NUDC

Summary

NUDC (nuclear distribution C, dynein complex regulator, HGNC:8045) is a protein-coding gene on chromosome 1p36.11, encoding Nuclear migration protein nudC (Q9Y266). Plays a role in neurogenesis and neuronal migration. It is a common-essential gene (DepMap: required in 92.8% of cancer cell lines).

This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2.

Source: NCBI Gene 10726 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 70 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 92.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_006600

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8045
Approved symbol	NUDC
Name	nuclear distribution C, dynein complex regulator
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000090273
Ensembl biotype	protein_coding
OMIM	610325
Entrez	10726

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 32 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000321265, ENST00000435827, ENST00000452707, ENST00000484772, ENST00000857402, ENST00000857403, ENST00000857404, ENST00000857405, ENST00000857406, ENST00000857407, ENST00000857408, ENST00000857409, ENST00000857410, ENST00000857411, ENST00000857412, ENST00000857413, ENST00000857414, ENST00000857415, ENST00000918126, ENST00000918127, ENST00000918128, ENST00000918129, ENST00000918130, ENST00000918131, ENST00000918132, ENST00000918133, ENST00000918134, ENST00000963190, ENST00000963191, ENST00000963192, ENST00000963193, ENST00000963194, ENST00000963195

RefSeq mRNA: 1 — MANE Select: NM_006600 NM_006600

CCDS: CCDS292

Canonical transcript exons

ENST00000321265 — 9 exons

Exon	Start	End
ENSE00000872663	26941457	26941660
ENSE00001222797	26945568	26945686
ENSE00001222803	26945390	26945473
ENSE00001222807	26942871	26943065
ENSE00001222819	26941753	26941818
ENSE00001390272	26921743	26921929
ENSE00001423146	26946130	26946871
ENSE00003537130	26924089	26924166
ENSE00003790833	26942660	26942776

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 154.6012 / max 952.8712, expressed in 1828 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1670	153.1984	1828
1671	1.3838	821
1673	0.0190	8

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.73	gold quality
right uterine tube	UBERON:0001302	98.68	gold quality
right adrenal gland	UBERON:0001233	98.33	gold quality
right adrenal gland cortex	UBERON:0035827	98.21	gold quality
left adrenal gland	UBERON:0001234	98.15	gold quality
left adrenal gland cortex	UBERON:0035825	98.10	gold quality
right frontal lobe	UBERON:0002810	97.95	gold quality
adrenal cortex	UBERON:0001235	97.90	gold quality
anterior cingulate cortex	UBERON:0009835	97.81	gold quality
cingulate cortex	UBERON:0003027	97.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.69	gold quality
medial globus pallidus	UBERON:0002477	97.60	gold quality
adrenal gland	UBERON:0002369	97.48	gold quality
amygdala	UBERON:0001876	97.44	gold quality
prefrontal cortex	UBERON:0000451	97.32	gold quality
apex of heart	UBERON:0002098	97.30	gold quality
right testis	UBERON:0004534	97.30	gold quality
left testis	UBERON:0004533	97.25	gold quality
nucleus accumbens	UBERON:0001882	97.21	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.20	gold quality
right atrium auricular region	UBERON:0006631	97.16	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.13	gold quality
lower esophagus	UBERON:0013473	97.11	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.07	gold quality
cerebellar cortex	UBERON:0002129	97.06	gold quality
cerebellar hemisphere	UBERON:0002245	97.06	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.06	gold quality
globus pallidus	UBERON:0001875	97.01	gold quality
body of stomach	UBERON:0001161	97.00	gold quality
putamen	UBERON:0001874	96.87	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	27.21
E-MTAB-9067	yes	21.57
E-GEOD-130148	yes	12.60
E-CURD-114	yes	11.56
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

35 targeting NUDC, 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-4481	100.00	66.42	1669
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-8066	99.05	68.66	1532
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-194-5P	99.01	69.65	1465
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-5189-5P	97.72	66.96	1814

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 92.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 18)

• functions in mitosis and cytokinesis, in part by regulating microtubule organization at the midzone and midbody (PMID:12679384)
• PLK1 phosphorylation of NudC plays an essential role in cytokinesis. (PMID:12852857)
• Overexpression of NUDC inhibits prostatic neoplasm growth. (PMID:14676831)
• In this study, we report the binding of hNUDC to the extracellular domain of the thrombopoietin receptor (Mpl) as detected by the yeast two-hybrid system, GST pull-down, and co-immunoprecipitation. (PMID:16088917)
• NudC functions as both a substrate and a spatial regulator of Plk1 at the kinetochore to promote chromosome congression. (PMID:16860740)
• hNUDC induced significant changes in cellular morphology in NIH 3T3 cells stably transfected with pMpl-EGFP. Interestingly, these morphological changes were characteristic of cells undergoing megakaryocyte differentiation. (PMID:17658515)
• hNUDC induced a sustained activation of the extracellular signal-regulated protein kinases-1 and -2 (ERK1/2) as well as p38 mitogen-activated kinase (p38 MAPK) pathways (PMID:18288130)
• Mpl plays an important and specific role in mediating hNUDC-induced megakaryocyte proliferation and differentiation. (PMID:19560457)
• separate binding sites on the Mpl receptor for TPO and hNUDC identified (PMID:20529857)
• NudC may be involved in the regulation of LIS1 stability by its chaperone function. (PMID:20675372)
• Human nuclear distribution C is found to be closely associated with cell malignant hyperplasia in nasopharyngeal carcinoma. (PMID:21473139)
• NudC acetylation/deacetylation regulates mitotic progression and NudC deacetylation, likely through HDAC3, is critical for spindle function and chromosome congression. (PMID:24069238)
• the upregulation of miR-194 affects the hNUDC expression, leading to a downregulated expression of Mpl/ERK pathway proteins, and suppresses the mitosis and proliferation of NSCLC cells. (PMID:27035759)
• NudC is co-localized with Aurora B at the midbody and co-immunoprecipitated with Aurora B in mitosis. results suggest that that dynamic phosphorylation of NudC by Aurora B regulates cytokinesis. (PMID:27074040)
• High expression of NUDC is associated with prostate cancer. (PMID:27959429)
• N-Acetyl-D-Glucosamine Kinase Interacts with NudC and Lis1 in Dynein Motor Complex and Promotes Cell Migration. (PMID:33374456)
• Transcriptome Analysis and the Prognostic Role of NUDC in Diffuse and Intestinal Gastric Cancer. (PMID:34060350)
• NudC guides client transfer between the Hsp40/70 and Hsp90 chaperone systems. (PMID:35063133)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nudc	ENSDARG00000104837
mus_musculus	Nudc	ENSMUSG00000028851
rattus_norvegicus	Nudc	ENSRNOG00000051720
drosophila_melanogaster	nudC	FBGN0021768
caenorhabditis_elegans		WBGENE00003829

Paralogs (2): NUDCD3 (ENSG00000015676), NUDCD2 (ENSG00000170584)

Protein

Protein identifiers

Nuclear migration protein nudC — Q9Y266 (reviewed: Q9Y266)

Alternative names: Nuclear distribution protein C homolog

All UniProt accessions (3): Q9Y266, A0A0A0MSS4, A0A0A0MSU9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in neurogenesis and neuronal migration. Necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Necessary for cytokinesis and cell proliferation.

Subunit / interactions. Interacts with PAFAH1B1. Interacts with PLK1. Part of a complex containing PLK1, NUDC, dynein and dynactin. Interacts with DCDC1. Interacts with EML4 (via WD repeats).

Subcellular location. Cytoplasm. Cytoskeleton. Nucleus. Spindle. Midbody.

Tissue specificity. Ubiquitous. Highly expressed in fetal liver, kidney, lung and brain. Highly expressed in adult pancreas, kidney, skeletal muscle, liver, lung, placenta, prostate, brain and heart.

Post-translational modifications. Reversibly phosphorylated on serine residues during the M phase of the cell cycle. Phosphorylation on Ser-274 and Ser-326 is necessary for correct formation of mitotic spindles and chromosome separation during mitosis. Phosphorylated by PLK and other kinases.

Induction. Up-regulated in actively dividing hematopoietic precursor cells. Up-regulated in cultured erythroleukemia TF-1 cells by granulocyte-macrophage colony-stimulating factor. Strongly down-regulated during maturation of erythroid precursor cells.

Similarity. Belongs to the nudC family.

RefSeq proteins (1): NP_006591* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007052	CS_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR025934	NudC_N_dom	Domain
IPR032572	NuDC	Domain
IPR037898	NudC_fam	Family

Pfam: PF04969, PF14050, PF16273

UniProt features (45 total): modified residue 13, sequence conflict 8, strand 8, helix 5, region of interest 3, mutagenesis site 2, chain 1, domain 1, turn 1, coiled-coil region 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3QOR	X-RAY DIFFRACTION	1.75
7NDX	X-RAY DIFFRACTION	2.54

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y266-F1	81.83	0.50

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 (13): 136, 139, 145, 239, 259, 260, 274, 277, 285, 298, 326, 60, 108

Mutagenesis-validated functional residues (2):

Position	Phenotype
274	abolishes phosphorylation by plk1; when associated with a-326.
326	abolishes phosphorylation by plk1; when associated with a-274.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-9696270	RND2 GTPase cycle

MSigDB gene sets: 237 (showing top): GOBP_CHROMOSOME_ORGANIZATION, MORF_DNMT1, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, MORF_ESPL1, MORF_BUB1, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_CHROMOSOME_LOCALIZATION, MORF_RRM1, MORF_HDAC2, USF_C, EFC_Q6, GOBP_PROTEIN_MATURATION, GOBP_ORGANELLE_FISSION, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, MYCMAX_01

GO Biological Process (7): protein folding (GO:0006457), mitotic spindle organization (GO:0007052), mitotic metaphase chromosome alignment (GO:0007080), nuclear migration (GO:0007097), response to peptide hormone (GO:0043434), cell division (GO:0051301), establishment of organelle localization (GO:0051656)

GO Molecular Function (3): cadherin binding (GO:0045296), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)

GO Cellular Component (10): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), spindle (GO:0005819), cytosol (GO:0005829), microtubule (GO:0005874), midbody (GO:0030496), mitotic spindle (GO:0072686), nucleus (GO:0005634), cytoskeleton (GO:0005856), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Mitotic Prometaphase	2
Amplification of signal from the kinetochores	1
Mitotic Anaphase	1
RHO GTPase Effectors	1
M Phase	1
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cellular process	2
mitotic cell cycle	2
microtubule cytoskeleton	2
intracellular membraneless organelle	2
protein maturation	1
spindle organization	1
microtubule cytoskeleton organization involved in mitosis	1
mitotic sister chromatid segregation	1
metaphase chromosome alignment	1
mitotic cell cycle process	1
intracellular transport	1
nucleus localization	1
establishment of organelle localization	1
response to hormone	1
response to nitrogen compound	1
response to oxygen-containing compound	1
establishment of localization	1
organelle localization	1
cell adhesion molecule binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
polymeric cytoskeletal fiber	1
spindle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2486 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NUDC	PAFAH1B1	P43034	924
NUDC	DYNC1H1	Q14204	869
NUDC	PLK1	P53350	867
NUDC	PTGES3	Q15185	811
NUDC	NDE1	Q9NXR1	715
NUDC	NDEL1	Q9GZM8	714
NUDC	NUDCD2	Q8WVJ2	704
NUDC	MPL	P40238	693
NUDC	PIH1D1	Q9NWS0	610
NUDC	DCTN1	Q14203	575
NUDC	NUDT12	Q9BQG2	537
NUDC	CHORDC1	Q9UHD1	522
NUDC	NUDCD1	Q96RS6	505
NUDC	CLIP1	P30622	482
NUDC	HSP90AB1	P08238	479

IntAct

257 interactions, top by confidence:

A	B	Type	Score
CHAF1B	CBX5	psi-mi:“MI:0914”(association)	0.790
RPGR	NPHP4	psi-mi:“MI:2364”(proximity)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NUDC	DNAJA2	psi-mi:“MI:0915”(physical association)	0.710
MAP4K1	HSP90AB1	psi-mi:“MI:0914”(association)	0.670
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
NUDC	DNAJB1	psi-mi:“MI:0914”(association)	0.640
FBXW7	MYCBP2	psi-mi:“MI:0914”(association)	0.640
LLGL1	DNAJA2	psi-mi:“MI:0914”(association)	0.640
IFT172	IFT56	psi-mi:“MI:0914”(association)	0.590
PPP5C	IRS4	psi-mi:“MI:0914”(association)	0.570
PPP5C	IRS4	psi-mi:“MI:2364”(proximity)	0.570
Cdc20	BUB1	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	NUDC	psi-mi:“MI:0915”(physical association)	0.560
NUDC	ATN1	psi-mi:“MI:0915”(physical association)	0.560
NUDC	GIPC1	psi-mi:“MI:0915”(physical association)	0.560
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
MAP4K1	HSP90AA1	psi-mi:“MI:0914”(association)	0.530

BioGRID (440): NUDC (Affinity Capture-MS), NUDC (Affinity Capture-MS), NUDC (Affinity Capture-Western), NUDC (Affinity Capture-MS), NUDC (Affinity Capture-RNA), NUDC (Affinity Capture-RNA), NUDC (Affinity Capture-RNA), NUDC (Affinity Capture-MS), NUDC (Affinity Capture-MS), NUDC (Affinity Capture-MS), NUDC (Affinity Capture-MS), ADAM9 (Co-fractionation), CAST (Co-fractionation), CCDC6 (Co-fractionation), GAPDH (Co-fractionation)

ESM2 similar proteins: A1A4P5, A1DGS2, A2R7Z2, B0BN18, O04350, O35685, O70591, O75347, O76031, P48427, P48428, P50502, P50503, P80584, Q07866, Q08851, Q08DB5, Q0VCY1, Q13190, Q15691, Q17QG2, Q3ZBD9, Q4SPU8, Q5D016, Q5R581, Q5R601, Q5R7N3, Q5R7Z5, Q5RF31, Q5U2U0, Q5ZLC7, Q5ZLF0, Q61166, Q63525, Q66HR2, Q66T82, Q68FJ8, Q6P848, Q6V291, Q8K1E0

Diamond homologs: O35685, O60166, P17624, Q17QG2, Q54M64, Q5ZIN1, Q63525, Q9LV09, Q9STN7, Q9VVA6, Q9Y266, Q5RB75, Q8IVD9, Q503C8, Q8R1N4, Q5M823, Q8WVJ2, Q9CQ48

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
PLK1	“up-regulates activity”	NUDC	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 205 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
Activation of AMPK downstream of NMDARs	6	15.9×	5e-04
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	11	14.8×	1e-07
RHO GTPases activate IQGAPs	5	12.0×	4e-03
Selective autophagy	6	11.6×	2e-03
Intraflagellar transport	8	11.1×	2e-04
Chaperonin-mediated protein folding	5	10.4×	8e-03
Aggrephagy	6	10.3×	3e-03
Protein folding	5	9.0×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of telomere maintenance via telomerase	5	19.4×	2e-03
protein refolding	5	16.5×	3e-03
response to heat	5	11.2×	9e-03
response to unfolded protein	6	9.6×	6e-03
mitotic spindle organization	6	8.6×	9e-03
smoothened signaling pathway	7	6.7×	9e-03
protein folding	12	6.6×	2e-04
microtubule cytoskeleton organization	9	5.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

70 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1876 predictions. Top by Δscore:

Variant	Effect	Δscore
1:26912320:T:TA	donor_gain	1.0000
1:26921925:AGGAG:A	donor_loss	1.0000
1:26921926:GGAG:G	donor_gain	1.0000
1:26921926:GGAGG:G	donor_loss	1.0000
1:26921927:GAGG:G	donor_gain	1.0000
1:26921927:GAGGT:G	donor_loss	1.0000
1:26921929:GGTA:G	donor_loss	1.0000
1:26921930:GTAAC:G	donor_loss	1.0000
1:26924085:TCAGC:T	acceptor_loss	1.0000
1:26924086:CA:C	acceptor_loss	1.0000
1:26924087:A:AC	acceptor_loss	1.0000
1:26924087:A:AG	acceptor_gain	1.0000
1:26924087:AGCTT:A	acceptor_gain	1.0000
1:26924088:G:GT	acceptor_gain	1.0000
1:26924088:GC:G	acceptor_gain	1.0000
1:26924088:GCT:G	acceptor_gain	1.0000
1:26924088:GCTT:G	acceptor_gain	1.0000
1:26924088:GCTTG:G	acceptor_gain	1.0000
1:26924163:GAAG:G	donor_gain	1.0000
1:26924164:AAGGT:A	donor_loss	1.0000
1:26924165:AGGTA:A	donor_loss	1.0000
1:26924166:GGTA:G	donor_loss	1.0000
1:26924167:G:A	donor_loss	1.0000
1:26924167:G:GG	donor_gain	1.0000
1:26924168:T:A	donor_loss	1.0000
1:26941455:A:AG	acceptor_gain	1.0000
1:26941456:G:GA	acceptor_gain	1.0000
1:26941456:GC:G	acceptor_gain	1.0000
1:26941456:GCT:G	acceptor_gain	1.0000
1:26941456:GCTT:G	acceptor_gain	1.0000

AlphaMissense

2211 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:26945405:T:A	W253R	1.000
1:26945405:T:C	W253R	1.000
1:26945407:G:C	W253C	1.000
1:26945407:G:T	W253C	1.000
1:26945569:T:A	L276Q	1.000
1:26945578:T:A	L279Q	1.000
1:26945578:T:C	L279P	1.000
1:26945593:G:C	R284P	1.000
1:26945602:T:A	V287E	1.000
1:26945611:T:C	M290T	1.000
1:26946131:T:C	F316L	1.000
1:26946132:T:C	F316S	1.000
1:26946133:C:A	F316L	1.000
1:26946133:C:G	F316L	1.000
1:26946143:C:G	H320D	1.000
1:26924120:G:C	R38P	0.999
1:26942727:G:A	G166E	0.999
1:26942750:T:A	W174R	0.999
1:26942750:T:C	W174R	0.999
1:26943015:A:C	S231R	0.999
1:26943017:C:A	S231R	0.999
1:26943017:C:G	S231R	0.999
1:26943021:T:A	W233R	0.999
1:26943021:T:C	W233R	0.999
1:26945406:G:C	W253S	0.999
1:26945408:T:A	W254R	0.999
1:26945408:T:C	W254R	0.999
1:26945590:C:T	T283I	0.999
1:26945592:C:A	R284S	0.999
1:26945601:G:A	V287M	0.999

dbSNP variants (sampled 300 via entrez): RS1000027339 (1:26929358 A>G), RS1000030888 (1:26917321 G>C), RS1000046580 (1:26945345 G>A), RS1000076309 (1:26945020 CAAG>C), RS1000097720 (1:26916772 T>C), RS1000114546 (1:26935172 G>A,C), RS1000165509 (1:26934912 C>T), RS1000267444 (1:26929036 A>G,T), RS1000312201 (1:26915871 T>A,C), RS1000324343 (1:26898924 C>G), RS1000378599 (1:26898641 C>A), RS1000522273 (1:26921522 G>A,C,T), RS1000697256 (1:26915188 G>A), RS1000814378 (1:26940381 A>C,T), RS1000827087 (1:26908200 CACAG>C)

Disease associations

OMIM: gene MIM:610325 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004607_198	Plateletcrit	2.000000e-12
GCST007611_16	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	6.000000e-12
GCST012232_1	Lipoprotein (a) levels	8.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0006925	lipoprotein A measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725183 (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
6.29	Kd	511.4	nM	CHEMBL5653589
6.29	ED50	511.4	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 8 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	2148897: Binding affinity to human NUDC incubated for 45 mins by Kinobead based pull down assay	kd	0.5114	uM

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance, increases expression	3
Cadmium Chloride	affects expression, increases abundance, increases expression	3
bisphenol A	decreases expression	2
Tobacco Smoke Pollution	affects expression	2
Valproic Acid	affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
dicrotophos	increases expression	1
deoxynivalenol	increases expression	1
pyrogallol 1,3-dimethyl ether	decreases expression, affects localization, increases expression, affects cotreatment	1
sodium arsenite	affects expression	1
perfluorooctanoic acid	affects cotreatment, decreases expression	1
ochratoxin A	increases expression	1
coumarin	decreases phosphorylation	1
phenethyl isothiocyanate	affects binding	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	increases expression	1
2-palmitoylglycerol	increases expression	1
nickel acetate	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
bisphenol B	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	increases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651939	Binding	Binding affinity to human NUDC 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

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.