VRK2

Summary

VRK2 (VRK serine/threonine kinase 2, HGNC:12719) is a protein-coding gene on chromosome 2p16.1, encoding Serine/threonine-protein kinase VRK2 (Q86Y07). Serine/threonine kinase that regulates several signal transduction pathways.

This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity.

Source: NCBI Gene 7444 — RefSeq curated summary.

At a glance

• GWAS associations: 65
• Clinical variants (ClinVar): 107 total
• Druggable target: yes — 4 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_006296

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12719
Approved symbol	VRK2
Name	VRK serine/threonine kinase 2
Location	2p16.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000028116
Ensembl biotype	protein_coding
OMIM	602169
Entrez	7444

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000340157, ENST00000412104, ENST00000417641, ENST00000428021, ENST00000432057, ENST00000435505, ENST00000440705, ENST00000463222, ENST00000478687, ENST00000648897, ENST00000909268, ENST00000909269, ENST00000909270, ENST00000909271, ENST00000909272, ENST00000909273, ENST00000909274, ENST00000909275, ENST00000909276, ENST00000909277, ENST00000916217, ENST00000916218, ENST00000916219, ENST00000916220, ENST00000916221, ENST00000916222, ENST00000970468

RefSeq mRNA: 9 — MANE Select: NM_006296 NM_001130480, NM_001130481, NM_001130482, NM_001130483, NM_001288836, NM_001288837, NM_001288838, NM_001288839, NM_006296

CCDS: CCDS1859, CCDS46291, CCDS46292, CCDS46293

Canonical transcript exons

ENST00000340157 — 13 exons

Exon	Start	End
ENSE00001824250	58046806	58046868
ENSE00003478775	58084881	58084950
ENSE00003495398	58159349	58159871
ENSE00003528742	58086339	58086426
ENSE00003549136	58084089	58084138
ENSE00003607415	58135141	58135199
ENSE00003608283	58123101	58123233
ENSE00003622543	58131808	58131928
ENSE00003630287	58146316	58146474
ENSE00003647961	58139666	58139832
ENSE00003678450	58089631	58089723
ENSE00003715425	58088341	58088446
ENSE00003725336	58048827	58048967

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 92.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0237 / max 325.6449, expressed in 1805 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
20405	14.0890	1769
20403	11.6855	1753
20406	0.7561	361
20397	0.4906	71
20404	0.3813	177
20396	0.3425	68
20407	0.2204	98
20398	0.0487	27
20408	0.0096	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	92.09	gold quality
mononuclear cell	CL:0000842	91.71	gold quality
calcaneal tendon	UBERON:0003701	91.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.38	gold quality
corpus callosum	UBERON:0002336	91.36	gold quality
leukocyte	CL:0000738	91.35	gold quality
heart right ventricle	UBERON:0002080	89.61	gold quality
oviduct epithelium	UBERON:0004804	88.54	gold quality
tendon	UBERON:0000043	88.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.33	gold quality
islet of Langerhans	UBERON:0000006	88.09	gold quality
colonic epithelium	UBERON:0000397	87.90	gold quality
epithelium of nasopharynx	UBERON:0001951	87.86	gold quality
tongue squamous epithelium	UBERON:0006919	87.70	gold quality
rectum	UBERON:0001052	87.67	gold quality
cervix squamous epithelium	UBERON:0006922	86.89	silver quality
esophagus mucosa	UBERON:0002469	86.79	gold quality
parotid gland	UBERON:0001831	86.49	gold quality
adrenal tissue	UBERON:0018303	86.46	gold quality
medial globus pallidus	UBERON:0002477	86.42	gold quality
smooth muscle tissue	UBERON:0001135	86.36	gold quality
pancreas	UBERON:0001264	86.26	gold quality
fallopian tube	UBERON:0003889	86.22	gold quality
lymph node	UBERON:0000029	86.09	gold quality
tonsil	UBERON:0002372	86.07	gold quality
gastrocnemius	UBERON:0001388	86.00	gold quality
bone marrow cell	CL:0002092	85.99	gold quality
body of pancreas	UBERON:0001150	85.95	gold quality
muscle of leg	UBERON:0001383	85.88	gold quality
lower esophagus mucosa	UBERON:0035834	85.86	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.91
E-MTAB-6379	no	2202.25

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFATC2

miRNA regulators (miRDB)

19 targeting VRK2, 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-4533	100.00	69.48	2758
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-425-5P	99.59	67.67	900
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-3117-5P	99.04	67.93	618
HSA-MIR-2117	98.48	67.97	1307
HSA-MIR-1231	95.10	65.63	663

Literature-anchored findings (GeneRIF, showing 35)

• VRK2 induces p53 stabilization by post-translational modification, largely due to threonine 18 phosphorylation in tumor cell lines. (PMID:16704422)
• human VRK2 interacts specifically with EBV BHRF1 and that the interaction is involved in protecting cells from apoptosis (PMID:16963744)
• Data show that TAK1 forms a stable complex with JIP1 and regulates the activation of JNK, which in turn determines the cellular stress response to hypoxia; this activation of TAK1-JIP1-JNK is suppressed by vaccinia-related kinase 2. (PMID:17709393)
• the activity of JIP1-JNK complexes is downregulated by VRK2 in response to interleukin-1beta (PMID:18286207)
• the downregulation of VRK2 protein levels, as a consequence of p53 accumulation, is thus dependent on the levels of the p300/CBP protein available for transcriptional complexes (PMID:18612383)
• Ran is a novel negative regulator of nuclear VRK1 and VRK2 kinase activity, which may vary in different subcellular localizations generating an asymmetric intracellular distribution of kinase activity depending on local protein interactions. (PMID:18617507)
• Data suggest a role for VRK2A in ErbB2-MAPK signaling. (PMID:20679487)
• Common variants at VRK2 show genome-wide significant association with schizophrenia. (PMID:21791550)
• VRK2A can form a high molecular size complex with both MEK1 and KSR1; the KSR1 complex assembled and retained by VRK2A in the endoplasmic reticulum can have a modulatory effect on the signal mediated by MAPK,locally affecting the magnitude of its responses (PMID:22752157)
• Generalized epilepsies implicates susceptibility genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. (PMID:22949513)
• Data from molecular dynamic simulations suggest that bivalent cations play key structural roles in stabilization of VRK1/VRK2; bivalent cations have no obvious effects on VRK3. These kinases are targets in search for antineoplastic agents. [REVIEW] (PMID:23082977)
• This study analyzed 5 genome-wide supported variants in a Han Chinese sample, and the variant rs2312147 at VRK2 showed significant association, which was confirmed in the meta-analysis combining multiple Asian and European. (PMID:23102693)
• Human VRK2 is an active kinase playing a role in regulation of cancer cell invasion through the NFAT pathway and COX-2 expression. (PMID:23105117)
• Low levels of VRK2A causes an increase in mitochondrial Bax protein level, leading to an increase in the release of cytochrome C and caspase activation, detected by PARP processing. (PMID:23449449)
• VRK2 is crucial to regulate the ubiquitination-proteosomal degradation of eukaryotic chaperonin TCP-1 ring complex (PMID:24298020)
• data may provide evidence for the effect of VRK2 on WM connectivity in patients with schizophrenia (PMID:25079070)
• Findings suggest that ubiquitin-specific protease 25 (USP25) as a VRK2 substrate that acts on TRiC deubiquitination. (PMID:25755282)
• Our data provide preliminary evidence that the VRK2 gene might play a major role in the development of SCZ in the Northwest Chinese Han population. (PMID:26345874)
• Reduced VRK2 mRNA levels are involved in the underlying mechanisms in schizophrenia spectrum disorders. (PMID:26941264)
• GSK3beta may inhibit VRK2 catalytic activity by disrupting its flexibility. The inhibition of VRK2 catalytic activity by GSK3beta may also inhibit VRK2-induced degradation of TRiC, which could suppress polyQ-expanded Htt aggregation. (PMID:27377031)
• The data provides further evidence for the genetic contributions of VRK2 rs2312147 to schizophrenia susceptibility especially in Europeans, while further replication analyses in Asian populations are still needed. [meta-analysis] (PMID:27382989)
• VRK1 AND VRK2 expression are predictive of tumor response to neoadjuvant chemoradiation therapy in rectal adenocarcinoma. (PMID:27456229)
• we replicated one known signal in PAX8 (2.6 minutes per allele, 95% CI [1.9, 3.2], P = 5.7x10-16) and identified and replicated two novel associations at VRK2 (2.0 minutes per allele, 95% CI [1.3, 2.7], P = 1.2x10-9; and 1.6 minutes per allele, 95% CI [1.1, 2.2], P = 7.6x10-9) (PMID:27494321)
• The combined analysis confirmed evidence of genome-wide significant associations in the Han Chinese population for three loci, at 2p16.1 (rs1051061, in an exon of VRK2, P=1.14 x 10-12, odds ratio (OR)=1.17), 6p22.1 (rs115070292 in an intron of GABBR1, P=4.96 x 10-10, OR=0.77) and 10q24.32 (rs10883795 in an intron of AS3MT, P=7.94 x 10-10, OR=0.87; rs10883765 at an intron of ARL3, P=3.06 x 10-9, OR=0.87). (PMID:27922604)
• These data support a model in which vaccinia virus B1 and human VRK2 share additional substrates important for the replication of cytoplasmic poxviruses. (PMID:28515294)
• Structural characterization of human vaccinia-related kinases, VRK1 and VRK2, bound to small-molecule inhibitors, has been reported. (PMID:28790404)
• VRK2 is suggested as a candidate gene for neurological disorders through its role in signaling pathway, the neuronal loss and stress response. (PMID:29100046)
• a novel insight into the oncogenic activity of VRK2-Akt complexes in the lysosomes via modulation of autophagy (PMID:29872222)
• our work reveals the regulation of dysbindin by VRK2, providing the association of these two proteins, which are commonly implicated in schizophrenia (PMID:30062698)
• Evaluation of the relationship between VRK2, rs4380187 polymorphisms, and genetic susceptibility to schizophrenia in the Chinese Han population. (PMID:33522046)
• Vaccinia-related kinase 2 blunts sorafenib’s efficacy against hepatocellular carcinoma by disturbing the apoptosis-autophagy balance. (PMID:33875785)
• VRK2 activates TNFalpha/NF-kappaB signaling by phosphorylating IKKbeta in pancreatic cancer. (PMID:35173553)
• VRK1 as a synthetic lethal target in VRK2 promoter-methylated cancers of the nervous system. (PMID:36040810)
• Reduced Vrk2 expression is associated with higher risk of depression in humans and mediates depressive-like behaviors in mice. (PMID:37452335)
• Elucidating the interaction of C-terminal domain of Vaccinia-Related Kinase 2A (VRK2A) with B-cell lymphoma-extra Large (Bcl-xL) to decipher its anti-apoptotic role in cancer. (PMID:37943248)

Cross-species orthologs

68 orthologs

Organism	Symbol	Gene ID
danio_rerio	vrk2	ENSDARG00000021547
mus_musculus	Vrk2	ENSMUSG00000064090
rattus_norvegicus	Vrk2	ENSRNOG00000007864
drosophila_melanogaster	ball	FBGN0027889
drosophila_melanogaster	CG9962	FBGN0031441
caenorhabditis_elegans		WBGENE00007049
caenorhabditis_elegans		WBGENE00007269
caenorhabditis_elegans		WBGENE00007305
caenorhabditis_elegans		WBGENE00007335
caenorhabditis_elegans		WBGENE00007448
caenorhabditis_elegans		WBGENE00007777
caenorhabditis_elegans		WBGENE00007791
caenorhabditis_elegans		WBGENE00008088
caenorhabditis_elegans		WBGENE00008423
caenorhabditis_elegans		WBGENE00008464
caenorhabditis_elegans	F10G8.2	WBGENE00008662
caenorhabditis_elegans		WBGENE00008883
caenorhabditis_elegans		WBGENE00009324
caenorhabditis_elegans		WBGENE00009402
caenorhabditis_elegans		WBGENE00010555
caenorhabditis_elegans		WBGENE00010692
caenorhabditis_elegans		WBGENE00010874
caenorhabditis_elegans		WBGENE00011283
caenorhabditis_elegans		WBGENE00012169
caenorhabditis_elegans		WBGENE00012637
caenorhabditis_elegans		WBGENE00012731
caenorhabditis_elegans		WBGENE00013868
caenorhabditis_elegans		WBGENE00014007
caenorhabditis_elegans		WBGENE00015893
caenorhabditis_elegans		WBGENE00016111
caenorhabditis_elegans	C34B2.3	WBGENE00016388
caenorhabditis_elegans		WBGENE00016513
caenorhabditis_elegans		WBGENE00016541
caenorhabditis_elegans		WBGENE00016673
caenorhabditis_elegans		WBGENE00016765
caenorhabditis_elegans	C55B7.10	WBGENE00016946
caenorhabditis_elegans		WBGENE00016963
caenorhabditis_elegans		WBGENE00017050
caenorhabditis_elegans		WBGENE00017714
caenorhabditis_elegans		WBGENE00017725
caenorhabditis_elegans		WBGENE00017803
caenorhabditis_elegans		WBGENE00017895
caenorhabditis_elegans	F33D11.7	WBGENE00018004
caenorhabditis_elegans		WBGENE00018122
caenorhabditis_elegans		WBGENE00018123
caenorhabditis_elegans		WBGENE00018202
caenorhabditis_elegans		WBGENE00018203
caenorhabditis_elegans		WBGENE00018745
caenorhabditis_elegans		WBGENE00018839
caenorhabditis_elegans		WBGENE00019086
caenorhabditis_elegans		WBGENE00019119
caenorhabditis_elegans		WBGENE00019459
caenorhabditis_elegans		WBGENE00019556
caenorhabditis_elegans		WBGENE00019561
caenorhabditis_elegans		WBGENE00019562
caenorhabditis_elegans		WBGENE00019642
caenorhabditis_elegans	kin-35	WBGENE00019769
caenorhabditis_elegans		WBGENE00020071
caenorhabditis_elegans		WBGENE00020072
caenorhabditis_elegans		WBGENE00020223
caenorhabditis_elegans		WBGENE00020580
caenorhabditis_elegans	W09C3.1	WBGENE00021109
caenorhabditis_elegans	Y47G6A.13	WBGENE00021639
caenorhabditis_elegans	Y65B4A.9	WBGENE00022032
caenorhabditis_elegans		WBGENE00022102
caenorhabditis_elegans	Y71F9AL.2	WBGENE00022108
caenorhabditis_elegans		WBGENE00022705
caenorhabditis_elegans		WBGENE00022707

Paralogs (12): CDC7 (ENSG00000097046), VRK1 (ENSG00000100749), VRK3 (ENSG00000105053), CSNK1A1 (ENSG00000113712), TTBK2 (ENSG00000128881), CSNK1G2 (ENSG00000133275), CSNK1D (ENSG00000141551), TTBK1 (ENSG00000146216), CSNK1G3 (ENSG00000151292), CSNK1G1 (ENSG00000169118), CSNK1A1L (ENSG00000180138), CSNK1E (ENSG00000213923)

Protein

Protein identifiers

Serine/threonine-protein kinase VRK2 — Q86Y07 (reviewed: Q86Y07)

Alternative names: Vaccinia-related kinase 2

All UniProt accessions (3): Q86Y07, E7ERS5, E9PBU1

UniProt curated annotations — full annotation on UniProt →

Function. Serine/threonine kinase that regulates several signal transduction pathways. Isoform 1 modulates the stress response to hypoxia and cytokines, such as interleukin-1 beta (IL1B) and this is dependent on its interaction with MAPK8IP1, which assembles mitogen-activated protein kinase (MAPK) complexes. Inhibition of signal transmission mediated by the assembly of MAPK8IP1-MAPK complexes reduces JNK phosphorylation and JUN-dependent transcription. Phosphorylates ‘Thr-18’ of p53/TP53, histone H3, and may also phosphorylate MAPK8IP1. Phosphorylates BANF1 and disrupts its ability to bind DNA and reduces its binding to LEM domain-containing proteins. Down-regulates the transactivation of transcription induced by ERBB2, HRAS, BRAF, and MEK1. Blocks the phosphorylation of ERK in response to ERBB2 and HRAS. Can also phosphorylate the following substrates that are commonly used to establish in vitro kinase activity: casein, MBP and histone H2B, but it is not sure that this is physiologically relevant. Phosphorylates ‘Thr-18’ of p53/TP53, as well as histone H3. Reduces p53/TP53 ubiquitination by MDM2, promotes p53/TP53 acetylation by EP300 and thereby increases p53/TP53 stability and activity.

Subunit / interactions. Isoform 1 interacts with MAP3K7, MAP2K7, MAP2K1 and KSR1. Isoform 1 and isoform 2 interact with RAN and MAPK8IP1. (Microbial infection) Isoform 1 interacts with Epstein-Barr virus BHRF1; this interaction is involved in protecting cells from apoptosis. (Microbial infection) Isoform 1 interacts with vaccinia protein B12.

Subcellular location. Cytoplasm. Endoplasmic reticulum membrane. Mitochondrion membrane. Nucleus envelope Cytoplasm. Nucleus.

Tissue specificity. Isoform 1 and isoform 2 are expressed in various tumor cell lines. Expression of isoform 1 inversely correlates with ERBB2 in breast carcinomas (at protein level). Widely expressed. Highly expressed in fetal liver, skeletal muscle, pancreas, heart, peripheral blood leukocytes and testis.

Post-translational modifications. Autophosphorylated. Autophosphorylated.

Activity regulation. RAN inhibits its autophosphorylation and its ability to phosphorylate histone H3.

Similarity. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily.

Isoforms (5)

UniProt ID	Names	Canonical?
Q86Y07-1	1, VRK2A	yes
Q86Y07-2	2, VRK2B
Q86Y07-3	3
Q86Y07-4	4, 5
Q86Y07-5	5, 6

RefSeq proteins (9): NP_001123952, NP_001123953, NP_001123954, NP_001123955, NP_001275765, NP_001275766, NP_001275767, NP_001275768, NP_006287* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR050235	CK1_Ser-Thr_kinase-like	Family

Pfam: PF00069

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (50 total): helix 17, strand 11, splice variant 6, sequence variant 4, turn 2, binding site 2, modified residue 2, chain 1, transmembrane region 1, sequence conflict 1, domain 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2V62	X-RAY DIFFRACTION	1.7
8Q1Z	X-RAY DIFFRACTION	1.85
5UU1	X-RAY DIFFRACTION	2
9FET	X-RAY DIFFRACTION	2.4
6NCG	X-RAY DIFFRACTION	2.45

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86Y07-F1	76.49	0.57

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 166 (proton acceptor)

Ligand- & substrate-binding residues (2): 35–43; 61

Post-translational modifications (2): 336, 406

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013404	RAC2 GTPase cycle
R-HSA-9013405	RHOD GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle
R-HSA-2980766	Nuclear Envelope Breakdown
R-HSA-2995383	Initiation of Nuclear Envelope (NE) Reformation

MSigDB gene sets: 224 (showing top): SHEPARD_BMYB_MORPHOLINO_UP, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, GOBP_RESPONSE_TO_PEPTIDE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, BROWNE_HCMV_INFECTION_48HR_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_RESPONSE_TO_INTERLEUKIN_1, GOBP_DNA_DAMAGE_RESPONSE, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_INTERLEUKIN_1_MEDIATED_SIGNALING_PATHWAY, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS, GOBP_PROTEIN_AUTOPHOSPHORYLATION, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, VANTVEER_BREAST_CANCER_BRCA1_UP

GO Biological Process (7): protein phosphorylation (GO:0006468), DNA damage response (GO:0006974), signal transduction (GO:0007165), cellular response to oxidative stress (GO:0034599), regulation of MAPK cascade (GO:0043408), protein autophosphorylation (GO:0046777), regulation of interleukin-1-mediated signaling pathway (GO:2000659)

GO Molecular Function (10): protein serine/threonine kinase activity (GO:0004674), ATP binding (GO:0005524), protein kinase binding (GO:0019901), protein domain specific binding (GO:0019904), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (10): nucleus (GO:0005634), nuclear envelope (GO:0005635), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), mitochondrial membrane (GO:0031966), protein-containing complex (GO:0032991), mitochondrion (GO:0005739), membrane (GO:0016020), organelle envelope (GO:0031967)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
RHO GTPase cycle	5
Mitotic Prophase	1
Nuclear Envelope (NE) Reassembly	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
cellular anatomical structure	3
protein kinase activity	2
endomembrane system	2
cytoplasm	2
organelle membrane	2
phosphorylation	1
protein modification process	1
cellular response to stress	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to oxidative stress	1
cellular response to chemical stress	1
MAPK cascade	1
regulation of intracellular signal transduction	1
protein phosphorylation	1
regulation of cytokine-mediated signaling pathway	1
interleukin-1-mediated signaling pathway	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
kinase binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
nucleus	1
organelle envelope	1
intracellular anatomical structure	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
mitochondrion	1
mitochondrial envelope	1

Protein interactions and networks

STRING

1532 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VRK2	BDKRB1	P46663	875
VRK2	MAPK8IP1	Q9UQF2	738
VRK2	ZNF804A	Q7Z570	669
VRK2	BANF1	O75531	604
VRK2	KSR1	Q8IVT5	596
VRK2	BANF2	Q9H503	593
VRK2	DUSP3	P51452	561
VRK2	TMEM183A	Q8IXX5	530
VRK2	FANCL	Q9NW38	518
VRK2	MAP2K7	O14733	504
VRK2	NT5C2	P49902	493
VRK2	TRIM26	Q12899	490
VRK2	TSNARE1	Q96NA8	487
VRK2	ITIH3	Q06033	479
VRK2	MMP16	P51512	477

IntAct

158 interactions, top by confidence:

A	B	Type	Score
TMED9	TMED10	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VRK2	KSR1	psi-mi:“MI:0403”(colocalization)	0.650
VRK2	KSR1	psi-mi:“MI:0915”(physical association)	0.650
KSR1	VRK2	psi-mi:“MI:0915”(physical association)	0.650
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
	VRK2	psi-mi:“MI:0915”(physical association)	0.600
VRK2		psi-mi:“MI:0915”(physical association)	0.600
VRK2		psi-mi:“MI:0403”(colocalization)	0.600
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
VRK2	TMEM88	psi-mi:“MI:0915”(physical association)	0.560
VRK2	AQP6	psi-mi:“MI:0915”(physical association)	0.560
AQP6	VRK2	psi-mi:“MI:0915”(physical association)	0.560
VRK2	MMGT1	psi-mi:“MI:0915”(physical association)	0.560
TMEM88	VRK2	psi-mi:“MI:0915”(physical association)	0.560
TMEM205	VRK2	psi-mi:“MI:0915”(physical association)	0.560
VRK2	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
GJA5	VRK2	psi-mi:“MI:0915”(physical association)	0.560
TBXA2R	VRK2	psi-mi:“MI:0915”(physical association)	0.560
ILK	HAX1	psi-mi:“MI:0914”(association)	0.530
RPN1	APBB1	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530

BioGRID (310): VRK2 (Affinity Capture-MS), VRK2 (Reconstituted Complex), VRK2 (Affinity Capture-MS), VRK2 (Affinity Capture-MS), VRK2 (Affinity Capture-MS), VRK2 (Affinity Capture-MS), VRK2 (Proximity Label-MS), VRK2 (Proximity Label-MS), VRK2 (Proximity Label-MS), VRK2 (Proximity Label-MS), VRK2 (Proximity Label-MS), VRK2 (Proximity Label-MS), VRK2 (Affinity Capture-MS), VRK2 (Affinity Capture-MS), VRK2 (Affinity Capture-MS)

ESM2 similar proteins: A4PES0, A4QNA8, D2HHP1, D2HNY3, D4A7V9, E1BTE1, E2RSS3, E7FDW8, O57473, P0C1S8, P47817, P61800, Q14258, Q2YDN8, Q5EAN7, Q5R5X9, Q5XIX3, Q60953, Q66JT0, Q69ZT1, Q6DFE0, Q70CQ4, Q7TPQ3, Q7ZU92, Q80X41, Q86Y07, Q8BK58, Q8BN21, Q8BZ20, Q8IV63, Q8IYR2, Q8K3G5, Q8K4J0, Q8K4T3, Q91VL8, Q92918, Q96MI9, Q99MV5, Q9BVS5, Q9BY84

Diamond homologs: A0A7H0DNE9, A0A7H0DNF8, A8WU31, O23304, O57252, O57259, O74135, P16913, P20505, P21098, P24362, P33800, P81123, Q02720, Q19848, Q2YDN8, Q32PI1, Q4VSN1, Q54P47, Q7KRY6, Q7ZUS1, Q80X41, Q86Y07, Q8BN21, Q8IV63, Q8K3G5, Q91FD5, Q99986, Q9J509, Q9J523, P24719, Q54RZ7, Q7TNJ7, Q852L0, Q8RX66, Q91VB2, Q96NX5, Q9SND6, A7E3X2, B9VVJ6

SIGNOR signaling

16 interactions.

A	Effect	B	Mechanism
VRK2	down-regulates	BANF1	phosphorylation
VRK2	up-regulates	NFATC2	phosphorylation
VRK2	“up-regulates activity”	“DCX DET1-COP1”	binding
VRK2	“down-regulates quantity by destabilization”	TRiC	binding
VRK2	“down-regulates activity”	USP25	phosphorylation
VRK2	“up-regulates activity”	GAPDH	phosphorylation
VRK2	“up-regulates activity”	TKT	phosphorylation
VRK2	“down-regulates activity”	FBXW2	phosphorylation
VRK2	“up-regulates activity”	TP53	phosphorylation
VRK2	“down-regulates quantity by destabilization”	DTNBP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 176 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
PD-L1(CD274) glycosylation and translocation to plasma membrane	7	32.2×	5e-07
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	5	23.0×	2e-04
RAS processing	5	21.1×	3e-04
Maturation of DENV proteins	10	18.7×	8e-08
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	6	17.8×	1e-04
Maturation of spike protein	7	16.4×	5e-05
DAP12 signaling	5	16.3×	6e-04
RAF activation	5	14.9×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
obsolete protein N-linked glycosylation via asparagine	6	26.6×	1e-04
protein N-linked glycosylation	7	12.1×	9e-04
ERAD pathway	8	9.5×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4346 predictions. Top by Δscore:

Variant	Effect	Δscore
2:58048797:A:AG	acceptor_gain	1.0000
2:58048798:C:G	acceptor_gain	1.0000
2:58048826:GAA:G	acceptor_gain	1.0000
2:58084080:T:TA	acceptor_gain	1.0000
2:58084087:A:AG	acceptor_gain	1.0000
2:58084088:G:GT	acceptor_gain	1.0000
2:58084088:GC:G	acceptor_gain	1.0000
2:58084088:GCT:G	acceptor_gain	1.0000
2:58084088:GCTT:G	acceptor_gain	1.0000
2:58084088:GCTTT:G	acceptor_gain	1.0000
2:58084134:AAGTG:A	donor_gain	1.0000
2:58084136:GTG:G	donor_gain	1.0000
2:58084139:G:GG	donor_gain	1.0000
2:58084140:T:A	donor_loss	1.0000
2:58084875:TTATA:T	acceptor_loss	1.0000
2:58084876:TATA:T	acceptor_loss	1.0000
2:58084878:TA:T	acceptor_loss	1.0000
2:58084946:CTGTA:C	donor_gain	1.0000
2:58084948:GTA:G	donor_gain	1.0000
2:58084951:G:GG	donor_gain	1.0000
2:58086337:A:AG	acceptor_gain	1.0000
2:58086338:G:GA	acceptor_gain	1.0000
2:58086338:GTC:G	acceptor_gain	1.0000
2:58086338:GTCA:G	acceptor_gain	1.0000
2:58086420:G:T	donor_gain	1.0000
2:58086422:AGAAG:A	donor_loss	1.0000
2:58086423:GAAGG:G	donor_loss	1.0000
2:58086424:AAGGT:A	donor_loss	1.0000
2:58086425:AGGTA:A	donor_loss	1.0000
2:58086426:G:GT	donor_loss	1.0000

AlphaMissense

3349 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:58084135:A:C	K61N	0.998
2:58084135:A:T	K61N	0.998
2:58131879:T:A	W250R	0.998
2:58131879:T:C	W250R	0.998
2:58048949:T:C	F40L	0.997
2:58048951:T:A	F40L	0.997
2:58048951:T:G	F40L	0.997
2:58123209:A:C	S218R	0.997
2:58123211:C:A	S218R	0.997
2:58123211:C:G	S218R	0.997
2:58123115:T:A	D186E	0.995
2:58123115:T:G	D186E	0.995
2:58131923:A:C	K264N	0.995
2:58131923:A:T	K264N	0.995
2:58088348:T:C	F118L	0.994
2:58088350:T:A	F118L	0.994
2:58088350:T:G	F118L	0.994
2:58089695:T:C	L172P	0.994
2:58123114:A:T	D186V	0.994
2:58131881:G:C	W250C	0.994
2:58131881:G:T	W250C	0.994
2:58089683:A:T	K168I	0.993
2:58123134:T:G	Y193D	0.993
2:58123203:T:C	F216L	0.993
2:58123205:T:A	F216L	0.993
2:58123205:T:G	F216L	0.993
2:58048916:T:A	W29R	0.992
2:58048916:T:C	W29R	0.992
2:58089677:A:T	D166V	0.992
2:58089678:T:A	D166E	0.992

dbSNP variants (sampled 300 via entrez): RS1000014624 (2:58035526 G>A,C), RS1000019910 (2:58007065 C>G), RS1000024195 (2:58126700 A>G), RS1000025019 (2:57926811 C>G), RS1000030040 (2:57968592 T>C), RS1000033575 (2:57917896 T>G), RS1000036036 (2:58083235 A>G,T), RS1000042113 (2:57975758 CTT>C,CT,CTTT,CTTTT,CTTTTT), RS1000068702 (2:57963438 C>G,T), RS1000085732 (2:57917726 T>C), RS1000086118 (2:58119961 T>C), RS1000087904 (2:58023297 C>T), RS1000091743 (2:57993284 T>A), RS1000100264 (2:58156381 A>G), RS1000107471 (2:58116296 A>G)

Disease associations

OMIM: gene MIM:602169 | disease phenotypes: MIM:227650, MIM:614083

GenCC curated gene-disease

Mondo (2): Fanconi anemia (MONDO:0019391), Fanconi anemia complementation group L (MONDO:0013566)

Orphanet (1): Fanconi anemia (Orphanet:84)

HPO phenotypes

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

GWAS associations

65 associations (top):

Study	Trait	p-value
GCST000435_2	Schizophrenia	3.000000e-07
GCST002539_36	Schizophrenia	1.000000e-11
GCST002547_5	Epilepsy	1.000000e-08
GCST003764_6	Hirschsprung disease	3.000000e-08
GCST003839_2	Sleep duration	5.000000e-12
GCST003839_3	Sleep duration	3.000000e-10
GCST003840_2	Sleep duration (oversleepers vs undersleepers)	8.000000e-08
GCST003880_5	Schizophrenia	1.000000e-10
GCST003980_2	Sleep duration	8.000000e-08
GCST003980_7	Sleep duration	4.000000e-06
GCST004521_86	Autism spectrum disorder or schizophrenia	1.000000e-12
GCST004521_96	Autism spectrum disorder or schizophrenia	1.000000e-10
GCST004946_175	Schizophrenia	4.000000e-13
GCST004946_79	Schizophrenia	1.000000e-08
GCST005352_13	Paclitaxel disposition in epithelial ovarian cancer	6.000000e-06
GCST005839_26	Depression	5.000000e-09
GCST006041_2	Major depressive disorder	4.000000e-12
GCST006803_28	Schizophrenia	2.000000e-12
GCST006940_100	Neurociticism	1.000000e-09
GCST006940_45	Neurociticism	2.000000e-10
GCST006941_54	Irritable mood	1.000000e-08
GCST006943_24	Feeling miserable	2.000000e-13
GCST006944_28	Experiencing mood swings	3.000000e-09
GCST007201_19	Schizophrenia	8.000000e-09
GCST007201_20	Schizophrenia	1.000000e-13
GCST007201_249	Schizophrenia	2.000000e-09
GCST007201_287	Schizophrenia	9.000000e-09
GCST007201_447	Schizophrenia	1.000000e-12
GCST007328_31	Alcohol consumption (drinks per week)	1.000000e-10
GCST007387_33	Insomnia symptoms (never/rarely vs. sometimes/usually)	8.000000e-09

EFO canonical traits (18, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0009594	irritability measurement
EFO:0009598	feeling miserable measurement
EFO:0008475	mood instability measurement
EFO:0007876	insomnia measurement
EFO:0007645	longitudinal alcohol consumption measurement
EFO:0009458	alcohol use disorder measurement
EFO:0010350	cholesteryl ester 22:6 measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0007828	daytime rest measurement
EFO:0005670	smoking initiation
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass
EFO:0009749	age at first sexual intercourse measurement
EFO:0009902	handedness
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005199	Fanconi Anemia	C15.378.050.085.080.280; C15.378.190.223.500.500.280; C16.320.077.280; C18.452.284.280

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1649059 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

4 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 52,238 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1789941	RUXOLITINIB	4	11,547
CHEMBL288441	BOSUTINIB	4	12,255
CHEMBL5416410	DASATINIB	4	655
CHEMBL428690	ALVOCIDIB	3	27,781

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Vaccina related kinase (VRK) family

ChEMBL bioactivities

12 potent at pChembl≥5 of 13 total, top 12 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.75	Ki	17.8	nM	CHEMBL3604889
7.55	Ki	28	nM	CHEMBL573107
7.20	Kd	63	nM	ALVOCIDIB
6.71	IC50	196	nM	CHEMBL6170056
6.40	Kd	401	nM	CHEMBL4467571
6.15	Kd	710	nM	BOSUTINIB
6.00	IC50	1000	nM	TP-030-1
6.00	IC50	1000	nM	TP-030-2
6.00	IC50	1000	nM	TP-030n
5.50	Kd	3200	nM	DASATINIB
5.40	Kd	4000	nM	RUXOLITINIB
5.40	Kd	4000	nM	CHEMBL379218

PubChem BioAssay actives

8 with measured affinity, of 655 total; 8 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
(7R)-2-(3,5-difluoro-4-hydroxyanilino)-5,7-dimethyl-8-(3-methylbutyl)-7H-pteridin-6-one	2077280: Inhibition of full-length VRK2 (unknown origin) assessed as inhibition constant using human histone H3 peptide as substrate preincubated for 30 mins followed by substrate and ATP addition incubated for 60 mins by Cheng-Prusoff equation based TR-FRET assay	ki	0.0178	uM
2-(3,5-difluoro-4-hydroxyanilino)-5,7-dimethyl-8-(3-methylbutyl)-7H-pteridin-6-one	2077280: Inhibition of full-length VRK2 (unknown origin) assessed as inhibition constant using human histone H3 peptide as substrate preincubated for 30 mins followed by substrate and ATP addition incubated for 60 mins by Cheng-Prusoff equation based TR-FRET assay	ki	0.0280	uM
2-(2-chlorophenyl)-5,7-dihydroxy-8-[(3S,4R)-3-hydroxy-1-methylpiperidin-4-yl]chromen-4-one	625058: Binding constant for VRK2 kinase domain	kd	0.0630	uM
4-[6-amino-5-(3,5-difluoro-4-hydroxyphenyl)-3-pyridinyl]benzenesulfonamide	1511462: Binding affinity to recombinant N-terminal His-tagged VRK2 kinase domain (unknown origin) (14 to 335 residues) expressed in Escherichia coli BL 21 DE3-R3 cells assessed as dissociation constant at by isothermal titration method	kd	0.4010	uM
Bosutinib	625058: Binding constant for VRK2 kinase domain	kd	0.7100	uM
N-(2-chloro-6-methylphenyl)-2-[[6-[4-(2-hydroxyethyl)piperazin-1-yl]-2-methylpyrimidin-4-yl]amino]-1,3-thiazole-5-carboxamide;hydrate	625058: Binding constant for VRK2 kinase domain	kd	3.2000	uM
(2S)-1-[[5-(3-methyl-2H-indazol-5-yl)-3-pyridinyl]oxy]-3-phenylpropan-2-amine	625058: Binding constant for VRK2 kinase domain	kd	4.0000	uM
Ruxolitinib	625058: Binding constant for VRK2 kinase domain	kd	4.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects methylation, decreases expression	3
Air Pollutants	increases expression, decreases expression, increases abundance	3
trichostatin A	affects expression, decreases expression	2
Quercetin	decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
Cyclosporine	increases expression	2
Cadmium Chloride	increases expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
glycidyl methacrylate	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
gardiquimod	decreases expression, decreases reaction	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	increases abundance, increases expression	1
Catechin	affects cotreatment, decreases expression	1
Cytarabine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dimethylnitrosamine	increases expression	1
Doxorubicin	decreases expression	1
Nicotine	decreases expression	1
Phenobarbital	affects expression	1

ChEMBL screening assays

146 unique, capped per target: 146 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1175118	Binding	Inhibition of VRK2 at 10 uM	Broad spectrum alkynyl inhibitors of T315I Bcr-Abl. — Bioorg Med Chem Lett

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2L5	Abcam HeLa VRK2 KO	Cancer cell line	Female
CVCL_TX75	HAP1 VRK2 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06519786	PHASE3	UNKNOWN	Safety and Efficacy of Metformin for Treatment of Cytopenia in Children and Adolescents With Fanconi Anemia
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00001749	PHASE2	COMPLETED	Medical Treatment for Diamond Blackfan Anemia
NCT00004787	PHASE2	COMPLETED	Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
NCT00053989	PHASE2	COMPLETED	NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00084695	PHASE2	UNKNOWN	Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases
NCT00258427	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
NCT00453388	PHASE2	COMPLETED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia
NCT01071239	PHASE2	COMPLETED	Hematopoietic Stem Cell Transplant for Fanconi Anemia
NCT02143830	PHASE2	RECRUITING	HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy
NCT02931071	PHASE2	COMPLETED	Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1
NCT03206086	PHASE2	ACTIVE_NOT_RECRUITING	Eltrombopag for People With Fanconi Anemia
NCT03398824	PHASE2	COMPLETED	Pilot Study of Metformin for Patients With Fanconi Anemia
NCT03476330	PHASE2	COMPLETED	Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia
NCT03579875	PHASE2	RECRUITING	Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders
NCT03600909	PHASE2	TERMINATED	A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia
NCT04232085	PHASE2	RECRUITING	Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures
NCT06045052	PHASE2	COMPLETED	Eltrombopag for Treatment of Fanconi Anemia
NCT00001399	PHASE1	COMPLETED	Gene Therapy for the Treatment of Fanconi’s Anemia Type C
NCT00005896	PHASE1	UNKNOWN	Phase I Pilot Study of CD34 Enriched, Fanconi’s Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi’s Anemia
NCT00006127	PHASE1	UNKNOWN	Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi’s Anemia
NCT00093743	PHASE1	COMPLETED	Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia
NCT00243399	PHASE1	COMPLETED	Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia
NCT00272857	PHASE1	COMPLETED	Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia
NCT00317876	PHASE1	COMPLETED	Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi’s Anemia
NCT00586274	PHASE1	TERMINATED	Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT
NCT01331018	PHASE1	TERMINATED	Gene Therapy for Fanconi Anemia
NCT01720147	PHASE1	COMPLETED	Quercetin in Children With Fanconi Anemia; a Pilot Study
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00352976	PHASE2/PHASE3	COMPLETED	TBI Dose De-escalation for Fanconi Anemia
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00005898	PHASE1/PHASE2	COMPLETED	Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi’s Anemia
NCT00167206	PHASE1/PHASE2	TERMINATED	Stem Cell Transplantation for Fanconi Anemia
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT00479115	PHASE1/PHASE2	COMPLETED	Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100
NCT00590460	PHASE1/PHASE2	TERMINATED	Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia
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