NIFK
gene geneOn this page
Also known as Nop15Nopp34hNIFK
Summary
NIFK (nucleolar protein interacting with the FHA domain of MKI67, HGNC:17838) is a protein-coding gene on chromosome 2q14.3, encoding MKI67 FHA domain-interacting nucleolar phosphoprotein (Q9BYG3). It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
This gene encodes a protein that interacts with the forkhead-associated domain of the Ki-67 antigen. The encoded protein may bind RNA and may play a role in mitosis and cell cycle progression. Multiple pseudogenes exist on chromosomes 5, 10, 12, 15, and 19.
Source: NCBI Gene 84365 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 35 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032390
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17838 |
| Approved symbol | NIFK |
| Name | nucleolar protein interacting with the FHA domain of MKI67 |
| Location | 2q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Nop15, Nopp34, hNIFK |
| Ensembl gene | ENSG00000155438 |
| Ensembl biotype | protein_coding |
| OMIM | 611970 |
| Entrez | 84365 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 3 retained_intron
ENST00000285814, ENST00000423105, ENST00000447132, ENST00000451734, ENST00000477693, ENST00000481978, ENST00000498570, ENST00000911491, ENST00000911492, ENST00000911493, ENST00000911494
RefSeq mRNA: 1 — MANE Select: NM_032390
NM_032390
CCDS: CCDS2135
Canonical transcript exons
ENST00000285814 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001159639 | 121726945 | 121727912 |
| ENSE00001632880 | 121736746 | 121736875 |
| ENSE00001732800 | 121730893 | 121731104 |
| ENSE00003516872 | 121732096 | 121732204 |
| ENSE00003576680 | 121735613 | 121735750 |
| ENSE00003589924 | 121728477 | 121728536 |
| ENSE00003596668 | 121728288 | 121728356 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 98.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.7172 / max 886.3918, expressed in 1812 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30469 | 29.9291 | 1803 |
| 30470 | 9.6675 | 1731 |
| 30471 | 5.1206 | 1642 |
Top tissues by expression
261 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.74 | gold quality |
| ventricular zone | UBERON:0003053 | 96.12 | gold quality |
| tendon | UBERON:0000043 | 95.78 | gold quality |
| embryo | UBERON:0000922 | 95.52 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.52 | gold quality |
| cartilage tissue | UBERON:0002418 | 95.50 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.32 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.01 | gold quality |
| body of pancreas | UBERON:0001150 | 94.33 | gold quality |
| lymph node | UBERON:0000029 | 94.06 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.75 | gold quality |
| pancreas | UBERON:0001264 | 93.73 | gold quality |
| endometrium | UBERON:0001295 | 93.60 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.59 | gold quality |
| islet of Langerhans | UBERON:0000006 | 93.21 | gold quality |
| pericardium | UBERON:0002407 | 93.17 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.15 | gold quality |
| upper arm skin | UBERON:0004263 | 93.09 | gold quality |
| left ovary | UBERON:0002119 | 93.03 | gold quality |
| cortical plate | UBERON:0005343 | 93.00 | gold quality |
| ovary | UBERON:0000992 | 92.91 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 92.91 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.81 | gold quality |
| leukocyte | CL:0000738 | 92.72 | gold quality |
| monocyte | CL:0000576 | 92.69 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.67 | gold quality |
| peritoneum | UBERON:0002358 | 92.58 | gold quality |
| omental fat pad | UBERON:0010414 | 92.57 | gold quality |
| rectum | UBERON:0001052 | 92.54 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 8.60 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting NIFK, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-4424 | 98.91 | 70.33 | 1145 |
| HSA-MIR-5000-3P | 98.79 | 65.63 | 1251 |
| HSA-MIR-876-3P | 98.76 | 68.23 | 945 |
| HSA-MIR-2276-3P | 98.76 | 67.75 | 1384 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-4680-3P | 98.64 | 68.60 | 2093 |
| HSA-MIR-323A-5P | 98.59 | 65.13 | 651 |
| HSA-MIR-603 | 98.58 | 68.28 | 1603 |
| HSA-MIR-4252 | 98.45 | 66.37 | 987 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-6837-3P | 98.42 | 66.71 | 1149 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- nmr analysis of the solution structure of the FHA domain of human Ki67 and mapping of the binding surface for NIFK binding (PMID:14659764)
- Potential encounter complexes of the Ki67FHA receptor and hNIFK peptide are misregistered states of the beta-sheet. (PMID:21539773)
- The RNA recognition motif of NIFK is required for rRNA maturation during cell cycle progression. (PMID:25826659)
- NIFK is required for lung cancer progression via the RUNX1-dependent CK1alpha repression, which activates TCF4/beta-catenin signaling in metastasis and the Ki-67-dependent regulation in cell proliferation. (PMID:26984280)
- NIFK as a potential prognostic biomarker in colorectal cancer correlating with immune infiltrates. (PMID:37800782)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nifk | ENSDARG00000040666 |
| mus_musculus | Nifk | ENSMUSG00000026377 |
| rattus_norvegicus | Nifk | ENSRNOG00000025701 |
Protein
Protein identifiers
MKI67 FHA domain-interacting nucleolar phosphoprotein — Q9BYG3 (reviewed: Q9BYG3)
Alternative names: Nucleolar phosphoprotein Nopp34, Nucleolar protein interacting with the FHA domain of pKI-67
All UniProt accessions (4): Q9BYG3, C9J6C5, C9J808, H7BZL0
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Binds to the FHA domain of MKI67; this interaction is enhanced in mitosis.
Subcellular location. Nucleus. Nucleolus. Chromosome.
Post-translational modifications. Sequentially phosphorylated on Thr-238, Thr-234 and Ser-230. Thr-234 is phosphorylated only when Thr-238 is phosphorylated. Likewise, phosphorylation at Ser-230 requires that Thr-234 and Thr-238 are phosphorylated. Phosphorylation enhances MKI67 binding.
RefSeq proteins (1): NP_115766* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR021043 | NIFK_FHA_Ki67-binding | Domain |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
Pfam: PF00076, PF12196
UniProt features (36 total): modified residue 13, cross-link 6, mutagenesis site 5, region of interest 3, helix 2, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, sequence variant 1, strand 1
Structure
Experimental structures (PDB)
25 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FLE | ELECTRON MICROSCOPY | 2.48 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FL3 | ELECTRON MICROSCOPY | 2.53 |
| 8FL7 | ELECTRON MICROSCOPY | 2.55 |
| 8FLB | ELECTRON MICROSCOPY | 2.55 |
| 8FLD | ELECTRON MICROSCOPY | 2.58 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FL6 | ELECTRON MICROSCOPY | 2.62 |
| 8FLA | ELECTRON MICROSCOPY | 2.63 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FL2 | ELECTRON MICROSCOPY | 2.67 |
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
| 8INF | ELECTRON MICROSCOPY | 3 |
| 8FKZ | ELECTRON MICROSCOPY | 3.04 |
| 8INE | ELECTRON MICROSCOPY | 3.2 |
| 8IPY | ELECTRON MICROSCOPY | 3.2 |
| 8IR3 | ELECTRON MICROSCOPY | 3.5 |
| 8IPX | ELECTRON MICROSCOPY | 4.3 |
| 2AFF | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYG3-F1 | 73.56 | 0.35 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (19): 145, 218, 223, 230, 234, 238, 244, 245, 247, 279, 284, 38, 139, 179, 192, 271, 271, 2, 114
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 230 | loss of phosphorylation site. |
| 234 | loss of phosphorylation site. abrogates interaction with mki67. |
| 235 | reduces phosphorylation at t-234. |
| 238 | loss of phosphorylation site. abrogates interaction with mki67. |
| 239 | reduces phosphorylation at t-234 and t-238. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_RRNA_TRANSCRIPTION, WEI_MYCN_TARGETS_WITH_E_BOX, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_207, chr2q14, GOCC_NUCLEOLUS, SCGGAAGY_ELK1_02, GOCC_NUCLEAR_CHROMOSOME, GOCC_CONDENSED_NUCLEAR_CHROMOSOME
GO Biological Process (3): rRNA transcription (GO:0009303), rRNA metabolic process (GO:0016072), protein-containing complex assembly (GO:0065003)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (6): condensed nuclear chromosome (GO:0000794), nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), cytoplasm (GO:0005737), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| intracellular membraneless organelle | 2 |
| DNA-templated transcription | 1 |
| rRNA metabolic process | 1 |
| RNA metabolic process | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| nucleic acid binding | 1 |
| nuclear chromosome | 1 |
| condensed chromosome | 1 |
| nucleus | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
3092 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NIFK | MKI67 | P46013 | 856 |
| NIFK | RSL1D1 | O76021 | 744 |
| NIFK | DDX18 | Q9NVP1 | 741 |
| NIFK | NIP7 | Q9Y221 | 739 |
| NIFK | WDR12 | Q9GZL7 | 680 |
| NIFK | MAK16 | Q9BXY0 | 671 |
| NIFK | EBNA1BP2 | Q99848 | 670 |
| NIFK | GNL3 | Q9BVP2 | 659 |
| NIFK | PA2G4 | Q9UQ80 | 624 |
| NIFK | GTPBP4 | Q9BZE4 | 609 |
| NIFK | MRTO4 | Q9UKD2 | 585 |
| NIFK | BOP1 | Q14137 | 561 |
| NIFK | NOC2L | Q9Y3T9 | 559 |
| NIFK | POLR1B | Q9H9Y6 | 555 |
| NIFK | BRIX1 | Q8TDN6 | 540 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MKI67 | NIFK | psi-mi:“MI:0407”(direct interaction) | 0.750 |
| MKI67 | NIFK | psi-mi:“MI:0915”(physical association) | 0.750 |
| N | HNRNPR | psi-mi:“MI:0914”(association) | 0.730 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
| LIN28A | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A1 | SURF6 | psi-mi:“MI:0914”(association) | 0.590 |
| NIFK | TNIP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNIP1 | NIFK | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPL28 | MAGEB2 | psi-mi:“MI:0914”(association) | 0.560 |
| ZCRB1 | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| NIFK | RSL1D1 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| NIFK | PPP1CA | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LTK | PIK3R2 | psi-mi:“MI:0914”(association) | 0.420 |
| NEFH | NIFK | psi-mi:“MI:0915”(physical association) | 0.400 |
| PHF3 | NIFK | psi-mi:“MI:0915”(physical association) | 0.400 |
| OR5H8 | NIFK | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCDC68 | NIFK | psi-mi:“MI:0915”(physical association) | 0.400 |
| Mki67 | PPP1CA | psi-mi:“MI:0915”(physical association) | 0.400 |
| NIFK | psi-mi:“MI:0915”(physical association) | 0.370 | |
| ZDHHC17 | NIFK | psi-mi:“MI:0915”(physical association) | 0.370 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| NP | HNRNPAB | psi-mi:“MI:0914”(association) | 0.350 |
| RRP1B | ZNF785 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (676): NIFK (Two-hybrid), NIFK (Two-hybrid), NIFK (Affinity Capture-MS), NIFK (Affinity Capture-MS), NIFK (Affinity Capture-MS), NIFK (Affinity Capture-MS), NIFK (Affinity Capture-MS), NIFK (Affinity Capture-MS), NIFK (Affinity Capture-MS), LARP7 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), RPF1 (Affinity Capture-MS), YBX2 (Affinity Capture-MS), RBM28 (Affinity Capture-MS), YTHDC2 (Affinity Capture-MS)
ESM2 similar proteins: A3LVD5, A7EAY2, O13620, O13741, O74362, O74400, O74978, P37838, P42696, P53743, P53883, P53927, Q01491, Q06106, Q07623, Q08208, Q09100, Q1E7Y4, Q2GZQ4, Q3SZM1, Q4PC17, Q4WCH5, Q5AHI7, Q5AJS6, Q5BDC8, Q5M9F1, Q5RJM0, Q6BTS9, Q6C007, Q6C2Q7, Q6CEW9, Q6CFT1, Q6CKV6, Q6CQR6, Q6FUS6, Q6FWS2, Q6FXP4, Q6GL69, Q757I6, Q75A83
Diamond homologs: A0A0A0LLY1, A0A0D1C8Z4, A0A0R4IEW8, A7EWN6, B0BN49, B5DF91, C0HFE5, D3Z4I3, M0R7T6, O09032, O22703, O23212, O35698, O43040, O74978, O94290, P19684, P25299, P26368, P26369, P26378, P33240, P48810, P49311, P70372, P90727, P90978, P97343, P98179, Q00916, Q03250, Q03878, Q05966, Q08473, Q08935, Q08E07, Q10B98, Q12926, Q13595, Q14576
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDK1 | “up-regulates activity” | NIFK | phosphorylation |
| GSK3A | “up-regulates activity” | NIFK | phosphorylation |
| GSK3B | “up-regulates activity” | NIFK | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 160 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 6 | 17.8× | 2e-05 |
| Cap-dependent Translation Initiation | 6 | 17.8× | 2e-05 |
| SARS-CoV-1 modulates host translation machinery | 6 | 17.8× | 2e-05 |
| Eukaryotic Translation Elongation | 6 | 16.1× | 4e-05 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 6 | 15.7× | 4e-05 |
| Peptide chain elongation | 12 | 14.6× | 3e-09 |
| Viral mRNA Translation | 12 | 14.6× | 3e-09 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 12 | 14.5× | 3e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription by RNA polymerase III | 5 | 33.2× | 3e-05 |
| negative regulation of viral genome replication | 7 | 18.6× | 1e-05 |
| cytoplasmic translation | 13 | 17.1× | 5e-10 |
| ribosomal large subunit biogenesis | 5 | 15.7× | 1e-03 |
| ribosomal small subunit biogenesis | 9 | 14.5× | 2e-06 |
| rRNA processing | 14 | 14.1× | 5e-10 |
| regulation of alternative mRNA splicing, via spliceosome | 6 | 10.4× | 2e-03 |
| translation | 14 | 10.2× | 3e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
837 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:121728358:T:C | acceptor_gain | 1.0000 |
| 2:121730889:TTACC:T | donor_loss | 1.0000 |
| 2:121730890:TAC:T | donor_loss | 1.0000 |
| 2:121730891:A:AC | donor_gain | 1.0000 |
| 2:121730892:C:CC | donor_gain | 1.0000 |
| 2:121730892:C:CG | donor_loss | 1.0000 |
| 2:121730914:AATT:A | donor_gain | 1.0000 |
| 2:121730917:T:TA | donor_gain | 1.0000 |
| 2:121730927:G:C | donor_gain | 1.0000 |
| 2:121730937:T:TA | donor_gain | 1.0000 |
| 2:121730955:T:A | donor_gain | 1.0000 |
| 2:121731100:ATGAC:A | acceptor_gain | 1.0000 |
| 2:121731101:TGAC:T | acceptor_gain | 1.0000 |
| 2:121731102:GAC:G | acceptor_gain | 1.0000 |
| 2:121731103:AC:A | acceptor_gain | 1.0000 |
| 2:121731104:CC:C | acceptor_gain | 1.0000 |
| 2:121731104:CCTA:C | acceptor_loss | 1.0000 |
| 2:121731105:C:CA | acceptor_loss | 1.0000 |
| 2:121731105:C:CC | acceptor_gain | 1.0000 |
| 2:121731109:T:C | acceptor_gain | 1.0000 |
| 2:121731112:C:CT | acceptor_gain | 1.0000 |
| 2:121731113:A:T | acceptor_gain | 1.0000 |
| 2:121732090:ACTT:A | donor_loss | 1.0000 |
| 2:121732091:CTTAC:C | donor_loss | 1.0000 |
| 2:121732093:TAC:T | donor_gain | 1.0000 |
| 2:121732094:A:AC | donor_gain | 1.0000 |
| 2:121732094:A:AG | donor_loss | 1.0000 |
| 2:121732094:ACA:A | donor_gain | 1.0000 |
| 2:121732094:ACACT:A | donor_gain | 1.0000 |
| 2:121732095:C:CT | donor_gain | 1.0000 |
AlphaMissense
1916 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:121735652:A:C | F68L | 0.995 |
| 2:121735652:A:T | F68L | 0.995 |
| 2:121735654:A:G | F68L | 0.995 |
| 2:121732169:A:C | F93L | 0.993 |
| 2:121732169:A:T | F93L | 0.993 |
| 2:121732171:A:G | F93L | 0.993 |
| 2:121732178:A:C | F90L | 0.993 |
| 2:121732178:A:T | F90L | 0.993 |
| 2:121732180:A:G | F90L | 0.993 |
| 2:121732182:G:T | A89E | 0.989 |
| 2:121735622:T:A | R78S | 0.989 |
| 2:121735622:T:G | R78S | 0.989 |
| 2:121732152:G:T | A99D | 0.987 |
| 2:121735716:A:T | V47D | 0.986 |
| 2:121731064:A:C | F131L | 0.985 |
| 2:121731064:A:T | F131L | 0.985 |
| 2:121731066:A:G | F131L | 0.985 |
| 2:121732096:A:G | C118R | 0.985 |
| 2:121735650:C:A | G69V | 0.985 |
| 2:121731103:A:C | C118W | 0.983 |
| 2:121732141:C:G | A103P | 0.982 |
| 2:121732153:C:G | A99P | 0.979 |
| 2:121732176:A:T | V91E | 0.979 |
| 2:121732170:A:G | F93S | 0.978 |
| 2:121732143:A:T | V102D | 0.977 |
| 2:121735710:A:T | V49E | 0.976 |
| 2:121732183:C:G | A89P | 0.975 |
| 2:121732190:T:A | K86N | 0.975 |
| 2:121732190:T:G | K86N | 0.975 |
| 2:121730930:A:G | L176S | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000500782 (2:121727465 T>C), RS1000526848 (2:121737477 C>A), RS1000813779 (2:121737760 C>G,T), RS1001079870 (2:121726528 T>TG), RS1001153569 (2:121737135 G>C), RS1001204696 (2:121734947 A>T), RS1001236362 (2:121726927 C>T), RS1001458732 (2:121729507 C>T), RS1001803362 (2:121729298 G>A), RS1002182621 (2:121733615 A>G), RS1002235095 (2:121733752 A>G), RS1002345647 (2:121728079 T>G), RS1002432429 (2:121731319 C>G), RS1002483796 (2:121738692 G>C), RS1002860281 (2:121735314 A>G)
Disease associations
OMIM: gene MIM:611970 | 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 |
|---|---|---|
| GCST009391_2054 | Metabolite levels | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010345 | cholesteryl ester 18:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523443 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression, affects cotreatment, increases expression | 5 |
| sodium arsenite | increases abundance, increases expression, affects binding, increases reaction, decreases expression (+1 more) | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Valproic Acid | affects expression, increases expression, increases methylation | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment, decreases expression | 2 |
| Plant Extracts | affects cotreatment, increases expression, decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects cotreatment, decreases expression, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | affects expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | 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 |
|---|---|---|---|
| CHEMBL4341436 | Binding | Binding affinity to MKI67 in human A549 cells lysates grown on SILAC media at 10 uM incubated for 1 hr by LC-MS/MS analysis relative to untreated control | Profiling withanolide A for therapeutic targets in neurodegenerative diseases. — Bioorg Med Chem |
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.