GTPBP1

Summary

GTPBP1 (GTP binding protein 1, HGNC:4669) is a protein-coding gene on chromosome 22q13.1, encoding GTP-binding protein 1 (O00178). GTPase that plays a role in the elongation phase of protein synthesis by forming ternary complexes with GTP and aminoacyl-transfer RNAs (aa-tRNAs), and delivering aa-tRNAs to the ribosomal A site in a GTP-dependent manner.

This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype.

Source: NCBI Gene 9567 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (Strong, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 397 total — 3 pathogenic
• Phenotypes (HPO): 40
• MANE Select transcript: NM_004286

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4669
Approved symbol	GTPBP1
Name	GTP binding protein 1
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Aliases	GP-1, HSPC018
Ensembl gene	ENSG00000100226
Ensembl biotype	protein_coding
OMIM	602245
Entrez	9567

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000216044, ENST00000418601, ENST00000458073, ENST00000460605, ENST00000461428, ENST00000462332, ENST00000470836, ENST00000475959, ENST00000484657, ENST00000484971, ENST00000487538, ENST00000488787, ENST00000489527, ENST00000870600, ENST00000870601, ENST00000870602, ENST00000870603, ENST00000915793, ENST00000960413

RefSeq mRNA: 1 — MANE Select: NM_004286 NM_004286

CCDS: CCDS13977

Canonical transcript exons

ENST00000216044 — 12 exons

Exon	Start	End
ENSE00000654499	38726258	38726440
ENSE00000654507	38727213	38727348
ENSE00001353504	38729462	38729662
ENSE00001353506	38727983	38728161
ENSE00001379047	38730612	38733587
ENSE00001628104	38721742	38721865
ENSE00001709075	38724297	38724411
ENSE00001840100	38705944	38706147
ENSE00003493519	38715907	38716087
ENSE00003511362	38716652	38717000
ENSE00003543206	38708845	38708956
ENSE00003646640	38726006	38726150

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 95.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.9237 / max 538.5902, expressed in 1819 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192273	32.5063	1819
192272	0.2368	105
192271	0.1068	52
192274	0.0737	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.28	gold quality
mucosa of stomach	UBERON:0001199	94.10	gold quality
ventricular zone	UBERON:0003053	93.87	gold quality
ganglionic eminence	UBERON:0004023	93.72	gold quality
right uterine tube	UBERON:0001302	93.64	gold quality
left lobe of thyroid gland	UBERON:0001120	92.95	gold quality
skin of leg	UBERON:0001511	92.83	gold quality
cortical plate	UBERON:0005343	92.78	gold quality
popliteal artery	UBERON:0002250	92.76	gold quality
tibial artery	UBERON:0007610	92.75	gold quality
left ovary	UBERON:0002119	92.66	gold quality
right lung	UBERON:0002167	92.57	gold quality
right lobe of thyroid gland	UBERON:0001119	92.53	gold quality
upper lobe of left lung	UBERON:0008952	92.48	gold quality
skin of abdomen	UBERON:0001416	92.25	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.21	gold quality
lower esophagus	UBERON:0013473	92.18	gold quality
aorta	UBERON:0000947	92.17	gold quality
thyroid gland	UBERON:0002046	92.13	gold quality
adenohypophysis	UBERON:0002196	92.11	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.10	gold quality
blood	UBERON:0000178	91.98	gold quality
right ovary	UBERON:0002118	91.92	gold quality
granulocyte	CL:0000094	91.67	gold quality
parotid gland	UBERON:0001831	91.62	silver quality
bone marrow cell	CL:0002092	91.60	gold quality
ascending aorta	UBERON:0001496	91.60	gold quality
colonic epithelium	UBERON:0000397	91.58	gold quality
thoracic aorta	UBERON:0001515	91.57	gold quality
ectocervix	UBERON:0012249	91.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.55

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YBX3

miRNA regulators (miRDB)

149 targeting GTPBP1, 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-8485	100.00	77.57	4731
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-548J-3P	99.94	72.61	4881

Literature-anchored findings (GeneRIF, showing 2)

• GTPBP1 possesses eEF1A-like elongation activity, delivering cognate aminoacyl-transfer RNA to the ribosomal A site in a GTP-dependent manner. It also stimulates exosomal degradation of mRNAs in elongation complexes. (PMID:30108131)
• Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. (PMID:38118446)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gtpbp1l	ENSDARG00000042900
danio_rerio	gtpbp1	ENSDARG00000053467
mus_musculus	Gtpbp1	ENSMUSG00000042535
rattus_norvegicus	Gtpbp1	ENSRNOG00000014634
drosophila_melanogaster	Dgp-1	FBGN0027836
caenorhabditis_elegans		WBGENE00000480

Paralogs (18): MTIF2 (ENSG00000085760), EEF1A2 (ENSG00000101210), GSPT1 (ENSG00000103342), EFTUD2 (ENSG00000108883), HBS1L (ENSG00000112339), EIF2S3 (ENSG00000130741), EEFSEC (ENSG00000132394), EFL1 (ENSG00000140598), GUF1 (ENSG00000151806), EEF1A1 (ENSG00000156508), EIF5B (ENSG00000158417), GFM2 (ENSG00000164347), EEF2 (ENSG00000167658), GFM1 (ENSG00000168827), GTPBP2 (ENSG00000172432), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)

Protein

Protein identifiers

GTP-binding protein 1 — O00178 (reviewed: O00178)

All UniProt accessions (8): O00178, B0QY59, F5H257, F5H716, F5H7C0, F8WAZ4, H0YF75, H0YGA8

UniProt curated annotations — full annotation on UniProt →

Function. GTPase that plays a role in the elongation phase of protein synthesis by forming ternary complexes with GTP and aminoacyl-transfer RNAs (aa-tRNAs), and delivering aa-tRNAs to the ribosomal A site in a GTP-dependent manner. Is also able to deliver deacylated tRNA to the A site. Additionally, it is involved in RNA quality control; after GTP hydrolysis, which is not immediately followed by rapid peptide bond formation, GTPBP1 likely retains aa-tRNA in the A site and promotes exosomal degradation of faulty mRNAs engaged in 80S elongation complexes. Plays a role in the regulation of circadian mRNA stability.

Subunit / interactions. Form complexes with GTP and aa-tRNAs; aa-tRNA binding stabilizes GTP binding and stimulates GTP hydrolysis. Interacts with EXOSC2/RRP4, EXOSC3/RRP40, EXOSC5/RRP46, HNRNPD, HNRNPR and SYNCRIP. Identified in a complex with AANAT mRNA, but does not bind mRNA by itself.

Subcellular location. Cytoplasm.

Disease relevance. Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (NEDFET1) [MIM:620888] An autosomal recessive disorder characterized by microcephaly, profound neurodevelopmental impairment, distinctive craniofacial features, ectodermal defects, and tetraparesis. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily.

RefSeq proteins (1): NP_004277* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000795	T_Tr_GTP-bd_dom	Domain
IPR004161	EFTu-like_2	Domain
IPR009000	Transl_B-barrel_sf	Homologous_superfamily
IPR009001	Transl_elong_EF1A/Init_IF2_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035531	GTPBP1-like	Domain
IPR050055	EF-Tu_GTPase	Family

Pfam: PF00009, PF03144

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (27 total): modified residue 9, region of interest 7, sequence variant 4, binding site 3, compositionally biased region 2, chain 1, domain 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9YPW	ELECTRON MICROSCOPY	2.9
9YPG	ELECTRON MICROSCOPY	3
9YPO	ELECTRON MICROSCOPY	3
9YPS	ELECTRON MICROSCOPY	3
9YPV	ELECTRON MICROSCOPY	3
9YPT	ELECTRON MICROSCOPY	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00178-F1	78.81	0.54

Functional residue map

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

Ligand- & substrate-binding residues (3): 167–174; 252–256; 308–311

Post-translational modifications (9): 6, 8, 12, 24, 25, 44, 47, 69, 580

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): cytoplasmic translation (GO:0002181), translational elongation (GO:0006414), immune response (GO:0006955), signal transduction (GO:0007165), GTP metabolic process (GO:0046039), positive regulation of mRNA catabolic process (GO:0061014), RNA surveillance (GO:0071025)

GO Molecular Function (8): tRNA binding (GO:0000049), RNA binding (GO:0003723), translation elongation factor activity (GO:0003746), GTPase activity (GO:0003924), GTP binding (GO:0005525), alpha-aminoacyl-tRNA binding (GO:1904678), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (4): cytoplasmic exosome (RNase complex) (GO:0000177), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
translation	2
RNA binding	2
cytoplasm	2
macromolecule biosynthetic process	1
immune system process	1
response to stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
mRNA catabolic process	1
positive regulation of catabolic process	1
regulation of mRNA catabolic process	1
positive regulation of mRNA metabolic process	1
RNA catabolic process	1
nucleic acid binding	1
translational elongation	1
translation factor activity	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
exosome (RNase complex)	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1048 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GTPBP1	GP2	P55259	999
GTPBP1	NPC1	O15118	994
GTPBP1	GP5	P40197	950
GTPBP1	DAG1	Q14118	926
GTPBP1	GP9	P14770	918
GTPBP1	TFRC	P02786	859
GTPBP1	GP6	Q9HCN6	851
GTPBP1	CD36	P16671	829
GTPBP1	PCDH7	O60245	825
GTPBP1	CLEC4M	Q9H2X3	814
GTPBP1	CD209	Q9NNX6	786
GTPBP1	ITGA2B	P08514	780
GTPBP1	LAMP1	P11279	755
GTPBP1	S100A10	P08206	733
GTPBP1	MBTPS1	Q14703	704

IntAct

80 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
GTPBP1	C7orf25	psi-mi:“MI:0915”(physical association)	0.560
VASP	GTPBP1	psi-mi:“MI:0914”(association)	0.530
RAB17	GTPBP1	psi-mi:“MI:0914”(association)	0.530
CORO1C	GTPBP1	psi-mi:“MI:0914”(association)	0.530
SNRNP70	GTPBP1	psi-mi:“MI:0914”(association)	0.530
MINK1	CNOT1	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
DUSP19	GTPBP1	psi-mi:“MI:0915”(physical association)	0.400
Rpl35	RPS6	psi-mi:“MI:0914”(association)	0.350
Cit	GTPBP1	psi-mi:“MI:0914”(association)	0.350
Gspt1	MRPL27	psi-mi:“MI:0914”(association)	0.350
CHAMP1	GTPBP1	psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
Eif3e	RPSA	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
ORF57	GTPBP1	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350

BioGRID (152): GTPBP1 (Affinity Capture-MS), GTPBP1 (Affinity Capture-MS), GTPBP1 (Affinity Capture-MS), GTPBP1 (Affinity Capture-MS), EIF2S3 (Co-fractionation), GTPBP1 (Co-fractionation), GTPBP1 (Co-fractionation), PRC1 (Co-fractionation), GTPBP1 (Affinity Capture-MS), GTPBP1 (Reconstituted Complex), GTPBP1 (Proximity Label-MS), GTPBP1 (Proximity Label-MS), GTPBP1 (Proximity Label-MS), GTPBP1 (Proximity Label-MS), GTPBP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A7C9FSB8, A2TLM1, A6H7H7, B8BKI7, B9N1F9, B9SQI7, D2XV59, E0CSI1, F1N9S8, O00178, O08582, O35586, O35760, O48964, O48965, O76031, O81770, P11029, P11497, P58044, P69341, Q0J035, Q13085, Q13907, Q14165, Q1LZ95, Q1LZ96, Q28559, Q2R483, Q38929, Q39471, Q39472, Q39664, Q3UMR5, Q42553, Q4R4W5, Q5NVE1, Q5R8R6, Q5SWU9, Q5U2U0

Diamond homologs: D2XV59, O00178, O08582, Q17045, Q18905, Q3UJK4, Q58DC5, Q5R8Q7, Q5UR72, Q5XGS8, Q9BX10, Q5NZS1, Q5UR71

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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
mRNA Splicing	5	11.0×	8e-03
Metabolism of RNA	9	7.5×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	7	8.6×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	238
Likely benign	105
Benign	16

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
3338050	NM_004286.5(GTPBP1):c.1527C>G (p.Tyr509Ter)	Pathogenic
3338051	NM_004286.5(GTPBP1):c.1663C>T (p.Gln555Ter)	Pathogenic
3338052	NM_004286.5(GTPBP1):c.622A>G (p.Thr208Ala)	Pathogenic

SpliceAI

3011 predictions. Top by Δscore:

Variant	Effect	Δscore
22:38706143:GCAAG:G	donor_gain	1.0000
22:38706146:AGGT:A	donor_loss	1.0000
22:38706147:GGT:G	donor_loss	1.0000
22:38706149:T:A	donor_loss	1.0000
22:38715902:ACCAG:A	acceptor_loss	1.0000
22:38715903:CCAGA:C	acceptor_loss	1.0000
22:38715904:CAG:C	acceptor_loss	1.0000
22:38715905:A:AG	acceptor_gain	1.0000
22:38715905:AGAT:A	acceptor_gain	1.0000
22:38715905:AGATG:A	acceptor_gain	1.0000
22:38715906:G:GG	acceptor_gain	1.0000
22:38715906:GATG:G	acceptor_gain	1.0000
22:38715906:GATGG:G	acceptor_gain	1.0000
22:38716084:TCAG:T	donor_loss	1.0000
22:38716085:CAGG:C	donor_loss	1.0000
22:38716087:GGTGA:G	donor_loss	1.0000
22:38717000:GGTG:G	donor_loss	1.0000
22:38717001:G:GC	donor_loss	1.0000
22:38717002:T:A	donor_loss	1.0000
22:38721737:GGCAG:G	acceptor_loss	1.0000
22:38721738:GCAGG:G	acceptor_loss	1.0000
22:38721739:CA:C	acceptor_loss	1.0000
22:38721740:A:T	acceptor_loss	1.0000
22:38721741:G:GT	acceptor_loss	1.0000
22:38721862:CAAGG:C	donor_loss	1.0000
22:38721863:AAGG:A	donor_loss	1.0000
22:38721864:AGGTA:A	donor_loss	1.0000
22:38721867:T:G	donor_loss	1.0000
22:38724294:A:AG	acceptor_gain	1.0000
22:38724295:A:G	acceptor_gain	1.0000

AlphaMissense

4374 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:38708945:G:A	G98E	1.000
22:38715948:T:C	S116P	1.000
22:38716045:T:C	L148P	1.000
22:38716051:G:C	R150P	1.000
22:38716074:T:C	F158L	1.000
22:38716076:C:A	F158L	1.000
22:38716076:C:G	F158L	1.000
22:38716087:G:T	R162M	1.000
22:38716657:C:A	A164E	1.000
22:38716665:G:C	G167R	1.000
22:38716665:G:T	G167C	1.000
22:38716666:G:A	G167D	1.000
22:38716666:G:T	G167V	1.000
22:38716670:C:A	N168K	1.000
22:38716670:C:G	N168K	1.000
22:38716674:G:C	D170H	1.000
22:38716675:A:G	D170G	1.000
22:38716675:A:T	D170V	1.000
22:38716677:G:C	A171P	1.000
22:38716678:C:A	A171D	1.000
22:38716680:G:A	G172S	1.000
22:38716680:G:C	G172R	1.000
22:38716680:G:T	G172C	1.000
22:38716681:G:A	G172D	1.000
22:38716681:G:T	G172V	1.000
22:38716683:A:C	K173Q	1.000
22:38716684:A:T	K173I	1.000
22:38716685:A:C	K173N	1.000
22:38716685:A:T	K173N	1.000
22:38716686:A:C	S174R	1.000

dbSNP variants (sampled 300 via entrez): RS1000037756 (22:38704082 G>C), RS1000053813 (22:38710672 G>A), RS1000106995 (22:38718071 C>T), RS1000202680 (22:38729356 A>G), RS1000316859 (22:38720382 G>A), RS1000349822 (22:38711941 T>A,C), RS1000371829 (22:38741312 G>C), RS1000444953 (22:38705743 A>G), RS1000536773 (22:38736723 C>T), RS1000600280 (22:38735562 G>A), RS1000963457 (22:38724574 C>T), RS1000973831 (22:38731001 C>A,G,T), RS1001033527 (22:38715361 C>T), RS1001205215 (22:38718821 A>G), RS1001253275 (22:38709337 G>A)

Disease associations

OMIM: gene MIM:602245 | disease phenotypes: MIM:310300, MIM:620888

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1	Strong	Autosomal recessive

Mondo (2): Emery-Dreifuss muscular dystrophy (MONDO:0016830), neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 (MONDO:0975745)

Orphanet (1): Emery-Dreifuss muscular dystrophy (Orphanet:261)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000158	Macroglossia
HP:0000280	Coarse facial features
HP:0000293	Full cheeks
HP:0000341	Narrow forehead
HP:0000348	High forehead
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000653	Sparse eyelashes
HP:0000729	Autistic behavior
HP:0000768	Pectus carinatum
HP:0001182	Tapered finger
HP:0001250	Seizure
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0001377	Limited elbow extension
HP:0001761	Pes cavus
HP:0001763	Pes planus
HP:0002015	Dysphagia
HP:0002273	Tetraparesis
HP:0002299	Brittle hair
HP:0002378	Hand tremor
HP:0002650	Scoliosis
HP:0003066	Limited knee extension
HP:0003429	CNS hypomyelination
HP:0003487	Babinski sign
HP:0003577	Congenital onset
HP:0008070	Sparse hair

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003818_40	Resting heart rate	5.000000e-16
GCST005830_63	Hand grip strength	2.000000e-08
GCST006479_71	Diverticular disease	8.000000e-07
GCST007561_72	Sleep duration	4.000000e-08
GCST007615_49	C-reactive protein levels	7.000000e-12
GCST010241_220	Apolipoprotein A1 levels	2.000000e-09
GCST012227_1120	Hip circumference adjusted for BMI	9.000000e-12
GCST90002396_92	Mean reticulocyte volume	5.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0006941	grip strength measurement
EFO:0009959	diverticular disease
EFO:0004458	C-reactive protein measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020389	Muscular Dystrophy, Emery-Dreifuss	C05.651.534.500.350; C10.668.491.175.500.350; C16.320.322.625; C16.320.577.350

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
Valproic Acid	decreases expression, affects cotreatment	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases methylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
coumarin	decreases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases methylation	1
Bortezomib	decreases expression	1
Decitabine	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Leflunomide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Vehicle Emissions	decreases expression, increases abundance	1
Cadmium	increases expression, increases abundance	1
Caffeine	affects phosphorylation	1
Cytarabine	increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ethyl Methanesulfonate	increases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01403402	Not specified	RECRUITING	Congenital Muscle Disease Study of Patient and Family Reported Medical Information