NIT2
gene geneOn this page
Summary
NIT2 (nitrilase family member 2, HGNC:29878) is a protein-coding gene on chromosome 3q12.2, encoding Omega-amidase NIT2 (Q9NQR4). Has omega-amidase activity.
Enables omega-amidase activity. Involved in asparagine metabolic process; glutamine metabolic process; and oxaloacetate metabolic process. Located in centrosome and cytosol.
Source: NCBI Gene 56954 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 51 total
- Druggable target: yes
- MANE Select transcript:
NM_020202
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29878 |
| Approved symbol | NIT2 |
| Name | nitrilase family member 2 |
| Location | 3q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000114021 |
| Ensembl biotype | protein_coding |
| OMIM | 616769 |
| Entrez | 56954 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000394140, ENST00000460317, ENST00000465368, ENST00000472392, ENST00000478856, ENST00000480073, ENST00000497785, ENST00000867929, ENST00000867930, ENST00000867931, ENST00000867932
RefSeq mRNA: 1 — MANE Select: NM_020202
NM_020202
CCDS: CCDS33806
Canonical transcript exons
ENST00000394140 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001227514 | 100355177 | 100361635 |
| ENSE00001517603 | 100334757 | 100334798 |
| ENSE00003571494 | 100348803 | 100348881 |
| ENSE00003574715 | 100352404 | 100352502 |
| ENSE00003575356 | 100341073 | 100341161 |
| ENSE00003592881 | 100354772 | 100354827 |
| ENSE00003633258 | 100339087 | 100339205 |
| ENSE00003656199 | 100346181 | 100346255 |
| ENSE00003670178 | 100339815 | 100339935 |
| ENSE00003680812 | 100345585 | 100345678 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 97.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.4818 / max 151.3254, expressed in 1813 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37605 | 32.3414 | 1811 |
| 37606 | 1.1404 | 721 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 97.98 | gold quality |
| liver | UBERON:0002107 | 96.91 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.90 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 96.41 | gold quality |
| nephron tubule | UBERON:0001231 | 96.26 | gold quality |
| kidney | UBERON:0002113 | 94.88 | gold quality |
| skin of abdomen | UBERON:0001416 | 94.61 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.57 | gold quality |
| skin of leg | UBERON:0001511 | 94.56 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.52 | gold quality |
| cortex of kidney | UBERON:0001225 | 94.34 | gold quality |
| muscle of leg | UBERON:0001383 | 94.32 | gold quality |
| kidney epithelium | UBERON:0004819 | 94.31 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.22 | gold quality |
| tibial nerve | UBERON:0001323 | 94.15 | gold quality |
| gingival epithelium | UBERON:0001949 | 94.10 | gold quality |
| zone of skin | UBERON:0000014 | 94.08 | gold quality |
| apex of heart | UBERON:0002098 | 93.92 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.90 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.76 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.50 | gold quality |
| gingiva | UBERON:0001828 | 93.44 | gold quality |
| right adrenal gland | UBERON:0001233 | 93.35 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.34 | gold quality |
| omental fat pad | UBERON:0010414 | 93.31 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 93.31 | gold quality |
| peritoneum | UBERON:0002358 | 93.28 | gold quality |
| adipose tissue | UBERON:0001013 | 93.26 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 93.25 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.23 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 32.62 |
| E-ANND-3 | yes | 12.27 |
| E-CURD-112 | yes | 9.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting NIT2, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-1206 | 99.30 | 69.32 | 1016 |
| HSA-MIR-642A-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-642B-3P | 99.23 | 67.67 | 1258 |
| HSA-MIR-3925-5P | 99.21 | 67.90 | 1466 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-589-5P | 98.72 | 66.96 | 927 |
| HSA-MIR-4733-3P | 98.35 | 65.20 | 994 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-15B-3P | 97.85 | 66.68 | 974 |
| HSA-MIR-3162-5P | 95.67 | 67.53 | 794 |
| HSA-MIR-6800-5P | 94.59 | 64.80 | 525 |
| HSA-MIR-135A-3P | 94.19 | 66.09 | 495 |
Literature-anchored findings (GeneRIF, showing 6)
- Genotype analysis in 4 types of tumor tissue showed allelic imbalance surrounding NIT2 locus; results show that NIT2 plays an important role in cell growth inhibition & links to malignancies, suggesting Nit2 may be a potential tumor suppressor candidate (PMID:17488281)
- The activity and substrate specificity of human Nit2 was determined with alpha-ketoglutaramate and succinamate as substrates. (PMID:22674578)
- Human NIT1/2 are not involved in the metabolism of vildagliptin. (PMID:25008847)
- Downregulation of NIT2 inhibits colon cancer cell proliferation and induces cell cycle arrest through the caspase-3 and PARP pathways (PMID:25738796)
- NIT2 overexpression predicts poor prognosis in tongue squamous cell carcinoma patients. (PMID:31925645)
- A novel efficient producer of human omega-amidase (Nit2) in Escherichia coli. (PMID:34391728)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nit2 | ENSDARG00000017590 |
| mus_musculus | Nit2 | ENSMUSG00000022751 |
| rattus_norvegicus | Nit2 | ENSRNOG00000027797 |
| drosophila_melanogaster | CG8132 | FBGN0037687 |
Paralogs (2): UPB1 (ENSG00000100024), NIT1 (ENSG00000158793)
Protein
Protein identifiers
Omega-amidase NIT2 — Q9NQR4 (reviewed: Q9NQR4)
Alternative names: Nitrilase homolog 2
All UniProt accessions (5): Q9NQR4, F8WF58, F8WF70, H7C579, V9HW91
UniProt curated annotations — full annotation on UniProt →
Function. Has omega-amidase activity. The role of omega-amidase is to remove potentially toxic intermediates by converting 2-oxoglutaramate and 2-oxosuccinamate to biologically useful 2-oxoglutarate and oxaloacetate, respectively.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Tissue specificity. Detected in fetal brain (at protein level). Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, prostate, spleen, thymus, prostate, testis, ovary, small intestine and colon.
Similarity. Belongs to the carbon-nitrogen hydrolase superfamily. NIT1/NIT2 family.
RefSeq proteins (1): NP_064587* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003010 | C-N_Hydrolase | Domain |
| IPR036526 | C-N_Hydrolase_sf | Homologous_superfamily |
| IPR045254 | Nit1/2_C-N_Hydrolase | Domain |
Pfam: PF00795
Enzyme classification (BRENDA):
- EC 3.5.1.3 — omega-amidase (BRENDA: 20 organisms, 177 substrates, 34 inhibitors, 61 Km, 11 kcat entries)
Substrate kinetics (BRENDA)
23 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 2-OXOGLUTARAMATE | 0.0054–9 | 10 |
| HYDROXYLAMINE | 1–100 | 8 |
| SUCCINAMATE | 0.14–17 | 6 |
| GLUTARAMATE | 1.27–25 | 5 |
| 2-OXOSUCCINAMATE | 0.003–6.13 | 4 |
| METHYL GLUTARATE | 1.8–52 | 3 |
| METHYLAMINE | 30–55 | 3 |
| ETHYL GLUTARATE | 9.9–31 | 2 |
| ETHYL SUCCINATE | 8.3–17 | 2 |
| METHYL SUCCINATE | 0.7–8 | 2 |
| PROPYL GLUTARATE | 6.8–18 | 2 |
| SUCCINATE | 30–63 | 2 |
| 2-HYDROXYSUCCINAMATE | 5.58 | 1 |
| 2-OXOGLUTARATE | 3.3 | 1 |
| GAMMA-ETHYL 2-OXOGLUTARATE | 0.06 | 1 |
Catalyzed reactions (Rhea), 3 shown:
- a monoamide of a dicarboxylate + H2O = a dicarboxylate + NH4(+) (RHEA:11716)
- 2-oxoglutaramate + H2O = 2-oxoglutarate + NH4(+) (RHEA:32963)
- 2-oxosuccinamate + H2O = oxaloacetate + NH4(+) (RHEA:59412)
UniProt features (15 total): modified residue 5, mutagenesis site 4, active site 3, chain 1, domain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NQR4-F1 | 97.62 | 0.98 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 43 (proton acceptor); 112 (proton donor); 153 (nucleophile)
Post-translational modifications (5): 26, 68, 68, 123, 130
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 43 | loss of activity using succinamate as substrate. |
| 112 | loss of activity using succinamate as substrate. |
| 116–128 | less than 3% of wild-type activity using succinamate as substrate. |
| 153 | loss of activity using succinamate as substrate. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
MSigDB gene sets: 130 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_OXALOACETATE_METABOLIC_PROCESS, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_GLUTAMINE_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, MULLIGHAN_NPM1_SIGNATURE_3_DN, MARTINEZ_RB1_AND_TP53_TARGETS_UP, GRADE_COLON_AND_RECTAL_CANCER_UP, MULLIGHAN_MLL_SIGNATURE_2_DN
GO Biological Process (3): oxaloacetate metabolic process (GO:0006107), obsolete asparagine metabolic process (GO:0006528), L-glutamine metabolic process (GO:0006541)
GO Molecular Function (4): omega-amidase activity (GO:0050152), 2-oxoglutaramate amidase activity (GO:0106008), hydrolase activity (GO:0016787), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides (GO:0016811)
GO Cellular Component (8): extracellular region (GO:0005576), mitochondrion (GO:0005739), centrosome (GO:0005813), cytosol (GO:0005829), specific granule lumen (GO:0035580), extracellular exosome (GO:0070062), tertiary granule lumen (GO:1904724), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| dicarboxylic acid metabolic process | 1 |
| L-amino acid metabolic process | 1 |
| proteinogenic amino acid metabolic process | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | 1 |
| omega-amidase activity | 1 |
| catalytic activity | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | 1 |
| intracellular membrane-bounded organelle | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| secretory granule lumen | 1 |
| specific granule | 1 |
| extracellular vesicle | 1 |
| intracellular organelle lumen | 1 |
| tertiary granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1588 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NIT2 | MDH2 | P40926 | 490 |
| NIT2 | ISOC2 | Q96AB3 | 487 |
| NIT2 | KYAT1 | Q16773 | 484 |
| NIT2 | CIAO3 | Q9H6Q4 | 463 |
| NIT2 | GLUL | P15104 | 449 |
| NIT2 | PKDCC | Q504Y2 | 428 |
| NIT2 | ISOC1 | Q96CN7 | 417 |
| NIT2 | GPT2 | Q8TD30 | 402 |
| NIT2 | GLUD1 | P00367 | 401 |
| NIT2 | HARS1 | P12081 | 400 |
| NIT2 | GULP1 | Q9UBP9 | 398 |
| NIT2 | CDH8 | P55286 | 387 |
| NIT2 | DMGDH | Q9UI17 | 383 |
| NIT2 | CINP | Q9BW66 | 381 |
| NIT2 | NOC2L | Q9Y3T9 | 377 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LYRM4 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.640 |
| NIT2 | PDIA4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFTR | NIT2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CREB1 | NFIX | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| COQ6 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-A | AIP | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
| NIT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (89): LDHA (Co-fractionation), NIT2 (Co-fractionation), NIT2 (Co-fractionation), NIT2 (Co-fractionation), NIT2 (Co-fractionation), PARK7 (Co-fractionation), PRDX5 (Co-fractionation), PSMG4 (Co-fractionation), TPI1 (Co-fractionation), NIT2 (Affinity Capture-MS), NIT2 (Affinity Capture-MS), NIT2 (Affinity Capture-RNA), NIT2 (Co-fractionation), NIT2 (Co-fractionation), NIT2 (Co-fractionation)
ESM2 similar proteins: A0A140NCB4, A2R6M7, A2RA31, A4G3R1, B2JQY2, B6Q5I3, C6DKR8, G9AIU0, G9N4E3, O94660, P07874, P0DP64, P0DP66, P0DP68, P11444, P20960, P42593, P49954, P55175, P55176, P55178, P55357, P58054, P60327, P76008, Q0AJD9, Q216E0, Q221R3, Q2KXM7, Q3HVN1, Q44185, Q4VBV9, Q500U1, Q5S260, Q6INI7, Q6IR61, Q6N409, Q6RWG0, Q75SP7, Q82VS5
Diamond homologs: A0A140NCB4, A0A140NDS5, O31664, O76463, O76464, O94660, P0DP64, P0DP65, P0DP66, P0DP67, P55175, P55176, P55177, P55178, P58054, Q10166, Q28IE5, Q2T9R6, Q32LH4, Q47679, Q4VBV9, Q54JM9, Q557J5, Q5R4L6, Q6INI7, Q6IR61, Q75SP7, Q7TQ94, Q86X76, Q8RUF8, Q8VDK1, Q93NG1, Q94JV5, Q9JHW2, Q9NQR4, Q9UYV8, A6ZYQ3, B3LFZ1, B5VGI4, C4LYI2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1644 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:100334794:GACCT:G | donor_gain | 1.0000 |
| 3:100334796:CCT:C | donor_gain | 1.0000 |
| 3:100334797:CT:C | donor_gain | 1.0000 |
| 3:100334798:TGT:T | donor_loss | 1.0000 |
| 3:100334799:G:GG | donor_gain | 1.0000 |
| 3:100339083:TCAGC:T | acceptor_loss | 1.0000 |
| 3:100339085:A:AG | acceptor_gain | 1.0000 |
| 3:100339085:AGCTT:A | acceptor_loss | 1.0000 |
| 3:100339086:G:GG | acceptor_gain | 1.0000 |
| 3:100339086:GC:G | acceptor_gain | 1.0000 |
| 3:100339086:GCT:G | acceptor_gain | 1.0000 |
| 3:100339086:GCTTT:G | acceptor_gain | 1.0000 |
| 3:100339202:GCCG:G | donor_gain | 1.0000 |
| 3:100339203:CCGG:C | donor_loss | 1.0000 |
| 3:100339206:G:C | donor_loss | 1.0000 |
| 3:100339206:G:GG | donor_gain | 1.0000 |
| 3:100339210:G:GG | donor_gain | 1.0000 |
| 3:100339809:TTCTA:T | acceptor_loss | 1.0000 |
| 3:100339810:TCTA:T | acceptor_loss | 1.0000 |
| 3:100339811:CTAG:C | acceptor_loss | 1.0000 |
| 3:100339812:TA:T | acceptor_loss | 1.0000 |
| 3:100339813:A:T | acceptor_loss | 1.0000 |
| 3:100339814:GGAAT:G | acceptor_gain | 1.0000 |
| 3:100339899:G:GT | donor_gain | 1.0000 |
| 3:100339911:G:GT | donor_gain | 1.0000 |
| 3:100339912:A:T | donor_gain | 1.0000 |
| 3:100341046:AT:A | acceptor_gain | 1.0000 |
| 3:100341047:T:TA | acceptor_gain | 1.0000 |
| 3:100341065:A:AG | acceptor_gain | 1.0000 |
| 3:100341067:T:TA | acceptor_gain | 1.0000 |
AlphaMissense
1781 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:100341160:A:C | K112T | 0.997 |
| 3:100341161:G:C | K112N | 0.997 |
| 3:100341161:G:T | K112N | 0.997 |
| 3:100346222:T:C | F158L | 0.997 |
| 3:100346224:T:A | F158L | 0.997 |
| 3:100346224:T:G | F158L | 0.997 |
| 3:100348832:T:C | F179L | 0.997 |
| 3:100348834:T:A | F179L | 0.997 |
| 3:100348834:T:G | F179L | 0.997 |
| 3:100352483:A:C | S222R | 0.997 |
| 3:100352485:C:A | S222R | 0.997 |
| 3:100352485:C:G | S222R | 0.997 |
| 3:100346207:T:C | C153R | 0.996 |
| 3:100348881:G:C | R195P | 0.996 |
| 3:100345594:T:C | F116L | 0.995 |
| 3:100345596:T:A | F116L | 0.995 |
| 3:100345596:T:G | F116L | 0.995 |
| 3:100346208:G:A | C153Y | 0.995 |
| 3:100346209:C:G | C153W | 0.995 |
| 3:100341159:A:C | K112Q | 0.994 |
| 3:100341160:A:T | K112M | 0.994 |
| 3:100346214:A:T | D155V | 0.994 |
| 3:100352406:C:A | A196D | 0.994 |
| 3:100345631:A:T | E128V | 0.993 |
| 3:100348812:T:C | L172P | 0.993 |
| 3:100352430:C:A | A204D | 0.993 |
| 3:100341157:G:T | R111I | 0.992 |
| 3:100345632:A:C | E128D | 0.992 |
| 3:100345632:A:T | E128D | 0.992 |
| 3:100346213:G:C | D155H | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000006047 (3:100361312 T>C), RS1000144310 (3:100361708 A>G,T), RS1000244018 (3:100335156 C>G,T), RS1000504748 (3:100354075 C>A), RS1000557352 (3:100347073 A>C), RS1000681261 (3:100360730 G>A), RS1000733108 (3:100360956 C>T), RS1000944250 (3:100334999 G>A), RS1000976662 (3:100335297 C>T), RS1000980951 (3:100354385 G>A,T), RS1001009368 (3:100359745 T>G), RS1001022879 (3:100347626 C>T), RS1001246667 (3:100340735 C>T), RS1001583289 (3:100353041 C>T), RS1001596087 (3:100339893 C>G,T)
Disease associations
OMIM: gene MIM:616769 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009439_28 | Age-related cognitive decline (language) (slope of z-scores) | 6.000000e-07 |
| GCST010002_434 | Refractive error | 5.000000e-25 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007710 | cognitive decline measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067107 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.58 | Kd | 2.637 | nM | CHEMBL5653589 |
| 8.56 | ED50 | 2.756 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148870: Binding affinity to human NIT2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0026 | uM |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| microcystin RR | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| quinocetone | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651912 | Binding | Binding affinity to human NIT2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3CE | Abcam HEK293T NIT2 KO | Transformed cell line | Female |
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.