HEATR5B

Summary

HEATR5B (HEAT repeat containing 5B, HGNC:29273) is a protein-coding gene on chromosome 2p22.2, encoding HEAT repeat-containing protein 5B (Q9P2D3). Component of clathrin-coated vesicles.

Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in Golgi apparatus; cytosol; and nucleoplasm.

Source: NCBI Gene 54497 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pontocerebellar hypoplasia (Moderate, GenCC)
• GWAS associations: 12
• Clinical variants (ClinVar): 295 total — 3 likely-pathogenic
• MANE Select transcript: NM_019024

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29273
Approved symbol	HEATR5B
Name	HEAT repeat containing 5B
Location	2p22.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1414, DKFZp686P15184, p200, p200a
Ensembl gene	ENSG00000008869
Ensembl biotype	protein_coding
OMIM	619627
Entrez	54497

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 3 retained_intron

ENST00000233099, ENST00000425467, ENST00000467978, ENST00000471051, ENST00000478810, ENST00000903977, ENST00000903978, ENST00000903979, ENST00000903980, ENST00000903981, ENST00000903982, ENST00000920713, ENST00000920714, ENST00000920715, ENST00000920716, ENST00000920717, ENST00000920718, ENST00000950344

RefSeq mRNA: 1 — MANE Select: NM_019024 NM_019024

CCDS: CCDS33181

Canonical transcript exons

ENST00000233099 — 36 exons

Exon	Start	End
ENSE00000397453	37005632	37005759
ENSE00000397456	37000586	37000813
ENSE00000747126	37002306	37002572
ENSE00000809598	36988646	36988859
ENSE00000809599	36990648	36990799
ENSE00000809601	37003542	37003686
ENSE00000809603	37007050	37007304
ENSE00000809604	37008611	37008848
ENSE00001404475	37084269	37084372
ENSE00001599689	37076911	37077019
ENSE00001607869	37020655	37020836
ENSE00001626463	37058451	37058560
ENSE00001626844	37060581	37060733
ENSE00001634083	37028681	37028920
ENSE00001641482	37075485	37075634
ENSE00001651969	37064740	37064990
ENSE00001653294	37013841	37014020
ENSE00001654688	37072110	37072281
ENSE00001674415	37057317	37057480
ENSE00001690150	37037855	37038024
ENSE00001693452	37068681	37068930
ENSE00001697720	37070230	37070387
ENSE00001700498	37027923	37028174
ENSE00001716222	37040329	37040518
ENSE00001720462	37019809	37019877
ENSE00001729909	37061939	37062050
ENSE00001748954	37065755	37065910
ENSE00001756563	37056440	37056615
ENSE00001766248	37058888	37058987
ENSE00001775312	37079120	37079331
ENSE00001796044	37041133	37041292
ENSE00001796147	37083289	37083436
ENSE00001799079	37032629	37032773
ENSE00001923918	36980895	36981794
ENSE00003488669	37049653	37049843
ENSE00003603864	37053502	37053607

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 97.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4821 / max 229.6578, expressed in 1771 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27759	11.4148	1763
27758	1.5101	620
27757	0.5483	267
27760	0.0090	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	97.21	gold quality
oviduct epithelium	UBERON:0004804	95.24	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.30	gold quality
ileal mucosa	UBERON:0000331	93.30	gold quality
myocardium	UBERON:0002349	93.04	gold quality
upper arm skin	UBERON:0004263	92.46	gold quality
heart right ventricle	UBERON:0002080	91.53	gold quality
cortical plate	UBERON:0005343	89.51	gold quality
epithelial cell of pancreas	CL:0000083	89.00	silver quality
calcaneal tendon	UBERON:0003701	88.59	gold quality
cerebellar vermis	UBERON:0004720	88.44	gold quality
body of pancreas	UBERON:0001150	88.43	gold quality
tibia	UBERON:0000979	88.37	gold quality
upper leg skin	UBERON:0004262	88.16	gold quality
skin of hip	UBERON:0001554	88.15	gold quality
thymus	UBERON:0002370	88.06	gold quality
bone marrow cell	CL:0002092	88.03	gold quality
bronchial epithelial cell	CL:0002328	87.91	gold quality
bronchus	UBERON:0002185	87.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.04	gold quality
tonsil	UBERON:0002372	87.03	gold quality
pancreas	UBERON:0001264	86.74	gold quality
Brodmann (1909) area 46	UBERON:0006483	86.61	gold quality
jejunal mucosa	UBERON:0000399	86.24	gold quality
pancreatic ductal cell	CL:0002079	86.19	silver quality
seminal vesicle	UBERON:0000998	86.19	gold quality
epithelium of nasopharynx	UBERON:0001951	86.19	gold quality
nasopharynx	UBERON:0001728	86.17	gold quality
middle temporal gyrus	UBERON:0002771	86.16	gold quality
superficial temporal artery	UBERON:0001614	86.01	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.05
E-MTAB-7606	no	2569.38
E-MTAB-6058	no	284.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting HEATR5B, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-7849-3P	99.47	68.17	1224
HSA-MIR-6828-5P	99.31	69.21	1433

Literature-anchored findings (GeneRIF, showing 2)

• Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. (PMID:33824466)
• Fast-evolving cofactors regulate the role of HEATR5 complexes in intra-Golgi trafficking. (PMID:38240799)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	heatr5b	ENSDARG00000059116
mus_musculus	Heatr5b	ENSMUSG00000039414
rattus_norvegicus	Heatr5b	ENSRNOG00000025926
drosophila_melanogaster	CG2747	FBGN0037541
caenorhabditis_elegans		WBGENE00015743

Paralogs (1): HEATR5A (ENSG00000129493)

Protein

Protein identifiers

HEAT repeat-containing protein 5B — Q9P2D3 (reviewed: Q9P2D3)

All UniProt accessions (2): Q9P2D3, H7C2X3

UniProt curated annotations — full annotation on UniProt →

Function. Component of clathrin-coated vesicles. Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes.

Subunit / interactions. Self-associates. Component of the aftiphilin/p200/gamma-synergin complex, at least composed of AFTPH/aftiphilin, HEATR5B/p200a and SYNRG/gamma-synergin, which plays a role in the AP1G1/AP-1-mediated protein trafficking from early to recycling endosomes and between the trans-Golgi network (TGN) and endosomes. Within the complex interacts with AFTPH/aftiphilin and SYNRG/gamma-synergin; the interactions are direct. Interacts with GGA1.

Subcellular location. Cytoplasm. Perinuclear region. Cytoplasmic vesicle. Clathrin-coated vesicle.

Similarity. Belongs to the HEATR5 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9P2D3-1	1	yes
Q9P2D3-2	2
Q9P2D3-3	3

RefSeq proteins (1): NP_061897* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR040108	Laa1/Sip1/HEATR5	Family
IPR046837	Laa1/Sip1/HEATR5-like_HEAT	Repeat

Pfam: PF20210, PF25468

UniProt features (14 total): modified residue 4, repeat 3, splice variant 3, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2D3-F1	81.47	0.35

Functional residue map

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

Post-translational modifications (4): 1123, 1563, 1564, 1737

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 81 (showing top): GCM_ZNF198, GOBP_VESICLE_MEDIATED_TRANSPORT, GOCC_COATED_VESICLE, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, CUI_TCF21_TARGETS_2_DN, GOBP_IMPORT_INTO_CELL, GOBP_ENDOCYTOSIS, GOCC_CLATHRIN_COATED_VESICLE, GOBP_CYTOSOLIC_TRANSPORT, GOCC_ENDOCYTIC_VESICLE, chr2p22, GOBP_ENDOSOMAL_TRANSPORT, GOBP_INTRACELLULAR_TRANSPORT, HES4_TARGET_GENES, HHEX_TARGET_GENES

GO Biological Process (4): endocytosis (GO:0006897), intracellular protein localization (GO:0008104), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147)

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

GO Cellular Component (9): nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), clathrin-coated vesicle (GO:0030136), endocytic vesicle (GO:0030139), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cytoplasm	4
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
macromolecule localization	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
intercellular transport	1
endosomal transport	1
cytosolic transport	1
binding	1
nuclear lumen	1
endomembrane system	1
intracellular membrane-bounded organelle	1
coated vesicle	1
cytoplasmic vesicle	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

766 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HEATR5B	SLC67A1-AS	Q8N1D0	473
HEATR5B	GLYATL3	Q5SZD4	453
HEATR5B	FAM174A	Q8TBP5	452
HEATR5B	VSIG10	Q8N0Z9	434
HEATR5B	WDR31	Q8NA23	417
HEATR5B	SMIM3	Q9BZL3	412
HEATR5B	TTC17	Q96AE7	411
HEATR5B	SCFD1	Q8WVM8	411
HEATR5B	PLEKHH3	Q7Z736	398
HEATR5B	ACP7	Q6ZNF0	382
HEATR5B	SNTN	A6NMZ2	380
HEATR5B	AFTPH	Q6ULP2	370
HEATR5B	TTC23	Q5W5X9	369
HEATR5B	SCYL2	Q6P3W7	367
HEATR5B	WDR70	Q9NW82	363

IntAct

36 interactions, top by confidence:

A	B	Type	Score
PTPN3	YWHAQ	psi-mi:“MI:2364”(proximity)	0.850
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
PTPN3	MCC	psi-mi:“MI:0914”(association)	0.660
AP1S2	AP1G1	psi-mi:“MI:0914”(association)	0.660
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
ANKRD22	ESYT2	psi-mi:“MI:0914”(association)	0.530
MLF1	NDC80	psi-mi:“MI:0914”(association)	0.530
AURKA	WDR62	psi-mi:“MI:0914”(association)	0.530
SCRIB	HEATR5B	psi-mi:“MI:0407”(direct interaction)	0.440
DLG1	HEATR5B	psi-mi:“MI:0407”(direct interaction)	0.440
AP1S2	SLC43A3	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLTA	CLTB	psi-mi:“MI:0914”(association)	0.350
GPR17	TMEM120B	psi-mi:“MI:0914”(association)	0.350
EFNA4	NBAS	psi-mi:“MI:0914”(association)	0.350
RAB43	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
AP1B1	SYNJ1	psi-mi:“MI:0914”(association)	0.350
AP1S3	AP1G1	psi-mi:“MI:0914”(association)	0.350
AP1M2	AP1G1	psi-mi:“MI:0914”(association)	0.350

BioGRID (80): HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Affinity Capture-MS), HEATR5B (Proximity Label-MS)

ESM2 similar proteins: A0JP94, A1A5F2, A1EC95, A2BID5, A9JRI0, E7FAW3, E7FBU4, E9PVA8, F4HRS2, F4IP13, K8ERU3, O35095, O43299, P42695, P49815, P49816, Q08CY4, Q0DJS1, Q28205, Q2KJ97, Q3U829, Q3UHQ6, Q5JWR5, Q5PRF0, Q5R5R2, Q5SPP5, Q5ZIG0, Q61037, Q640K1, Q642P2, Q68F70, Q6AI08, Q6GN08, Q6GPP1, Q6P1G0, Q6ZNJ1, Q6ZQA0, Q6ZQK0, Q7T006, Q7ZY56

Diamond homologs: A0JP94, A1A5F2, Q5PRF0, Q86XA9, Q8C547, Q8JFV4, Q9P2D3, P39526

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	5	113.3×	2e-08
The role of Nef in HIV-1 replication and disease pathogenesis	5	113.3×	2e-08
Lysosome Vesicle Biogenesis	7	81.6×	3e-10
Host Interactions of HIV factors	5	60.0×	5e-07
trans-Golgi Network Vesicle Budding	5	45.3×	2e-06
Golgi Associated Vesicle Biogenesis	6	42.9×	1e-07
HIV Infection	5	21.2×	5e-05
MHC class II antigen presentation	6	19.1×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
synaptic vesicle endocytosis	5	65.5×	3e-06
intracellular protein transport	8	15.7×	4e-06
vesicle-mediated transport	5	14.6×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	3
Uncertain significance	244
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
2429105	NM_019024.3(HEATR5B):c.1615C>T (p.Arg539Ter)	Likely pathogenic
992892	NM_019024.3(HEATR5B):c.5051-1G>A	Likely pathogenic
992893	NM_019024.3(HEATR5B):c.5050+4A>G	Likely pathogenic

SpliceAI

6366 predictions. Top by Δscore:

Variant	Effect	Δscore
2:36981792:CTC:C	acceptor_gain	1.0000
2:36981793:TC:T	acceptor_gain	1.0000
2:36981794:CC:C	acceptor_gain	1.0000
2:36981795:C:CC	acceptor_gain	1.0000
2:36988638:ATACT:A	donor_loss	1.0000
2:36988639:TACTT:T	donor_loss	1.0000
2:36988640:ACTT:A	donor_loss	1.0000
2:36988641:CT:C	donor_loss	1.0000
2:36988642:TTACT:T	donor_loss	1.0000
2:36988643:TA:T	donor_loss	1.0000
2:36988644:A:AC	donor_gain	1.0000
2:36988644:ACT:A	donor_loss	1.0000
2:36988645:C:CA	donor_gain	1.0000
2:36988645:C:G	donor_loss	1.0000
2:36988645:CT:C	donor_gain	1.0000
2:36988645:CTG:C	donor_gain	1.0000
2:36988645:CTGT:C	donor_gain	1.0000
2:36988645:CTGTT:C	donor_gain	1.0000
2:37000580:GGTTA:G	donor_loss	1.0000
2:37000581:GTTA:G	donor_loss	1.0000
2:37000582:TTACC:T	donor_loss	1.0000
2:37000583:TACCT:T	donor_loss	1.0000
2:37000584:A:AT	donor_loss	1.0000
2:37000585:C:A	donor_loss	1.0000
2:37000810:CATC:C	acceptor_gain	1.0000
2:37002347:A:C	donor_gain	1.0000
2:37002374:T:A	donor_gain	1.0000
2:37003540:A:AC	donor_gain	1.0000
2:37003541:C:CG	donor_gain	1.0000
2:37003545:G:C	donor_gain	1.0000

AlphaMissense

13395 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:37008665:C:G	D1490H	1.000
2:37008683:A:G	W1484R	1.000
2:37008683:A:T	W1484R	1.000
2:37013846:C:G	A1427P	1.000
2:37013849:A:G	W1426R	1.000
2:37013849:A:T	W1426R	1.000
2:37013950:A:G	L1392P	1.000
2:37013953:A:G	L1391P	1.000
2:37013971:A:G	L1385P	1.000
2:37014006:C:A	W1373C	1.000
2:37014006:C:G	W1373C	1.000
2:37014008:A:G	W1373R	1.000
2:37014008:A:T	W1373R	1.000
2:37019851:A:C	F1354L	1.000
2:37019851:A:T	F1354L	1.000
2:37019853:A:G	F1354L	1.000
2:37019864:A:G	L1350P	1.000
2:37019867:G:T	A1349D	1.000
2:37020674:A:G	L1339P	1.000
2:37020691:A:C	F1333L	1.000
2:37020691:A:T	F1333L	1.000
2:37020693:A:G	F1333L	1.000
2:37020737:A:G	L1318P	1.000
2:37020746:A:G	L1315P	1.000
2:37020749:C:T	G1314E	1.000
2:37020750:C:A	G1314W	1.000
2:37020750:C:G	G1314R	1.000
2:37020750:C:T	G1314R	1.000
2:37020790:G:C	F1300L	1.000
2:37020790:G:T	F1300L	1.000

dbSNP variants (sampled 300 via entrez): RS1000041110 (2:37009492 G>A), RS1000046415 (2:36984584 A>G), RS1000061893 (2:37037330 A>G), RS1000151344 (2:37083994 A>C,G), RS1000175946 (2:36999728 C>T), RS1000217757 (2:37004545 T>C), RS1000231200 (2:37078772 C>T), RS1000241044 (2:37005520 A>G), RS1000244742 (2:37040908 A>G), RS1000262246 (2:37078465 T>A), RS1000309890 (2:36993602 T>C), RS1000313954 (2:37051106 C>T), RS1000330881 (2:36994728 A>C), RS1000346874 (2:37034848 G>A), RS1000372322 (2:37072449 A>G)

Disease associations

OMIM: gene MIM:619627 | disease phenotypes: MIM:618501

GenCC curated gene-disease

Disease	Classification	Inheritance
pontocerebellar hypoplasia	Moderate	Autosomal recessive

Mondo (2): cerebellar atrophy with seizures and variable developmental delay (MONDO:0032788), pontocerebellar hypoplasia (MONDO:0020135)

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST007103_4	QRS duration	1.000000e-08
GCST007104_4	QRS duration	1.000000e-13
GCST007267_282	Systolic blood pressure	6.000000e-09
GCST008163_2	Height	4.000000e-06
GCST008972_261	Urate levels	4.000000e-08
GCST010697_37	Cortical surface area (min-P)	6.000000e-31
GCST010698_20	Subcortical volume (min-P)	1.000000e-08
GCST010699_106	Brain morphology (min-P)	2.000000e-11
GCST010700_34	Cortical thickness (MOSTest)	2.000000e-08
GCST010701_57	Cortical surface area (MOSTest)	4.000000e-16
GCST010702_109	Subcortical volume (MOSTest)	1.000000e-09
GCST010703_96	Brain morphology (MOSTest)	6.000000e-46

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0004531	urate measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C580383	Pontocerebellar Hypoplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
tetrabromobisphenol A	decreases expression	1
manganese chloride	decreases expression, increases abundance	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Arsenic Trioxide	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dinitrochlorobenzene	decreases expression	1
Doxorubicin	decreases expression	1
Eugenol	decreases expression	1
Hydralazine	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, decreases expression	1
Methapyrilene	increases methylation	1
Urethane	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	decreases methylation, increases methylation	1

Clinical trials (associated diseases)

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