SHQ1

Summary

SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor, HGNC:25543) is a protein-coding gene on chromosome 3p13, encoding Protein SHQ1 homolog (Q6PI26). Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA. It is a selective cancer dependency (DepMap: 87.0% of cell lines).

SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).

Source: NCBI Gene 55164 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with dystonia and seizures (Strong, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 146 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 33
• Cancer dependency (DepMap): dependent in 87.0% of screened cell lines
• MANE Select transcript: NM_018130

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25543
Approved symbol	SHQ1
Name	SHQ1, H/ACA ribonucleoprotein assembly factor
Location	3p13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10539, Shq1p
Ensembl gene	ENSG00000144736
Ensembl biotype	protein_coding
OMIM	613663
Entrez	55164

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000325599, ENST00000444040, ENST00000463369, ENST00000468347, ENST00000468371, ENST00000471526, ENST00000475558, ENST00000482785, ENST00000936182, ENST00000936183

RefSeq mRNA: 1 — MANE Select: NM_018130 NM_018130

CCDS: CCDS33788

Canonical transcript exons

ENST00000325599 — 11 exons

Exon	Start	End
ENSE00001951098	72848198	72848445
ENSE00003466640	72824424	72824551
ENSE00003493509	72792916	72793036
ENSE00003503503	72841045	72841199
ENSE00003517103	72817230	72817384
ENSE00003580403	72815350	72815403
ENSE00003600360	72844359	72844423
ENSE00003623789	72749277	72750836
ENSE00003625795	72842280	72842402
ENSE00003626232	72812671	72812794
ENSE00003790500	72832369	72832481

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 94.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5946 / max 237.3726, expressed in 1807 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43156	12.1154	1805
43155	0.4792	216

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	94.76	gold quality
male germ cell	CL:0000015	93.42	gold quality
tibia	UBERON:0000979	93.16	gold quality
choroid plexus epithelium	UBERON:0003911	93.01	gold quality
germinal epithelium of ovary	UBERON:0001304	92.99	gold quality
secondary oocyte	CL:0000655	92.89	gold quality
esophagus squamous epithelium	UBERON:0006920	91.82	gold quality
gingival epithelium	UBERON:0001949	91.64	gold quality
squamous epithelium	UBERON:0006914	90.92	gold quality
epithelium of esophagus	UBERON:0001976	90.71	gold quality
oviduct epithelium	UBERON:0004804	90.42	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.04	gold quality
parietal pleura	UBERON:0002400	89.58	gold quality
bronchial epithelial cell	CL:0002328	89.47	gold quality
gingiva	UBERON:0001828	89.47	gold quality
metanephric glomerulus	UBERON:0004736	89.46	gold quality
epithelium of nasopharynx	UBERON:0001951	89.40	gold quality
epithelium of bronchus	UBERON:0002031	89.34	gold quality
renal glomerulus	UBERON:0000074	89.33	gold quality
myocardium	UBERON:0002349	89.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.19	gold quality
epithelial cell of pancreas	CL:0000083	89.12	gold quality
tendon of biceps brachii	UBERON:0008188	89.03	gold quality
bronchus	UBERON:0002185	88.97	gold quality
left ventricle myocardium	UBERON:0006566	88.75	gold quality
corpus epididymis	UBERON:0004359	88.68	gold quality
pleura	UBERON:0000977	88.67	gold quality
visceral pleura	UBERON:0002401	88.52	gold quality
palpebral conjunctiva	UBERON:0001812	88.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.43

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP63

miRNA regulators (miRDB)

48 targeting SHQ1, 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-9-5P	100.00	72.28	2361
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-5571-5P	99.49	66.99	1764

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 87.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• study suggests that GRIM-1 (SHQ1) might act as a co-tumor suppressor in the prostate (PMID:21931644)
• The expression of GRIM-1 and GRP78 was negatively correlated in human non-small cell lung cancer (NSCLC) tissues, and the down-regulation of GRP78 by GRIM-1 provides a possible mechanism for their interaction. (PMID:25081541)
• these results provide insight into the Shq1/dyskerin (Cbf5) interaction that plays a critical role in H/ACA RNP biogenesis and assembly in eukaryotes (PMID:25553844)
• Results from a study on gene expression variability markers in early-stage human embryos shows that SHQ1 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• a mechanism of NOTCH1-SHQ1-MYC axis in T-cell leukemogenesis, is reported. (PMID:30323192)
• SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response. (PMID:32522979)
• Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. (PMID:34542157)
• Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. (PMID:36847845)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	shq1	ENSDARG00000058522
mus_musculus	Shq1	ENSMUSG00000035378
rattus_norvegicus	Shq1	ENSRNOG00000005433
drosophila_melanogaster	CG10055	FBGN0037482
caenorhabditis_elegans		WBGENE00021655

Protein

Protein identifiers

Protein SHQ1 homolog — Q6PI26 (reviewed: Q6PI26)

All UniProt accessions (4): Q6PI26, C9J6N3, F8WBC6, F8WDZ9

UniProt curated annotations — full annotation on UniProt →

Function. Required for the quantitative accumulation of H/ACA ribonucleoproteins (RNPs), including telomerase, probably through the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.

Subunit / interactions. Directly interacts with DKC1 alone, but not in the context of the core trimer composed of DKC1, NOP10 and NHP2, nor in the presence of NAF1. Does not interact with NAF1.

Subcellular location. Cytoplasm. Cytosol. Nucleus. Nucleoplasm.

Disease relevance. Dystonia 35, childhood-onset (DYT35) [MIM:619921] A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life. The disease is caused by variants affecting the gene represented in this entry. Neurodevelopmental disorder with dystonia and seizures (NEDDS) [MIM:619922] An autosomal recessive disorder characterized by global developmental delay, inability to walk or speak, profoundly impaired intellectual development, and early-onset dystonia. Additional features may include other extrapyramidal movements, seizures or seizure-like activity, and cerebellar hypoplasia on brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SHQ1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6PI26-1	1	yes
Q6PI26-2	2

RefSeq proteins (1): NP_060600* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007009	Shq1_C	Domain
IPR007052	CS_dom	Domain
IPR008978	HSP20-like_chaperone	Homologous_superfamily
IPR039742	Shq1	Family
IPR048696	SHQ1-like_CS	Domain

Pfam: PF04925, PF21413

UniProt features (23 total): strand 7, sequence variant 6, sequence conflict 3, region of interest 2, chain 1, domain 1, turn 1, helix 1, splice variant 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4PBD	X-RAY DIFFRACTION	1.68
4PCK	X-RAY DIFFRACTION	2.4
2MNW	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PI26-F1	73.65	0.41

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-171319	Telomere Extension By Telomerase
R-HSA-157579	Telomere Maintenance
R-HSA-1640170	Cell Cycle
R-HSA-180786	Extension of Telomeres
R-HSA-73886	Chromosome Maintenance

MSigDB gene sets: 193 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPID, MATTIOLI_MGUS_VS_PCL, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ANDROGEN_RECEPTOR_SIGNALING_PATHWAY, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, chr3p13, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RESPONSE_TO_STEROID_HORMONE, GOBP_RESPONSE_TO_HORMONE, GOBP_RESPONSE_TO_LIPID, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_CELLULAR_RESPONSE_TO_STEROID_HORMONE_STIMULUS, GATA2_01

GO Biological Process (5): box H/ACA snoRNP assembly (GO:0000493), protein-RNA complex assembly (GO:0022618), regulation of androgen receptor signaling pathway (GO:0060765), telomerase RNA localization to Cajal body (GO:0090671), positive regulation of TORC1 signaling (GO:1904263)

GO Molecular Function (2): obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Extension of Telomeres	1
Chromosome Maintenance	1
Telomere Maintenance	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
small nucleolar ribonucleoprotein complex assembly	1
ribonucleoprotein complex biogenesis	1
protein-containing complex assembly	1
protein-RNA complex organization	1
androgen receptor signaling pathway	1
regulation of intracellular steroid hormone receptor signaling pathway	1
RNA localization to Cajal body	1
telomerase RNA localization	1
positive regulation of TOR signaling	1
TORC1 signaling	1
regulation of TORC1 signaling	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1390 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SHQ1	NHP2	Q9NX24	979
SHQ1	NOP10	Q9NPE3	968
SHQ1	DKC1	O60832	960
SHQ1	GAR1	Q9NY12	898
SHQ1	WRAP53	Q9BUR4	812
SHQ1	HSPB6	O14558	766
SHQ1	RUVBL1	P82276	749
SHQ1	NAF1	Q96HR8	729
SHQ1	NOP58	Q9Y2X3	725
SHQ1	RUVBL2	Q9Y230	690
SHQ1	PIH1D1	Q9NWS0	639
SHQ1	FBL	P22087	626
SHQ1	TERT	O14746	612
SHQ1	RYBP	Q8N488	571
SHQ1	SNU13	P55769	565

IntAct

46 interactions, top by confidence:

A	B	Type	Score
NOP10	DKC1	psi-mi:“MI:0914”(association)	0.890
RUVBL1	ZNHIT1	psi-mi:“MI:0914”(association)	0.860
DKC1	SHQ1	psi-mi:“MI:0915”(physical association)	0.670
DKC1	SHQ1	psi-mi:“MI:0914”(association)	0.670
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
RUVBL1	POLR3A	psi-mi:“MI:0914”(association)	0.640
RUVBL2	POLR3A	psi-mi:“MI:0914”(association)	0.640
CAMKV	AP3B1	psi-mi:“MI:0914”(association)	0.640
FLJ13057	SHQ1	psi-mi:“MI:0915”(physical association)	0.560
GMCL2	SHQ1	psi-mi:“MI:0915”(physical association)	0.560
SHQ1	GMCL2	psi-mi:“MI:0915”(physical association)	0.560
SHQ1	FLJ13057	psi-mi:“MI:0915”(physical association)	0.560
SHQ1	GMCL1	psi-mi:“MI:0915”(physical association)	0.560
KNOP1	DHX15	psi-mi:“MI:0914”(association)	0.530
GAR1	PRMT5	psi-mi:“MI:0914”(association)	0.530
EPB41L1	AP3B1	psi-mi:“MI:0914”(association)	0.530
NAF1	C1orf226	psi-mi:“MI:0914”(association)	0.350
EXOSC4	RPS3	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (59): GMCL1 (Two-hybrid), GMCL1P1 (Two-hybrid), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS), SHQ1 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I6ASZ5, A0JN53, A4IG66, D3Z8X7, D3ZND0, G3X992, O00750, O08836, O70576, P0DKR2, Q15021, Q1JQC5, Q1L5Z9, Q1LWH4, Q1LXZ7, Q2YD98, Q3T1I9, Q3TV65, Q3UJU9, Q4R5Q4, Q5EAU9, Q5JTW2, Q5R6Z1, Q5TC12, Q61249, Q66H15, Q6NY52, Q6P5E6, Q6PBQ2, Q6PI26, Q80TE0, Q80V31, Q80XC6, Q8BIW9, Q8BM55, Q8K2Z4, Q8R3L2, Q8VDP4, Q8WVB6, Q92574

Diamond homologs: A1L1R0, O43076, Q05B18, Q3MHH1, Q6PI26, Q7TMX5, P40486, Q9TYM6, Q9VI74

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
Telomere Extension By Telomerase	5	95.2×	2e-07
rRNA modification in the nucleus and cytosol	5	39.0×	7e-06
Major pathway of rRNA processing in the nucleolus and cytosol	7	18.0×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
chromatin remodeling	5	10.1×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	106
Likely benign	11
Benign	6

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
4583633	NM_018130.3(SHQ1):c.195T>A (p.Tyr65Ter)	Pathogenic
4755531	NM_018130.3(SHQ1):c.332-1G>C	Pathogenic
4073559	NM_018130.3(SHQ1):c.563C>T (p.Ala188Val)	Likely pathogenic

SpliceAI

2746 predictions. Top by Δscore:

Variant	Effect	Δscore
3:72750845:CATTT:C	acceptor_gain	1.0000
3:72750849:T:C	acceptor_gain	1.0000
3:72792909:AACTT:A	donor_loss	1.0000
3:72792910:ACTT:A	donor_loss	1.0000
3:72792911:CTTA:C	donor_loss	1.0000
3:72792912:TTA:T	donor_loss	1.0000
3:72792913:TACT:T	donor_loss	1.0000
3:72792914:A:AC	donor_gain	1.0000
3:72792914:A:C	donor_loss	1.0000
3:72792915:C:CA	donor_gain	1.0000
3:72792915:CTTGA:C	donor_gain	1.0000
3:72792917:TG:T	donor_gain	1.0000
3:72793037:C:CC	acceptor_gain	1.0000
3:72812758:C:CT	acceptor_gain	1.0000
3:72815410:T:C	acceptor_gain	1.0000
3:72815415:T:C	acceptor_gain	1.0000
3:72815415:T:TC	acceptor_gain	1.0000
3:72817223:CACT:C	donor_loss	1.0000
3:72817224:ACTTA:A	donor_loss	1.0000
3:72817227:TAC:T	donor_loss	1.0000
3:72817228:A:AC	donor_gain	1.0000
3:72817228:A:AT	donor_loss	1.0000
3:72817228:ACATT:A	donor_gain	1.0000
3:72817229:C:CC	donor_gain	1.0000
3:72817229:CA:C	donor_gain	1.0000
3:72817229:CATT:C	donor_gain	1.0000
3:72817229:CATTC:C	donor_gain	1.0000
3:72817380:AGACA:A	acceptor_gain	1.0000
3:72817381:GACA:G	acceptor_gain	1.0000
3:72817382:ACA:A	acceptor_gain	1.0000

AlphaMissense

3781 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:72848201:A:G	L47P	0.996
3:72815371:A:C	S305R	0.995
3:72815371:A:T	S305R	0.995
3:72815373:T:G	S305R	0.995
3:72841081:A:C	F150L	0.993
3:72841081:A:T	F150L	0.993
3:72841083:A:G	F150L	0.993
3:72842377:T:A	K78N	0.993
3:72842377:T:G	K78N	0.993
3:72844421:A:G	L49S	0.993
3:72848323:G:C	F6L	0.993
3:72848323:G:T	F6L	0.993
3:72848325:A:G	F6L	0.993
3:72848201:A:T	L47H	0.992
3:72848330:G:T	P4Q	0.992
3:72793012:A:G	L362P	0.991
3:72848208:A:C	Y45D	0.989
3:72792932:A:G	W389R	0.988
3:72792932:A:T	W389R	0.988
3:72848203:A:C	F46L	0.988
3:72848203:A:T	F46L	0.988
3:72848205:A:G	F46L	0.988
3:72848222:A:G	F40S	0.988
3:72792955:A:G	L381P	0.987
3:72848210:G:T	P44Q	0.987
3:72848211:G:A	P44S	0.987
3:72848216:G:T	A42D	0.987
3:72817354:A:G	L253P	0.985
3:72841085:C:T	G149E	0.984
3:72848217:C:G	A42P	0.984

dbSNP variants (sampled 300 via entrez): RS1000078861 (3:72827290 T>C), RS1000106925 (3:72774027 T>A,C), RS1000120115 (3:72816943 G>C), RS1000124401 (3:72843185 A>G), RS1000127011 (3:72731758 T>A,C), RS1000127612 (3:72810187 C>T), RS1000176310 (3:72772364 T>C), RS1000196330 (3:72726606 C>T), RS1000197490 (3:72797546 C>T), RS1000202352 (3:72767787 C>T), RS1000222885 (3:72802152 C>T), RS1000226069 (3:72726305 T>A), RS1000227225 (3:72784123 T>A), RS1000230401 (3:72773376 T>C,G), RS1000325792 (3:72804003 A>G)

Disease associations

OMIM: gene MIM:613663 | disease phenotypes: MIM:619921, MIM:619922

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with dystonia and seizures	Strong	Autosomal recessive

Mondo (2): dystonia 35, childhood-onset (MONDO:0030958), neurodevelopmental disorder with dystonia and seizures (MONDO:0859258)

Orphanet (0):

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000739	Anxiety
HP:0000975	Hyperhidrosis
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001276	Hypertonia
HP:0001288	Gait disturbance
HP:0001321	Cerebellar hypoplasia
HP:0001332	Dystonia
HP:0001344	Absent speech
HP:0001511	Intrauterine growth retardation
HP:0001558	Decreased fetal movement
HP:0001608	Abnormality of the voice
HP:0002019	Constipation
HP:0002072	Chorea
HP:0002119	Ventriculomegaly
HP:0002120	Cerebral cortical atrophy
HP:0002305	Athetosis
HP:0002510	Spastic tetraplegia
HP:0003011	Abnormality of the musculature
HP:0003593	Infantile onset
HP:0005968	Temperature instability
HP:0010852	EEG with photoparoxysmal response
HP:0011461	Fetal onset
HP:0011968	Feeding difficulties
HP:0031358	Vegetative state
HP:0033258	Sudden unexpected death in epilepsy

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST009379_255	Type 2 diabetes	2.000000e-08
GCST009391_529	Metabolite levels	2.000000e-09
GCST009391_539	Metabolite levels	5.000000e-06
GCST009391_682	Metabolite levels	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010528	quinolinic acid measurement
EFO:0008529	kynurenine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	6
sodium arsenite	increases expression, decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	increases abundance, increases expression	1
benzo(e)pyrene	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acrolein	increases oxidation, increases abundance, affects cotreatment	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Methapyrilene	decreases methylation	1
Ozone	increases oxidation, increases abundance, affects cotreatment	1
Phthalic Acids	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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