NKTR
gene geneOn this page
Also known as p104CypNK
Summary
NKTR (natural killer cell triggering receptor, HGNC:7833) is a protein-coding gene on chromosome 3p22.1, encoding NK-tumor recognition protein (P30414). PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.
This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells.
Source: NCBI Gene 4820 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 173 total
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
- MANE Select transcript:
NM_005385
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7833 |
| Approved symbol | NKTR |
| Name | natural killer cell triggering receptor |
| Location | 3p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p104, CypNK |
| Ensembl gene | ENSG00000114857 |
| Ensembl biotype | protein_coding |
| OMIM | 161565 |
| Entrez | 4820 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 13 retained_intron, 11 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000232978, ENST00000429888, ENST00000442970, ENST00000445842, ENST00000459950, ENST00000460807, ENST00000460910, ENST00000464315, ENST00000465584, ENST00000466553, ENST00000468735, ENST00000472127, ENST00000472258, ENST00000478488, ENST00000487466, ENST00000490189, ENST00000498730, ENST00000508351, ENST00000937553, ENST00000937554, ENST00000937555, ENST00000937556, ENST00000937557, ENST00000970640, ENST00000970641, ENST00000970642
RefSeq mRNA: 4 — MANE Select: NM_005385
NM_001349124, NM_001349125, NM_001349126, NM_005385
CCDS: CCDS2702
Canonical transcript exons
ENST00000232978 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003463077 | 42621429 | 42621516 |
| ENSE00003467679 | 42634613 | 42634700 |
| ENSE00003469432 | 42632601 | 42632823 |
| ENSE00003481575 | 42643902 | 42644003 |
| ENSE00003483101 | 42636868 | 42639750 |
| ENSE00003490644 | 42619664 | 42619708 |
| ENSE00003496963 | 42600984 | 42601064 |
| ENSE00003516116 | 42633580 | 42633735 |
| ENSE00003526934 | 42643339 | 42643395 |
| ENSE00003532787 | 42631171 | 42631316 |
| ENSE00003575141 | 42645888 | 42648735 |
| ENSE00003580172 | 42642501 | 42642596 |
| ENSE00003613809 | 42619020 | 42619127 |
| ENSE00003622159 | 42635221 | 42635366 |
| ENSE00003639347 | 42617570 | 42617644 |
| ENSE00003641623 | 42630546 | 42630575 |
| ENSE00003740429 | 42600686 | 42600778 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 98.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.3666 / max 320.8463, expressed in 1810 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36262 | 21.1614 | 1793 |
| 36264 | 2.9688 | 1328 |
| 36263 | 1.9966 | 910 |
| 36268 | 0.2397 | 79 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pylorus | UBERON:0001166 | 98.58 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.46 | gold quality |
| caput epididymis | UBERON:0004358 | 98.36 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.33 | gold quality |
| cranial nerve II | UBERON:0000941 | 98.23 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.05 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.91 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.88 | gold quality |
| visceral pleura | UBERON:0002401 | 97.83 | gold quality |
| corpus callosum | UBERON:0002336 | 97.77 | gold quality |
| superficial temporal artery | UBERON:0001614 | 97.75 | gold quality |
| sural nerve | UBERON:0015488 | 97.72 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.68 | gold quality |
| urethra | UBERON:0000057 | 97.67 | gold quality |
| renal medulla | UBERON:0000362 | 97.58 | gold quality |
| right uterine tube | UBERON:0001302 | 97.41 | gold quality |
| secondary oocyte | CL:0000655 | 97.40 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.37 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 97.31 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 97.29 | gold quality |
| inferior olivary complex | UBERON:0002127 | 97.29 | gold quality |
| left ovary | UBERON:0002119 | 97.28 | gold quality |
| pericardium | UBERON:0002407 | 97.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.25 | gold quality |
| tendon | UBERON:0000043 | 97.24 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.23 | gold quality |
| nerve | UBERON:0001021 | 97.22 | gold quality |
| tibial nerve | UBERON:0001323 | 97.22 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.21 | gold quality |
| right ovary | UBERON:0002118 | 97.20 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 21.26 |
| E-MTAB-8410 | yes | 9.20 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
157 targeting NKTR, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| 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 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nktr | ENSDARG00000059097 |
| mus_musculus | Nktr | ENSMUSG00000032525 |
| rattus_norvegicus | Nktr | ENSRNOG00000049128 |
| drosophila_melanogaster | Cyp40 | FBGN0036020 |
| caenorhabditis_elegans | WBGENE00000885 |
Paralogs (22): PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), PPWD1 (ENSG00000113593), PPIL4 (ENSG00000131013), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), CWC27 (ENSG00000153015), PPIB (ENSG00000166794), PPIC (ENSG00000168938), PPID (ENSG00000171497), PPIH (ENSG00000171960), PPIL6 (ENSG00000185250), PPIA (ENSG00000196262), PPIAL4G (ENSG00000236334), PPIL3 (ENSG00000240344), PPIAL4A (ENSG00000263353), PPIAL4H (ENSG00000270339), PPIAL4E (ENSG00000271567), PPIAL4F (ENSG00000279782), PPIAL4C (ENSG00000288867), PPIAL4D (ENSG00000289549)
Protein
Protein identifiers
NK-tumor recognition protein — P30414 (reviewed: P30414)
Alternative names: Natural-killer cells cyclophilin-related protein, Peptidyl-prolyl cis-trans isomerase NKTR, Rotamase
All UniProt accessions (3): P30414, A8K7K2, C9JMM5
UniProt curated annotations — full annotation on UniProt →
Function. PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Component of a putative tumor-recognition complex involved in the function of NK cells.
Subcellular location. Cell membrane.
Activity regulation. Inhibited by cyclosporin A (CsA).
RefSeq proteins (4): NP_001336053, NP_001336054, NP_001336055, NP_005376* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002130 | Cyclophilin-type_PPIase_dom | Domain |
| IPR020892 | Cyclophilin-type_PPIase_CS | Conserved_site |
| IPR029000 | Cyclophilin-like_dom_sf | Homologous_superfamily |
Pfam: PF00160
Catalyzed reactions (Rhea), 1 shown:
- [protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0) (RHEA:16237)
UniProt features (89 total): compositionally biased region 28, modified residue 16, cross-link 13, strand 11, region of interest 7, turn 5, sequence variant 4, helix 3, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2HE9 | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P30414-F1 | 43.87 | 0.11 |
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 (29): 379, 401, 416, 463, 471, 613, 648, 866, 887, 889, 891, 907, 1077, 1146, 1155, 1203, 323, 578, 581, 639 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 183 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, AMIT_EGF_RESPONSE_60_HELA, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_PROTEIN_MATURATION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_206, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, chr3p22, GOBP_PROTEIN_FOLDING, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, BASAKI_YBX1_TARGETS_DN, SCHLOSSER_SERUM_RESPONSE_AUGMENTED_BY_MYC, CHANDRAN_METASTASIS_UP
GO Biological Process (2): protein folding (GO:0006457), protein peptidyl-prolyl isomerization (GO:0000413)
GO Molecular Function (3): peptidyl-prolyl cis-trans isomerase activity (GO:0003755), cyclosporin A binding (GO:0016018), isomerase activity (GO:0016853)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cellular process | 1 |
| protein maturation | 1 |
| peptidyl-proline modification | 1 |
| cis-trans isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
3084 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NKTR | CLK1 | P49759 | 762 |
| NKTR | IL2RB | P14784 | 735 |
| NKTR | PIN4 | Q9Y237 | 667 |
| NKTR | NOLC1 | Q14978 | 600 |
| NKTR | GRB2 | P29354 | 578 |
| NKTR | SRSF2 | Q01130 | 548 |
| NKTR | MAPRE1 | Q15691 | 540 |
| NKTR | MAPK9 | P45984 | 539 |
| NKTR | IL2 | P01585 | 520 |
| NKTR | ZNF398 | Q8TD17 | 511 |
| NKTR | POLR2A | P24928 | 492 |
| NKTR | CCDC73 | Q6ZRK6 | 433 |
| NKTR | CD8A | P01732 | 431 |
| NKTR | PLCG1 | P19174 | 417 |
| NKTR | CTLA4 | P16410 | 411 |
IntAct
108 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSNK2A1 | EIF3J | psi-mi:“MI:0914”(association) | 0.810 |
| PRPF19 | AQR | psi-mi:“MI:0914”(association) | 0.790 |
| SNRPD2 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.710 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
| PNN | CASC3 | psi-mi:“MI:0914”(association) | 0.640 |
| DHX38 | DHX16 | psi-mi:“MI:0914”(association) | 0.630 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| SNIP1 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZC3H18 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF816 | LRP4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF311 | CENPB | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| WSB2 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF786 | NKTR | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF263 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL13 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| NKTR | RSL1D1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Spred2 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Ccdc9 | ACIN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARRB2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (137): NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Proximity Label-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS), NKTR (Affinity Capture-MS)
ESM2 similar proteins: A0A1I8MUL8, A2AG58, A2AJT9, A6ZWC8, B3LKV0, B5VT41, B9UYK6, C1IWT1, C5IY45, C7GJ78, C8ZIQ5, E7KIY3, E7KVI3, E7M1C7, E7QAA9, E7QLB7, O14269, O23372, O94687, P0CO26, P0CO27, P11596, P30414, P30415, P33419, P97868, Q03063, Q08D57, Q18221, Q1LY77, Q23935, Q24669, Q3UC65, Q3YPH5, Q4R626, Q5LJZ2, Q5R840, Q5RAA7, Q5U2S0, Q66J90
Diamond homologs: A0A0R0H9T5, A2AR02, A8X8D0, D4AY02, O49886, O55035, O74729, O93826, O94273, P0C1H7, P0C1H9, P0C1I1, P0C1I2, P0C1I3, P0C1I7, P0C1I8, P0C1I9, P0CP82, P0CP83, P14088, P14832, P18253, P21568, P21569, P23284, P24367, P24368, P24369, P24525, P25007, P25719, P26882, P30414, P30415, P34790, P34791, P34887, P35627, P52009, P52010
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 135 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 3’-end processing | 10 | 19.5× | 7e-09 |
| Transport of Mature Transcript to Cytoplasm | 5 | 18.8× | 2e-04 |
| mRNA Splicing | 16 | 17.4× | 2e-13 |
| RNA Polymerase II Transcription Termination | 8 | 17.4× | 1e-06 |
| mRNA Splicing - Minor Pathway | 7 | 15.5× | 1e-05 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 10 | 15.1× | 7e-08 |
| Processing of Capped Intron-Containing Pre-mRNA | 17 | 13.8× | 7e-13 |
| mRNA Splicing - Major Pathway | 25 | 13.5× | 5e-19 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 8 | 50.2× | 4e-10 |
| spliceosomal complex assembly | 7 | 34.5× | 2e-07 |
| RNA splicing, via transesterification reactions | 5 | 25.6× | 1e-04 |
| U2-type prespliceosome assembly | 5 | 25.6× | 1e-04 |
| spliceosomal snRNP assembly | 5 | 23.8× | 2e-04 |
| mRNA splicing, via spliceosome | 19 | 14.3× | 5e-14 |
| cytoplasmic translation | 9 | 13.7× | 3e-06 |
| RNA splicing | 16 | 11.6× | 2e-10 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — AML.
Clinical variants and AI predictions
ClinVar
173 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 155 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3305 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:42601060:GCCGG:G | donor_gain | 1.0000 |
| 3:42617568:A:AG | acceptor_gain | 1.0000 |
| 3:42617568:AGTT:A | acceptor_gain | 1.0000 |
| 3:42617569:G:GA | acceptor_gain | 1.0000 |
| 3:42617569:GTT:G | acceptor_gain | 1.0000 |
| 3:42617569:GTTG:G | acceptor_gain | 1.0000 |
| 3:42619055:T:G | donor_gain | 1.0000 |
| 3:42620521:T:TA | acceptor_gain | 1.0000 |
| 3:42620522:G:A | acceptor_gain | 1.0000 |
| 3:42621517:G:GG | donor_gain | 1.0000 |
| 3:42630073:G:GG | donor_gain | 1.0000 |
| 3:42630454:T:TA | acceptor_gain | 1.0000 |
| 3:42630465:T:G | acceptor_gain | 1.0000 |
| 3:42631169:AG:A | acceptor_gain | 1.0000 |
| 3:42631170:GG:G | acceptor_gain | 1.0000 |
| 3:42631312:AGATG:A | donor_gain | 1.0000 |
| 3:42631313:GATG:G | donor_gain | 1.0000 |
| 3:42631313:GATGG:G | donor_gain | 1.0000 |
| 3:42631315:TGGT:T | donor_loss | 1.0000 |
| 3:42631318:TAA:T | donor_loss | 1.0000 |
| 3:42632596:A:AG | acceptor_gain | 1.0000 |
| 3:42632599:A:G | acceptor_gain | 1.0000 |
| 3:42632600:G:GA | acceptor_gain | 1.0000 |
| 3:42632771:G:GT | donor_gain | 1.0000 |
| 3:42632797:GAA:G | donor_gain | 1.0000 |
| 3:42632820:AAGGG:A | donor_loss | 1.0000 |
| 3:42632821:AGGG:A | donor_loss | 1.0000 |
| 3:42632822:GG:G | donor_gain | 1.0000 |
| 3:42632822:GGGTA:G | donor_loss | 1.0000 |
| 3:42632823:GG:G | donor_gain | 1.0000 |
AlphaMissense
9614 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:42617585:T:C | F25S | 1.000 |
| 3:42617591:T:C | L27P | 1.000 |
| 3:42617605:T:C | C32R | 1.000 |
| 3:42617606:G:A | C32Y | 1.000 |
| 3:42617607:T:G | C32W | 1.000 |
| 3:42617619:C:G | C36W | 1.000 |
| 3:42617625:C:A | N38K | 1.000 |
| 3:42617625:C:G | N38K | 1.000 |
| 3:42617626:T:C | F39L | 1.000 |
| 3:42617627:T:C | F39S | 1.000 |
| 3:42617628:C:A | F39L | 1.000 |
| 3:42617628:C:G | F39L | 1.000 |
| 3:42617636:T:C | L42S | 1.000 |
| 3:42617638:T:C | C43R | 1.000 |
| 3:42617639:G:A | C43Y | 1.000 |
| 3:42617640:C:G | C43W | 1.000 |
| 3:42619056:T:C | L57S | 1.000 |
| 3:42619077:T:C | F64S | 1.000 |
| 3:42619079:C:G | H65D | 1.000 |
| 3:42619082:C:A | R66S | 1.000 |
| 3:42619083:G:C | R66P | 1.000 |
| 3:42619097:T:C | F71L | 1.000 |
| 3:42619098:T:C | F71S | 1.000 |
| 3:42619099:T:A | F71L | 1.000 |
| 3:42619099:T:G | F71L | 1.000 |
| 3:42619109:G:C | G75R | 1.000 |
| 3:42619112:G:A | G76R | 1.000 |
| 3:42619112:G:C | G76R | 1.000 |
| 3:42619112:G:T | G76W | 1.000 |
| 3:42619113:G:A | G76E | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000096676 (3:42635362 G>T), RS1000222763 (3:42649071 C>T), RS1000294934 (3:42617421 C>A,T), RS1000315928 (3:42608563 G>A), RS1000346802 (3:42617851 T>A), RS1000389281 (3:42600621 C>A), RS1000394085 (3:42628253 T>C), RS1000408730 (3:42639791 C>G), RS1000463444 (3:42648808 C>T), RS1000496822 (3:42601449 T>C), RS1000561597 (3:42647604 C>T), RS1000604012 (3:42640344 C>T), RS1000616995 (3:42610804 A>C), RS1000646084 (3:42625426 TG>T,TGG), RS1000773441 (3:42600951 T>A,C)
Disease associations
OMIM: gene MIM:161565 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, decreases methylation | 4 |
| bisphenol A | increases expression, affects cotreatment, decreases expression | 2 |
| sodium arsenite | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| geldanamycin | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | decreases expression, affects cotreatment | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
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.