KIF21B

Summary

KIF21B (kinesin family member 21B, HGNC:29442) is a protein-coding gene on chromosome 1q32.1, encoding Kinesin-like protein KIF21B (O75037). Plus-end directed microtubule-dependent motor protein which displays processive activity.

This gene encodes a member of the kinesin superfamily. Kinesins are ATP-dependent microtubule-based motor proteins that are involved in the intracellular transport of membranous organelles. Single nucleotide polymorphisms in this gene are associated with inflammatory bowel disease and multiple sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 23046 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
• GWAS associations: 23
• Clinical variants (ClinVar): 350 total
• MANE Select transcript: NM_001252102

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29442
Approved symbol	KIF21B
Name	kinesin family member 21B
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434J212, KIAA0449
Ensembl gene	ENSG00000116852
Ensembl biotype	protein_coding
OMIM	608322
Entrez	23046

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000332129, ENST00000360529, ENST00000422435, ENST00000461742, ENST00000534043

RefSeq mRNA: 4 — MANE Select: NM_001252102 NM_001252100, NM_001252102, NM_001252103, NM_017596

CCDS: CCDS30965, CCDS58054, CCDS58055, CCDS58056

Canonical transcript exons

ENST00000461742 — 35 exons

Exon	Start	End
ENSE00000522214	200988766	200988931
ENSE00000522216	200988493	200988544
ENSE00000791207	200989942	200990043
ENSE00000796442	200984859	200984972
ENSE00000796444	200986996	200987201
ENSE00000796445	200988296	200988353
ENSE00000796446	200990138	200990332
ENSE00000796447	200990576	200990723
ENSE00001073830	200976776	200976893
ENSE00001073832	200974714	200974913
ENSE00001073833	200975499	200975669
ENSE00001073836	200980960	200981096
ENSE00001073837	200979535	200979715
ENSE00001073838	200977212	200977376
ENSE00001073963	200990917	200991149
ENSE00001139205	200986844	200986918
ENSE00001295045	201008769	201008951
ENSE00001304748	201000390	201000608
ENSE00001308140	201002161	201002350
ENSE00001318927	201004766	201004933
ENSE00001322023	201005545	201005694
ENSE00001324327	201000717	201000780
ENSE00001328063	201003586	201003781
ENSE00001373994	201009266	201009488
ENSE00001444264	200991657	200991725
ENSE00001444265	200992282	200992389
ENSE00001444266	200996196	200996395
ENSE00001444268	200998384	200998575
ENSE00001444269	200999349	200999466
ENSE00001444270	200999883	200999964
ENSE00001817533	200983056	200983094
ENSE00003605179	201005308	201005442
ENSE00003668463	201004340	201004455
ENSE00003905778	200969390	200973578
ENSE00003907033	201023343	201023714

Expression profiles

Bgee: expression breadth ubiquitous, 216 present calls, max score 97.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9629 / max 1532.1054, expressed in 1125 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16600	5.5858	778
16601	3.6230	897
16599	2.7541	490

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.91	gold quality
ganglionic eminence	UBERON:0004023	97.16	gold quality
Brodmann (1909) area 10	UBERON:0013541	91.06	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.68	gold quality
granulocyte	CL:0000094	90.51	gold quality
blood	UBERON:0000178	90.21	gold quality
pigmented layer of retina	UBERON:0001782	90.01	gold quality
entorhinal cortex	UBERON:0002728	89.97	gold quality
CA1 field of hippocampus	UBERON:0003881	89.09	gold quality
orbitofrontal cortex	UBERON:0004167	89.02	gold quality
frontal pole	UBERON:0002795	88.44	gold quality
prefrontal cortex	UBERON:0000451	87.38	gold quality
frontal cortex	UBERON:0001870	86.63	gold quality
temporal lobe	UBERON:0001871	86.48	gold quality
embryo	UBERON:0000922	86.33	gold quality
neocortex	UBERON:0001950	86.28	gold quality
superior frontal gyrus	UBERON:0002661	86.02	gold quality
cerebral cortex	UBERON:0000956	85.88	gold quality
cingulate cortex	UBERON:0003027	85.45	gold quality
bone marrow cell	CL:0002092	85.38	gold quality
anterior cingulate cortex	UBERON:0009835	85.35	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.00	gold quality
amygdala	UBERON:0001876	84.75	gold quality
right frontal lobe	UBERON:0002810	84.48	gold quality
middle frontal gyrus	UBERON:0002702	84.44	gold quality
postcentral gyrus	UBERON:0002581	84.37	gold quality
Ammon’s horn	UBERON:0001954	83.69	gold quality
middle temporal gyrus	UBERON:0002771	83.69	gold quality
parietal lobe	UBERON:0001872	83.64	gold quality
telencephalon	UBERON:0001893	83.58	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	10.74
E-ANND-3	yes	4.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

266 targeting KIF21B, 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-8485	100.00	77.57	4731
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-1184	99.99	68.19	1458
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788

Literature-anchored findings (GeneRIF, showing 8)

• Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B as susceptibility loci (PMID:20007504)
• Data show the association of SNPs in KIF21B with multiple sclerosis in a Belgian study population. (PMID:20587413)
• KIF21B may play an important role in the pathogenesis of AS in the Chinese population and might be a new therapeutic target for AS. (PMID:24065353)
• KIF21B is associated with ankylosing spondylitis in a Chinese population of Shandong Province (PMID:25149646)
• Thus, KIF21B combines microtubule-binding and regulatory activities that together constitute an autonomous microtubule pausing factor. (PMID:28290984)
• Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. (PMID:32415109)
• Kinesin-4 KIF21B limits microtubule growth to allow rapid centrosome polarization in T cells. (PMID:33346730)
• Targeting kinesin family member 21B by miR-132-3p represses cell proliferation, migration and invasion in gastric cancer. (PMID:35341446)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif21b	ENSDARG00000009733
mus_musculus	Kif21b	ENSMUSG00000041642
rattus_norvegicus	Kif21b	ENSRNOG00000008471

Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), 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 KIF21B — O75037 (reviewed: O75037)

All UniProt accessions (1): O75037

UniProt curated annotations — full annotation on UniProt →

Function. Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface.

Subunit / interactions. Interacts with TRIM3; the interaction positively affects motility of KIF21B. Interacts with GABARAP and GABA(A) receptor subunits: GABRG2, GABRA1 and GABRA2. May interact with GABA(A) receptor subunits: GABRB2 and GABRB3.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Dendrite. Growth cone. Axon. Cytoplasmic vesicle.

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

Isoforms (4)

UniProt ID	Names	Canonical?
O75037-1	1	yes
O75037-2	2
O75037-3	3
O75037-4	4

RefSeq proteins (4): NP_001239029, NP_001239031, NP_001239032, NP_060066 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR001752	Kinesin_motor_dom	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR019821	Kinesin_motor_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR027640	Kinesin-like_fam	Family
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR056532	KIF21A/B_hel_2	Domain
IPR056533	KIF21A/B_hel_1	Domain

Pfam: PF00225, PF00400, PF23203, PF23204, PF25764

UniProt features (32 total): repeat 7, modified residue 7, region of interest 6, compositionally biased region 4, coiled-coil region 3, splice variant 2, chain 1, domain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75037-F1	70.07	0.25

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): 87–94

Post-translational modifications (7): 579, 582, 1149, 1167, 1215, 1237, 1241

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: 295 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, MODULE_45, MATTIOLI_MGUS_VS_PCL, GOCC_KINESIN_COMPLEX, REACTOME_MEMBRANE_TRAFFICKING, MODULE_16, MODULE_66, GTGCCTT_MIR506, MODULE_118, CEBALLOS_TARGETS_OF_TP53_AND_MYC_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, MODULE_379, KREPPEL_CD99_TARGETS_DN, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, MODULE_88

GO Biological Process (1): microtubule-based movement (GO:0007018)

GO Molecular Function (6): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), dendrite (GO:0030425), growth cone (GO:0030426), cytoplasmic vesicle (GO:0031410), cytoskeleton (GO:0005856), 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
ATP-dependent activity	2
cellular anatomical structure	2
neuron projection	2
microtubule-based process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
ribonucleoside triphosphate phosphatase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular anatomical structure	1
microtubule associated complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
dendritic tree	1
site of polarized growth	1
distal axon	1
cytoplasm	1
intracellular vesicle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1109 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF21B	TRIM3	O75382	682
KIF21B	ERAP1	Q9NZ08	477
KIF21B	GPR25	O00155	453
KIF21B	TMEM39A	Q9NV64	442
KIF21B	INAVA	Q3KP66	419
KIF21B	TMPO	P08918	413
KIF21B	NSD2	O96028	404
KIF21B	ANTXR2	P58335	398
KIF21B	MKLN1	Q9UL63	398
KIF21B	SPEM2	Q0P670	387
KIF21B	PUS10	Q3MIT2	385
KIF21B	MAPRE3	Q9UPY8	384
KIF21B	CARD9	Q9H257	378
KIF21B	WDR26	Q9H7D7	377
KIF21B	IL23R	Q5VWK5	367

IntAct

32 interactions, top by confidence:

A	B	Type	Score
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
NUDC	KIF21B	psi-mi:“MI:0915”(physical association)	0.400
TK1	KIF21B	psi-mi:“MI:0915”(physical association)	0.370
Oxnad1	KPNA6	psi-mi:“MI:0914”(association)	0.350
KIF21B		psi-mi:“MI:0914”(association)	0.350
TMEM248	TAF1	psi-mi:“MI:0914”(association)	0.350
USF1	MAP3K4	psi-mi:“MI:0914”(association)	0.350
ZNF281	KIF21B	psi-mi:“MI:0914”(association)	0.350
HAUS2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
CUL3	KIF21B	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
PFDN6	ASDURF	psi-mi:“MI:0914”(association)	0.350
TUBB4B	TUBA1B	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
rev	KIF21B	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350
KRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
TRAF3IP1	KIF21B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (60): BTD (Affinity Capture-MS), CAPG (Affinity Capture-MS), COL4A5 (Affinity Capture-MS), CSTF2 (Affinity Capture-MS), TAF5 (Affinity Capture-MS), TAF12 (Affinity Capture-MS), TBX3 (Affinity Capture-MS), BAG6 (Affinity Capture-MS), UBL4A (Affinity Capture-MS), FUBP3 (Affinity Capture-MS), SYNCRIP (Affinity Capture-MS), NUDT21 (Affinity Capture-MS), KIF21B (Affinity Capture-MS), KIF21B (Affinity Capture-MS), KIF21B (Affinity Capture-MS)

ESM2 similar proteins: A0A068FIK2, B3H6Z8, B9F2Y7, B9F7C8, B9FAF3, B9FL70, B9FS33, B9FTR1, B9G8P1, B9GE13, F1M5N7, F4HZF0, F4IAR2, F4IBQ9, F4IGL2, F4IL57, F4J1U4, F4J2M6, F4JUI9, F4JX00, F4K0J3, O75037, O81635, Q0E2L3, Q0IMS9, Q27IK6, Q2QM62, Q58G59, Q5JKW1, Q6H638, Q6YUL8, Q75LL2, Q7M6Z4, Q7XKR9, Q7Z4S6, Q86VH2, Q8GS71, Q8LNZ2, Q8S905, Q8S949

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

2 interactions.

A	Effect	B	Mechanism
KIF21B	up-regulates	“Plus-end directed sliding movement”
TRIM31	“up-regulates activity”	KIF21B	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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
Translocation of SLC2A4 (GLUT4) to the plasma membrane	6	37.0×	1e-06
Apoptosis	5	33.6×	1e-05
Programmed Cell Death	5	29.3×	2e-05
RHO GTPase Effectors	6	16.3×	3e-05
Transcriptional Regulation by TP53	5	12.4×	5e-04
Cell Cycle	7	10.1×	8e-05
Signaling by Rho GTPases	7	9.6×	1e-04
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	7	9.4×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	286
Likely benign	19
Benign	12

Top pathogenic / likely-pathogenic (0)

SpliceAI

5262 predictions. Top by Δscore:

Variant	Effect	Δscore
1:200974909:ATTTG:A	acceptor_gain	1.0000
1:200974910:TTTG:T	acceptor_gain	1.0000
1:200974911:TTG:T	acceptor_gain	1.0000
1:200974912:TG:T	acceptor_gain	1.0000
1:200974913:GCTG:G	acceptor_loss	1.0000
1:200974914:C:CC	acceptor_gain	1.0000
1:200974914:C:CG	acceptor_loss	1.0000
1:200975494:CCCAC:C	donor_loss	1.0000
1:200975497:A:AT	donor_loss	1.0000
1:200975531:T:TA	donor_gain	1.0000
1:200975667:CAT:C	acceptor_gain	1.0000
1:200975668:AT:A	acceptor_gain	1.0000
1:200975669:TCTGT:T	acceptor_loss	1.0000
1:200975670:C:CC	acceptor_gain	1.0000
1:200975671:T:A	acceptor_loss	1.0000
1:200976766:G:C	donor_gain	1.0000
1:200976771:GGTA:G	donor_loss	1.0000
1:200976772:GTAC:G	donor_loss	1.0000
1:200976774:A:T	donor_loss	1.0000
1:200976777:TTA:T	donor_gain	1.0000
1:200976780:A:C	donor_gain	1.0000
1:200976889:GGAAC:G	acceptor_gain	1.0000
1:200976890:GAAC:G	acceptor_gain	1.0000
1:200976894:C:CA	acceptor_loss	1.0000
1:200976894:C:CC	acceptor_gain	1.0000
1:200977209:GAC:G	donor_loss	1.0000
1:200977211:C:CT	donor_loss	1.0000
1:200977211:CCTG:C	donor_gain	1.0000
1:200977372:AGGAC:A	acceptor_gain	1.0000
1:200977373:GGAC:G	acceptor_gain	1.0000

AlphaMissense

10645 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:200974814:A:G	W1572R	1.000
1:200974814:A:T	W1572R	1.000
1:200974842:G:C	S1562R	1.000
1:200974842:G:T	S1562R	1.000
1:200974844:T:G	S1562R	1.000
1:200974889:A:G	W1547R	1.000
1:200974889:A:T	W1547R	1.000
1:200975526:C:A	W1529C	1.000
1:200975526:C:G	W1529C	1.000
1:200975528:A:G	W1529R	1.000
1:200975528:A:T	W1529R	1.000
1:200975532:C:A	K1527N	1.000
1:200975532:C:G	K1527N	1.000
1:200975545:T:A	D1523V	1.000
1:200975545:T:G	D1523A	1.000
1:200975546:C:G	D1523H	1.000
1:200975556:A:C	S1519R	1.000
1:200975556:A:T	S1519R	1.000
1:200975558:T:G	S1519R	1.000
1:200979575:A:G	W1374R	1.000
1:200979575:A:T	W1374R	1.000
1:200979696:C:A	W1333C	1.000
1:200979696:C:G	W1333C	1.000
1:200979698:A:G	W1333R	1.000
1:200979698:A:T	W1333R	1.000
1:200980969:C:A	G1324W	1.000
1:200989973:A:G	L1034P	1.000
1:200989976:A:G	L1033P	1.000
1:200989986:C:G	A1030P	1.000
1:200996302:A:G	L724P	1.000

dbSNP variants (sampled 300 via entrez): RS1000097253 (1:200983668 G>A,C), RS1000147975 (1:200983378 A>G), RS1000153475 (1:200986660 T>C), RS1000170316 (1:201004241 C>T), RS1000202143 (1:200990321 C>A,T), RS1000228645 (1:201013834 G>A), RS1000248196 (1:200984721 G>C,T), RS1000352682 (1:200997992 T>C), RS1000398730 (1:200977140 C>A,T), RS1000504485 (1:201002374 C>A,T), RS1000640341 (1:201002090 T>C), RS1000723449 (1:201008646 C>G,T), RS1000854807 (1:201015148 G>T), RS1000886979 (1:200997698 C>T), RS1000887019 (1:200973984 G>A)

Disease associations

OMIM: gene MIM:608322 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant

Mondo (4): brain ischemia (MONDO:0005299), neurodevelopmental disorder (MONDO:0700092), long QT syndrome (MONDO:0002442), syndromic intellectual disability (MONDO:0000508)

Orphanet (1): Rare genetic syndromic intellectual disability (Orphanet:183763)

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000527_11	Ulcerative colitis	1.000000e-06
GCST000624_9	Ulcerative colitis	2.000000e-07
GCST000879_25	Crohn’s disease	2.000000e-07
GCST001149_9	Ankylosing spondylitis	5.000000e-12
GCST001198_6	Multiple sclerosis	2.000000e-09
GCST001725_39	Inflammatory bowel disease	1.000000e-32
GCST002548_8	Ulcerative colitis	5.000000e-06
GCST004131_38	Inflammatory bowel disease	1.000000e-21
GCST004132_68	Crohn’s disease	1.000000e-10
GCST004133_18	Ulcerative colitis	4.000000e-16
GCST005529_17	Ankylosing spondylitis	7.000000e-16
GCST005529_35	Ankylosing spondylitis	2.000000e-15
GCST007362_4	Acute anterior uveitis (with or without ankylosing spondylitis)	2.000000e-07
GCST010002_373	Refractive error	1.000000e-52
GCST010697_41	Cortical surface area (min-P)	2.000000e-21
GCST010698_48	Subcortical volume (min-P)	4.000000e-11
GCST010699_65	Brain morphology (min-P)	2.000000e-23
GCST010700_61	Cortical thickness (MOSTest)	2.000000e-09
GCST010701_90	Cortical surface area (MOSTest)	4.000000e-14
GCST010702_100	Subcortical volume (MOSTest)	2.000000e-08
GCST010703_156	Brain morphology (MOSTest)	3.000000e-09
GCST012190_4	Body mass index and diastolic blood pressure (bivariate analysis)	8.000000e-06
GCST012191_4	Body mass index and systolic blood pressure (bivariate analysis)	3.000000e-07

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004340	body mass index
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002545	Brain Ischemia	C10.228.140.300.150; C14.907.253.092
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Valproic Acid	decreases expression, increases expression	3
sodium arsenite	decreases expression, increases expression	2
Arsenic Trioxide	increases expression	2
Estradiol	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol A	affects methylation	1
trichostatin A	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
ochratoxin A	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Hexachlorocyclohexane	increases expression	1
Cisplatin	increases expression	1
Cyclophosphamide	decreases expression	1
Doxorubicin	affects expression	1
Nickel	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00120588	PHASE4	COMPLETED	Neuroprotection by Magnesium Sulfate Given to Women at Risk of Very Preterm Birth
NCT00161070	PHASE4	COMPLETED	ESPRIT: European/Australasian Stroke Prevention in Reversible Ischaemia Trial
NCT01013532	PHASE4	UNKNOWN	PreventIon of CArdiovascular Events in iSchemic Stroke Patients With High Risk of Cerebral HemOrrhage
NCT01104311	PHASE4	TERMINATED	Strategy for Adequate Blood Pressure Lowering in the Patients With Intracranial Atherosclerosis
NCT02483169	PHASE4	UNKNOWN	PreventIon of IMT Progression in iSchemic Stroke Patients With High Risk of Cerebral HemOrrhage-IMT Study
NCT04386525	PHASE4	UNKNOWN	Omega 3 and Ischemic Stroke; Fish Oil as an Option
NCT05068349	PHASE4	UNKNOWN	For Patients With Ischemic Stroke, Clinically Study the Effectiveness and Safety of Butylphthalide.
NCT06081283	PHASE4	TERMINATED	Antiseizure Medication in Seizure Networks at Early Acute Brain Injury
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00073372	PHASE3	TERMINATED	A Study of Effectiveness and Safety of Abciximab in Patients With Acute Ischemic Stroke (AbESTT-II)
NCT00147316	PHASE3	COMPLETED	Japan Alteplase Clinical Trial (J-ACT): Efficacy and Safety Study of Tissue Plasminogen Activator (Alteplase) for Ischemic Stroke
NCT05131295	PHASE3	COMPLETED	Dapsone Use in Patients With Aneurysmal Subarachnoid Hemorrhage.
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00190047	PHASE2	COMPLETED	Effects Of DP-b99 On Neurological Function In Subjects With Acute Ischemic Hemispheric Stroke
NCT00987922	PHASE2	COMPLETED	Mild Hypothermia in Acute Ischemic Stroke
NCT01059149	PHASE2	TERMINATED	Safety and Long-term Effectiveness of High Frequency Repetitive Transcranial Magnetic Stimulation of Stroke (RAICup)
NCT01845441	PHASE2	TERMINATED	Use of Dexmedetomidine in Acute Stroke and Cerebral Vasospasm Interventions
NCT02101606	PHASE2	COMPLETED	Penumbral Based Novel Thrombolytic Therapy in Acute Ischemic Stroke
NCT03448159	PHASE2	COMPLETED	Fluoxetine Opens Window to Improve Motor Recovery After Stroke
NCT03684564	PHASE2	COMPLETED	RIvaroxaban for Stroke Patients With AntiPhospholipid Syndrome
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01438593	PHASE1	UNKNOWN	Study of Purified Umbilical Cord Blood CD34+ Stem Cell on Chronic Ischemic Stroke
NCT01556802	PHASE1	UNKNOWN	Use of Minocicline in Patients With Stroke
NCT01673932	PHASE1	UNKNOWN	Safety and Feasibility Study of Umbilical Cord Blood Mononuclear Cells Transplant to Treat Ischemic Stroke
NCT01749358	PHASE1	COMPLETED	Dose Optimization for Stroke Evaluation
NCT02618031	PHASE1	COMPLETED	The Capillary Index Score Trial
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders