KIF20B

Summary

KIF20B (kinesin family member 20B, HGNC:7212) is a protein-coding gene on chromosome 10q23.31, encoding Kinesin-like protein KIF20B (Q96Q89). Plus-end-directed motor enzyme that is required for completion of cytokinesis.

Enables several functions, including ATP hydrolysis activity; WW domain binding activity; and plus-end-directed microtubule motor activity. Involved in positive regulation of cell population proliferation and positive regulation of cytokinesis. Located in several cellular components, including microtubule cytoskeleton; midbody; and nuclear lumen.

Source: NCBI Gene 9585 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 305 total
• Druggable target: yes
• MANE Select transcript: NM_001284259

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7212
Approved symbol	KIF20B
Name	kinesin family member 20B
Location	10q23.31
Locus type	gene with protein product
Status	Approved
Aliases	MPP1, KRMP1, CT90
Ensembl gene	ENSG00000138182
Ensembl biotype	protein_coding
OMIM	605498
Entrez	9585

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000260753, ENST00000371728, ENST00000447580, ENST00000478929, ENST00000919433

RefSeq mRNA: 3 — MANE Select: NM_001284259 NM_001284259, NM_001382506, NM_016195

CCDS: CCDS60590, CCDS7407

Canonical transcript exons

ENST00000371728 — 33 exons

Exon	Start	End
ENSE00001402159	89726293	89726521
ENSE00001594098	89705294	89705441
ENSE00001611465	89717424	89717495
ENSE00001628880	89719419	89719706
ENSE00001678309	89710961	89711145
ENSE00001684264	89718710	89718872
ENSE00001688032	89717576	89717722
ENSE00001725913	89709167	89709253
ENSE00001757383	89709345	89709461
ENSE00001768025	89716436	89716547
ENSE00001786379	89709927	89710065
ENSE00001792972	89723964	89724103
ENSE00001804743	89714047	89714083
ENSE00001805944	89714955	89715182
ENSE00001855774	89701590	89701680
ENSE00003483896	89768738	89768888
ENSE00003487463	89760526	89760636
ENSE00003488854	89732903	89733056
ENSE00003524880	89754518	89754673
ENSE00003527873	89727856	89727896
ENSE00003571528	89758706	89758882
ENSE00003574819	89737387	89738617
ENSE00003594452	89751346	89751471
ENSE00003602220	89762638	89762835
ENSE00003603410	89745899	89745959
ENSE00003615894	89729128	89729247
ENSE00003623198	89768290	89768391
ENSE00003626710	89725020	89725158
ENSE00003634535	89772689	89772831
ENSE00003667049	89743808	89743927
ENSE00003676981	89738958	89739096
ENSE00003689546	89752567	89752691
ENSE00003910011	89773971	89774934

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 94.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4970 / max 238.4598, expressed in 1504 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106155	8.0823	1444
106156	2.1823	815
106157	0.2324	127

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.19	gold quality
oocyte	CL:0000023	90.20	gold quality
secondary oocyte	CL:0000655	88.16	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.38	gold quality
ventricular zone	UBERON:0003053	87.30	gold quality
calcaneal tendon	UBERON:0003701	82.60	gold quality
ganglionic eminence	UBERON:0004023	81.27	gold quality
trabecular bone tissue	UBERON:0002483	81.16	silver quality
bone marrow cell	CL:0002092	77.60	gold quality
bone marrow	UBERON:0002371	77.41	gold quality
embryo	UBERON:0000922	76.17	gold quality
upper leg skin	UBERON:0004262	75.85	gold quality
adrenal tissue	UBERON:0018303	75.67	gold quality
stromal cell of endometrium	CL:0002255	75.55	gold quality
cortical plate	UBERON:0005343	75.41	gold quality
rectum	UBERON:0001052	74.70	gold quality
vermiform appendix	UBERON:0001154	73.66	gold quality
amniotic fluid	UBERON:0000173	73.07	gold quality
pigmented layer of retina	UBERON:0001782	73.05	silver quality
buccal mucosa cell	CL:0002336	72.51	silver quality
monocyte	CL:0000576	72.15	gold quality
testis	UBERON:0000473	72.03	gold quality
lymph node	UBERON:0000029	71.99	gold quality
leukocyte	CL:0000738	71.91	gold quality
mononuclear cell	CL:0000842	71.83	gold quality
esophagus mucosa	UBERON:0002469	70.93	gold quality
oral cavity	UBERON:0000167	70.83	silver quality
right testis	UBERON:0004534	70.25	gold quality
skin of hip	UBERON:0001554	70.10	gold quality
caecum	UBERON:0001153	69.21	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-124858	yes	284.18
E-ANND-3	yes	6.74
E-CURD-88	yes	5.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting KIF20B, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 7)

• MPP1 is a new mitotic molecular motor required for completion of cytokinesis (PMID:12740395)
• KIF20B has a cell-autonomous role in cytokinesis. KIF20B depletion affects the speed of both furrow ingression and abscission. It localizes to microtubules of the central spindle and midbody throughout cytokinesis, at sites distinct from the other Kinesin-6 family members. (PMID:29167382)
• KIF20B may be a potential biomarker and promising treatment target for CRC. (PMID:29573464)
• the high level of KIF20B in oral squamous cell carcinoma was significantly associated with poor clinicopathological features and survival. KIF20B might promote cancer development through enhancing cell proliferation in vitro, and might be a potential biomarker of oral squamous cell carcinoma. (PMID:30664160)
• USP7 Regulates Cytokinesis through FBXO38 and KIF20B. (PMID:30804394)
• KIF20B Correlates with LUAD Progression and Is an Independent Risk Factor. (PMID:38305288)
• Characterization of KIF20B as a novel prognostic biomarker and therapeutic target for breast cancer. (PMID:38426627)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif20bb	ENSDARG00000040110
danio_rerio	kif20ba	ENSDARG00000071009
mus_musculus	Kif20b	ENSMUSG00000024795
rattus_norvegicus	Kif20b	ENSRNOG00000018929

Protein

Protein identifiers

Kinesin-like protein KIF20B — Q96Q89 (reviewed: Q96Q89)

Alternative names: Cancer/testis antigen 90, Kinesin family member 20B, Kinesin-related motor interacting with PIN1, M-phase phosphoprotein 1

All UniProt accessions (2): Q96Q89, A0A0A0MSJ5

UniProt curated annotations — full annotation on UniProt →

Function. Plus-end-directed motor enzyme that is required for completion of cytokinesis. Required for proper midbody organization and abscission in polarized cortical stem cells. Plays a role in the regulation of neuronal polarization by mediating the transport of specific cargos. Participates in the mobilization of SHTN1 and in the accumulation of PIP3 in the growth cone of primary hippocampal neurons in a tubulin and actin-dependent manner. In the developing telencephalon, cooperates with SHTN1 to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in cerebral cortex growth. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression.

Subunit / interactions. Oligomerizes (via kinesin motor domain). Associates with microtubules. Interacts (via C-terminal globular tail region) with PIN1 (via WW domain). Interacts with PRC1. Interacts with SHTN1 (via N-terminus); the interaction is direct and promotes the association of SHTN1 to microtubules in primary neurons.

Subcellular location. Nucleus. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleolus. Nucleoplasm. Spindle. Spindle pole. Midbody. Cell projection. Axon. Growth cone.

Tissue specificity. Brain, ovary, kidney and testis (at protein level). Overexpressed in bladder cancer cells (at protein level). Expressed in testis. Overexpressed in bladder cancer cells.

Post-translational modifications. Phosphorylated during mitosis by CDK1.

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

Isoforms (5)

UniProt ID	Names	Canonical?
Q96Q89-1	1	yes
Q96Q89-2	2
Q96Q89-3	3
Q96Q89-4	4
Q96Q89-5	5

RefSeq proteins (3): NP_001271188, NP_001369435, NP_057279 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001752	Kinesin_motor_dom	Domain
IPR019821	Kinesin_motor_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR047149	KIF11-like	Family

Pfam: PF00225

UniProt features (52 total): sequence conflict 15, sequence variant 11, modified residue 8, region of interest 5, splice variant 5, compositionally biased region 3, coiled-coil region 2, chain 1, domain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96Q89-F1	63.21	0.09

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): 152–159

Post-translational modifications (8): 488, 560, 997, 1588, 1644, 1658, 1715, 1740

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: 691 (showing top): GOBP_MITOTIC_CYTOKINESIS, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, SHEPARD_BMYB_MORPHOLINO_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_REGULATION_OF_NUCLEAR_DIVISION, KAAB_FAILED_HEART_ATRIUM_DN

GO Biological Process (15): neural tube closure (GO:0001843), microtubule-based movement (GO:0007018), regulation of mitotic nuclear division (GO:0007088), positive regulation of cell population proliferation (GO:0008284), positive regulation of cytokinesis (GO:0032467), protein localization to microtubule (GO:0035372), neuron projection morphogenesis (GO:0048812), cell division (GO:0051301), regulation of cell cycle (GO:0051726), positive regulation of intracellular protein transport (GO:0090316), positive regulation of mitotic cytokinetic process (GO:1903438), regulation of establishment of cell polarity (GO:2000114), positive regulation of neuron migration (GO:2001224), regulation of establishment of protein localization (GO:0070201), regulation of neuron migration (GO:2001222)

GO Molecular Function (10): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), protein homodimerization activity (GO:0042803), WW domain binding (GO:0050699), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)

GO Cellular Component (24): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), kinesin complex (GO:0005871), microtubule (GO:0005874), growth cone (GO:0030426), midbody (GO:0030496), perinuclear theca (GO:0033011), ciliary basal body (GO:0036064), intercellular bridge (GO:0045171), perinuclear region of cytoplasm (GO:0048471), spindle midzone (GO:0051233), contractile ring (GO:0070938), mitotic spindle pole (GO:0097431), mitotic spindle midzone (GO:1990023), spindle pole (GO:0000922), spindle (GO:0005819), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630), axon (GO:0030424), cell projection (GO:0042995)

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	9
neuron migration	2
ATP-dependent activity	2
nuclear lumen	2
intracellular membraneless organelle	2
microtubule organizing center	2
cytoplasm	2
microtubule cytoskeleton	2
spindle	2
mitotic spindle	2
primary neural tube formation	1
tube closure	1
microtubule-based process	1
regulation of mitotic cell cycle	1
regulation of cell cycle process	1
regulation of nuclear division	1
mitotic nuclear division	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cytokinesis	1
regulation of cytokinesis	1
positive regulation of cell division	1
positive regulation of cell cycle process	1
protein localization to microtubule cytoskeleton	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
cellular process	1
cell cycle	1
regulation of cellular process	1
intracellular protein transport	1
positive regulation of intracellular transport	1
regulation of intracellular protein transport	1
positive regulation of protein transport	1
mitotic cytokinetic process	1
regulation of mitotic cytokinetic process	1
positive regulation of mitotic cytokinesis	1
establishment of cell polarity	1
regulation of establishment or maintenance of cell polarity	1
positive regulation of cell migration	1

Protein interactions and networks

STRING

1934 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF20B	HTR7	P34969	786
KIF20B	CYP2C18	P33260	753
KIF20B	NUF2	Q9BZD4	669
KIF20B	CYP2C19	P33259	653
KIF20B	CYP2C9	P11712	642
KIF20B	DEPDC1	Q5TB30	593
KIF20B	GRIP1	Q9Y3R0	572
KIF20B	FOXM1	Q08050	564
KIF20B	PHGDH	O43175	549
KIF20B	IDE	P14735	546
KIF20B	KIF15	Q9NS87	531
KIF20B	CDCA8	Q53HL2	526
KIF20B	SHTN1	A0MZ66	525
KIF20B	TTK	P33981	524
KIF20B	PLK4	O00444	518

IntAct

40 interactions, top by confidence:

A	B	Type	Score
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
CBX6	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
CCDC89	ZMYM6	psi-mi:“MI:0914”(association)	0.530
NDEL1	OFD1	psi-mi:“MI:0914”(association)	0.530
SGF29	MATN2	psi-mi:“MI:0914”(association)	0.530
KIF20B	OCIAD2	psi-mi:“MI:0915”(physical association)	0.400
KIF20B	SAP18	psi-mi:“MI:0915”(physical association)	0.400
KIF20B	VIM	psi-mi:“MI:0915”(physical association)	0.400
KIF20B	H1-2	psi-mi:“MI:0915”(physical association)	0.400
KIF20B	ACSL3	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
S	IGLL5	psi-mi:“MI:0914”(association)	0.350
CBX8	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
KPNA4	POM121C	psi-mi:“MI:0914”(association)	0.350
NCAPH	EIF3CL	psi-mi:“MI:0914”(association)	0.350
NDEL1	SHTN1	psi-mi:“MI:0914”(association)	0.350
MTMR10	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
H2AJ	WDR46	psi-mi:“MI:0914”(association)	0.350
CFAP141	WDR46	psi-mi:“MI:0914”(association)	0.350
SERF2	WDR46	psi-mi:“MI:0914”(association)	0.350
GNL2	POLR1G	psi-mi:“MI:0914”(association)	0.350
TCP10L	RNF40	psi-mi:“MI:0914”(association)	0.350

BioGRID (109): CRY1 (Affinity Capture-MS), EEF1G (Affinity Capture-MS), ACSL3 (Affinity Capture-MS), HSP90B1 (Affinity Capture-MS), CDC42BPA (Affinity Capture-MS), STAG1 (Affinity Capture-MS), KDM2A (Affinity Capture-MS), ASTE1 (Affinity Capture-MS), SLC38A2 (Affinity Capture-MS), IMPACT (Affinity Capture-MS), CCDC94 (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), CMBL (Affinity Capture-MS), C1orf52 (Affinity Capture-MS), KIF20B (Affinity Capture-MS)

ESM2 similar proteins: A6ZWU0, C5DZ48, C5E006, O13684, O14043, O14226, O14261, O62479, O94488, O94560, P01129, P06701, P21268, P25651, P32489, P33420, P34606, P38859, P40214, P40418, P40574, P53148, P53159, P87245, Q01649, Q03281, Q04377, Q08550, Q10200, Q10432, Q10477, Q12045, Q12527, Q1MTQ0, Q5UQJ3, Q60P76, Q67C55, Q6CRH4, Q6CRN7, Q6CS73

Diamond homologs: A8BB91, B1AVY7, B3H6Z8, B7EJ91, B7ZC32, B7ZNG0, B9EY52, B9FL70, B9FTR1, B9FUF9, B9G8P1, B9GE13, D3YXS5, E9Q5G3, F4HZF0, F4IAR2, F4IL57, F4J1U4, F4JX00, F4K0J3, F8WLE0, O14343, O23826, O35231, O43093, O45935, O59751, O60282, O81635, O95235, O95239, P17119, P17210, P21613, P23678, P24339, P28738, P28739, P33174, P33175

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CDK1	“up-regulates activity”	KIF20B	phosphorylation
KIF20B	up-regulates	“Plus-end directed sliding movement”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	254
Likely benign	26
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

7671 predictions. Top by Δscore:

Variant	Effect	Δscore
10:89705292:A:AG	acceptor_gain	1.0000
10:89705293:G:GG	acceptor_gain	1.0000
10:89705293:GA:G	acceptor_gain	1.0000
10:89709164:A:AG	acceptor_gain	1.0000
10:89709164:AAG:A	acceptor_gain	1.0000
10:89709165:A:G	acceptor_gain	1.0000
10:89709250:TGAGG:T	donor_loss	1.0000
10:89709251:GAGGT:G	donor_loss	1.0000
10:89709252:AG:A	donor_loss	1.0000
10:89709255:T:A	donor_loss	1.0000
10:89709772:T:TA	acceptor_gain	1.0000
10:89709773:A:AA	acceptor_gain	1.0000
10:89709923:TTAG:T	acceptor_loss	1.0000
10:89709925:AGGTT:A	acceptor_loss	1.0000
10:89709926:G:GT	acceptor_loss	1.0000
10:89710045:G:GT	donor_gain	1.0000
10:89710061:TCAAG:T	donor_loss	1.0000
10:89710063:AAGG:A	donor_loss	1.0000
10:89710064:AGGTA:A	donor_loss	1.0000
10:89710065:GGTA:G	donor_loss	1.0000
10:89710066:G:A	donor_loss	1.0000
10:89710067:T:A	donor_loss	1.0000
10:89710956:T:TA	acceptor_gain	1.0000
10:89710957:GCAGG:G	acceptor_loss	1.0000
10:89710959:A:AG	acceptor_gain	1.0000
10:89710959:AG:A	acceptor_gain	1.0000
10:89710959:AGG:A	acceptor_gain	1.0000
10:89710960:G:GC	acceptor_gain	1.0000
10:89710960:GG:G	acceptor_gain	1.0000
10:89710960:GGG:G	acceptor_gain	1.0000

AlphaMissense

12154 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:89710029:G:T	G152W	0.999
10:89709210:G:C	R64P	0.998
10:89710030:G:A	G152E	0.998
10:89710048:A:T	K158I	0.998
10:89716544:G:C	R350T	0.998
10:89717593:T:C	L381P	0.998
10:89718733:G:C	R432P	0.998
10:89718738:A:C	S434R	0.998
10:89718740:T:A	S434R	0.998
10:89718740:T:G	S434R	0.998
10:89709207:T:C	L63P	0.997
10:89710029:G:A	G152R	0.997
10:89710029:G:C	G152R	0.997
10:89715056:T:A	W272R	0.997
10:89715056:T:C	W272R	0.997
10:89716545:A:C	R350S	0.997
10:89716545:A:T	R350S	0.997
10:89717671:T:C	L407S	0.997
10:89717680:T:C	L410P	0.997
10:89717688:T:C	C413R	0.997
10:89718799:T:A	V454D	0.997
10:89709207:T:A	L63H	0.996
10:89710015:T:C	L147P	0.996
10:89710030:G:T	G152V	0.996
10:89710057:C:A	T161K	0.996
10:89716544:G:T	R350I	0.996
10:89716546:A:C	S351R	0.996
10:89717424:T:A	S351R	0.996
10:89717424:T:G	S351R	0.996
10:89717590:A:C	D380A	0.996

dbSNP variants (sampled 300 via entrez): RS1000002788 (10:89716704 C>T), RS1000040218 (10:89763825 T>G), RS1000118225 (10:89717023 G>A), RS1000128835 (10:89745250 C>G), RS1000165345 (10:89728841 A>G), RS1000166952 (10:89730438 C>A), RS1000294355 (10:89702852 G>A,C), RS1000322995 (10:89763455 G>A), RS1000467239 (10:89703135 A>G), RS1000543690 (10:89719787 GT>G,GTT), RS1000599011 (10:89734780 A>G), RS1000624659 (10:89772018 A>G), RS1000633929 (10:89706887 G>T), RS1000713066 (10:89771074 CTT>C), RS1000722623 (10:89723096 A>G)

Disease associations

OMIM: gene MIM:605498 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002365_4	Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)	4.000000e-07
GCST012202_4	Distal/Left-sided colorectal cancer	8.000000e-09
GCST012205_5	Distal colorectal cancer	1.000000e-06
GCST90002397_544	Mean spheric corpuscular volume	3.000000e-09
GCST90002403_221	Red blood cell count	1.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000180	HIV-1 infection
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2021752 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 9 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.34	IC50	4600	nM	PHYSODIC ACID
5.24	IC50	5800	nM	PHYSODIC ACID
5.12	IC50	7600	nM	CHEMBL368810
5.00	IC50	9900	nM	PHYSODIC ACID

PubChem BioAssay actives

4 with measured affinity, of 30 total; 2 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
3,9-dihydroxy-6-oxo-7-(2-oxoheptyl)-1-pentylbenzo[b][1,4]benzodioxepine-2-carboxylic acid	1320895: Inhibition of microtubule-stimulated ATPase activity of N-terminal His6-tagged/SUMO-fused human MPP1 motor domain (2 to 477 residues) expressed in Escherichia coli BL21 CodonPlus by pyruvate kinase/lactate dehydrogenase-linked assay	ic50	4.6000	uM
3,9-dihydroxy-7-pentanoyl-1-pentylbenzo[b][1,4]benzodioxepin-6-one	1320895: Inhibition of microtubule-stimulated ATPase activity of N-terminal His6-tagged/SUMO-fused human MPP1 motor domain (2 to 477 residues) expressed in Escherichia coli BL21 CodonPlus by pyruvate kinase/lactate dehydrogenase-linked assay	ic50	7.6000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Valproic Acid	decreases expression	3
bisphenol A	decreases expression, decreases methylation	2
Benzo(a)pyrene	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
afuresertib	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	decreases expression	1
methylselenic acid	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
cupric oxide	decreases expression	1
caffeic acid	increases expression, increases reaction	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
2,3-dimethoxy-1,4-naphthoquinone	increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
4-methoxycinnamate methyl ester	increases expression, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
aurapten	affects expression	1

ChEMBL screening assays

14 unique, capped per target: 14 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2024751	Binding	Inhibition of MPP1 ATPase activity	Triphenylbutanamines: kinesin spindle protein inhibitors with in vivo antitumor activity. — J Med Chem

Clinical trials (associated diseases)

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