KIF13A

Summary

KIF13A (kinesin family member 13A, HGNC:14566) is a protein-coding gene on chromosome 6p22.3, encoding Kinesin-like protein KIF13A (Q9H1H9). Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis.

This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 63971 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 294 total
• MANE Select transcript: NM_022113

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14566
Approved symbol	KIF13A
Name	kinesin family member 13A
Location	6p22.3
Locus type	gene with protein product
Status	Approved
Aliases	bA500C11.2, RBKIN
Ensembl gene	ENSG00000137177
Ensembl biotype	protein_coding
OMIM	605433
Entrez	63971

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000259711, ENST00000358380, ENST00000378814, ENST00000378826, ENST00000378843, ENST00000502297, ENST00000502704, ENST00000503342, ENST00000505588, ENST00000506044, ENST00000507576, ENST00000514714, ENST00000636847

RefSeq mRNA: 5 — MANE Select: NM_022113 NM_001105566, NM_001105567, NM_001105568, NM_001243423, NM_022113

CCDS: CCDS47380, CCDS47381, CCDS54967, CCDS54968, CCDS58998

Canonical transcript exons

ENST00000259711 — 39 exons

Exon	Start	End
ENSE00000688384	17781177	17781301
ENSE00000688386	17783646	17783701
ENSE00000688395	17799952	17800113
ENSE00000688397	17804361	17804510
ENSE00000688402	17808768	17808930
ENSE00000848114	17805475	17805615
ENSE00000848115	17799266	17799439
ENSE00000848116	17796669	17796820
ENSE00000848118	17789872	17789910
ENSE00000848120	17785515	17785641
ENSE00000848127	17771114	17771218
ENSE00001605511	17849377	17849489
ENSE00001612458	17773478	17773583
ENSE00001617268	17828240	17828370
ENSE00001632012	17779592	17779684
ENSE00001636977	17775015	17775062
ENSE00001642812	17771908	17772059
ENSE00001644577	17825768	17825934
ENSE00001647067	17855437	17855617
ENSE00001653446	17837472	17837583
ENSE00001659453	17836878	17837090
ENSE00001660748	17778947	17779099
ENSE00001662971	17777277	17777354
ENSE00001707152	17826038	17826124
ENSE00001723834	17780730	17780906
ENSE00001767242	17817020	17817233
ENSE00001777955	17850323	17850457
ENSE00001778182	17833961	17834071
ENSE00001801140	17831101	17831235
ENSE00001801941	17851955	17852042
ENSE00002047091	17987409	17987635
ENSE00002065749	17763693	17764946
ENSE00003459459	17794572	17794704
ENSE00003493417	17898168	17898180
ENSE00003493956	17856030	17856122
ENSE00003540434	17794249	17794395
ENSE00003556765	17987054	17987144
ENSE00003598138	17873377	17873437
ENSE00003608371	17787776	17787875

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 98.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.8499 / max 416.4947, expressed in 1747 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72013	21.4820	1729
72015	2.0073	972
72014	1.3605	864

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	98.53	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.28	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	98.11	gold quality
biceps brachii	UBERON:0001507	98.02	gold quality
saphenous vein	UBERON:0007318	97.58	gold quality
medial globus pallidus	UBERON:0002477	96.44	gold quality
body of tongue	UBERON:0011876	96.18	gold quality
tendon	UBERON:0000043	96.17	gold quality
heart right ventricle	UBERON:0002080	95.85	gold quality
jejunum	UBERON:0002115	95.23	gold quality
globus pallidus	UBERON:0001875	95.12	gold quality
synovial joint	UBERON:0002217	95.03	gold quality
nipple	UBERON:0002030	95.01	gold quality
corpus callosum	UBERON:0002336	94.96	gold quality
right coronary artery	UBERON:0001625	94.82	gold quality
vena cava	UBERON:0004087	94.76	gold quality
mammary duct	UBERON:0001765	94.72	gold quality
parietal pleura	UBERON:0002400	94.59	gold quality
jejunal mucosa	UBERON:0000399	94.54	gold quality
calcaneal tendon	UBERON:0003701	94.54	gold quality
urethra	UBERON:0000057	94.42	gold quality
visceral pleura	UBERON:0002401	94.42	gold quality
pigmented layer of retina	UBERON:0001782	94.19	gold quality
inferior vagus X ganglion	UBERON:0005363	94.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.91	gold quality
germinal epithelium of ovary	UBERON:0001304	93.84	gold quality
decidua	UBERON:0002450	93.77	gold quality
muscle of leg	UBERON:0001383	93.62	gold quality
skin of hip	UBERON:0001554	93.61	gold quality
pleura	UBERON:0000977	93.59	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	58.01
E-HCAD-25	yes	18.55
E-CURD-119	yes	12.00
E-ANND-3	yes	7.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting KIF13A, 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-450A-1-3P	100.00	69.33	1837
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-5007-3P	99.51	68.14	1242
HSA-MIR-143-5P	98.98	68.87	946
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-218-2-3P	98.08	67.21	601
HSA-MIR-3663-5P	97.01	64.84	713
HSA-MIR-582-3P	96.69	67.38	1019
HSA-MIR-5186	94.63	66.76	627

Literature-anchored findings (GeneRIF, showing 14)

• Functionally characterizes the homologous mouse protein. (PMID:11106728)
• show that the clathrin adaptor AP-1 and the kinesin motor KIF13A together create peripheral recycling endosomal subdomains in melanocytes required for cargo delivery to maturing melanosomes. (PMID:19841138)
• PtdIns(3)P production is essential for proper cytokinesis. PtdIns(3)P-binding centrosomal protein FYVE-CENT and TTC19 control cytokinesis through their translocation from the centrosome to the midbody mediated by the kinesin protein KIF13A. (PMID:20208530)
• the kinesin-13 MCAK has an unconventional ATPase cycle adapted for microtubule depolymerization (PMID:21873978)
• KIF13A interacts and cooperates with RAB11 to generate endosomal tubules. (PMID:24462287)
• kjh kiiou ouiy 8yt 8iy 7i9y (PMID:24859087)
• that KIF13A plays an important role in the transport of influenza A viral ribonucleoproteins (PMID:29061883)
• the crystal structure of a catalytically active kinesin-13 monomer (Kif2A) in complex with two bent alphabeta-tubulin heterodimers in a head-to-tail array, providing a view of these interactions, is reported. (PMID:29980677)
• KIF13A-mediated endosomal trafficking modulates RhoB plasma membrane localization to control membrane blebbing and blebby amoeboid migration. (PMID:30049714)
• Identification of novel splicing patterns and differential gene expression in RE+/FECD- samples provides new insights and more relevant gene targets that may be protective against FECD disease in vulnerable patients with TCF4 CTG TNR expansions. (PMID:31469403)
• Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome. (PMID:33526817)
• Coordination of two kinesin superfamily motor proteins, KIF3A and KIF13A, is essential for pericellular matrix degradation by membrane-type 1 matrix metalloproteinase (MT1-MMP) in cancer cells. (PMID:35122963)
• Fibronectin 1 derived from tumor-associated macrophages and fibroblasts promotes metastasis through the JUN pathway in hepatocellular carcinoma. (PMID:36461607)
• MARK2 phosphorylates KIF13A at a 14-3-3 binding site to polarize vesicular transport of transferrin receptor within dendrites. (PMID:38709923)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif13a	ENSDARG00000069594
mus_musculus	Kif13a	ENSMUSG00000021375
rattus_norvegicus	Kif13a	ENSRNOG00000001455

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), 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 KIF13A — Q9H1H9 (reviewed: Q9H1H9)

Alternative names: Kinesin-like protein RBKIN

All UniProt accessions (5): A0A1B0GUA8, Q9H1H9, H0Y307, H0Y925, H0Y9Z7

UniProt curated annotations — full annotation on UniProt →

Function. Plus end-directed microtubule-dependent motor protein involved in intracellular transport and regulating various processes such as mannose-6-phosphate receptor (M6PR) transport to the plasma membrane, endosomal sorting during melanosome biogenesis and cytokinesis. Mediates the transport of M6PR-containing vesicles from trans-Golgi network to the plasma membrane via direct interaction with the AP-1 complex. During melanosome maturation, required for delivering melanogenic enzymes from recycling endosomes to nascent melanosomes by creating peripheral recycling endosomal subdomains in melanocytes. Also required for the abscission step in cytokinesis: mediates translocation of ZFYVE26, and possibly TTC19, to the midbody during cytokinesis.

Subunit / interactions. Interacts with AP2B1. Interacts with ZFYVE26. Interacts with AP1G1 and AP1G2.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Midbody. Endosome membrane. Golgi apparatus membrane.

Tissue specificity. Widely expressed, with highest levels in heart, brain and skeletal muscle.

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

Isoforms (5)

UniProt ID	Names	Canonical?
Q9H1H9-1	1, RBKIN1	yes
Q9H1H9-2	2, RBKIN2
Q9H1H9-3	3
Q9H1H9-4	4
Q9H1H9-5	5

RefSeq proteins (5): NP_001099036, NP_001099037, NP_001099038, NP_001230352, NP_071396* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000253	FHA_dom	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
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00225, PF00498, PF12423, PF12473, PF16183

UniProt features (42 total): modified residue 11, splice variant 6, region of interest 6, compositionally biased region 5, coiled-coil region 4, sequence conflict 4, domain 2, sequence variant 2, chain 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H1H9-F1	66.06	0.20

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): 102–109

Post-translational modifications (11): 636, 1287, 1454, 1490, 1529, 1572, 1648, 1698, 1494, 1481, 1481

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-390471	Association of TriC/CCT with target proteins during biosynthesis
R-HSA-390466	Chaperonin-mediated protein folding
R-HSA-391251	Protein folding
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 291 (showing top): GOBP_LYSOSOMAL_TRANSPORT, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOCC_KINESIN_COMPLEX, GOBP_CELLULAR_PIGMENTATION, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_PIGMENTATION, IRF7_01, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT

GO Biological Process (11): intracellular protein transport (GO:0006886), microtubule-based movement (GO:0007018), endosome to lysosome transport (GO:0008333), melanosome organization (GO:0032438), regulation of cytokinesis (GO:0032465), vesicle cargo loading (GO:0035459), Golgi to plasma membrane protein transport (GO:0043001), cell division (GO:0051301), plus-end-directed vesicle transport along microtubule (GO:0072383), protein transport (GO:0015031), establishment of protein localization (GO:0045184)

GO Molecular Function (7): microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), protein binding (GO:0005515)

GO Cellular Component (12): Golgi membrane (GO:0000139), cytoplasm (GO:0005737), centrosome (GO:0005813), kinesin complex (GO:0005871), microtubule (GO:0005874), endosome membrane (GO:0010008), midbody (GO:0030496), trans-Golgi network membrane (GO:0032588), endosome (GO:0005768), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Chaperonin-mediated protein folding	1
Protein folding	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular protein localization	2
protein transport	2
vesicle-mediated transport	2
transport	2
ATP-dependent activity	2
bounding membrane of organelle	2
endomembrane system	2
intracellular transport	1
microtubule-based process	1
lysosomal transport	1
intercellular transport	1
pigment granule organization	1
cytokinesis	1
regulation of cell cycle process	1
regulation of cell division	1
Golgi to plasma membrane transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
cellular process	1
vesicle transport along microtubule	1
plus-end-directed organelle transport along microtubule	1
establishment of protein localization	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
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
binding	1
Golgi apparatus	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
microtubule associated complex	1
microtubule cytoskeleton	1

Protein interactions and networks

STRING

1034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF13A	AP1B1	P78436	925
KIF13A	RAB11A	P24410	760
KIF13A	STMND1	H3BQB6	646
KIF13A	TFRC	P02786	611
KIF13A	RAB5A	P20339	572
KIF13A	RAB32	Q13637	529
KIF13A	DHX57	Q6P158	500
KIF13A	NUP153	P49790	493
KIF13A	NHLRC1	Q6VVB1	479
KIF13A	RBFOX2	O43251	478
KIF13A	RAB38	P57729	465
KIF13A	KIAA0513	O60268	449
KIF13A	ZFYVE26	Q68DK2	439
KIF13A	TTC19	Q6DKK2	428
KIF13A	SMG7	Q92540	428

IntAct

31 interactions, top by confidence:

A	B	Type	Score
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
DNAAF6	KIF13A	psi-mi:“MI:0915”(physical association)	0.560
KIF13A	DNAAF6	psi-mi:“MI:0915”(physical association)	0.560
KIFBP	KIF3C	psi-mi:“MI:0914”(association)	0.530
ASB7	POLR3A	psi-mi:“MI:0914”(association)	0.530
KIF13A	ADAP1	psi-mi:“MI:0407”(direct interaction)	0.440
GRB2	KIF13A	psi-mi:“MI:0915”(physical association)	0.400
KIF13A	NCK1	psi-mi:“MI:0915”(physical association)	0.400
KIF13A	PIK3R1	psi-mi:“MI:0915”(physical association)	0.400
KIF13A	Zfyve26	psi-mi:“MI:0915”(physical association)	0.400
ATF7IP	KIF13A	psi-mi:“MI:0915”(physical association)	0.370
HUWE1	NCOA4	psi-mi:“MI:0914”(association)	0.350
AP2M1	C1orf226	psi-mi:“MI:0914”(association)	0.350
AP1S3	AP1G1	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
KIFBP	STK25	psi-mi:“MI:0914”(association)	0.350
AP1M2	AP1G1	psi-mi:“MI:0914”(association)	0.350
AP2M1	PER1	psi-mi:“MI:0914”(association)	0.350
	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270
SFN	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	E2F8	psi-mi:“MI:2364”(proximity)	0.270
AGGF1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
RPS11	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
SBDS	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
YWHAG	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
DISC1	KIF13A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (50): PIH1D3 (Two-hybrid), KIF13A (Affinity Capture-MS), KIF13A (Affinity Capture-MS), KIF13A (Affinity Capture-MS), KIF13A (Affinity Capture-MS), KIF13A (Affinity Capture-MS), KIF13A (Affinity Capture-RNA), KIF13A (Affinity Capture-RNA), KIF13A (Affinity Capture-RNA), KIF13A (Two-hybrid), KIF13A (Affinity Capture-MS), KIF13A (Affinity Capture-MS), KIF13A (Two-hybrid), KIF13A (Proximity Label-MS), KIF13A (Proximity Label-MS)

ESM2 similar proteins: A0A3B6UES5, A0A3G2LGI8, F4HXZ1, G5EES6, O14134, O43150, O46037, O74749, O97592, P05095, P0CE94, P0CE95, P11532, P11533, P12003, P18206, P19826, P26039, P26234, P27619, P30427, P33338, P39055, P54939, P85972, P90947, Q02328, Q03001, Q04615, Q0WNJ6, Q17162, Q2QYW2, Q54K81, Q54MH2, Q5GN48, Q64727, Q71LX4, Q7SIG6, Q7XPJ0, Q8LPK4

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

4 interactions.

A	Effect	B	Mechanism
BLOC-2	“up-regulates activity”	KIF13A	binding
KIF13A	up-regulates	“Early Endosome”	relocalization
KIF13A	“up-regulates activity”	ZFYVE26	binding
KIF13A	“up-regulates activity”	TTC19	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
MHC class II antigen presentation	5	15.9×	3e-04
SARS-CoV Infections	5	9.9×	1e-03
Membrane Trafficking	7	9.3×	2e-04
Viral Infection Pathways	8	8.8×	1e-04
Vesicle-mediated transport	7	8.7×	3e-04
Adaptive Immune System	7	7.5×	5e-04
Infectious disease	8	7.1×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	217
Likely benign	8
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

5738 predictions. Top by Δscore:

Variant	Effect	Δscore
6:17771112:A:AC	donor_gain	1.0000
6:17771113:C:CC	donor_gain	1.0000
6:17771113:CAAT:C	donor_gain	1.0000
6:17771215:TGCT:T	acceptor_gain	1.0000
6:17771906:ACCT:A	donor_gain	1.0000
6:17771907:CCTC:C	donor_gain	1.0000
6:17771909:T:TA	donor_gain	1.0000
6:17773582:CCCTA:C	acceptor_loss	1.0000
6:17773585:T:A	acceptor_loss	1.0000
6:17775010:CATA:C	donor_loss	1.0000
6:17775011:ATACC:A	donor_loss	1.0000
6:17775012:TAC:T	donor_loss	1.0000
6:17775060:GACC:G	acceptor_loss	1.0000
6:17775062:CCTA:C	acceptor_loss	1.0000
6:17775063:C:CC	acceptor_gain	1.0000
6:17777271:ACTT:A	donor_loss	1.0000
6:17777272:CTTA:C	donor_loss	1.0000
6:17777273:TTA:T	donor_loss	1.0000
6:17777274:TAC:T	donor_loss	1.0000
6:17777275:A:AC	donor_gain	1.0000
6:17777275:AC:A	donor_loss	1.0000
6:17777276:C:CA	donor_gain	1.0000
6:17777276:CA:C	donor_gain	1.0000
6:17777276:CAT:C	donor_gain	1.0000
6:17777276:CATT:C	donor_gain	1.0000
6:17777276:CATTA:C	donor_gain	1.0000
6:17777351:CGGC:C	acceptor_gain	1.0000
6:17777352:GGCC:G	acceptor_loss	1.0000
6:17777353:GCCT:G	acceptor_loss	1.0000
6:17777354:CCTG:C	acceptor_loss	1.0000

AlphaMissense

11909 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:17780888:A:G	W1230R	1.000
6:17780888:A:T	W1230R	1.000
6:17826056:C:A	G534V	1.000
6:17826056:C:T	G534E	1.000
6:17826057:C:G	G534R	1.000
6:17826057:C:T	G534R	1.000
6:17826060:A:G	W533R	1.000
6:17826060:A:T	W533R	1.000
6:17826062:A:G	L532P	1.000
6:17826068:C:G	R530P	1.000
6:17831120:A:G	L461P	1.000
6:17831129:A:G	L458P	1.000
6:17831147:A:G	L452P	1.000
6:17831149:A:C	N451K	1.000
6:17831149:A:T	N451K	1.000
6:17836891:A:G	L381P	1.000
6:17836903:A:G	L377P	1.000
6:17836924:A:G	L370P	1.000
6:17836987:G:T	A349D	1.000
6:17836990:C:G	R348P	1.000
6:17836997:C:G	A346P	1.000
6:17837000:A:C	Y345D	1.000
6:17837000:A:G	Y345H	1.000
6:17837005:A:G	L343S	1.000
6:17837014:A:G	L340P	1.000
6:17837043:G:C	S330R	1.000
6:17837043:G:T	S330R	1.000
6:17837045:T:G	S330R	1.000
6:17837053:G:T	A327D	1.000
6:17837476:A:G	L313P	1.000

dbSNP variants (sampled 300 via entrez): RS1000007476 (6:17956895 T>C), RS1000009911 (6:17852079 C>A,T), RS1000017271 (6:17763601 C>A,T), RS1000025471 (6:17977838 G>A), RS1000045298 (6:17933124 T>C), RS1000096023 (6:17800842 A>C), RS1000103454 (6:17761522 T>C), RS1000113603 (6:17761718 C>T), RS1000117018 (6:17963005 A>G), RS1000117945 (6:17921164 T>C), RS1000131198 (6:17822534 T>C), RS1000142207 (6:17874002 A>C,G), RS1000155463 (6:17845561 C>A), RS1000171677 (6:17795402 G>A,C), RS1000179872 (6:17791069 T>C)

Disease associations

OMIM: gene MIM:605433 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): Chiari malformation (MONDO:0000115), apraxia (MONDO:0000665)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000175_15	Height	7.000000e-07
GCST005287_3	Intrinsic epigenetic age acceleration	4.000000e-25
GCST005287_4	Intrinsic epigenetic age acceleration	2.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0000473	epigenetic status
EFO:0022597	aging

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D001072	Apraxias	C10.597.606.881.350; C23.888.592.604.882.350; F01.700.875.350
D001139	Arnold-Chiari Malformation	C10.500.680.291; C16.131.666.680.291

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
trichostatin A	affects cotreatment, decreases expression	3
Vorinostat	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases oxidation, affects expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance, affects expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
methylparaben	decreases expression	1
sulforaphane	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
methacrylaldehyde	decreases expression, increases oxidation, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
bazedoxifene	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
thifluzamide	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
picoxystrobin	decreases 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_A6ZZ	HeLa M KIF13A-KO	Cancer cell line	Female
CVCL_A7AB	HeLa M KIF13A/B-DKO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00741858	PHASE3	COMPLETED	Duragen Versus Duraguard in Chiari Surgery
NCT02532322	PHASE2	WITHDRAWN	Efficacy of Acetaminophen in Posterior Fossa Surgery
NCT00795080	Not specified	ENROLLING_BY_INVITATION	Dynamic MRI and Quantitative MR CSF Flow Studies in Craniovertebral Junction Anomalies
NCT01667770	Not specified	COMPLETED	Dural Graft Equivalent Comparison Trial
NCT03074747	Not specified	UNKNOWN	Comparison of Four Questionnaires for OSA Screening in China
NCT03856034	Not specified	RECRUITING	Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele
NCT04073667	Not specified	UNKNOWN	Investigation of the Effects of Exercise Program in Patients With Chiari Type 1 Malformation
NCT04089670	Not specified	COMPLETED	Online Acceptance and Commitment Therapy for Chronic Pain in Sample of People With Chiari Malformation
NCT04189172	Not specified	ACTIVE_NOT_RECRUITING	MiDura-Study (Neuro-Patch in Duraplasty)
NCT05581472	Not specified	UNKNOWN	Examining Different Components of Online Acceptance and Commitment Therapy for People With Chiari Malformation
NCT05754554	Not specified	COMPLETED	Clinical Study of the Treatment of Chiari Malformation Combined With Type II Skull Base Depression
NCT06011226	Not specified	NOT_YET_RECRUITING	Development of a Patient-reported Outcome Measure for Chiari Malformation and Syringomyelia
NCT06036732	Not specified	UNKNOWN	A New Approach in Intensive Care Unit Consciousness Assessment: FIVE Score
NCT01046760	Not specified	UNKNOWN	Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy
NCT01507636	Not specified	COMPLETED	Occupational Therapy in Patients With Multiple Sclerosis
NCT02199093	Not specified	COMPLETED	Functional Rehabilitation of Upper Limb Apraxia in Patients Poststroke
NCT02517333	Not specified	UNKNOWN	Exploring the Impact and Feasibility of a Pathway to Sport and Long-term Participation in Young People
NCT03185234	Not specified	COMPLETED	Rehabilitating (Stroke-induced) Apraxia With Direct Current Stimulation
NCT03353623	Not specified	COMPLETED	Immersive Virtual Environments and Wearable Haptic Devices in Rehabilitation of Children With Neuromotor Impairments
NCT04044911	Not specified	COMPLETED	Trial Using CogWatch for Tea Making Training in Stroke Apraxia and Action Disorganisation Syndrome
NCT04122820	Not specified	UNKNOWN	Ambulatory Screening for Specific Learning Disabilities (SLD) and Developmental Coordination Disorder (DCD).