TOGARAM1

Summary

TOGARAM1 (TOG array regulator of axonemal microtubules 1, HGNC:19959) is a protein-coding gene on chromosome 14q21.2, encoding TOG array regulator of axonemal microtubules protein 1 (Q9Y4F4). Involved in ciliogenesis.

Predicted to enable microtubule binding activity. Involved in cilium assembly. Located in axoneme. Implicated in Joubert syndrome.

Source: NCBI Gene 23116 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 307 total — 7 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 68
• MANE Select transcript: NM_001308120

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19959
Approved symbol	TOGARAM1
Name	TOG array regulator of axonemal microtubules 1
Location	14q21.2
Locus type	gene with protein product
Status	Approved
Aliases	Crescerin-1, crescerin
Ensembl gene	ENSG00000198718
Ensembl biotype	protein_coding
OMIM	617618
Entrez	23116

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay

ENST00000361462, ENST00000361577, ENST00000555586, ENST00000555607, ENST00000555874, ENST00000555945, ENST00000556105, ENST00000556823, ENST00000557250, ENST00000557423, ENST00000876559

RefSeq mRNA: 2 — MANE Select: NM_001308120 NM_001308120, NM_015091

CCDS: CCDS76676, CCDS9681

Canonical transcript exons

ENST00000361462 — 20 exons

Exon	Start	End
ENSE00000889866	45008913	45009145
ENSE00001491322	44962190	44964467
ENSE00003473406	45043686	45043791
ENSE00003506735	45044635	45044870
ENSE00003520837	45027299	45027474
ENSE00003520990	45073296	45074431
ENSE00003567557	45068424	45068643
ENSE00003580072	44999363	44999497
ENSE00003582457	45011975	45012075
ENSE00003605623	45066578	45066767
ENSE00003606230	45028176	45028329
ENSE00003619685	45004061	45004366
ENSE00003627375	45052436	45052562
ENSE00003628380	44995746	44995902
ENSE00003645909	45046545	45046703
ENSE00003650198	45054431	45054549
ENSE00003669140	45032223	45032376
ENSE00003686041	45025783	45025872
ENSE00003689895	45071712	45071798
ENSE00003784381	45006008	45006267

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 95.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2889 / max 172.2434, expressed in 1771 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139404	12.1814	1771
139405	0.1075	50

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	95.95	gold quality
tibia	UBERON:0000979	94.52	gold quality
epithelium of bronchus	UBERON:0002031	94.22	gold quality
choroid plexus epithelium	UBERON:0003911	94.19	gold quality
bronchus	UBERON:0002185	93.36	gold quality
calcaneal tendon	UBERON:0003701	92.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.12	gold quality
corpus callosum	UBERON:0002336	92.11	gold quality
endothelial cell	CL:0000115	90.95	gold quality
Brodmann (1909) area 10	UBERON:0013541	90.76	gold quality
parietal pleura	UBERON:0002400	90.65	gold quality
postcentral gyrus	UBERON:0002581	90.19	gold quality
germinal epithelium of ovary	UBERON:0001304	89.96	gold quality
superior frontal gyrus	UBERON:0002661	89.86	gold quality
adrenal tissue	UBERON:0018303	89.86	gold quality
middle temporal gyrus	UBERON:0002771	89.77	gold quality
mucosa of paranasal sinus	UBERON:0005030	89.76	gold quality
pigmented layer of retina	UBERON:0001782	89.29	gold quality
ventricular zone	UBERON:0003053	89.06	gold quality
parietal lobe	UBERON:0001872	89.03	gold quality
CA1 field of hippocampus	UBERON:0003881	88.93	gold quality
epithelium of nasopharynx	UBERON:0001951	88.72	gold quality
caput epididymis	UBERON:0004358	88.66	gold quality
frontal pole	UBERON:0002795	88.50	gold quality
entorhinal cortex	UBERON:0002728	88.44	gold quality
prefrontal cortex	UBERON:0000451	88.21	gold quality
primary visual cortex	UBERON:0002436	88.13	gold quality
pleura	UBERON:0000977	88.07	gold quality
cortical plate	UBERON:0005343	88.05	gold quality
right uterine tube	UBERON:0001302	87.96	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6678	yes	35.08
E-ANND-3	yes	6.04
E-MTAB-6379	no	284.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

107 targeting TOGARAM1, 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-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
mus_musculus	Togaram1	ENSMUSG00000035614
rattus_norvegicus	Togaram1	ENSRNOG00000004415
drosophila_melanogaster	chb	FBGN0021760
caenorhabditis_elegans		WBGENE00000549
caenorhabditis_elegans		WBGENE00013847
caenorhabditis_elegans		WBGENE00015580

Paralogs (3): CLASP1 (ENSG00000074054), CLASP2 (ENSG00000163539), TOGARAM2 (ENSG00000189350)

Protein

Protein identifiers

TOG array regulator of axonemal microtubules protein 1 — Q9Y4F4 (reviewed: Q9Y4F4)

Alternative names: Crescerin-1, Protein FAM179B

All UniProt accessions (5): Q9Y4F4, G3V3B1, G3XAE9, H0YIY7, H0YJ89

UniProt curated annotations — full annotation on UniProt →

Function. Involved in ciliogenesis. It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length. Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4.

Subunit / interactions. Interacts with ARMC9, CCDC66, CEP104 and CSPP1.

Subcellular location. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Cilium axoneme.

Disease relevance. Joubert syndrome 37 (JBTS37) [MIM:619185] A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS37 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.

Similarity. Belongs to the Crescerin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9Y4F4-1	1	yes
Q9Y4F4-2	2
Q9Y4F4-3	3

RefSeq proteins (2): NP_001295049, NP_055906 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR034085	TOG	Domain

Pfam: PF21040

UniProt features (45 total): repeat 13, sequence variant 10, region of interest 8, compositionally biased region 6, splice variant 4, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4F4-F1	62.26	0.30

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 351 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_POLYMERIZATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MYCMAX_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, OCT1_03, GOBP_CILIUM_ORGANIZATION

GO Biological Process (6): microtubule cytoskeleton organization (GO:0000226), positive regulation of microtubule polymerization (GO:0031116), axoneme assembly (GO:0035082), cilium assembly (GO:0060271), non-motile cilium assembly (GO:1905515), cell projection organization (GO:0030030)

GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasmic microtubule (GO:0005881), cilium (GO:0005929), axoneme (GO:0005930), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium assembly	2
microtubule	2
cytoskeleton organization	1
microtubule-based process	1
positive regulation of microtubule polymerization or depolymerization	1
regulation of microtubule polymerization	1
positive regulation of protein polymerization	1
microtubule polymerization	1
positive regulation of supramolecular fiber organization	1
microtubule bundle formation	1
cellular component assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
tubulin binding	1
binding	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
ciliary plasm	1
microtubule organizing center	1
cilium	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TOGARAM1	ARMC9	Q7Z3E5	662
TOGARAM1	PRR35	P0CG20	612
TOGARAM1	TMEM260	Q9NX78	601
TOGARAM1	KBTBD12	Q3ZCT8	557
TOGARAM1	CEP104	O60308	544
TOGARAM1	RRP36	Q96EU6	527
TOGARAM1	KLHL28	Q9NXS3	524
TOGARAM1	GOLGA7	Q7Z5G4	514
TOGARAM1	CKAP5	Q14008	507
TOGARAM1	SPMIP7	A4D263	501
TOGARAM1	CEP41	Q9BYV8	499
TOGARAM1	KLHDC8B	Q8IXV7	492
TOGARAM1	KRT81	Q14533	483
TOGARAM1	IHO1	Q8IYA8	476
TOGARAM1	KCNG3	Q8TAE7	474

IntAct

29 interactions, top by confidence:

A	B	Type	Score
ARMC9	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.700
TOGARAM1	ARMC9	psi-mi:“MI:0915”(physical association)	0.700
TOGARAM1	ARMC9	psi-mi:“MI:0403”(colocalization)	0.700
CEP104	CCDC66	psi-mi:“MI:2364”(proximity)	0.540
CEP104	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.540
TOGARAM1	PRKCSH	psi-mi:“MI:0915”(physical association)	0.400
TOGARAM1	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
TOGARAM1	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.400
CCDC66	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.400
CSPP1	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.400
TOGARAM1	CSPP1	psi-mi:“MI:0915”(physical association)	0.400
RPGRIP1L	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.370
TOGARAM1	HTT	psi-mi:“MI:0915”(physical association)	0.370
HTT	TOGARAM1	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350
ESR2		psi-mi:“MI:0914”(association)	0.350
GDI1	U2SURP	psi-mi:“MI:0914”(association)	0.350
PSMB3	PSMD1	psi-mi:“MI:0914”(association)	0.350
ATG16L1		psi-mi:“MI:0914”(association)	0.350
ARMC9	PRMT5	psi-mi:“MI:0914”(association)	0.350
ESR2	PSMD11	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): FAM179B (Biochemical Activity), FAM179B (Proximity Label-MS), FAM179B (Affinity Capture-RNA), FAM179B (Proximity Label-MS), FAM179B (Proximity Label-MS), FAM179B (Proximity Label-MS), FAM179B (Proximity Label-MS), FAM179B (Proximity Label-MS), FAM179B (Proximity Label-MS), FAM179B (Affinity Capture-MS), FAM179B (Affinity Capture-MS), FAM179B (Proximity Label-MS), FAM179B (Affinity Capture-MS), FAM179B (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2AQ14, A5D7N9, A5WW08, A7E316, B1MT51, B2RZC4, B5SNH4, O35144, O43187, O43482, O55036, O70173, P23804, P54274, P70371, Q503I2, Q503Y8, Q5BLK4, Q5F479, Q5PQS0, Q5R810, Q68UT5, Q6IRN0, Q6NYX6, Q6P1H6, Q6P4K6, Q6ZNE5, Q7TP65, Q7TSI1, Q7Z2Z1, Q7Z4M0, Q80VH0, Q80YV2, Q8BQ33, Q8BW88, Q8CAK3, Q8WYP3, Q920I9, Q99LQ1, Q9CWH4

Diamond homologs: Q3TYG6, Q6A070, Q6ZUX3, Q9Y4F4, Q8RWY6, Q17423

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	10
Uncertain significance	245
Likely benign	25
Benign	1

Top pathogenic / likely-pathogenic (17)

Variant ID	HGVS	Classification
4689371	NM_001308120.2(TOGARAM1):c.942del (p.Gln314fs)	Pathogenic
917940	NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)	Pathogenic
979054	NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)	Pathogenic
979055	NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)	Pathogenic
979058	NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)	Pathogenic
984438	NM_001308120.2:c.2339_3238del	Pathogenic
997691	NM_001308120.2(TOGARAM1):c.3619C>T (p.Arg1207Ter)	Pathogenic
1703114	NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)	Likely pathogenic
1703763	NM_001308120.2(TOGARAM1):c.2338+3A>G	Likely pathogenic
2644202	NM_001308120.2(TOGARAM1):c.2329C>T (p.Gln777Ter)	Likely pathogenic
2644203	NM_001308120.2(TOGARAM1):c.2338+1del	Likely pathogenic
3362854	NM_001308120.2(TOGARAM1):c.4969+2T>A	Likely pathogenic
3393417	NM_001308120.2(TOGARAM1):c.76del (p.Ser26fs)	Likely pathogenic
3780727	NM_001308120.2(TOGARAM1):c.3812+1del	Likely pathogenic
3892694	NM_001308120.2(TOGARAM1):c.2501_2504del (p.Ile834fs)	Likely pathogenic
4845913	NM_001308120.2(TOGARAM1):c.1844del (p.Ala615fs)	Likely pathogenic
979056	Single allele	Likely pathogenic

SpliceAI

2961 predictions. Top by Δscore:

Variant	Effect	Δscore
14:44995744:A:AG	acceptor_gain	1.0000
14:44995745:G:GA	acceptor_gain	1.0000
14:44995899:GCTG:G	donor_gain	1.0000
14:44995900:CTGG:C	donor_loss	1.0000
14:44995901:TGGTA:T	donor_loss	1.0000
14:44995902:GGTA:G	donor_loss	1.0000
14:44995903:G:GG	donor_gain	1.0000
14:44995904:T:A	donor_loss	1.0000
14:44995905:AAG:A	donor_loss	1.0000
14:44999357:CAAAA:C	acceptor_loss	1.0000
14:44999361:A:AC	acceptor_loss	1.0000
14:44999497:GGTA:G	donor_gain	1.0000
14:45006117:GGGAA:G	donor_gain	1.0000
14:45009133:G:T	donor_gain	1.0000
14:45009134:G:GT	donor_gain	1.0000
14:45025769:T:TA	acceptor_gain	1.0000
14:45027472:GAT:G	donor_gain	1.0000
14:45028200:A:AG	acceptor_gain	1.0000
14:45028206:A:AG	acceptor_gain	1.0000
14:45028325:TGAAA:T	donor_gain	1.0000
14:45028326:GAAA:G	donor_gain	1.0000
14:45028326:GAAAG:G	donor_gain	1.0000
14:45028327:AAA:A	donor_gain	1.0000
14:45028328:AA:A	donor_gain	1.0000
14:45028329:AGT:A	donor_loss	1.0000
14:45028330:G:GG	donor_gain	1.0000
14:45028330:GTAA:G	donor_loss	1.0000
14:45028331:TAAGT:T	donor_loss	1.0000
14:45032217:TTTTA:T	acceptor_loss	1.0000
14:45032218:TTTA:T	acceptor_loss	1.0000

AlphaMissense

11530 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:45032375:T:A	W1271R	1.000
14:45032375:T:C	W1271R	1.000
14:45043686:G:C	W1271C	1.000
14:45043686:G:T	W1271C	1.000
14:45044663:G:C	R1316P	1.000
14:45044669:C:A	A1318D	1.000
14:45044776:T:C	F1354L	1.000
14:45044778:T:A	F1354L	1.000
14:45044778:T:G	F1354L	1.000
14:45044852:T:C	L1379P	1.000
14:45066693:C:A	R1506S	1.000
14:45066694:G:C	R1506P	1.000
14:45068485:T:C	L1551P	1.000
14:44963545:T:C	L375P	0.999
14:44963977:T:A	L519H	0.999
14:44963977:T:C	L519P	0.999
14:44964001:G:C	R527P	0.999
14:44964018:G:C	A533P	0.999
14:44964157:C:A	P579Q	0.999
14:44964157:C:G	P579R	0.999
14:44964255:T:A	W612R	0.999
14:44964255:T:C	W612R	0.999
14:44964402:T:A	W661R	0.999
14:44964402:T:C	W661R	0.999
14:45043702:G:A	G1277R	0.999
14:45043702:G:C	G1277R	0.999
14:45043706:T:C	L1278P	0.999
14:45043781:T:A	V1303D	0.999
14:45044647:C:A	R1311S	0.999
14:45044657:T:A	V1314D	0.999

dbSNP variants (sampled 300 via entrez): RS1000019977 (14:45003275 A>T), RS1000030748 (14:45053558 A>G), RS1000047015 (14:45074422 T>C,G), RS1000062060 (14:45022305 G>A), RS1000126358 (14:44982642 A>C), RS1000143594 (14:45039872 C>T), RS1000162170 (14:44969734 A>C,G), RS1000182490 (14:45064584 C>G,T), RS1000198348 (14:45003584 A>G,T), RS1000208055 (14:45040043 T>C), RS1000300160 (14:44996817 G>A), RS1000306990 (14:44976302 C>G), RS1000328571 (14:44972609 T>C), RS1000337570 (14:44990895 C>CA), RS1000358724 (14:45058541 C>T)

Disease associations

OMIM: gene MIM:617618 | disease phenotypes: MIM:619185, MIM:616407, MIM:213300

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliopathy	Definitive	Autosomal recessive
Joubert syndrome 37	Strong	Autosomal recessive

Mondo (4): Joubert syndrome 37 (MONDO:0030933), Brown syndrome (MONDO:0014624), ciliopathy (MONDO:0005308), Joubert syndrome (MONDO:0018772)

Orphanet (2): Ciliopathy (Orphanet:363250), Isolated Joubert syndrome (Orphanet:475)

HPO phenotypes

68 total (30 of 68 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000126	Hydronephrosis
HP:0000202	Orofacial cleft
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000276	Long face
HP:0000316	Hypertelorism
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000445	Wide nose
HP:0000463	Anteverted nares
HP:0000475	Broad neck
HP:0000486	Strabismus
HP:0000490	Deeply set eye
HP:0000508	Ptosis
HP:0000568	Microphthalmia
HP:0000612	Iris coloboma
HP:0000639	Nystagmus
HP:0000657	Oculomotor apraxia
HP:0000729	Autistic behavior
HP:0000864	Abnormality of the hypothalamus-pituitary axis
HP:0001161	Hand polydactyly
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia

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

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases expression, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Ozone	affects cotreatment, increases expression, increases abundance	2
Valproic Acid	increases expression, affects expression, decreases methylation	2
Aflatoxin B1	decreases methylation, increases methylation	2
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
nickel sulfate	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
monomethylarsonous acid	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Cyclosporine	increases expression	1
Particulate Matter	decreases expression, increases abundance	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00068224	Not specified	COMPLETED	Clinical and Molecular Investigations Into Ciliopathies
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT03059420	Not specified	RECRUITING	Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study