Ensembl
615788	26916	ENSG00000244754

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
QAWEMKPYVEVAIGKGYRVEFHEPETWWKFDPEELEKRNKHGVSRKKIAQMLDRYEYQMS
ISIVMNSVEPSHKSTQRPPPPQGRQRWGGSLGSHNRVCVTNNH

Sequence length

583

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature	Pathogenic	rs1158061584	RCV000736213	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11768609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11768609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	37974210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	32852391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	19506020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11768609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	19506020		★★★★★ ★☆☆☆☆ Found in Text Mining only

N4BP2L2 (NEDD4 binding protein 2 like 2)