N4BP2
gene geneOn this page
Also known as B3BP
Summary
N4BP2 (NEDD4 binding protein 2, HGNC:29851) is a protein-coding gene on chromosome 4p14, encoding NEDD4-binding protein 2 (Q86UW6). Has 5’-polynucleotide kinase and nicking endonuclease activity.
This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5’-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 55728 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 246 total
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 3 cancer types
- MANE Select transcript:
NM_018177
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29851 |
| Approved symbol | N4BP2 |
| Name | NEDD4 binding protein 2 |
| Location | 4p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | B3BP |
| Ensembl gene | ENSG00000078177 |
| Ensembl biotype | protein_coding |
| OMIM | 619139 |
| Entrez | 55728 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 nonsense_mediated_decay
ENST00000261435, ENST00000511480, ENST00000513269, ENST00000515550, ENST00000706658, ENST00000913248, ENST00000913249, ENST00000913250, ENST00000913251
RefSeq mRNA: 2 — MANE Select: NM_018177
NM_001318359, NM_018177
CCDS: CCDS3457
Canonical transcript exons
ENST00000261435 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001077370 | 40097227 | 40097569 |
| ENSE00001489911 | 40073455 | 40073551 |
| ENSE00003996490 | 40106900 | 40107024 |
| ENSE00003996493 | 40102075 | 40103218 |
| ENSE00003996494 | 40126134 | 40126330 |
| ENSE00003996495 | 40131801 | 40131919 |
| ENSE00003996496 | 40113432 | 40113508 |
| ENSE00003996497 | 40154192 | 40158252 |
| ENSE00003996499 | 40152780 | 40152903 |
| ENSE00003996500 | 40112084 | 40112172 |
| ENSE00003996501 | 40144632 | 40144800 |
| ENSE00003996502 | 40119932 | 40122309 |
| ENSE00003996503 | 40124160 | 40124205 |
| ENSE00003996504 | 40136944 | 40137082 |
| ENSE00003996505 | 40117869 | 40118024 |
| ENSE00003996506 | 40142673 | 40142861 |
| ENSE00003996507 | 40123127 | 40123212 |
| ENSE00003996508 | 40056850 | 40057030 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 94.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9728 / max 274.0797, expressed in 1658 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47395 | 10.9728 | 1658 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 94.76 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.17 | gold quality |
| amniotic fluid | UBERON:0000173 | 85.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.24 | gold quality |
| secondary oocyte | CL:0000655 | 85.04 | gold quality |
| corpus epididymis | UBERON:0004359 | 84.69 | gold quality |
| thymus | UBERON:0002370 | 84.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.84 | gold quality |
| placenta | UBERON:0001987 | 83.63 | gold quality |
| calcaneal tendon | UBERON:0003701 | 83.20 | gold quality |
| parietal pleura | UBERON:0002400 | 82.66 | gold quality |
| bone marrow cell | CL:0002092 | 82.44 | gold quality |
| visceral pleura | UBERON:0002401 | 82.24 | gold quality |
| oocyte | CL:0000023 | 81.87 | gold quality |
| oral cavity | UBERON:0000167 | 81.40 | gold quality |
| oviduct epithelium | UBERON:0004804 | 81.08 | gold quality |
| ventricular zone | UBERON:0003053 | 80.63 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 80.62 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 80.55 | gold quality |
| adrenal tissue | UBERON:0018303 | 80.49 | gold quality |
| caput epididymis | UBERON:0004358 | 80.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.29 | gold quality |
| bone marrow | UBERON:0002371 | 79.75 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 79.64 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 79.54 | gold quality |
| retina | UBERON:0000966 | 79.52 | gold quality |
| bronchial epithelial cell | CL:0002328 | 79.21 | gold quality |
| superficial temporal artery | UBERON:0001614 | 79.17 | gold quality |
| tonsil | UBERON:0002372 | 79.15 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 78.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.36 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
216 targeting N4BP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
Literature-anchored findings (GeneRIF, showing 5)
- B3BP is a 5’-polynucleotide kinase (PMID:12730195)
- These data suggest that haplotype blocks ATTA and GTTG of N4BP2 is correlation with the risk of sporadic nasopharyngeal carcinoma in the Southern Chinese population. (PMID:17626640)
- The solution structure of the functionally active Smr domain of the Bcl3-binding protein (also known as Nedd4-binding protein 2), a protein with unknown function that lacks other domains present in MutS proteins, is determined. (PMID:18804481)
- the N-terminal extended region of the Smr domain in the native B3bp may function as a regulatory region for the nicking endonuclease (PMID:22072629)
- We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P (PMID:28425186)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | N4bp2 | ENSMUSG00000037795 |
| rattus_norvegicus | N4bp2 | ENSRNOG00000027152 |
Paralogs (2): N4BP2L1 (ENSG00000139597), N4BP2L2 (ENSG00000244754)
Protein
Protein identifiers
NEDD4-binding protein 2 — Q86UW6 (reviewed: Q86UW6)
Alternative names: BCL-3-binding protein
All UniProt accessions (4): Q86UW6, D6R9J2, D6RC09, H0YA93
UniProt curated annotations — full annotation on UniProt →
Function. Has 5’-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination. May play a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon.
Subunit / interactions. Binds NEDD4. Binds BCL3 and CREBBP.
Subcellular location. Cytoplasm.
Post-translational modifications. Ubiquitinated; this targets the protein for degradation by the proteasome.
Domain organisation. The Smr domain has nicking endonuclease activity, but no significant double strand cleavage or exonuclease activity.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86UW6-1 | 1 | yes |
| Q86UW6-2 | 2 |
RefSeq proteins (2): NP_001305288, NP_060647* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002625 | Smr_dom | Domain |
| IPR003892 | CUE | Domain |
| IPR009060 | UBA-like_sf | Homologous_superfamily |
| IPR013899 | DUF1771 | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR036063 | Smr_dom_sf | Homologous_superfamily |
| IPR041801 | N4BP2_CUE | Domain |
| IPR052772 | Endo/PolyKinase_Domain-Protein | Family |
| IPR056718 | DUF7816 | Domain |
| IPR056719 | DUF7817 | Domain |
| IPR056720 | DUF7818 | Domain |
Pfam: PF01713, PF08590, PF13671, PF25124, PF25125, PF25126
UniProt features (40 total): sequence conflict 7, region of interest 7, sequence variant 5, strand 5, helix 4, compositionally biased region 3, domain 2, coiled-coil region 2, modified residue 2, chain 1, binding site 1, splice variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3FAU | X-RAY DIFFRACTION | 1.9 |
| 3BHB | X-RAY DIFFRACTION | 2.2 |
| 2D9I | SOLUTION NMR | |
| 2VKC | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UW6-F1 | 49.36 | 0.16 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 447–454
Post-translational modifications (2): 906, 1210
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 193 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, KAUFFMANN_DNA_REPAIR_GENES, MODULE_239, ZHANG_BREAST_CANCER_PROGENITORS_UP, PITX2_Q2, GOMF_DNA_ENDONUCLEASE_ACTIVITY, SENESE_HDAC3_TARGETS_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, LEE_RECENT_THYMIC_EMIGRANT, GOBP_DNA_METABOLIC_PROCESS, GOMF_UBIQUITIN_LIKE_PROTEIN_BINDING, NUYTTEN_NIPP1_TARGETS_DN
GO Biological Process (2): nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481), DNA metabolic process (GO:0006259)
GO Molecular Function (8): endonuclease activity (GO:0004519), DNA endonuclease activity (GO:0004520), ATP binding (GO:0005524), hydrolase activity (GO:0016787), ubiquitin binding (GO:0043130), ATP-dependent polydeoxyribonucleotide 5’-hydroxyl-kinase activity (GO:0046404), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| nuclear-transcribed mRNA catabolic process | 1 |
| nucleic acid metabolic process | 1 |
| nuclease activity | 1 |
| endonuclease activity | 1 |
| DNA nuclease activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| catalytic activity | 1 |
| ubiquitin-like protein binding | 1 |
| ATP-dependent polynucleotide 5’-hydroxyl-kinase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
912 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| N4BP2 | PLXNA4 | Q9HCM2 | 591 |
| N4BP2 | BCL3 | P20749 | 558 |
| N4BP2 | ZNF567 | Q8N184 | 543 |
| N4BP2 | KLHL5 | Q96PQ7 | 489 |
| N4BP2 | CHD9 | Q3L8U1 | 466 |
| N4BP2 | TMEM156 | Q8N614 | 453 |
| N4BP2 | RBM47 | A0AV96 | 450 |
| N4BP2 | SPDYE16 | A6NNV3 | 447 |
| N4BP2 | A0A0J9YYB4 | A0A0J9YYB4 | 441 |
| N4BP2 | LIAS | O43766 | 439 |
| N4BP2 | PDE10A | Q9Y233 | 439 |
| N4BP2 | PDS5A | Q29RF7 | 437 |
| N4BP2 | ZWILCH | Q9H900 | 425 |
| N4BP2 | BCL2 | P10415 | 416 |
| N4BP2 | ETFB | P38117 | 413 |
IntAct
43 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM136A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM98A | HERC2 | psi-mi:“MI:0914”(association) | 0.640 |
| RACK1 | RIOK3 | psi-mi:“MI:0914”(association) | 0.640 |
| DISC1 | AP4M1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM136A | PIK3C2A | psi-mi:“MI:0914”(association) | 0.530 |
| N4BP2 | PLEC | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP63 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| RTCB | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| SF3B3 | ATXN7 | psi-mi:“MI:0914”(association) | 0.350 |
| VPS35 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| DUSP16 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| SNAPC4 | PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 |
| NAA11 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT8L2 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| NPAS1 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM98A | CASC3 | psi-mi:“MI:0914”(association) | 0.350 |
| NPHP4 | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| RPGRIP1L | ILVBL | psi-mi:“MI:2364”(proximity) | 0.270 |
| HOOK2 | SEC16A | psi-mi:“MI:2364”(proximity) | 0.270 |
| YWHAG | E2F8 | psi-mi:“MI:2364”(proximity) | 0.270 |
| AGGF1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (104): N4BP2 (Proximity Label-MS), N4BP2 (Affinity Capture-MS), N4BP2 (Affinity Capture-MS), CREBBP (Affinity Capture-Western), N4BP2 (Two-hybrid), N4BP2 (Affinity Capture-MS), N4BP2 (Affinity Capture-MS), N4BP2 (Affinity Capture-RNA), N4BP2 (Affinity Capture-Western), BCL3 (Reconstituted Complex), N4BP2 (Proximity Label-MS), N4BP2 (Proximity Label-MS), N4BP2 (Proximity Label-MS), N4BP2 (Proximity Label-MS), N4BP2 (Proximity Label-MS)
ESM2 similar proteins: A1L2H3, A2AKX3, A5D8S0, B0S6S9, D3Z987, E1BC15, O43303, O60673, O95405, P56715, Q03188, Q2M2Z5, Q3MHH3, Q3V089, Q569L8, Q5BQN8, Q5CZC0, Q5DTT3, Q5R9I1, Q5VWN6, Q61493, Q641I1, Q6NS59, Q6NSW3, Q6ZP01, Q6ZU52, Q7TSH4, Q7Z333, Q7Z3T8, Q80U44, Q80U59, Q86UW6, Q86WS4, Q86XD8, Q8IXS0, Q8MJ03, Q8MJ04, Q8MJ06, Q8N1H7, Q8N7Z5
Diamond homologs: O64843, Q6NQH9, Q86UW6, Q9LYE5, Q9UTP4, O74840, Q08954, Q29S05, Q3V2Q8, Q5TBK1, Q66H65, Q8JZS6, Q92802, P13233
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| mRNA Splicing | 6 | 17.3× | 2e-04 |
| Anchoring of the basal body to the plasma membrane | 5 | 14.9× | 1e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 13.0× | 4e-04 |
| Mitotic Prometaphase | 5 | 9.1× | 8e-03 |
| Metabolism of RNA | 8 | 8.8× | 3e-04 |
| mRNA Splicing - Major Pathway | 6 | 8.6× | 3e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 3 cancer types — CHOL, HCC, UTUC.
Clinical variants and AI predictions
ClinVar
246 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 210 |
| Likely benign | 22 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4436 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:40057027:GCAG:G | donor_gain | 1.0000 |
| 4:40057028:CAG:C | donor_loss | 1.0000 |
| 4:40057029:AG:A | donor_loss | 1.0000 |
| 4:40057030:GG:G | donor_loss | 1.0000 |
| 4:40057031:G:GA | donor_loss | 1.0000 |
| 4:40057032:T:G | donor_loss | 1.0000 |
| 4:40073453:A:AG | acceptor_gain | 1.0000 |
| 4:40073454:G:GG | acceptor_gain | 1.0000 |
| 4:40073548:GACA:G | donor_gain | 1.0000 |
| 4:40073552:G:GG | donor_gain | 1.0000 |
| 4:40102062:T:A | acceptor_gain | 1.0000 |
| 4:40102072:CA:C | acceptor_loss | 1.0000 |
| 4:40102073:A:AG | acceptor_gain | 1.0000 |
| 4:40102073:AGTT:A | acceptor_gain | 1.0000 |
| 4:40102074:G:GA | acceptor_gain | 1.0000 |
| 4:40102074:GTT:G | acceptor_gain | 1.0000 |
| 4:40102074:GTTG:G | acceptor_gain | 1.0000 |
| 4:40106894:TCACA:T | acceptor_loss | 1.0000 |
| 4:40106895:CACA:C | acceptor_loss | 1.0000 |
| 4:40106896:ACAG:A | acceptor_gain | 1.0000 |
| 4:40106897:CA:C | acceptor_loss | 1.0000 |
| 4:40106898:A:AG | acceptor_gain | 1.0000 |
| 4:40106898:AG:A | acceptor_gain | 1.0000 |
| 4:40106899:G:GA | acceptor_loss | 1.0000 |
| 4:40106899:G:GG | acceptor_gain | 1.0000 |
| 4:40106899:GG:G | acceptor_gain | 1.0000 |
| 4:40107022:GTG:G | donor_gain | 1.0000 |
| 4:40107025:G:GG | donor_gain | 1.0000 |
| 4:40107025:GTA:G | donor_loss | 1.0000 |
| 4:40107026:T:TC | donor_loss | 1.0000 |
AlphaMissense
11831 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:40144735:T:C | L1693P | 1.000 |
| 4:40103170:T:C | L442P | 0.999 |
| 4:40103179:T:C | L445P | 0.999 |
| 4:40103184:G:C | G447R | 0.999 |
| 4:40103203:A:T | K453I | 0.999 |
| 4:40106937:A:C | S471R | 0.999 |
| 4:40106939:T:A | S471R | 0.999 |
| 4:40106939:T:G | S471R | 0.999 |
| 4:40106952:T:C | F476L | 0.999 |
| 4:40106954:T:A | F476L | 0.999 |
| 4:40106954:T:G | F476L | 0.999 |
| 4:40107022:G:C | R499P | 0.999 |
| 4:40112123:T:A | I513K | 0.999 |
| 4:40112126:A:T | D514V | 0.999 |
| 4:40112130:T:A | N515K | 0.999 |
| 4:40112130:T:G | N515K | 0.999 |
| 4:40112146:T:A | W521R | 0.999 |
| 4:40112146:T:C | W521R | 0.999 |
| 4:40112165:T:A | V527D | 0.999 |
| 4:40113480:T:A | W546R | 0.999 |
| 4:40113480:T:C | W546R | 0.999 |
| 4:40113502:T:C | L553P | 0.999 |
| 4:40117871:G:C | R556P | 0.999 |
| 4:40122274:T:C | L1388P | 0.999 |
| 4:40123195:T:A | W1423R | 0.999 |
| 4:40123195:T:C | W1423R | 0.999 |
| 4:40131859:T:C | L1529P | 0.999 |
| 4:40142805:G:C | A1640P | 0.999 |
| 4:40144735:T:A | L1693H | 0.999 |
| 4:40144744:T:C | L1696P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS10000000 (4:40087276 A>G,T), RS1000008879 (4:40094660 A>C,G), RS1000018253 (4:40087304 G>A,C), RS1000065117 (4:40070934 C>A,T), RS1000067958 (4:40180603 A>G), RS1000074447 (4:40130000 T>C), RS1000112863 (4:40148214 C>T), RS10001172 (4:40156957 T>C), RS1000120019 (4:40181010 C>T), RS1000126162 (4:40143341 T>A), RS1000146222 (4:40133080 C>T), RS1000153325 (4:40160631 G>A), RS1000203254 (4:40094156 A>C), RS1000222404 (4:40181079 G>A), RS1000224156 (4:40058668 G>A)
Disease associations
OMIM: gene MIM:619139 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001501_3 | Platelet thrombus formation | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 4 |
| Cyclosporine | increases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 2 |
| Cadmium Chloride | increases abundance, increases expression, decreases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| myristicin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| cyanoginosin LR | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| riccardin D | increases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2D0 | HAP1 N4BP2 (-) 1 | Cancer cell line | Male |
| CVCL_E2D1 | HAP1 N4BP2 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.