TUBAL3

Summary

TUBAL3 (tubulin alpha like 3, HGNC:23534) is a protein-coding gene on chromosome 10p15.1, encoding Tubulin alpha chain-like 3 (A6NHL2). Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be located in microtubule cytoskeleton. Predicted to be active in cytoplasm and microtubule.

Source: NCBI Gene 79861 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 91 total
• Druggable target: yes
• MANE Select transcript: NM_024803

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23534
Approved symbol	TUBAL3
Name	tubulin alpha like 3
Location	10p15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21665
Ensembl gene	ENSG00000178462
Ensembl biotype	protein_coding
OMIM	620835
Entrez	79861

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000380419, ENST00000479328

RefSeq mRNA: 2 — MANE Select: NM_024803 NM_001171864, NM_024803

CCDS: CCDS53491, CCDS7066

Canonical transcript exons

ENST00000380419 — 4 exons

Exon	Start	End
ENSE00001235537	5400844	5401087
ENSE00001484887	5393101	5394461
ENSE00001484895	5395327	5395475
ENSE00001824717	5404790	5404828

Expression profiles

Bgee: expression breadth ubiquitous, 121 present calls, max score 92.76.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1892 / max 51.0021, expressed in 61 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108078	0.1892	61

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	92.76	gold quality
secondary oocyte	CL:0000655	91.70	gold quality
oocyte	CL:0000023	91.37	gold quality
ileal mucosa	UBERON:0000331	91.29	gold quality
mucosa of transverse colon	UBERON:0004991	90.26	gold quality
duodenum	UBERON:0002114	87.90	gold quality
colonic mucosa	UBERON:0000317	86.15	gold quality
mucosa of sigmoid colon	UBERON:0004993	83.99	gold quality
nephron tubule	UBERON:0001231	81.08	gold quality
rectum	UBERON:0001052	80.93	gold quality
metanephric glomerulus	UBERON:0004736	76.88	silver quality
renal glomerulus	UBERON:0000074	76.86	silver quality
kidney epithelium	UBERON:0004819	76.73	silver quality
small intestine	UBERON:0002108	76.42	gold quality
small intestine Peyer’s patch	UBERON:0003454	76.01	gold quality
transverse colon	UBERON:0001157	74.88	gold quality
jejunum	UBERON:0002115	69.37	gold quality
adult mammalian kidney	UBERON:0000082	68.76	gold quality
palpebral conjunctiva	UBERON:0001812	67.88	gold quality
intestine	UBERON:0000160	67.52	gold quality
kidney	UBERON:0002113	64.89	gold quality
large intestine	UBERON:0000059	64.62	gold quality
colon	UBERON:0001155	63.94	gold quality
metanephros	UBERON:0000081	62.29	gold quality
cortex of kidney	UBERON:0001225	59.94	gold quality
parotid gland	UBERON:0001831	57.56	gold quality
pancreatic ductal cell	CL:0002079	55.63	silver quality
saliva-secreting gland	UBERON:0001044	54.06	gold quality
minor salivary gland	UBERON:0001830	54.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	53.64	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting TUBAL3, 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-4302	99.89	67.94	1187
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-122B-5P	99.46	70.81	1457
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-5094	98.63	67.11	1062
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-138-1-3P	98.25	67.89	867
HSA-MIR-1180-5P	98.16	65.32	460
HSA-MIR-124-5P	98.11	67.65	1095
HSA-MIR-876-5P	97.99	68.49	1345
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-512-5P	97.47	66.48	591
HSA-MIR-1224-3P	97.24	65.92	851
HSA-MIR-3167	96.81	67.09	1236
HSA-MIR-549A-5P	96.35	68.08	587
HSA-MIR-6828-3P	96.06	67.61	1155
HSA-MIR-337-5P	88.32	65.44	63

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tubal3	ENSMUSG00000021216
rattus_norvegicus	Tubal3	ENSRNOG00000028750

Paralogs (23): TUBG2 (ENSG00000037042), TUBE1 (ENSG00000074935), TUBA3D (ENSG00000075886), TUBB1 (ENSG00000101162), TUBB4A (ENSG00000104833), TUBD1 (ENSG00000108423), TUBA1B (ENSG00000123416), TUBA4A (ENSG00000127824), TUBG1 (ENSG00000131462), TUBB2A (ENSG00000137267), TUBB2B (ENSG00000137285), TUBA3E (ENSG00000152086), TUBA1A (ENSG00000167552), TUBA1C (ENSG00000167553), TUBB8B (ENSG00000173213), TUBB6 (ENSG00000176014), TUBA8 (ENSG00000183785), TUBB4B (ENSG00000188229), TUBB (ENSG00000196230), TUBA3C (ENSG00000198033), TUBA4B (ENSG00000243910), TUBB3 (ENSG00000258947), TUBB8 (ENSG00000261456)

Protein

Protein identifiers

Tubulin alpha chain-like 3 — A6NHL2 (reviewed: A6NHL2)

All UniProt accessions (1): A6NHL2

UniProt curated annotations — full annotation on UniProt →

Function. Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.

Subunit / interactions. Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.

Subcellular location. Cytoplasm. Cytoskeleton.

Post-translational modifications. Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group. Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold. Glutamylation is also involved in cilia motility. Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into cilia and flagella axonemes, which is required for their stability and maintenance. Flagella glycylation controls sperm motility. Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally.

Domain organisation. The MREC motif may be critical for tubulin autoregulation.

Similarity. Belongs to the tubulin family.

Isoforms (2)

UniProt ID	Names	Canonical?
A6NHL2-1	1	yes
A6NHL2-2	2

RefSeq proteins (2): NP_001165335, NP_079079* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000217	Tubulin	Family
IPR002452	Alpha_tubulin	Family
IPR003008	Tubulin_FtsZ_GTPase	Domain
IPR008280	Tub_FtsZ_C	Homologous_superfamily
IPR017975	Tubulin_CS	Conserved_site
IPR018316	Tubulin/FtsZ_2-layer-sand-dom	Domain
IPR023123	Tubulin_C	Homologous_superfamily
IPR036525	Tubulin/FtsZ_GTPase_sf	Homologous_superfamily
IPR037103	Tubulin/FtsZ-like_C	Homologous_superfamily

Pfam: PF00091, PF03953

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (17 total): binding site 9, sequence variant 2, sequence conflict 2, chain 1, short sequence motif 1, splice variant 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NHL2-F1	90.88	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 261

Ligand- & substrate-binding residues (9): 213; 235; 11; 78; 78; 147; 151; 152; 186

Function

Pathways and Gene Ontology

Reactome pathways

82 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-190840	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
R-HSA-190861	Gap junction assembly
R-HSA-2132295	MHC class II antigen presentation
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-3371497	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-389960	Formation of tubulin folding intermediates by CCT/TriC
R-HSA-389977	Post-chaperonin tubulin folding pathway
R-HSA-437239	Recycling pathway of L1
R-HSA-5620920	Cargo trafficking to the periciliary membrane
R-HSA-5626467	RHO GTPases activate IQGAPs
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-6807878	COPI-mediated anterograde transport
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-6811436	COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877	Mitotic Prometaphase
R-HSA-8852276	The role of GTSE1 in G2/M progression after G2 checkpoint
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin
R-HSA-9609690	HCMV Early Events
R-HSA-9609736	Assembly and cell surface presentation of NMDA receptors
R-HSA-9619483	Activation of AMPK downstream of NMDARs
R-HSA-9646399	Aggrephagy
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-9668328	Sealing of the nuclear envelope (NE) by ESCRT-III
R-HSA-983189	Kinesins
R-HSA-9833482	PKR-mediated signaling
R-HSA-5617833	Cilium Assembly
R-HSA-109582	Hemostasis

MSigDB gene sets: 124 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, REACTOME_MEMBRANE_TRAFFICKING, GOBP_MITOTIC_CELL_CYCLE, REACTOME_GAP_JUNCTION_ASSEMBLY, REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES, chr10p15, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION

GO Biological Process (4): microtubule cytoskeleton organization (GO:0000226), mitotic cell cycle (GO:0000278), cytoskeleton organization (GO:0007010), microtubule-based process (GO:0007017)

GO Molecular Function (5): structural constituent of cytoskeleton (GO:0005200), GTP binding (GO:0005525), hydrolase activity (GO:0016787), metal ion binding (GO:0046872), nucleotide binding (GO:0000166)

GO Cellular Component (3): cytoplasm (GO:0005737), microtubule (GO:0005874), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-17 pathways:

Category	Pathways
Mitotic Prometaphase	2
RHO GTPase Effectors	2
Golgi-to-ER retrograde transport	2
Membrane Trafficking	1
Transport of connexons to the plasma membrane	1
Gap junction trafficking	1
Adaptive Immune System	1
Mitotic Anaphase	1
Cellular responses to stress	1
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	1
Protein folding	1
L1CAM interactions	1
Assembly of the 9+0 primary cilium	1
ER to Golgi Anterograde Transport	1
M Phase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	2
microtubule-based process	1
cell cycle	1
mitotic nuclear division	1
organelle organization	1
cellular process	1
structural molecule activity	1
cytoskeleton	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
catalytic activity	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

3776 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TUBAL3	TUBB	P05218	887
TUBAL3	TUBB2A	Q13885	887
TUBAL3	TUBB6	Q9BUF5	812
TUBAL3	TUBB4A	P04350	809
TUBAL3	TUBB8	Q3ZCM7	809
TUBAL3	TUBB1	Q9H4B7	808
TUBAL3	TUBB4B	P05217	807
TUBAL3	TUBB2B	Q9BVA1	806
TUBAL3	TUBB3	Q13509	804
TUBAL3	ROBO3	Q96MS0	769
TUBAL3	HTATIP2	Q9BUP3	761
TUBAL3	HDAC6	Q9UBN7	505
TUBAL3	TUB	P50607	495
TUBAL3	PRKN	O60260	453
TUBAL3	EEF1A1	P04719	452

IntAct

45 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TGOLN2	DENND11	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
TUBA1A	TUBAL3	psi-mi:“MI:0914”(association)	0.420
TUBA1A	TUBAL3	psi-mi:“MI:2364”(proximity)	0.420
DUSP16	TUBAL3	psi-mi:“MI:0914”(association)	0.350
KATNAL2	CDK1	psi-mi:“MI:0914”(association)	0.350
METTL3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
RYBP	PIPSL	psi-mi:“MI:0914”(association)	0.350
UVRAG	TUBAL3	psi-mi:“MI:0914”(association)	0.350
HSP90AA1	TUBAL3	psi-mi:“MI:0914”(association)	0.350
ITM2B	ILVBL	psi-mi:“MI:0914”(association)	0.350
TXNDC9	TUBAL3	psi-mi:“MI:0914”(association)	0.350
TCP11L2	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CCT5	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CCT3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CAPS	TUBAL3	psi-mi:“MI:0914”(association)	0.350
TUBAL3	TCP1	psi-mi:“MI:0914”(association)	0.350
TUBAL3	TUBA4A	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): TUBAL3 (Affinity Capture-MS), TUBAL3 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6A (Affinity Capture-MS), TCP1 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), RIC8B (Affinity Capture-MS), TUBAL3 (Proximity Label-MS), TUBAL3 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), CCT6A (Affinity Capture-MS)

ESM2 similar proteins: A6NHL2, B9DGT7, O22347, O22349, O94128, P06604, P08070, P11139, P11237, P11480, P14640, P14641, P14642, P22275, P28287, P28752, P30436, P33627, P33629, P38669, P50719, P52274, P53372, P68366, P68367, P68368, P81948, P91910, Q02245, Q06331, Q0WV25, Q25008, Q25563, Q2HJB8, Q38771, Q3UX10, Q43473, Q52PV9, Q5I2J3, Q5XIF6

Diamond homologs: A5A6J1, A6NHL2, B9DGT7, B9DHQ0, O22347, O22349, P02550, P02552, P04105, P04689, P05213, P05214, P06603, P06604, P06605, P08070, P08537, P09204, P09644, P0DPH7, P0DPH8, P11480, P11481, P14640, P14641, P14642, P18258, P18288, P24633, P28287, P28752, P29511, P30436, P33625, P33627, P33629, P34690, P36220, P41351, P41383

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 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
Formation of tubulin folding intermediates by CCT/TriC	5	81.3×	4e-07
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	5	78.4×	4e-07
Prefoldin mediated transfer of substrate to CCT/TriC	5	75.7×	4e-07
Chaperonin-mediated protein folding	5	57.8×	1e-06
Protein folding	5	49.9×	2e-06
Cargo trafficking to the periciliary membrane	5	47.7×	2e-06
Cilium Assembly	6	25.1×	4e-06
Anchoring of the basal body to the plasma membrane	5	21.7×	7e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	5	15.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	76
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

746 predictions. Top by Δscore:

Variant	Effect	Δscore
10:5395332:T:TA	donor_gain	1.0000
10:5395472:CCAT:C	acceptor_gain	1.0000
10:5395473:CATC:C	acceptor_gain	1.0000
10:5395476:C:CC	acceptor_gain	1.0000
10:5395326:CCAG:C	donor_gain	0.9900
10:5395343:T:A	donor_gain	0.9900
10:5395471:CCCAT:C	acceptor_gain	0.9900
10:5395472:CCATC:C	acceptor_gain	0.9900
10:5395473:CAT:C	acceptor_gain	0.9900
10:5395475:TC:T	acceptor_loss	0.9900
10:5395476:CTG:C	acceptor_loss	0.9900
10:5395477:T:C	acceptor_loss	0.9900
10:5404786:TTACC:T	donor_loss	0.9900
10:5404787:TAC:T	donor_loss	0.9900
10:5404788:ACCA:A	donor_loss	0.9900
10:5395319:C:CT	donor_gain	0.9800
10:5395364:TCCG:T	donor_gain	0.9800
10:5395474:AT:A	acceptor_gain	0.9800
10:5404784:ACTT:A	donor_loss	0.9800
10:5404788:A:AC	donor_gain	0.9800
10:5404789:C:CC	donor_gain	0.9800
10:5404789:CCATG:C	donor_gain	0.9800
10:5401063:CGA:C	acceptor_gain	0.9600
10:5404788:AC:A	donor_gain	0.9600
10:5404789:CC:C	donor_gain	0.9600
10:5395321:A:AC	donor_gain	0.9500
10:5395322:C:CC	donor_gain	0.9500
10:5401086:CT:C	acceptor_gain	0.9500
10:5401088:C:G	acceptor_gain	0.9500
10:5395318:G:C	donor_gain	0.9400

AlphaMissense

2931 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:5393625:A:C	F411L	0.984
10:5393625:A:T	F411L	0.984
10:5393627:A:G	F411L	0.984
10:5393652:A:C	F402L	0.977
10:5393652:A:T	F402L	0.977
10:5393654:A:G	F402L	0.977
10:5393801:A:G	W353R	0.976
10:5393801:A:T	W353R	0.976
10:5393784:G:C	F358L	0.974
10:5393784:G:T	F358L	0.974
10:5393786:A:G	F358L	0.974
10:5393781:C:A	K359N	0.973
10:5393781:C:G	K359N	0.973
10:5394417:G:C	S147R	0.971
10:5394417:G:T	S147R	0.971
10:5394419:T:G	S147R	0.971
10:5393875:C:A	G328V	0.969
10:5393897:C:G	A321P	0.967
10:5393882:A:C	Y326D	0.966
10:5393697:G:C	N387K	0.964
10:5393697:G:T	N387K	0.964
10:5393785:A:G	F358S	0.962
10:5394036:G:C	F274L	0.959
10:5394036:G:T	F274L	0.959
10:5394038:A:G	F274L	0.959
10:5394105:A:C	F251L	0.958
10:5394105:A:T	F251L	0.958
10:5394107:A:G	F251L	0.958
10:5393675:A:G	W395R	0.957
10:5393675:A:T	W395R	0.957

dbSNP variants (sampled 300 via entrez): RS1000021060 (10:5401536 T>C), RS1000410825 (10:5405865 G>C,T), RS1000626731 (10:5400188 C>A), RS1000770604 (10:5394907 C>A), RS1001955308 (10:5394358 T>C), RS1002238342 (10:5394608 T>C), RS1002938213 (10:5403762 A>G,T), RS1003106608 (10:5398444 A>C), RS1003139265 (10:5398627 T>C,G), RS1003380113 (10:5403985 G>A), RS1004238893 (10:5406667 T>A,C), RS1004614148 (10:5406285 T>C), RS1005888091 (10:5399395 C>T), RS1006263706 (10:5403705 G>A), RS1006317439 (10:5403476 C>T)

Disease associations

OMIM: gene MIM:620835 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009391_1205	Metabolite levels	8.000000e-06
GCST009391_1513	Metabolite levels	5.000000e-06
GCST009391_259	Metabolite levels	6.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0010418	triacylglycerol 52:6 measurement
EFO:0010417	triacylglycerol 52:5 measurement
EFO:0010426	triacylglycerol 54:8 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3832941 (PROTEIN FAMILY), CHEMBL6067579 (PROTEIN-PROTEIN INTERACTION)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.58	IC50	26	nM	PIRONETIN
6.27	IC50	540	nM	CHEMBL4584084

PubChem BioAssay actives

2 with measured affinity, of 113 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
(2R,3R)-3-ethyl-2-[(E,2R,3S,4R,5S)-2-hydroxy-4-methoxy-3,5-dimethylnon-7-enyl]-2,3-dihydropyran-6-one	1572465: Inhibition of tubulin alpha in human A2780 cells assessed as reduction in cell growth	ic50	0.0260	uM
(2R,3R)-3-ethyl-2-[(2R,3S,4R,5S)-2-hydroxy-4-methoxy-3,5-dimethyl-6-[(2S,3S)-3-methyloxiran-2-yl]hexyl]-2,3-dihydropyran-6-one	1572465: Inhibition of tubulin alpha in human A2780 cells assessed as reduction in cell growth	ic50	0.5400	uM

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
butyraldehyde	increases expression	1
ochratoxin A	decreases expression	1
epigallocatechin gallate	increases expression	1
pentanal	increases expression	1
abrine	decreases expression	1
jinfukang	increases expression	1
Aldehydes	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases expression	1
Clozapine	increases expression	1
Ivermectin	decreases expression	1
Silicon Dioxide	decreases expression	1
Zinc	increases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	increases expression	1

ChEMBL screening assays

71 unique, capped per target: 70 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1804657	Binding	Inhibition of tubulin alpha in human SH-SY5Y cells assessed as inhibition of tubulin alpha polymerization at 3 times IC50 value after 24 hrs by immunofluorescence	Regioselective Suzuki coupling of dihaloheteroaromatic compounds as a rapid strategy to synthesize potent rigid combretastatin analogues. — J Med Chem
CHEMBL3803220	Functional	Induction of phenotypic perturbation in human ONS cells assessed as increase in apha tubulin marker at 10 uM after 24 hrs by alpha tubulin staining based assay relative to control	A Grand Challenge: Unbiased Phenotypic Function of Metabolites from Jaspis splendens against Parkinson’s Disease. — J Nat Prod

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder