KIF13B

Summary

KIF13B (kinesin family member 13B, HGNC:14405) is a protein-coding gene on chromosome 8p12, encoding Kinesin-like protein KIF13B (Q9NQT8). Involved in reorganization of the cortical cytoskeleton.

Enables 14-3-3 protein binding activity and protein kinase binding activity. Involved in regulation of axonogenesis. Located in axon and cytoplasm.

Source: NCBI Gene 23303 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 321 total
• MANE Select transcript: NM_015254

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14405
Approved symbol	KIF13B
Name	kinesin family member 13B
Location	8p12
Locus type	gene with protein product
Status	Approved
Aliases	GAKIN, KIAA0639
Ensembl gene	ENSG00000197892
Ensembl biotype	protein_coding
OMIM	607350
Entrez	23303

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000521515, ENST00000522355, ENST00000522846, ENST00000523130, ENST00000523968, ENST00000524189

RefSeq mRNA: 1 — MANE Select: NM_015254 NM_015254

CCDS: CCDS55217

Canonical transcript exons

ENST00000524189 — 40 exons

Exon	Start	End
ENSE00000686778	29075281	29075343
ENSE00001286429	29071620	29072316
ENSE00001286713	29067278	29070766
ENSE00001611905	29113463	29113555
ENSE00001619543	29134040	29134210
ENSE00001643029	29116831	29117007
ENSE00001649155	29118868	29118992
ENSE00001653939	29109434	29109511
ENSE00001669055	29122591	29122646
ENSE00001669436	29140468	29140617
ENSE00001690574	29108139	29108192
ENSE00001696496	29109918	29110070
ENSE00001708106	29146378	29146540
ENSE00001714073	29140063	29140191
ENSE00001729051	29124024	29124123
ENSE00001733507	29126482	29126511
ENSE00001741496	29130533	29130665
ENSE00001750043	29127122	29127268
ENSE00001775089	29123366	29123492
ENSE00001781330	29099133	29099241
ENSE00001796946	29142157	29142303
ENSE00001799539	29132308	29132465
ENSE00002136682	29262980	29263070
ENSE00003458257	29147392	29147602
ENSE00003486598	29196187	29196199
ENSE00003497475	29177466	29177578
ENSE00003501123	29245346	29245439
ENSE00003508811	29167373	29167585
ENSE00003529919	29150297	29150383
ENSE00003534767	29188515	29188607
ENSE00003544090	29176068	29176179
ENSE00003573876	29186292	29186472
ENSE00003591909	29092745	29092878
ENSE00003602298	29160733	29160867
ENSE00003627646	29181919	29182006
ENSE00003643638	29190997	29191057
ENSE00003652694	29148577	29148767
ENSE00003658723	29180104	29180238
ENSE00003668895	29165662	29165772
ENSE00003673348	29155726	29155856

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 97.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.1512 / max 507.6559, expressed in 1748 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92555	10.6122	1534
92556	6.1716	1620
92557	0.2680	122
92547	0.0995	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	97.01	gold quality
corpus callosum	UBERON:0002336	96.50	gold quality
inferior vagus X ganglion	UBERON:0005363	95.41	gold quality
medial globus pallidus	UBERON:0002477	93.67	gold quality
renal medulla	UBERON:0000362	93.24	gold quality
subthalamic nucleus	UBERON:0001906	92.71	gold quality
globus pallidus	UBERON:0001875	92.56	gold quality
ileal mucosa	UBERON:0000331	91.69	gold quality
medulla oblongata	UBERON:0001896	91.33	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.21	gold quality
sural nerve	UBERON:0015488	91.13	gold quality
spinal cord	UBERON:0002240	91.04	gold quality
dorsal root ganglion	UBERON:0000044	90.98	gold quality
ventral tegmental area	UBERON:0002691	90.65	gold quality
nasal cavity epithelium	UBERON:0005384	90.64	gold quality
adrenal tissue	UBERON:0018303	90.35	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.30	gold quality
tongue squamous epithelium	UBERON:0006919	89.96	silver quality
colonic mucosa	UBERON:0000317	89.88	gold quality
superior vestibular nucleus	UBERON:0007227	89.87	gold quality
trigeminal ganglion	UBERON:0001675	89.78	gold quality
epithelium of nasopharynx	UBERON:0001951	89.66	silver quality
dorsal plus ventral thalamus	UBERON:0001897	89.65	gold quality
palpebral conjunctiva	UBERON:0001812	89.56	gold quality
inferior olivary complex	UBERON:0002127	89.46	gold quality
epithelium of mammary gland	UBERON:0003244	89.31	gold quality
mammary duct	UBERON:0001765	89.25	gold quality
cardia of stomach	UBERON:0001162	88.92	gold quality
parotid gland	UBERON:0001831	88.92	gold quality
upper arm skin	UBERON:0004263	88.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	17.43
E-ANND-3	yes	14.88

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

132 targeting KIF13B, 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-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-10395-5P	99.86	67.35	676
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981

Literature-anchored findings (GeneRIF, showing 11)

• These results suggest that, in neurons, the GAKIN-PIP3BP complex transports PIP3 to the neurite ends and regulates neuronal polarity formation. (PMID:16864656)
• Binding of the SH3-I3-GUK module of hDlg to GAKIN activates the microtubule-stimulated ATPase activity of GAKIN by approximately 10-fold. We propose: the cargo-mediated regulation of motor activity is a general paradigm for the activation of kinesins. (PMID:17696365)
• These results reveal that GAKIN/KIF13B is a key intermediate linking Par1b to the regulation of axon formation. (PMID:20194617)
• Phosphorylation-independent dual-site binding of the FHA domain of KIF13 mediates phosphoinositide transport via centaurin alpha1. (PMID:21057110)
• KIF13B is an essential molecular motor required for the trafficking of VEGFR2 from the Golgi, and its delivery to the endothelial cell surface mediates angiogenesis. (PMID:25128562)
• lnc-KIF13B-1, a long non-coding RNA (rs6434720) is associated with corticobasal degeneration. (PMID:26077951)
• Findings show that the high-affinity binding of KIF13B to DLG guanylate kinase (GK) domain does not require phosphorylation of KIF13B and that DLG binds to an unphosphorylated and autonomously folded domain within its stalk region (MAGUK binding stalk [MBS] domain) with high specificity and affinity. (PMID:27642159)
• Study provides evidence that KIF13B and NPHP4 are both required for establishment of a specialized caveolin-1 membrane microdomain at the ciliary transition zone, which is essential for Shh-induced accumulation of SMO in the primary cilium as well as for activation of GLI-mediated target gene expression. (PMID:28134340)
• Changes in Protein Glycosylation as a Result of Aptamer Interactions with Cancer Cells. (PMID:31550741)
• Transient accumulation and bidirectional movement of KIF13B in primary cilia. (PMID:35403186)
• KIF13B mediates VEGFR2 recycling to modulate vascular permeability. (PMID:36928770)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif13bb	ENSDARG00000073859
danio_rerio	kif13ba	ENSDARG00000079731
mus_musculus	Kif13b	ENSMUSG00000060012
rattus_norvegicus	Kif13b	ENSRNOG00000013089

Paralogs (41): KIF1B (ENSG00000054523), 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), KIF4B (ENSG00000226650)

Protein

Protein identifiers

Kinesin-like protein KIF13B — Q9NQT8 (reviewed: Q9NQT8)

Alternative names: Kinesin-like protein GAKIN

All UniProt accessions (5): E5RK06, E7ERX9, Q9NQT8, F2Z2F9, H0YBA8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in reorganization of the cortical cytoskeleton. Regulates axon formation by promoting the formation of extra axons. May be functionally important for the intracellular trafficking of MAGUKs and associated protein complexes.

Subunit / interactions. Binds to DLG1 and DLG4. Interacts (when phosphorylated at Ser-1381 and Ser-1410) with 14-3-3.

Subcellular location. Cytoplasm. Cytoskeleton. Cell projection. Axon.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated at Ser-1381 and Ser-1410 by MARK2, promoting interaction with 14-3-3 and inhibiting microtubule-dependent accumulation and formation of axons.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NQT8-1	1	yes
Q9NQT8-2	2

RefSeq proteins (1): NP_056069* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000253	FHA_dom	Domain
IPR000938	CAP-Gly_domain	Domain
IPR001752	Kinesin_motor_dom	Domain
IPR008984	SMAD_FHA_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
IPR036859	CAP-Gly_dom_sf	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00225, PF00498, PF01302, PF12423, PF12473, PF16183

UniProt features (91 total): strand 31, modified residue 13, helix 12, sequence conflict 8, compositionally biased region 6, coiled-coil region 4, region of interest 4, domain 3, turn 3, splice variant 2, mutagenesis site 2, chain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
3GBJ	X-RAY DIFFRACTION	2.1
3FM8	X-RAY DIFFRACTION	2.3
3MDB	X-RAY DIFFRACTION	2.95
2COW	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQT8-F1	67.90	0.21

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): 103–110

Post-translational modifications (13): 661, 1379, 1381, 1382, 1391, 1410, 1432, 1438, 1537, 1545, 1559, 1644, 1797

Mutagenesis-validated functional residues (2):

Position	Phenotype
1381	abolishes phosphorylation by mark2; when associated with a-1410.
1410	abolishes phosphorylation by mark2; when associated with a-1389.

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: 154 (showing top): GCANCTGNY_MYOD_Q6, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GOCC_KINESIN_COMPLEX, GOBP_PROTEIN_TARGETING, GOBP_NEUROGENESIS, LUCAS_HNF4A_TARGETS_UP, REACTOME_MEMBRANE_TRAFFICKING, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_CYTOSKELETAL_MOTOR_ACTIVITY, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGACATY_UNKNOWN, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT, GOCC_NEURON_PROJECTION

GO Biological Process (6): protein targeting (GO:0006605), microtubule-based movement (GO:0007018), signal transduction (GO:0007165), T cell activation (GO:0042110), regulation of axonogenesis (GO:0050770), establishment of protein localization (GO:0045184)

GO Molecular Function (9): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), protein kinase binding (GO:0019901), 14-3-3 protein binding (GO:0071889), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), kinesin complex (GO:0005871), microtubule (GO:0005874), axon (GO:0030424), cytoskeleton (GO:0005856), 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
establishment of protein localization	1
microtubule-based process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
lymphocyte activation	1
axonogenesis	1
regulation of neuron projection development	1
regulation of anatomical structure morphogenesis	1
establishment of localization	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
kinase binding	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
intracellular anatomical structure	1
microtubule associated complex	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
neuron projection	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF13B	ADAP1	O75689	965
KIF13B	GUK1	Q16774	921
KIF13B	MPP1	Q00013	769
KIF13B	DLG1	Q12959	665
KIF13B	DLG4	P78352	639
KIF13B	TFRC	P02786	631
KIF13B	UTRN	P46939	494
KIF13B	YWHAB	P31946	488
KIF13B	TIMELESS	Q9UNS1	448
KIF13B	KCNAB2	Q13303	445
KIF13B	GCC2	Q8IWJ2	440
KIF13B	MED14	O60244	432
KIF13B	SMG1	Q96Q15	421
KIF13B	ALMS1	Q8TCU4	411
KIF13B	MARVELD1	Q9BSK0	408

IntAct

141 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ADAP1	KIF13B	psi-mi:“MI:0407”(direct interaction)	0.650
KIFBP	KIF3C	psi-mi:“MI:0914”(association)	0.530
ASB7	POLR3A	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
KIF1C	KIF1B	psi-mi:“MI:2364”(proximity)	0.480
KIF13B	DEK	psi-mi:“MI:0915”(physical association)	0.400
KIF13B	BAG2	psi-mi:“MI:0915”(physical association)	0.400
DLG1	KIF13B	psi-mi:“MI:0915”(physical association)	0.400
KIF13B	DLG1	psi-mi:“MI:0915”(physical association)	0.400
KIF13B	DLG4	psi-mi:“MI:0915”(physical association)	0.400
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MARK2	SMAP	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
CCDC85A	CIBAR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (164): KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-Western), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), CGN (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS), KIF13B (Affinity Capture-MS)

ESM2 similar proteins: A0JN40, A1ZAJ2, A8BKD1, F1M4A4, F1QN54, F4J8L3, O00139, O14782, O15066, O35066, O55165, O60333, O88658, P23678, P28740, P28741, P33173, P34540, P46867, P46871, P46873, Q12756, Q15058, Q17BU3, Q28WQ1, Q29DY1, Q2NL05, Q4R628, Q5R4H3, Q5R706, Q5R9Y9, Q5ZKV8, Q60575, Q61771, Q7PHR1, Q8LNZ2, Q8S905, Q8S950, Q91636, Q91637

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

3 interactions.

A	Effect	B	Mechanism
CDK5	“down-regulates activity”	KIF13B	phosphorylation
MARK2	“down-regulates activity”	KIF13B	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 141 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	10	67.9×	1e-14
Activation of BAD and translocation to mitochondria	7	53.8×	2e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	47.5×	4e-09
Activation of BH3-only proteins	7	35.1×	3e-08
RHO GTPases activate PKNs	9	28.8×	2e-09
Intrinsic Pathway for Apoptosis	7	20.7×	1e-06
FOXO-mediated transcription	6	20.4×	1e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	14.0×	5e-07

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	13.9×	4e-03
G2/M transition of mitotic cell cycle	5	11.8×	7e-03
negative regulation of translation	6	8.9×	7e-03
intracellular protein localization	9	7.1×	2e-03
protein phosphorylation	10	5.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	252
Likely benign	12
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

6977 predictions. Top by Δscore:

Variant	Effect	Δscore
8:29070764:TACC:T	acceptor_loss	1.0000
8:29071616:CCAC:C	donor_loss	1.0000
8:29071617:CACC:C	donor_loss	1.0000
8:29071618:A:T	donor_loss	1.0000
8:29071619:C:CG	donor_loss	1.0000
8:29092739:TTTTA:T	donor_loss	1.0000
8:29092740:TTTA:T	donor_loss	1.0000
8:29092741:TTA:T	donor_loss	1.0000
8:29092742:TA:T	donor_loss	1.0000
8:29092743:A:AG	donor_loss	1.0000
8:29092744:CC:C	donor_loss	1.0000
8:29092882:CCCA:C	acceptor_gain	1.0000
8:29092883:CCA:C	acceptor_gain	1.0000
8:29092884:C:T	acceptor_gain	1.0000
8:29092884:CA:C	acceptor_gain	1.0000
8:29092885:A:C	acceptor_gain	1.0000
8:29092887:A:C	acceptor_gain	1.0000
8:29092888:T:C	acceptor_gain	1.0000
8:29092888:T:TC	acceptor_gain	1.0000
8:29092891:C:CT	acceptor_gain	1.0000
8:29092892:A:T	acceptor_gain	1.0000
8:29099128:CTTA:C	donor_loss	1.0000
8:29099129:TTA:T	donor_loss	1.0000
8:29099130:TA:T	donor_loss	1.0000
8:29099132:C:CT	donor_loss	1.0000
8:29108134:CCTA:C	donor_loss	1.0000
8:29108135:CTAC:C	donor_loss	1.0000
8:29108136:TACC:T	donor_loss	1.0000
8:29108137:A:AC	donor_gain	1.0000
8:29108137:ACC:A	donor_loss	1.0000

AlphaMissense

11984 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:29071718:A:T	V1707D	1.000
8:29116989:A:G	W1227R	1.000
8:29116989:A:T	W1227R	1.000
8:29142240:A:G	W751R	1.000
8:29142240:A:T	W751R	1.000
8:29150316:C:G	G535R	1.000
8:29150316:C:T	G535R	1.000
8:29150319:A:G	W534R	1.000
8:29150319:A:T	W534R	1.000
8:29150326:C:A	R531S	1.000
8:29150326:C:G	R531S	1.000
8:29155813:A:G	L483P	1.000
8:29155840:C:T	G474E	1.000
8:29155841:C:A	G474W	1.000
8:29160749:A:G	L463P	1.000
8:29160752:A:G	L462P	1.000
8:29160779:A:G	L453P	1.000
8:29160781:A:C	N452K	1.000
8:29160781:A:T	N452K	1.000
8:29160788:A:G	L450P	1.000
8:29160788:A:T	L450H	1.000
8:29160836:A:G	I434T	1.000
8:29160836:A:T	I434K	1.000
8:29160851:A:G	L429P	1.000
8:29160851:A:T	L429H	1.000
8:29160863:C:G	R425P	1.000
8:29165698:C:A	W411C	1.000
8:29165698:C:G	W411C	1.000
8:29165700:A:G	W411R	1.000
8:29165700:A:T	W411R	1.000

dbSNP variants (sampled 300 via entrez): RS1000009903 (8:29092094 A>C), RS1000027562 (8:29160555 T>C), RS1000050115 (8:29179505 A>G), RS1000054540 (8:29145545 C>T), RS1000068270 (8:29211015 T>C), RS1000073496 (8:29086439 T>A,C), RS1000096029 (8:29210730 T>C), RS1000104836 (8:29101177 T>C), RS1000109726 (8:29086387 C>T), RS1000140731 (8:29086649 C>T), RS1000145402 (8:29257236 G>A), RS1000153316 (8:29131563 A>T), RS1000167493 (8:29201941 A>C), RS1000184311 (8:29161205 G>A,C), RS1000187998 (8:29194573 G>C)

Disease associations

OMIM: gene MIM:607350 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000635_16	Response to statin therapy	3.000000e-08
GCST001817_8	Metabolite levels (HVA-5-HIAA Factor score)	2.000000e-06
GCST001824_9	Metabolite levels (HVA)	3.000000e-06
GCST002119_8	Metabolite levels (X-11787)	6.000000e-06
GCST002279_32	PR interval in Tripanosoma cruzi seropositivity	5.000000e-07
GCST010204_202	Low density lipoprotein cholesterol levels	4.000000e-15
GCST010243_100	Apolipoprotein B levels	6.000000e-13
GCST010245_112	LDL cholesterol levels	7.000000e-13
GCST011957_27	Prostate cancer	5.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005131	HVA measurement
EFO:0005132	5-HIAA measurement
EFO:0005276	hydroxy-leucine measurement
EFO:0004462	PR interval
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004615	apolipoprotein B measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	3
Aflatoxin B1	affects expression, decreases expression, increases methylation	3
Valproic Acid	increases methylation, increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
trichostatin A	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
coumarin	increases phosphorylation	1
ceric oxide	increases expression	1
pentanal	decreases expression	1
exemestane	increases expression	1
entinostat	increases expression	1
bisphenol S	affects cotreatment, increases methylation	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression	1
Clozapine	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Progesterone	increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7AA	HeLa M KIF13B-KO	Cancer cell line	Female
CVCL_A7AB	HeLa M KIF13A/B-DKO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder