TRAPPC6B

Summary

TRAPPC6B (trafficking protein particle complex subunit 6B, HGNC:23066) is a protein-coding gene on chromosome 14q21.1, encoding Trafficking protein particle complex subunit 6B (Q86SZ2). Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic.

TRAPPC6B is a component of TRAPP complexes, which are tethering complexes involved in vesicle transport (Kummel et al., 2005 [PubMed 16025134]).

Source: NCBI Gene 122553 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (Definitive, ClinGen)
• Clinical variants (ClinVar): 83 total — 6 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 29
• MANE Select transcript: NM_001079537

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23066
Approved symbol	TRAPPC6B
Name	trafficking protein particle complex subunit 6B
Location	14q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182400
Ensembl biotype	protein_coding
OMIM	610397
Entrez	122553

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000330149, ENST00000347691, ENST00000469361, ENST00000554018, ENST00000555269, ENST00000556765, ENST00000557764, ENST00000905959, ENST00000937620

RefSeq mRNA: 2 — MANE Select: NM_001079537 NM_001079537, NM_177452

CCDS: CCDS41947, CCDS9670

Canonical transcript exons

ENST00000330149 — 6 exons

Exon	Start	End
ENSE00001298290	39159483	39159550
ENSE00001846910	39170015	39170333
ENSE00003492679	39154211	39154294
ENSE00003554729	39151746	39151839
ENSE00003652865	39158285	39158402
ENSE00003848393	39147814	39150381

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 94.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.0489 / max 531.0837, expressed in 1808 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143015	22.7804	1804
143014	1.5956	987
143013	1.1884	698
143012	0.4846	199

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	94.07	gold quality
prefrontal cortex	UBERON:0000451	92.40	gold quality
cortical plate	UBERON:0005343	91.62	gold quality
tendon	UBERON:0000043	91.41	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.35	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.33	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.32	gold quality
cerebellar hemisphere	UBERON:0002245	91.12	gold quality
cerebellar cortex	UBERON:0002129	91.11	gold quality
cerebellum	UBERON:0002037	90.98	gold quality
frontal cortex	UBERON:0001870	90.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.20	gold quality
neocortex	UBERON:0001950	90.03	gold quality
anterior cingulate cortex	UBERON:0009835	90.01	gold quality
cerebral cortex	UBERON:0000956	89.45	gold quality
nucleus accumbens	UBERON:0001882	89.16	gold quality
oviduct epithelium	UBERON:0004804	88.87	gold quality
upper arm skin	UBERON:0004263	88.48	gold quality
sural nerve	UBERON:0015488	88.42	gold quality
brain	UBERON:0000955	88.38	gold quality
right frontal lobe	UBERON:0002810	88.36	gold quality
forebrain	UBERON:0001890	88.21	gold quality
ganglionic eminence	UBERON:0004023	88.17	gold quality
amygdala	UBERON:0001876	88.06	gold quality
primary visual cortex	UBERON:0002436	87.97	gold quality
putamen	UBERON:0001874	87.91	gold quality
occipital lobe	UBERON:0002021	87.91	gold quality
caudate nucleus	UBERON:0001873	87.77	gold quality
Ammon’s horn	UBERON:0001954	87.65	gold quality
pons	UBERON:0000988	87.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

90 targeting TRAPPC6B, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646

Literature-anchored findings (GeneRIF, showing 3)

• This study identified a TRAPPC6B gene mutation associated to the RLS locus on chromosome 14. (PMID:27569842)
• This study provides clinical and functional evidence of the role of TRAPPC6B in brain development and function. (PMID:28626029)
• TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. (PMID:37713627)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	trappc6b	ENSDARG00000016463
mus_musculus	Trappc6b	ENSMUSG00000020993
rattus_norvegicus	Trappc6b	ENSRNOG00000004103
drosophila_melanogaster	Trs33	FBGN0266722
caenorhabditis_elegans		WBGENE00010699

Paralogs (1): TRAPPC6A (ENSG00000007255)

Protein

Protein identifiers

Trafficking protein particle complex subunit 6B — Q86SZ2 (reviewed: Q86SZ2)

All UniProt accessions (3): Q86SZ2, G3V2H7, G3V4C3

UniProt curated annotations — full annotation on UniProt →

Function. Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic. Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival.

Subunit / interactions. Homodimer. Part of a TRAPP complex. Heterodimer with TRAPPC3. The heterodimer TRAPPC6B-TRAPPC3 interacts with TRAPPC1 likely providing a core for TRAPP complex formation.

Subcellular location. Golgi apparatus. cis-Golgi network. Endoplasmic reticulum.

Tissue specificity. Both isoforms are expressed ubiquitously (at transcript level), isoform 1 being the most predominant. Expressed in the fetal brain and different regions of the adult brain and spinal cord.

Disease relevance. Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) [MIM:617862] An autosomal recessive neurodevelopmental disorder characterized by microcephaly, global developmental delay, hypotonia, intellectual disability, autistic features such as poor social interaction, language impairment and repetitive automatism behaviors, and generalized tonic-clonic seizures. Brain imaging shows cortical atrophy, thin corpus callosum, and cerebellar and brainstem atrophy. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAPP small subunits family. BET3 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86SZ2-1	1	yes
Q86SZ2-2	2

RefSeq proteins (2): NP_001073005, NP_803235 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007194	TRAPP_component	Family
IPR024096	NO_sig/Golgi_transp_ligand-bd	Homologous_superfamily
IPR037992	TRAPPC6/Trs33	Family

Pfam: PF04051

UniProt features (16 total): helix 7, strand 4, chain 1, splice variant 1, sequence variant 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2BJN	X-RAY DIFFRACTION	1.7
3KXC	X-RAY DIFFRACTION	2
2CFH	X-RAY DIFFRACTION	2.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86SZ2-F1	92.93	0.81

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
31–32	impairs interaction with trappc1.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs

MSigDB gene sets: 162 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GOBP_VESICLE_LOCALIZATION, GOBP_VESICLE_ORGANIZATION, GCM_ZNF198, GOBP_VESICLE_TARGETING, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOCC_TRANS_GOLGI_NETWORK, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, GCM_SUFU, GOBP_MEMBRANE_ORGANIZATION, GOBP_ORGANELLE_LOCALIZATION, GOCC_CIS_GOLGI_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP

GO Biological Process (6): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), vesicle coat assembly (GO:0006901), nervous system development (GO:0007399), obsolete vesicle tethering (GO:0099022), regulation of GTPase activity (GO:0043087), Golgi vesicle transport (GO:0048193)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cis-Golgi network (GO:0005801), trans-Golgi network (GO:0005802), cytosol (GO:0005829), TRAPP complex (GO:0030008), TRAPPII protein complex (GO:1990071), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
ER to Golgi Anterograde Transport	1
Rab regulation of trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	4
intracellular membrane-bounded organelle	3
cellular anatomical structure	2
endomembrane system	2
Golgi apparatus	2
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
vesicle budding from membrane	1
vesicle organization	1
system development	1
GTPase activity	1
regulation of hydrolase activity	1
vesicle-mediated transport	1
binding	1
intracellular anatomical structure	1
Golgi apparatus subcompartment	1
vesicle tethering complex	1
intracellular protein-containing complex	1
endosome	1
TRAPP complex	1

Protein interactions and networks

STRING

1292 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRAPPC6B	TRAPPC3	O43617	963
TRAPPC6B	TRAPPC2	P0DI81	845
TRAPPC6B	TRAPPC9	Q96Q05	837
TRAPPC6B	TRAPPC4	Q9Y296	827
TRAPPC6B	TRAPPC12	Q8WVT3	809
TRAPPC6B	TRAPPC8	Q9Y2L5	805
TRAPPC6B	TRAPPC10	P48553	793
TRAPPC6B	TRAPPC3L	Q5T215	721
TRAPPC6B	TRAPPC11	Q7Z392	715
TRAPPC6B	TRAPPC5	Q8IUR0	676
TRAPPC6B	TRAPPC2L	Q9UL33	668
TRAPPC6B	TRAPPC13	A5PLN9	664
TRAPPC6B	PRR35	P0CG20	604
TRAPPC6B	TRAPPC1	Q9Y5R8	591
TRAPPC6B	KBTBD12	Q3ZCT8	540

IntAct

53 interactions, top by confidence:

A	B	Type	Score
RUFY4	NDC80	psi-mi:“MI:0914”(association)	0.830
TRAPPC6A	TRAPPC3	psi-mi:“MI:0403”(colocalization)	0.720
RAB3IP	TRAPPC3	psi-mi:“MI:0914”(association)	0.700
TRAPPC3	TRAPPC6B	psi-mi:“MI:0915”(physical association)	0.640
TRAPPC6B	TRAPPC3	psi-mi:“MI:0915”(physical association)	0.640
TRAPPC2L	TRAPPC13	psi-mi:“MI:0914”(association)	0.560
TRAPPC12	TRAPPC3	psi-mi:“MI:0914”(association)	0.530
TRAPPC1	TRAPPC13	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
BCL2L14	CHEK1	psi-mi:“MI:0914”(association)	0.530
BMP2K	TRAPPC6B	psi-mi:“MI:0915”(physical association)	0.370
GOLM1	RAB19	psi-mi:“MI:0914”(association)	0.350
TRAPPC3	TRAPPC6B	psi-mi:“MI:0914”(association)	0.350
BCL2L14		psi-mi:“MI:0914”(association)	0.350
CCDC102B	TARSL2	psi-mi:“MI:0914”(association)	0.350
	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TRAPPC5	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TBC1D14		psi-mi:“MI:0914”(association)	0.350
TRAPPC1	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
GLB1		psi-mi:“MI:0914”(association)	0.350
STMN4		psi-mi:“MI:0914”(association)	0.350
KCTD3	PCMT1	psi-mi:“MI:0914”(association)	0.350
TRAPPC11	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
TRAPPC2	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
trappc2_trappc2b_human	TRAPPC13	psi-mi:“MI:0914”(association)	0.350

BioGRID (68): TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC3 (Co-fractionation), TRAPPC6B (Co-fractionation), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS)

ESM2 similar proteins: B4S3A5, F1QMV3, O01757, O08700, O75865, P06814, P08096, P15847, P30182, P34605, P36149, P41810, P87078, P87303, P97390, Q01879, Q09191, Q09805, Q22307, Q24179, Q2M197, Q32L78, Q3T086, Q54GE3, Q54YG5, Q5F3Z1, Q61IU9, Q6AX60, Q6BIJ0, Q6BZX4, Q6GME1, Q6PEI7, Q7KQM2, Q86K94, Q86SZ2, Q94KJ7, Q9BMM1, Q9BMX3, Q9D289, Q9EQP2

Diamond homologs: F1QMV3, O75865, Q09784, Q32L78, Q3T086, Q78XR0, Q86SZ2, Q99394, Q9D289

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
RAB GEFs exchange GTP for GDP on RABs	12	46.5×	1e-15
COPII-mediated vesicle transport	7	35.7×	7e-08

GO biological processes:

GO term	Partners	Fold	FDR
obsolete vesicle tethering	10	254.2×	6e-21
COPII vesicle coat assembly	8	144.0×	2e-14
endoplasmic reticulum to Golgi vesicle-mediated transport	11	38.3×	2e-13

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	5
Uncertain significance	32
Likely benign	20
Benign	9

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1691780	NM_001079537.2(TRAPPC6B):c.82-2A>G	Pathogenic
1967580	NM_001079537.2(TRAPPC6B):c.283C>T (p.Gln95Ter)	Pathogenic
3905739	NM_001079537.2(TRAPPC6B):c.120dup (p.Phe41fs)	Pathogenic
4292277	NM_001079537.2(TRAPPC6B):c.29del (p.Leu10fs)	Pathogenic
488423	NM_001079537.2(TRAPPC6B):c.150-2A>G	Pathogenic
488424	NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter)	Pathogenic
2633401	NM_001079537.2(TRAPPC6B):c.37G>T (p.Glu13Ter)	Likely pathogenic
3255618	NM_001079537.2(TRAPPC6B):c.268-2_268-1del	Likely pathogenic
4292207	NM_001079537.2(TRAPPC6B):c.99_100dup (p.Thr34fs)	Likely pathogenic
974890	NM_001079537.2(TRAPPC6B):c.149+2T>A	Likely pathogenic
988920	GRCh37/hg19 14q21.1(chr14:39615245-39625047)x1	Likely pathogenic

SpliceAI

1066 predictions. Top by Δscore:

Variant	Effect	Δscore
14:39151744:A:AC	donor_gain	1.0000
14:39151745:C:CC	donor_gain	1.0000
14:39151745:CAAG:C	donor_gain	1.0000
14:39151838:TA:T	acceptor_gain	1.0000
14:39151840:C:CC	acceptor_gain	1.0000
14:39154206:AATAC:A	donor_loss	1.0000
14:39154207:ATACC:A	donor_loss	1.0000
14:39154208:TAC:T	donor_loss	1.0000
14:39154209:A:AG	donor_loss	1.0000
14:39154210:C:CG	donor_loss	1.0000
14:39158280:ATTAC:A	donor_loss	1.0000
14:39158281:TTACC:T	donor_loss	1.0000
14:39158282:TA:T	donor_loss	1.0000
14:39158283:ACCT:A	donor_loss	1.0000
14:39150312:T:C	donor_gain	0.9900
14:39151744:ACAAG:A	donor_gain	0.9900
14:39151745:CA:C	donor_gain	0.9900
14:39151745:CAAGC:C	donor_gain	0.9900
14:39151837:ATA:A	acceptor_gain	0.9900
14:39151840:CTAA:C	acceptor_loss	0.9900
14:39154231:A:AC	donor_gain	0.9900
14:39154232:C:CC	donor_gain	0.9900
14:39154238:T:A	donor_gain	0.9900
14:39154293:CCCTG:C	acceptor_loss	0.9900
14:39154294:CCTGT:C	acceptor_loss	0.9900
14:39154296:T:A	acceptor_loss	0.9900
14:39154301:C:CT	acceptor_gain	0.9900
14:39154302:A:T	acceptor_gain	0.9900
14:39158399:AAAC:A	acceptor_loss	0.9900
14:39158400:AACC:A	acceptor_loss	0.9900

AlphaMissense

1044 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:39150375:A:G	F151S	1.000
14:39151775:A:T	V139E	1.000
14:39151808:C:A	G128V	1.000
14:39151808:C:T	G128D	1.000
14:39151809:C:A	G128C	1.000
14:39151809:C:G	G128R	1.000
14:39151820:C:A	G124V	1.000
14:39151820:C:T	G124D	1.000
14:39151821:C:G	G124R	1.000
14:39154281:A:G	L94P	1.000
14:39154281:A:T	L94H	1.000
14:39154284:A:T	V93E	1.000
14:39154288:A:C	Y92D	1.000
14:39154294:C:G	G90R	1.000
14:39158288:A:C	H88Q	1.000
14:39158288:A:T	H88Q	1.000
14:39158290:G:C	H88D	1.000
14:39158291:A:C	N87K	1.000
14:39158291:A:T	N87K	1.000
14:39158295:G:A	T86I	1.000
14:39158297:C:A	R85S	1.000
14:39158297:C:G	R85S	1.000
14:39158298:C:A	R85M	1.000
14:39158298:C:G	R85T	1.000
14:39158301:A:G	L84P	1.000
14:39158301:A:T	L84Q	1.000
14:39158307:T:A	D82V	1.000
14:39158308:C:G	D82H	1.000
14:39158335:A:G	W73R	1.000
14:39158335:A:T	W73R	1.000

dbSNP variants (sampled 300 via entrez): RS1000007592 (14:39163015 T>C), RS1000221466 (14:39151435 G>A), RS1000392277 (14:39168588 A>G), RS1000524105 (14:39154670 T>C), RS1000535371 (14:39154857 T>C), RS1000693200 (14:39172012 G>A), RS1001086477 (14:39149187 T>C), RS1001178917 (14:39163328 G>A), RS1001216975 (14:39157125 A>C), RS1001258381 (14:39166625 G>A), RS1001381837 (14:39152080 G>C), RS1001442072 (14:39151789 T>A,G), RS1001456060 (14:39170815 C>A,G,T), RS1001466731 (14:39157665 C>T), RS1001680767 (14:39163101 G>A)

Disease associations

OMIM: gene MIM:610397 | disease phenotypes: MIM:617862

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	Definitive	AR

Mondo (1): neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MONDO:0060640)

Orphanet (0):

HPO phenotypes

29 total (29 of 29 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000253	Progressive microcephaly
HP:0000486	Strabismus
HP:0000666	Horizontal nystagmus
HP:0000733	Motor stereotypy
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001324	Muscle weakness
HP:0001344	Absent speech
HP:0001347	Hyperreflexia
HP:0002015	Dysphagia
HP:0002066	Gait ataxia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002120	Cerebral cortical atrophy
HP:0002136	Broad-based gait
HP:0002194	Delayed gross motor development
HP:0002378	Hand tremor
HP:0003593	Infantile onset
HP:0003676	Progressive
HP:0004322	Short stature
HP:0007366	Atrophy/Degeneration affecting the brainstem
HP:0010862	Delayed fine motor development
HP:0010864	Severe intellectual disability
HP:0011463	Childhood onset
HP:0033044	Motor regression
HP:0100023	Recurrent hand flapping

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance, increases expression	3
sodium arsenite	increases abundance, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, affects expression, increases abundance	1
trichostatin A	affects expression	1
butyraldehyde	decreases expression	1
zinc chromate	increases abundance, increases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Endosulfan	increases expression	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Phenobarbital	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2ML	HAP1 TRAPPC6B (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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