NKD1
gene geneOn this page
Summary
NKD1 (NKD inhibitor of Wnt signaling pathway 1, HGNC:17045) is a protein-coding gene on chromosome 16q12.1, encoding Protein naked cuticle homolog 1 (Q969G9). Cell autonomous antagonist of the canonical Wnt signaling pathway.
In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.
Source: NCBI Gene 85407 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 93 total
- MANE Select transcript:
NM_033119
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17045 |
| Approved symbol | NKD1 |
| Name | NKD inhibitor of Wnt signaling pathway 1 |
| Location | 16q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140807 |
| Ensembl biotype | protein_coding |
| OMIM | 607851 |
| Entrez | 85407 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 1 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000268459, ENST00000564336, ENST00000566396
RefSeq mRNA: 1 — MANE Select: NM_033119
NM_033119
CCDS: CCDS10743
Canonical transcript exons
ENST00000268459 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945132 | 50621602 | 50621708 |
| ENSE00000945133 | 50625485 | 50625580 |
| ENSE00001293274 | 50633192 | 50649249 |
| ENSE00001320873 | 50548396 | 50548578 |
| ENSE00003482996 | 50632281 | 50632408 |
| ENSE00003500109 | 50608294 | 50608360 |
| ENSE00003522749 | 50630826 | 50630910 |
| ENSE00003531012 | 50549422 | 50549555 |
| ENSE00003598144 | 50630186 | 50630333 |
| ENSE00003680815 | 50548717 | 50548749 |
Expression profiles
Bgee: expression breadth ubiquitous, 189 present calls, max score 88.43.
FANTOM5 (CAGE): breadth broad, TPM avg 5.4084 / max 1093.6095, expressed in 609 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154010 | 4.6946 | 545 |
| 154025 | 0.2518 | 5 |
| 153999 | 0.2236 | 44 |
| 154009 | 0.1707 | 55 |
| 154018 | 0.0355 | 12 |
| 153998 | 0.0321 | 15 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lung | UBERON:0002167 | 88.43 | gold quality |
| saphenous vein | UBERON:0007318 | 86.63 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 86.43 | gold quality |
| popliteal artery | UBERON:0002250 | 85.09 | gold quality |
| tibial artery | UBERON:0007610 | 85.06 | gold quality |
| endothelial cell | CL:0000115 | 84.20 | silver quality |
| sural nerve | UBERON:0015488 | 83.28 | gold quality |
| aorta | UBERON:0000947 | 82.58 | gold quality |
| lower lobe of lung | UBERON:0008949 | 82.18 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 81.18 | gold quality |
| lower esophagus | UBERON:0013473 | 81.13 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 80.94 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 79.37 | gold quality |
| thoracic aorta | UBERON:0001515 | 79.27 | gold quality |
| ascending aorta | UBERON:0001496 | 78.97 | gold quality |
| urethra | UBERON:0000057 | 78.88 | gold quality |
| lung | UBERON:0002048 | 78.68 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 78.41 | gold quality |
| right coronary artery | UBERON:0001625 | 78.09 | gold quality |
| upper lobe of lung | UBERON:0008948 | 78.08 | gold quality |
| tibia | UBERON:0000979 | 77.98 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 77.95 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 77.83 | gold quality |
| buccal mucosa cell | CL:0002336 | 77.46 | gold quality |
| mucosa of stomach | UBERON:0001199 | 77.26 | gold quality |
| spinal cord | UBERON:0002240 | 77.15 | gold quality |
| left coronary artery | UBERON:0001626 | 76.84 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 76.73 | gold quality |
| coronary artery | UBERON:0001621 | 76.49 | gold quality |
| caput epididymis | UBERON:0004358 | 76.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.18 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
289 targeting NKD1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
Literature-anchored findings (GeneRIF, showing 14)
- Mutations in the human naked cuticle homolog NKD1 found in colorectal cancer alter Wnt/Dvl/beta-catenin signaling (PMID:19956716)
- Reduced NKD1 protein expression correlates with a poor prognosis in NSCLC (PMID:21599923)
- Suggest that NKD1 plays an important role in invasion in human breast cancer and it appears to be a potential prognostic marker for patients with breast cancer. (PMID:26097589)
- The NKD1/Rac1 feedback loop regulates the invasion and migration ability of hepatocellular carcinoma cells. (PMID:27231134)
- Low NKD1 expression is associated with hepatocellular carcinoma. (PMID:27507614)
- Silencing of NKD1 significantly inhibited the proliferation and invasion of osteosarcoma cells. (PMID:28032380)
- Data indicate that microRNA miR-744 activated Wnt/beta-catenin pathway by targeting multiple negative regulators of Wnt/beta-catenin signaling, including SFRP1, GSK3beta, TLE3 and NKD1, and that NKD1 is a major functional target of miR-744. (PMID:28107193)
- HNF1A-AS1 promoted HCC cell proliferation by repressing the NKD1 and p21 expression. (PMID:28292020)
- NKD1 showed significantly increased level after induction chemotherapy achieved complete remission in follow-up paired acute myeloid leukemia patients ( p < 0.001). These findings indicated that reduced NKD1 expression is associated with unfavorable clinical outcome in cytogenetically normal acute myeloid leukemia. (PMID:28443469)
- the downregulation of NKD1 may be involved in the proliferation and migration of osteosarcoma cells through the activation of the canonical Wnt signaling pathway. (PMID:29115501)
- miR-532 is highly expressed in colorectal cancer cells and directly inhibits NKD1 expression (PMID:31472047)
- Let-7b-5p inhibits colon cancer progression by prohibiting APC ubiquitination degradation and the Wnt pathway by targeting NKD1. (PMID:36445120)
- Clinical Significance of NKD Inhibitor of WNT Signaling Pathway 1 (NKD1) in Glioblastoma. (PMID:36969985)
- [NKD1 promotes glucose uptake in colon cancer cells by activating YWHAE transcription]. (PMID:37202194)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nkd1 | ENSDARG00000020053 |
| mus_musculus | Nkd1 | ENSMUSG00000031661 |
| drosophila_melanogaster | nkd | FBGN0002945 |
| drosophila_melanogaster | PIP82 | FBGN0024943 |
Paralogs (1): NKD2 (ENSG00000145506)
Protein
Protein identifiers
Protein naked cuticle homolog 1 — Q969G9 (reviewed: Q969G9)
All UniProt accessions (1): Q969G9
UniProt curated annotations — full annotation on UniProt →
Function. Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity.
Subunit / interactions. Interacts with DVL1, DVL2, DVL3 and PPP2R3A.
Subcellular location. Cell membrane. Cytoplasm.
Tissue specificity. Expressed in colon, heart, kidney, leukocyte, liver, lung, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine and spleen.
Induction. Expression is induced by activation of the Wnt signaling pathway.
Similarity. Belongs to the NKD family.
RefSeq proteins (1): NP_149110* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR040140 | Nkd-like | Family |
UniProt features (22 total): region of interest 7, compositionally biased region 5, binding site 5, initiator methionine 1, chain 1, domain 1, lipid moiety-binding region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969G9-F1 | 55.34 | 0.04 |
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 (5): 144; 146; 148; 150; 155
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 175 (showing top):
GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, TAATAAT_MIR126, HNF3ALPHA_Q6, GOBP_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEUROGENESIS, TAL1ALPHAE47_01, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, CAGCTG_AP4_Q5
GO Biological Process (12): eye photoreceptor cell differentiation (GO:0001754), axis elongation (GO:0003401), somatic muscle development (GO:0007525), Wnt signaling pathway (GO:0016055), negative regulation of Wnt signaling pathway (GO:0030178), positive regulation of MAPK cascade (GO:0043410), positive regulation of protein catabolic process (GO:0045732), convergent extension (GO:0060026), negative regulation of canonical Wnt signaling pathway (GO:0090090), regulation of cell migration involved in somitogenic axis elongation (GO:0090249), positive regulation of non-canonical Wnt signaling pathway (GO:2000052), positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)
GO Molecular Function (4): calcium ion binding (GO:0005509), PDZ domain binding (GO:0030165), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): protein phosphatase type 2A complex (GO:0000159), 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 |
| photoreceptor cell differentiation | 1 |
| eye morphogenesis | 1 |
| developmental growth involved in morphogenesis | 1 |
| muscle structure development | 1 |
| cell surface receptor signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| positive regulation of intracellular signal transduction | 1 |
| positive regulation of catabolic process | 1 |
| protein catabolic process | 1 |
| regulation of protein catabolic process | 1 |
| positive regulation of protein metabolic process | 1 |
| morphogenesis of an epithelium | 1 |
| negative regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| regulation of cell migration | 1 |
| cell migration involved in somitogenic axis elongation | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| non-canonical Wnt signaling pathway | 1 |
| regulation of non-canonical Wnt signaling pathway | 1 |
| Wnt signaling pathway, planar cell polarity pathway | 1 |
| positive regulation of non-canonical Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway, planar cell polarity pathway | 1 |
| metal ion binding | 1 |
| protein domain specific binding | 1 |
| binding | 1 |
| cation binding | 1 |
| protein serine/threonine phosphatase complex | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
864 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NKD1 | DVL1 | O14640 | 889 |
| NKD1 | AXIN2 | Q9Y2T1 | 889 |
| NKD1 | CTNNB1 | P35222 | 724 |
| NKD1 | DKK1 | O94907 | 685 |
| NKD1 | DVL3 | Q92997 | 673 |
| NKD1 | HNF4A | P41235 | 668 |
| NKD1 | TNFRSF19 | Q9NS68 | 640 |
| NKD1 | WNT1 | P04628 | 626 |
| NKD1 | RNF43 | Q68DV7 | 619 |
| NKD1 | NRARP | Q7Z6K4 | 617 |
| NKD1 | DUSP6 | Q16828 | 591 |
| NKD1 | WNT7B | P56706 | 589 |
| NKD1 | FZD1 | Q9UP38 | 584 |
| NKD1 | LFNG | Q8NES3 | 583 |
| NKD1 | VANGL2 | Q9ULK5 | 571 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NKD1 | PPP2R3A | psi-mi:“MI:0915”(physical association) | 0.620 |
| PPP2R3A | NKD1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| NKD1 | PPP2R3A | psi-mi:“MI:0915”(physical association) | 0.580 |
| NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| DVL3 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP5-9 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-9 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKD1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-6 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP12-3 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKD1 | KRTAP2-4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | NKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKD1 | KRTAP9-8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKD1 | MORF4L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NKD1 | PPP2R1A | psi-mi:“MI:0914”(association) | 0.530 |
| NKD1 | DVL3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | KRTAP5-9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | CYSRT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | KRTAP10-6 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | KRTAP12-3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NKD1 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): NKD1 (Affinity Capture-MS), NKD1 (Affinity Capture-RNA), NKD1 (Two-hybrid), DVL3 (Two-hybrid), MORF4L1 (Two-hybrid), KRTAP9-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-6 (Two-hybrid), CYSRT1 (Two-hybrid), KRTAP12-3 (Two-hybrid), KRTAP2-3 (Two-hybrid), KRTAP2-4 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP5-9 (Two-hybrid)
ESM2 similar proteins: A4D2P6, A5PJV8, A6NFD8, D4AE48, O00268, O00287, O35274, O35779, O43566, P04198, P12755, P55199, Q08DA0, Q0D2I5, Q2KJ58, Q504T8, Q5XKK7, Q60698, Q61976, Q6NZ67, Q6P582, Q6R891, Q6T4P5, Q7Z6J2, Q80YR4, Q86UD0, Q86UK7, Q8BXL9, Q8CEG5, Q8R4T5, Q8TF61, Q8VCG9, Q969F2, Q969G9, Q96HZ4, Q96SB3, Q99PV5, Q9BQ61, Q9BUN5, Q9BZE9
Diamond homologs: A4ZNR4, A4ZNR5, Q08AA9, Q16HE8, Q29DJ1, Q2TJA6, Q8VE28, Q969F2, Q969G9, Q99MH6, Q9VVV9, P42325, Q16982, Q75K28, P62760, P62761, P62762, P62763, P62764, Q4R5F7, Q5RD22
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NKD1 | down-regulates | DVL3 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 14 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 |
|---|---|---|---|
| Keratinization | 8 | 40.5× | 2e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
93 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2397 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:50608358:A:T | donor_gain | 1.0000 |
| 16:50621600:A:AG | acceptor_gain | 1.0000 |
| 16:50621600:AGT:A | acceptor_gain | 1.0000 |
| 16:50621601:G:GG | acceptor_gain | 1.0000 |
| 16:50621601:GTG:G | acceptor_gain | 1.0000 |
| 16:50621706:GAA:G | donor_gain | 1.0000 |
| 16:50621708:AG:A | donor_loss | 1.0000 |
| 16:50621709:G:GG | donor_gain | 1.0000 |
| 16:50621709:G:T | donor_loss | 1.0000 |
| 16:50621710:TAA:T | donor_loss | 1.0000 |
| 16:50625483:A:AG | acceptor_gain | 1.0000 |
| 16:50625484:G:GG | acceptor_gain | 1.0000 |
| 16:50625578:GAG:G | donor_gain | 1.0000 |
| 16:50625578:GAGGT:G | donor_loss | 1.0000 |
| 16:50625579:AGG:A | donor_loss | 1.0000 |
| 16:50625581:G:GC | donor_loss | 1.0000 |
| 16:50625582:T:G | donor_loss | 1.0000 |
| 16:50630312:A:T | donor_gain | 1.0000 |
| 16:50630347:GGC:G | donor_gain | 1.0000 |
| 16:50630382:G:GT | donor_gain | 1.0000 |
| 16:50630812:C:CA | acceptor_gain | 1.0000 |
| 16:50630813:G:A | acceptor_gain | 1.0000 |
| 16:50630817:C:A | acceptor_gain | 1.0000 |
| 16:50630909:AGG:A | donor_loss | 1.0000 |
| 16:50630911:G:C | donor_loss | 1.0000 |
| 16:50630912:T:A | donor_loss | 1.0000 |
| 16:50632279:A:AC | acceptor_loss | 1.0000 |
| 16:50632279:AG:A | acceptor_gain | 1.0000 |
| 16:50632280:GG:G | acceptor_gain | 1.0000 |
| 16:50632404:GCCTG:G | donor_gain | 1.0000 |
AlphaMissense
3067 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:50625536:T:C | F140L | 0.998 |
| 16:50625537:T:C | F140S | 0.998 |
| 16:50625538:C:A | F140L | 0.998 |
| 16:50625538:C:G | F140L | 0.998 |
| 16:50625530:T:A | W138R | 0.997 |
| 16:50625530:T:C | W138R | 0.997 |
| 16:50630277:T:C | L185P | 0.997 |
| 16:50630199:T:C | L159S | 0.996 |
| 16:50632353:A:C | R256S | 0.996 |
| 16:50632353:A:T | R256S | 0.996 |
| 16:50632370:T:C | L262P | 0.996 |
| 16:50625532:G:C | W138C | 0.995 |
| 16:50625532:G:T | W138C | 0.995 |
| 16:50632364:T:C | L260S | 0.995 |
| 16:50548735:G:T | R15M | 0.994 |
| 16:50630277:T:A | L185H | 0.994 |
| 16:50548557:G:A | G2R | 0.993 |
| 16:50548557:G:C | G2R | 0.993 |
| 16:50548736:G:C | R15S | 0.993 |
| 16:50548736:G:T | R15S | 0.993 |
| 16:50548749:G:C | G20R | 0.993 |
| 16:50630211:T:A | I163N | 0.993 |
| 16:50632352:G:C | R256T | 0.993 |
| 16:50548557:G:T | G2W | 0.992 |
| 16:50625551:T:C | F145L | 0.992 |
| 16:50625553:T:A | F145L | 0.992 |
| 16:50625553:T:G | F145L | 0.992 |
| 16:50630202:T:C | L160P | 0.992 |
| 16:50632350:G:C | R255S | 0.992 |
| 16:50632350:G:T | R255S | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000008626 (16:50608206 G>A,T), RS1000086635 (16:50582150 A>G), RS1000092462 (16:50647583 C>A,T), RS1000118076 (16:50564153 A>C), RS1000127318 (16:50638074 G>C), RS1000203997 (16:50603621 A>C,G), RS1000215670 (16:50593814 A>T), RS1000218753 (16:50625699 C>A,G,T), RS1000229103 (16:50642792 A>C), RS1000251539 (16:50614747 A>G,T), RS1000312798 (16:50629527 G>C,T), RS1000352582 (16:50635107 C>T), RS1000372614 (16:50613508 C>G,T), RS1000398687 (16:50557621 G>T), RS1000435720 (16:50598012 G>A)
Disease associations
OMIM: gene MIM:607851 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001438_12 | Crohn’s disease | 1.000000e-37 |
| GCST002938_41 | Copper levels | 9.000000e-06 |
| GCST004131_18 | Inflammatory bowel disease | 1.000000e-38 |
| GCST004132_6 | Crohn’s disease | 6.000000e-99 |
| GCST006628_18 | Systolic blood pressure | 3.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, increases methylation | 5 |
| Benzo(a)pyrene | decreases expression, increases methylation | 4 |
| Estradiol | decreases expression, increases expression, affects binding, affects reaction, increases reaction | 3 |
| bisphenol A | affects expression, decreases methylation | 2 |
| trichostatin A | affects cotreatment, increases expression | 2 |
| Vorinostat | decreases expression, affects cotreatment, increases expression | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Niclosamide | decreases reaction, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| pentanal | increases expression | 1 |
| casticin | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| XAV939 | decreases reaction, increases expression | 1 |
| apatinib | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
Cellosaurus cell lines
2 cell lines: 1 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8RC | Ubigene HCT 116 NKD1 KO | Cancer cell line | Male |
| CVCL_D9LB | Ubigene HEK293 NKD1 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.