KIF1B

Summary

KIF1B (kinesin family member 1B, HGNC:16636) is a protein-coding gene on chromosome 1p36.22, encoding Kinesin-like protein KIF1B (O60333). Has a plus-end-directed microtubule motor activity and functions as a motor for transport of vesicles and organelles along microtubules.

Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma.

Source: NCBI Gene 23095 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pheochromocytoma (Moderate, GenCC) — +4 more curated relationships
• GWAS associations: 27
• Clinical variants (ClinVar): 4,036 total — 2 pathogenic
• Phenotypes (HPO): 96
• Druggable target: yes
• MANE Select transcript: NM_001365951

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16636
Approved symbol	KIF1B
Name	kinesin family member 1B
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0591, KLP, HMSNII
Ensembl gene	ENSG00000054523
Ensembl biotype	protein_coding
OMIM	605995
Entrez	23095

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 20 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000263934, ENST00000377081, ENST00000377083, ENST00000377086, ENST00000377093, ENST00000465635, ENST00000470616, ENST00000483340, ENST00000495136, ENST00000497835, ENST00000620295, ENST00000622724, ENST00000635499, ENST00000676179, ENST00000696500, ENST00000696501, ENST00000696502, ENST00000696503, ENST00000696504, ENST00000696505, ENST00000696506, ENST00000696507, ENST00000858327, ENST00000858328, ENST00000858329, ENST00000858330, ENST00000858331, ENST00000858332, ENST00000959020

RefSeq mRNA: 5 — MANE Select: NM_001365951 NM_001365951, NM_001365952, NM_001365953, NM_015074, NM_183416

CCDS: CCDS111, CCDS112, CCDS90858

Canonical transcript exons

ENST00000676179 — 49 exons

Exon	Start	End
ENSE00000359247	10363283	10363344
ENSE00000740292	10365409	10365648
ENSE00000740694	10275428	10275503
ENSE00000740957	10320043	10320136
ENSE00000741117	10258493	10258672
ENSE00000869736	10323884	10324062
ENSE00000869740	10279097	10279138
ENSE00000869759	10365100	10365245
ENSE00000869761	10368467	10368538
ENSE00000897633	10371141	10371262
ENSE00000955628	10282322	10282533
ENSE00001049426	10337074	10337203
ENSE00001049427	10342050	10342168
ENSE00001049428	10374854	10375046
ENSE00001049430	10374316	10374465
ENSE00001065317	10375255	10375373
ENSE00001148872	10343232	10343287
ENSE00001148888	10339769	10339859
ENSE00001148894	10337371	10337533
ENSE00001148908	10336657	10336742
ENSE00001148914	10334520	10334638
ENSE00001148923	10326111	10326359
ENSE00001148930	10324758	10324895
ENSE00001148945	10321709	10321857
ENSE00001148960	10297174	10297246
ENSE00001148969	10296897	10297077
ENSE00001148977	10296582	10296665
ENSE00001148985	10295660	10295766
ENSE00001262563	10268152	10268263
ENSE00001263032	10232250	10232434
ENSE00001362508	10277986	10278128
ENSE00001362516	10272241	10272306
ENSE00001362517	10271502	10271579
ENSE00001362523	10267380	10267558
ENSE00001362525	10261905	10261970
ENSE00001362535	10256247	10256323
ENSE00001472746	10376545	10381603
ENSE00001631513	10276321	10276399
ENSE00001642987	10292047	10292122
ENSE00001671750	10273014	10273031
ENSE00001711594	10295086	10295165
ENSE00003518414	10345845	10345953
ENSE00003530256	10360929	10361043
ENSE00003580537	10291082	10291161
ENSE00003617785	10347761	10347827
ENSE00003638533	10361692	10361825
ENSE00003651030	10348649	10348733
ENSE00003669423	10352631	10352736
ENSE00003903767	10210570	10210878

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 99.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.4722 / max 847.8642, expressed in 1811 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
558	27.1183	1799
557	11.8593	1726
556	2.9754	995
559	2.3140	1115
560	2.2051	955

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.36	gold quality
biceps brachii	UBERON:0001507	99.06	gold quality
medial globus pallidus	UBERON:0002477	99.02	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.97	gold quality
Brodmann (1909) area 46	UBERON:0006483	98.97	gold quality
globus pallidus	UBERON:0001875	98.91	gold quality
middle temporal gyrus	UBERON:0002771	98.88	gold quality
ventricular zone	UBERON:0003053	98.76	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.53	gold quality
CA1 field of hippocampus	UBERON:0003881	98.53	gold quality
substantia nigra pars compacta	UBERON:0001965	98.44	gold quality
pons	UBERON:0000988	98.43	gold quality
lateral globus pallidus	UBERON:0002476	98.31	gold quality
cortical plate	UBERON:0005343	98.30	gold quality
postcentral gyrus	UBERON:0002581	98.27	gold quality
body of tongue	UBERON:0011876	98.27	gold quality
orbitofrontal cortex	UBERON:0004167	98.24	gold quality
parietal lobe	UBERON:0001872	98.11	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.05	gold quality
corpus callosum	UBERON:0002336	98.00	gold quality
ganglionic eminence	UBERON:0004023	97.96	gold quality
subthalamic nucleus	UBERON:0001906	97.88	gold quality
superior vestibular nucleus	UBERON:0007227	97.87	gold quality
inferior vagus X ganglion	UBERON:0005363	97.74	gold quality
medulla oblongata	UBERON:0001896	97.65	gold quality
gastrocnemius	UBERON:0001388	97.49	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.46	gold quality
superior frontal gyrus	UBERON:0002661	97.43	gold quality
inferior olivary complex	UBERON:0002127	97.41	gold quality
muscle of leg	UBERON:0001383	97.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.83

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 40)

• KIF1Ba in addition to KIF1Bbeta may not be a candidate tumor suppressor gene for neuroblastoma (PMID:12888911)
• KBP is a new binding partner for KIF1Balpha that is a regulator of its transport function and thus represents a new type of kinesin interacting protein. (PMID:16225668)
• We detected ALS-specific down-regulation of KIF1Bbeta and novel KIF3Abeta, two isoforms we show to be enriched in the brain, and also of SOD1, a key enzyme linked to familial ALS. (PMID:17418584)
• Study identified inherited loss-of-function KIF1Bbeta missense mutations in neuroblastomas and pheochromocytomas and an acquired loss-of-function mutation in a medulloblastoma. (PMID:18334619)
• KIF1Bbeta may act as a haploinsufficient tumor suppressor, and its allelic loss may be involved in the pathogenesis of neuroblastoma and other cancers. (PMID:18614535)
• a germline mutation in the KIF1B beta gene on 1p36 may have a role in neural and nonneural tumors (PMID:18726616)
• Study reports a genome wide association study identifying a new locus replicated in 2,679 cases and 3,125 controls; an rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 (P = 2.5 x 10(-10)). (PMID:18997785)
• KIF1B rs10492972 allelic variant does not act as a risk factor as well as a disease modifier in a Italian cohort of patients with progressive relapsing multiple sclerosis. (PMID:20067515)
• Bmi1 is a MYCN target gene that regulates tumorigenesis through repression of KIF1Bbeta and TSLC1 in neuroblastoma. (PMID:20190806)
• No association is found between rs10492972 KIF1B polymorphism and the progression of multiple sclerosis in Greek subjects. (PMID:21424745)
• analysis of the KIF1B rs10492972*C allelic association in multiple sclerosis (PMID:21594895)
• Data show that no evidence could be found for a determining influence of carriership of the risk allele or genotype of the KIF1B gene on any of the multiple sclerosis neurodegenerative phenotypic markers studied. (PMID:21606458)
• Polymorphic locus rs10492972 of the KIF1B gene associates with multiple sclerosis in Russia. (PMID:21680216)
• This study showed the new locus identified for hepatocellular carcinoma, KIF1B, was not associated with progression to chronic hepatitis B. (PMID:22363396)
• activity-dependent synaptic recruitment of KIF1Bbeta, its interaction with Ca(2 ) sensor Calmodulin and its role as a dendritic motor of ribonucleoprotein complexes provide a novel basis for understanding the coordination of motor protein mobilization and synaptic signaling pathways (PMID:22945799)
• Polymorphisms at KIF1B gene locus investigated in this study showed no significant association with Hepatitis B virus infection. (PMID:23028799)
• the TT genotype of rs1535045 was associated with a slower progression of MS and early MS onset. (PMID:23528589)
• KIF1B may play a critical role in the development of hepatocellular carcinoma (PMID:23634229)
• the KIF1B gene SNP (rs174019660) showed no significant association with HBV-related hepatocellular carcinoma in Thai patients infected with HBV, indicating that there must be other mechanisms or pathways involved in hepatocellular carcinoma. (PMID:23803045)
• analysis of the recognition sequence for DJ-1 protease and its interactions with KIF1B and ABL1 (PMID:23831022)
• Results show that KIF1Bbeta has neuroblastoma tumor-suppressor properties and promotes and requires nuclear-localized DHX9 for its apoptotic function by activating XAF1 expression. (PMID:24469107)
• The meta-analysis showed a significant association between kinesin family member 1B (KIF1B) single nucleotide polymorphism (rs17401966) and hepatocellular carcinoma (HCC). (PMID:24952890)
• The variant G allele of rs17401966 may be a favorable biomarker for the prognosis of intermediate or advanced hepatitis B virus-related hepatocellular carcinoma patients in this Chinese population (PMID:25153661)
• Results from targeted sequencing in patients with acute lymphoblastic leukemia identified KMT2D and KIF1B as novel putative driver genes and a putative regulatory non-coding variant that coincided with overexpression of the growth factor MDK. (PMID:25355294)
• The tumor suppressor DLC2 and Kif1B are central components of a signaling network that guides spindle positioning, cell-cell adhesion and mitotic fidelity. (PMID:25518808)
• the rs17401966 polymorphism likely regulates KIF1B mRNA expression and thus may be associated with epithelial ovarian cancer risk in Eastern Chinese women. (PMID:25854172)
• Downregulation of KIF1B in hepatocellular carcinoma tissues is associated with poor prognosis. (PMID:26217094)
• Increased KIF1B was associated with worse WHO pathological classification, Karnofsky performance status, and prognosis. Silencing KIF1B inhibited expression of membranal MT1-MMP. (PMID:26576027)
• that KIF1Bbeta affects mitochondrial dynamics through calcineurin-dependent dephosphorylation of Dynamin-related protein 1 (DRP1), causing mitochondrial fission and apoptosis (PMID:26812016)
• Study found that in peripheral blood mononuclear cells the median expression of KIFC3, KIF1B, and KIF5C was much lower than the expression of dynactin subunits DCTN1 and DCTN3, in both sporadic amyotrophic lateral sclerosis and healthy cases (PMID:26954557)
• The gene-environment interaction between the KIF1B rs17401966 variant and alcohol consumption may contribute to the development of hepatocellular carcinoma in Chinese individuals. (PMID:27122668)
• BORC and Arl8 function upstream of two structurally distinct kinesin types: kinesin-1 (KIF5B) and kinesin-3 (KIF1Bbeta and KIF1A). (PMID:27851960)
• The rs17401966 polymorphism reduced the risk for HCC under the allele, heterozygous, homozygous, and dominant models but not under the additive or recessive models. (PMID:28427253)
• In conclusion, using a panel including 17 susceptibility genes, we documented the presence of somatic mutations in over 50% of pheochromocytomas and paragangliomas (PPGL). We confirmed the high frequency of NF1 somatic mutations and identified KIF1B as the second most frequently mutated gene in PPGL tissues. (PMID:28515046)
• The authors’ findings indicate that tumor suppressor KIF1Bbeta plays an important role in intrinsic mitochondria-mediated apoptosis through the regulation of structural and functional dynamics of mitochondria in collaboration with YME1L1. (PMID:30859632)
• results revealed a significant association between KIF1B rs17401966 polymorphism and susceptibility to HCC under a random-effect allelic model (PMID:30947687)
• The Kif1bbeta and Fignl1 loss of function similarly altered zebrafish motor axon pathfinding and increased dynein-based transport velocity of Rab3 vesicles in these navigating axons, pinpointing Fignl1/Kif1bbeta as a dynein speed limiter complex. (PMID:31541015)
• associations of single nucleotide polymorphisms of KIF1B gene with the severity of clinical manifestations of multiple sclerosis (PMID:31934989)
• Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma. (PMID:33397043)
• USP9X promotes apoptosis in cholangiocarcinoma by modulation expression of KIF1Bbeta via deubiquitinating EGLN3. (PMID:34112167)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif1b	ENSDARG00000037020
mus_musculus	Kif1b	ENSMUSG00000063077
rattus_norvegicus	Kif1b	ENSRNOG00000057626

Paralogs (41): KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF5A (ENSG00000155980), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)

Protein

Protein identifiers

Kinesin-like protein KIF1B — O60333 (reviewed: O60333)

All UniProt accessions (12): A0A087WWA3, A0A0U1RQL3, A0A8Q3SIN8, A0A8Q3SIT2, A0A8Q3WL98, A0A8Q3WLB2, A0A8Q3WLB3, A0A8Q3WLD7, A0A8Q3WM94, A0A8Q3WMG4, O60333, Q4R9M9

UniProt curated annotations — full annotation on UniProt →

Function. Has a plus-end-directed microtubule motor activity and functions as a motor for transport of vesicles and organelles along microtubules. Has a plus-end-directed microtubule motor activity and functions as a motor for anterograde synaptic vesicle transport along axonal microtubules from the cell body to the presynapse in neuronal cells. Functions as a downstream effector in a developmental apoptotic pathway that is activated when nerve growth factor (NGF) becomes limiting for neuronal progenitor cells. Has a plus-end-directed microtubule motor activity and functions as a motor for anterograde transport of mitochondria.

Subunit / interactions. Monomer. Interacts with KIFBP; positively regulates KIF1B microtubule motor activity. Interacts (via C-terminus end of the kinesin-motor domain) with CHP1; the interaction occurs in a calcium-dependent manner. Interacts with MADD (via death domain); links this isoform to Rab3-carrying vesicles in anterograde synaptic vesicle transport.

Subcellular location. Cytoplasm. Cytoskeleton Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane Mitochondrion.

Tissue specificity. Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas.

Disease relevance. Charcot-Marie-Tooth disease, axonal, type 2A1 (CMT2A1) [MIM:118210] A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. The disease may be caused by variants affecting the gene represented in this entry. Neuroblastoma 1 (NBLST1) [MIM:256700] A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Disease susceptibility is associated with variants affecting the gene represented in this entry. Pheochromocytoma (PCC) [MIM:171300] A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
O60333-1	1	yes
O60333-2	2, KIF1Bbeta
O60333-3	3, KIF1Balpha
O60333-4	4

RefSeq proteins (5): NP_001352880, NP_001352881, NP_001352882, NP_055889, NP_904325 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000253	FHA_dom	Domain
IPR001752	Kinesin_motor_dom	Domain
IPR001849	PH_domain	Domain
IPR008984	SMAD_FHA_dom_sf	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR019821	Kinesin_motor_CS	Conserved_site
IPR022140	Kinesin-like_KIF1-typ	Domain
IPR022164	Kinesin-like	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR032405	Kinesin_assoc	Domain
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR049780	PH_KIFIA_KIFIB	Domain

Pfam: PF00169, PF00225, PF00498, PF12423, PF12473, PF16183

UniProt features (73 total): modified residue 16, strand 12, sequence conflict 11, sequence variant 9, splice variant 5, coiled-coil region 4, compositionally biased region 4, region of interest 4, domain 3, initiator methionine 1, chain 1, binding site 1, helix 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2EH0	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60333-F1	66.64	0.15

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 (1): 97–104

Post-translational modifications (16): 2, 647, 652, 1054, 1057, 1075, 1416, 1454, 1487, 1573, 1603, 1610, 1613, 663, 665, 1141

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins
R-HSA-109582	Hemostasis
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688	Golgi-to-ER retrograde transport
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 574 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GNF2_RTN1, GCM_MAP4K4, GOBP_AXO_DENDRITIC_TRANSPORT, GCM_PTPRD, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_VESICLE_LOCALIZATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GCANCTGNY_MYOD_Q6, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, ATACCTC_MIR202, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOCC_KINESIN_COMPLEX

GO Biological Process (10): apoptotic process (GO:0006915), neuron-neuron synaptic transmission (GO:0007270), neuromuscular synaptic transmission (GO:0007274), vesicle-mediated transport (GO:0016192), mitochondrion transport along microtubule (GO:0047497), anterograde synaptic vesicle transport (GO:0048490), apoptotic process involved in development (GO:1902742), retrograde neuronal dense core vesicle transport (GO:1990049), microtubule-based movement (GO:0007018), transport along microtubule (GO:0010970)

GO Molecular Function (10): ATP binding (GO:0005524), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), kinesin binding (GO:0019894), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (16): cytoplasm (GO:0005737), mitochondrion (GO:0005739), kinesin complex (GO:0005871), microtubule (GO:0005874), axon (GO:0030424), dendrite (GO:0030425), synaptic vesicle membrane (GO:0030672), cytoplasmic vesicle (GO:0031410), neuron projection (GO:0043005), postsynapse (GO:0098794), axon cytoplasm (GO:1904115), cytoskeleton (GO:0005856), membrane (GO:0016020), transport vesicle membrane (GO:0030658), synapse (GO:0045202), presynapse (GO:0098793)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Vesicle-mediated transport	1
Membrane Trafficking	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
chemical synaptic transmission	2
ATP-dependent activity	2
cytoplasm	2
neuron projection	2
synapse	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
transport	1
cellular process	1
establishment of mitochondrion localization, microtubule-mediated	1
organelle transport along microtubule	1
anterograde axonal transport	1
synaptic vesicle transport along microtubule	1
apoptotic process	1
anatomical structure development	1
retrograde axonal transport	1
vesicle transport along microtubule	1
dense core granule cytoskeletal transport	1
microtubule-based process	1
microtubule-based movement	1
cytoskeleton-dependent intracellular transport	1
microtubule-based transport	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
microtubule motor activity	1
ribonucleoside triphosphate phosphatase activity	1
cytoskeletal protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
microtubule associated complex	1

Protein interactions and networks

STRING

1882 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF1B	TMEM127	O75204	866
KIF1B	MFN2	O95140	822
KIF1B	KIFBP	Q96EK5	810
KIF1B	SDHD	O14521	711
KIF1B	RNMT	O43148	691
KIF1B	EGLN1	Q9GZT9	673
KIF1B	SDHB	P21912	665
KIF1B	SDHC	Q99643	660
KIF1B	NF1	P21359	639
KIF1B	RET	P07949	627
KIF1B	F5H5T6	F5H5T6	603
KIF1B	EGLN3	Q9H6Z9	594
KIF1B	SDHAF2	Q9NX18	582
KIF1B	EGLN2	Q96KS0	547
KIF1B	DFFA	O00273	546
KIF1B	Q05D86	Q05D86	546

IntAct

143 interactions, top by confidence:

A	B	Type	Score
KIF1B	YWHAG	psi-mi:“MI:0915”(physical association)	0.900
YWHAQ	WDR62	psi-mi:“MI:0914”(association)	0.830
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
KIF1B	YWHAZ	psi-mi:“MI:0914”(association)	0.740
YWHAH	FAM83G	psi-mi:“MI:0914”(association)	0.710
KIF1B	YWHAE	psi-mi:“MI:0915”(physical association)	0.650
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
CETN1	SFI1	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAB	BLTP3B	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
KIF1B	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
CLASP1	KIF1B	psi-mi:“MI:0914”(association)	0.560
CLASP1	KIF1B	psi-mi:“MI:0915”(physical association)	0.560
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530

BioGRID (232): KIF1B (Two-hybrid), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Proximity Label-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS), KIF1B (Affinity Capture-MS)

ESM2 similar proteins: A0JN40, A8BB91, A8BKD1, B1AVY7, B9F2Y7, F1M4A4, F1M5N7, F1QN54, F4K0J3, G5EGS3, O14782, O15066, O35066, O55165, O60333, O75037, O88658, P28741, P33173, P33176, P34540, P35978, P46867, P46871, P46872, P46873, Q10E64, Q12756, Q29DY1, Q2PQA9, Q4R628, Q5JKW1, Q5R4H3, Q5R706, Q60575, Q61768, Q61771, Q6YUL8, Q7Z4S6, Q86Z98

Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7EJ91, B7ZNG0, B9F2Y7, B9GE13, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O45935, O55165, O60282, O60333, O75037, O88658, O95239, P17210, P21613, P23678, P28738, P28741, P33173, P33174, P33175

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KIF1B	up-regulates	“Plus-end directed sliding movement”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	8	64.0×	8e-11
Activation of BAD and translocation to mitochondria	7	63.4×	1e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	56.0×	2e-09
Activation of BH3-only proteins	7	41.4×	2e-08
RHO GTPases activate PKNs	7	26.4×	4e-07
Intrinsic Pathway for Apoptosis	7	24.4×	6e-07
FOXO-mediated transcription	5	20.0×	1e-04
SARS-CoV-1-host interactions	8	16.7×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	7	23.1×	8e-06
substantia nigra development	6	19.8×	1e-04
mitotic spindle organization	5	12.2×	4e-03
intracellular protein localization	9	8.5×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

4036 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	2308
Likely benign	1352
Benign	140

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4526336	NM_001365951.3(KIF1B):c.1036A>T (p.Arg346Ter)	Pathogenic
4658	NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)	Pathogenic

SpliceAI

7353 predictions. Top by Δscore:

Variant	Effect	Δscore
1:10210876:GAG:G	donor_gain	1.0000
1:10210878:GGTAA:G	donor_loss	1.0000
1:10210879:G:GA	donor_loss	1.0000
1:10210879:G:GG	donor_gain	1.0000
1:10210880:T:A	donor_loss	1.0000
1:10232246:A:AG	acceptor_gain	1.0000
1:10232246:AAAG:A	acceptor_gain	1.0000
1:10232247:A:G	acceptor_gain	1.0000
1:10232248:A:G	acceptor_gain	1.0000
1:10232249:G:GG	acceptor_gain	1.0000
1:10232249:GGA:G	acceptor_gain	1.0000
1:10232430:GACCA:G	donor_gain	1.0000
1:10232431:ACCA:A	donor_gain	1.0000
1:10232432:CCA:C	donor_gain	1.0000
1:10232433:CA:C	donor_gain	1.0000
1:10232433:CAGT:C	donor_loss	1.0000
1:10232434:AG:A	donor_loss	1.0000
1:10232435:G:GG	donor_gain	1.0000
1:10232436:TGA:T	donor_loss	1.0000
1:10232437:GAGT:G	donor_loss	1.0000
1:10232438:AGTA:A	donor_loss	1.0000
1:10232439:G:GG	donor_gain	1.0000
1:10256242:TCTA:T	acceptor_loss	1.0000
1:10256243:CTAG:C	acceptor_loss	1.0000
1:10256244:TAGGT:T	acceptor_loss	1.0000
1:10256245:A:AG	acceptor_gain	1.0000
1:10256245:A:T	acceptor_loss	1.0000
1:10256246:G:GA	acceptor_gain	1.0000
1:10256246:GGT:G	acceptor_gain	1.0000
1:10256246:GGTA:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000000634 (1:10281006 A>T), RS1000031096 (1:10324462 G>A,C), RS1000035903 (1:10239403 C>T), RS1000064444 (1:10231516 A>T), RS1000084801 (1:10287779 A>C), RS1000099879 (1:10231288 C>T), RS1000104342 (1:10252212 G>A,C), RS1000108957 (1:10211655 C>A,G), RS1000110425 (1:10343533 G>A), RS1000120551 (1:10213040 A>C), RS1000133116 (1:10369417 C>A), RS1000161438 (1:10278289 C>G), RS1000173949 (1:10331269 T>C), RS1000184248 (1:10368874 T>C), RS1000187832 (1:10340792 G>A,T)

Disease associations

OMIM: gene MIM:605995 | disease phenotypes: MIM:118210, MIM:256700, MIM:171300, MIM:118220, MIM:171400, MIM:167000, MIM:617468, MIM:156000, MIM:182980

GenCC curated gene-disease

Disease	Classification	Inheritance
pheochromocytoma	Moderate	Autosomal dominant
Charcot-Marie-Tooth disease type 2A1	Supportive	Autosomal dominant
hereditary pheochromocytoma-paraganglioma	Supportive	Autosomal dominant
neuroblastoma, susceptibility to, 1	Limited	Autosomal dominant
complex neurodevelopmental disorder	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease type 2A1	No Known Disease Relationship	AD

Mondo (23): Charcot-Marie-Tooth disease type 2 (MONDO:0018993), Charcot-Marie-Tooth disease type 2A1 (MONDO:0007308), neuroblastoma, susceptibility to, 1 (MONDO:0009741), pheochromocytoma (MONDO:0008233), neuroblastoma (MONDO:0005072), Charcot-Marie-Tooth disease (MONDO:0015626), multiple endocrine neoplasia type 2A (MONDO:0008234), ovarian cancer (MONDO:0008170), hereditary neoplastic syndrome (MONDO:0015356), scoliosis (MONDO:0005392), arthrogryposis multiplex congenita (MONDO:0015168), congenital contractures (MONDO:0022823), breast cancer (MONDO:0007254), Meniere disease (MONDO:0007972), vitiligo (MONDO:0008661)

Orphanet (17): Autosomal dominant Charcot-Marie-Tooth disease type 2 (Orphanet:64746), Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (Orphanet:99946), Hereditary pheochromocytoma-paraganglioma (Orphanet:29072), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Neuroblastoma (Orphanet:635), Multiple endocrine neoplasia type 2A (Orphanet:247698), Multiple endocrine neoplasia type 2 (Orphanet:653), Rare ovarian cancer (Orphanet:213500), Inherited cancer-predisposing syndrome (Orphanet:140162), Arthrogryposis multiplex congenita (Orphanet:1037), OBSOLETE: Vitiligo-associated autoimmune disease (Orphanet:247871), Autosomal dominant adult-onset proximal spinal muscular atrophy (Orphanet:209335), Neuromuscular disease (Orphanet:68381), Charcot-Marie-Tooth disease type 1 (Orphanet:65753), Charcot-Marie-Tooth disease type 4 (Orphanet:64749)

HPO phenotypes

96 total (30 of 96 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000093	Proteinuria
HP:0000096	Glomerular sclerosis
HP:0000405	Conductive hearing impairment
HP:0000519	Developmental cataract
HP:0000526	Aniridia
HP:0000740	Episodic paroxysmal anxiety
HP:0000790	Hematuria
HP:0000822	Hypertension
HP:0000875	Episodic hypertension
HP:0000957	Cafe-au-lait spot
HP:0000975	Hyperhidrosis
HP:0000980	Pallor
HP:0001028	Hemangioma
HP:0001069	Episodic hyperhidrosis
HP:0001095	Hypertensive retinopathy
HP:0001251	Ataxia
HP:0001265	Hyporeflexia
HP:0001284	Areflexia
HP:0001293	Cranial nerve compression
HP:0001336	Myoclonus
HP:0001337	Tremor
HP:0001342	Cerebral hemorrhage
HP:0001442	Typified by somatic mosaicism
HP:0001508	Failure to thrive
HP:0001605	Vocal cord paralysis
HP:0001618	Dysphonia
HP:0001635	Congestive heart failure
HP:0001649	Tachycardia
HP:0001761	Pes cavus

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000263_1	Multiple sclerosis	3.000000e-10
GCST000752_1	Hepatocellular carcinoma	2.000000e-18
GCST001335_5	Mean platelet volume	3.000000e-08
GCST004500_105	Waist circumference adjusted for BMI (adjusted for smoking behaviour)	1.000000e-11
GCST004501_100	Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)	2.000000e-13
GCST004504_72	Waist circumference adjusted for BMI in non-smokers	3.000000e-14
GCST004599_240	Mean platelet volume	1.000000e-44
GCST004604_12	Hematocrit	7.000000e-09
GCST005559_2	Virologic severity in Herpes simplex virus type 2 infection	7.000000e-06
GCST005570_2	Hepatitis B virus-related hepatocellular carcinoma	6.000000e-06
GCST005830_119	Hand grip strength	3.000000e-10
GCST007294_110	Body fat distribution (trunk fat ratio)	1.000000e-07
GCST007294_149	Body fat distribution (trunk fat ratio)	7.000000e-16
GCST007294_88	Body fat distribution (trunk fat ratio)	2.000000e-09
GCST007295_12	Body fat distribution (leg fat ratio)	2.000000e-06
GCST007295_121	Body fat distribution (leg fat ratio)	6.000000e-07
GCST007295_94	Body fat distribution (leg fat ratio)	5.000000e-12
GCST009189_1	Lateral orbital frontal cortex volume	2.000000e-06
GCST012226_405	Waist circumference adjusted for body mass index	1.000000e-10
GCST012227_1126	Hip circumference adjusted for BMI	1.000000e-09
GCST90002393_115	Monocyte count	8.000000e-15
GCST90002394_126	Monocyte percentage of white cells	1.000000e-14
GCST90002395_501	Mean platelet volume	1.000000e-116
GCST90002398_40	Neutrophil count	2.000000e-10
GCST90002402_527	Platelet count	3.000000e-22
GCST90002407_386	White blood cell count	7.000000e-16
GCST90020028_653	Hip circumference adjusted for BMI	3.000000e-11

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior
EFO:0007789	BMI-adjusted waist circumference
EFO:0004348	hematocrit
EFO:0009010	HSV2 virologic severity measurement
EFO:0006941	grip strength measurement
EFO:0004341	body fat distribution
EFO:0008039	BMI-adjusted hip circumference
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count
EFO:0004309	platelet count

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D008575	Meniere Disease	C09.218.568.217.500
D018813	Multiple Endocrine Neoplasia Type 2a	C04.588.322.400.505; C04.651.600.505; C04.700.630.505; C16.320.700.630.505; C19.344.400.505
D009386	Neoplastic Syndromes, Hereditary	C04.700; C16.320.700
D009447	Neuroblastoma	C04.557.465.625.600.590.650.550; C04.557.470.670.590.650.550; C04.557.580.625.600.590.650.550
D009468	Neuromuscular Diseases	C10.668
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
D010673	Pheochromocytoma	C04.557.465.625.650.700.725; C04.557.580.625.650.700.725
D012600	Scoliosis	C05.116.900.800.875
D014820	Vitiligo	C17.800.621.440.895
C566138	Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5889 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
cobaltous chloride	increases expression	2
Silicon Dioxide	decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
FR900359	affects phosphorylation	1
uranyl acetate	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenate	decreases expression	1
trichostatin A	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
zinc chromate	increases abundance, increases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	increases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Norethindrone Acetate	affects cotreatment, increases expression	1
Atrazine	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Benzene	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1020052	Binding	Inhibition of cloned human Kif1B	Kinesin spindle protein (KSP) inhibitors. 9. Discovery of (2S)-4-(2,5-difluorophenyl)-n-[(3R,4S)-3-fluoro-1-methylpiperidin-4-yl]-2-(hydroxymethyl)-N-methyl-2-phenyl-2,5-dihydro-1H-pyrrole-1-carboxamide (MK-0731) for the treatment of taxane-refractory cancer. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01379898	PHASE4	COMPLETED	Phenoxybenzamine Versus Doxazosin in PCC Patients
NCT01959711	PHASE4	COMPLETED	Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Laparoscopic Adrenalectomy
NCT05702944	PHASE4	RECRUITING	The Effect and Safety of Omitting Preoperative Alpha-adrenergic Blockade for Normotensive Pheochromocytoma
NCT00336531	PHASE4	COMPLETED	Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation
NCT02933333	PHASE4	UNKNOWN	G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
NCT06047535	PHASE4	NOT_YET_RECRUITING	Naxitamab and Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) Combined With Isotretinoin for Maintenance Treatment of Patients With High-Risk Neuroblastoma in First Complete Response.
NCT00002641	PHASE3	COMPLETED	Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma
NCT00002764	PHASE3	COMPLETED	Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma
NCT00126412	PHASE3	COMPLETED	Meta-Iodobenzylguanidine (123I mIBG) Scintigraphy in Patients Being Evaluated for Phaeochromocytoma or Neuroblastoma
NCT01373736	PHASE3	UNKNOWN	123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors
NCT03176693	PHASE3	COMPLETED	Preoperative Alpha Blockade for Pheochromocytoma
NCT00002802	PHASE3	COMPLETED	Therapy Based on Stage of Disease and Risk Assessment in Treating Children With Neuroblastoma
NCT00003093	PHASE3	COMPLETED	Combination Chemotherapy in Treating Children With Neuroblastoma
NCT00003119	PHASE3	COMPLETED	Surgery in Treating Children With Neuroblastoma
NCT00004188	PHASE3	COMPLETED	Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma
NCT00025428	PHASE3	COMPLETED	Combination Chemotherapy Before Surgery in Treating Children With Localized Neuroblastoma
NCT00026312	PHASE3	COMPLETED	Isotretinoin With or Without Dinutuximab, Aldesleukin, and Sargramostim Following Stem Cell Transplant in Treating Patients With Neuroblastoma
NCT00030719	PHASE3	UNKNOWN	Combination Chemotherapy With or Without Filgrastim Before Surgery, High-Dose Chemotherapy, and Radiation Therapy Followed by Isotretinoin With or Without Monoclonal Antibody in Treating Patients With Neuroblastoma
NCT00033293	PHASE3	COMPLETED	Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma
NCT00276731	PHASE3	UNKNOWN	Combination Chemotherapy Followed By Surgery With or Without Radiation Therapy in Treating Young Patients With Stage II or Stage III Neuroblastoma
NCT00324324	PHASE3	TERMINATED	Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant
NCT00365755	PHASE3	COMPLETED	Combination Chemotherapy in Treating Young Patients Who Are Undergoing Surgery and an Autologous Bone Marrow Transplant for Disseminated Neuroblastoma
NCT00410631	PHASE3	UNKNOWN	Observation, Combination Chemotherapy, Radiation Therapy, and/or Autologous Stem Cell Transplant in Treating Young Patients With Neuroblastoma
NCT00416676	PHASE3	UNKNOWN	Combination Chemotherapy and Surgery With or Without Radiation Therapy in Treating Patients With Stage 2 or Stage 3 Neuroblastoma
NCT00417053	PHASE3	UNKNOWN	Combination Chemotherapy in Treating Infants With Newly Diagnosed Neuroblastoma Who Are Undergoing Surgery With or Without Autologous Bone Marrow or Peripheral Stem Cell Transplant
NCT00499616	PHASE3	COMPLETED	Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma
NCT00567567	PHASE3	COMPLETED	Comparing Two Different Myeloablation Therapies in Treating Young Patients Who Are Undergoing a Stem Cell Transplant for High-Risk Neuroblastoma
NCT00716976	PHASE3	COMPLETED	Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy
NCT00782145	PHASE3	COMPLETED	A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families
NCT01704716	PHASE3	RECRUITING	High Risk Neuroblastoma Study 1.8 of SIOP-Europe (SIOPEN)
NCT01868269	PHASE3	COMPLETED	Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)
NCT01987596	PHASE3	TERMINATED	Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer
NCT02176967	PHASE3	ACTIVE_NOT_RECRUITING	Response and Biology-Based Risk Factor-Guided Therapy in Treating Younger Patients With Non-high Risk Neuroblastoma
NCT03042416	PHASE3	COMPLETED	18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety
NCT03042429	PHASE3	COMPLETED	Combination Chemotherapy Followed by Stem Cell Transplant in High-risk Neuroblastoma Patients
NCT03126916	PHASE3	RECRUITING	Testing the Addition of 131I-MIBG or Lorlatinib to Intensive Therapy in People With High-Risk Neuroblastoma (NBL)
NCT04706910	PHASE3	RECRUITING	18F-DOPA II - PET Imaging Optimization
NCT04724369	PHASE3	ACTIVE_NOT_RECRUITING	Open-Label Study of 18F-mFBG for Imaging Neuroblastoma
NCT06071897	PHASE3	RECRUITING	Induction Chemoimmunotherapy for Patients With High-risk Neuroblastoma
NCT06172296	PHASE3	RECRUITING	Dinutuximab With Chemotherapy, Surgery and Stem Cell Transplantation for the Treatment of Children With Newly Diagnosed High Risk Neuroblastoma