GTPBP2

Summary

GTPBP2 (GTP binding protein 2, HGNC:4670) is a protein-coding gene on chromosome 6p21.1, encoding GTP-binding protein 2 (Q9BX10). Involved in the rescue of ribosome stalling due to the presence of non-functional tRNA.

GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.

Source: NCBI Gene 54676 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Jaberi-Elahi syndrome (Definitive, ClinGen)
• GWAS associations: 5
• Clinical variants (ClinVar): 207 total — 9 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 139
• MANE Select transcript: NM_019096

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4670
Approved symbol	GTPBP2
Name	GTP binding protein 2
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172432
Ensembl biotype	protein_coding
OMIM	607434
Entrez	54676

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000307114, ENST00000307126, ENST00000419497, ENST00000432918, ENST00000442748, ENST00000452781, ENST00000459959, ENST00000476510, ENST00000480263, ENST00000496137, ENST00000935237, ENST00000950923

RefSeq mRNA: 2 — MANE Select: NM_019096 NM_001286216, NM_019096

CCDS: CCDS4903, CCDS69124

Canonical transcript exons

ENST00000307126 — 12 exons

Exon	Start	End
ENSE00003463453	43623737	43623795
ENSE00003514553	43626922	43626948
ENSE00003528439	43624888	43625062
ENSE00003547442	43622633	43622804
ENSE00003601104	43625756	43625864
ENSE00003641992	43626226	43626410
ENSE00003657196	43622003	43622167
ENSE00003681560	43620494	43621790
ENSE00003688887	43624510	43624729
ENSE00003690802	43623933	43624068
ENSE00003788164	43625363	43625560
ENSE00003849529	43628977	43629264

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 97.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4192 / max 407.3918, expressed in 1821 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73710	26.2487	1820
73709	1.6311	802
73707	1.1850	340
73708	0.3544	147

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	97.87	gold quality
right lobe of thyroid gland	UBERON:0001119	96.39	gold quality
left lobe of thyroid gland	UBERON:0001120	96.30	gold quality
mucosa of transverse colon	UBERON:0004991	96.06	gold quality
minor salivary gland	UBERON:0001830	95.86	gold quality
adenohypophysis	UBERON:0002196	95.76	gold quality
upper lobe of left lung	UBERON:0008952	95.39	gold quality
esophagus mucosa	UBERON:0002469	95.35	gold quality
granulocyte	CL:0000094	95.20	gold quality
right lung	UBERON:0002167	95.03	gold quality
transverse colon	UBERON:0001157	94.83	gold quality
mucosa of stomach	UBERON:0001199	94.83	gold quality
monocyte	CL:0000576	94.81	gold quality
body of pancreas	UBERON:0001150	94.78	gold quality
thyroid gland	UBERON:0002046	94.76	gold quality
stromal cell of endometrium	CL:0002255	94.71	gold quality
metanephros cortex	UBERON:0010533	94.65	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.61	gold quality
body of stomach	UBERON:0001161	94.54	gold quality
omental fat pad	UBERON:0010414	94.52	gold quality
peritoneum	UBERON:0002358	94.50	gold quality
esophagus	UBERON:0001043	94.41	gold quality
sural nerve	UBERON:0015488	94.29	gold quality
mononuclear cell	CL:0000842	94.23	gold quality
saliva-secreting gland	UBERON:0001044	94.19	gold quality
ectocervix	UBERON:0012249	94.17	gold quality
pituitary gland	UBERON:0000007	94.13	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.03	gold quality
endocervix	UBERON:0000458	94.02	gold quality
leukocyte	CL:0000738	94.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-75367	yes	1549.19
E-ANND-3	yes	3.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

107 targeting GTPBP2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-6739-5P	99.80	67.87	2806

Literature-anchored findings (GeneRIF, showing 5)

• It may be a novel neurodegeneration with brain iron accumulation gene. (PMID:26675814)
• Biallelic inactivating variants in the GTPBP2 were identified in two patients with severe intellectual disability and structural brain abnormalities. (PMID:29449720)
• GTPBP2 lacked elongation activity and did not stimulate exosomal degradation, indicating that GTPBP1 and GTPBP2 have different functions. (PMID:30108131)
• prenatal and neonatal findings as well as the first Caucasian and black African families with GTPBP2 biallelic variants, are reported. (PMID:30790272)
• Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. (PMID:38118446)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gtpbp2b	ENSDARG00000071059
mus_musculus	Gtpbp2	ENSMUSG00000023952
rattus_norvegicus	Gtpbp2	ENSRNOG00000019332
drosophila_melanogaster	CG2017	FBGN0037391
caenorhabditis_elegans		WBGENE00011449

Paralogs (18): MTIF2 (ENSG00000085760), GTPBP1 (ENSG00000100226), 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), TUFM (ENSG00000178952), EIF2S3B (ENSG00000180574), GSPT2 (ENSG00000189369)

Protein

Protein identifiers

GTP-binding protein 2 — Q9BX10 (reviewed: Q9BX10)

All UniProt accessions (6): Q9BX10, H0Y4M5, H0Y5J1, H0Y7A5, H0YF05, X6RJ09

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the rescue of ribosome stalling due to the presence of non-functional tRNA. Has very low GTP-binding activity.

Subunit / interactions. Interacts with PELO.

Tissue specificity. Predominantly expressed in thymus, spleen, and testis. Expressed at lower levels in brain, lung, kidney, and ovary.

Disease relevance. Jaberi-Elahi syndrome (JABELS) [MIM:617988] An autosomal recessive disorder characterized by developmental delay and intellectual disability. Additional variable features include ataxic gait and abnormal movements, visual impairment, microcephaly, abnormal foot or hand posturing, kyphoscoliosis, dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.

Induction. Up-regulated by IFNG/IFN-gamma in human monocytic cell line THP-1.

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

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BX10-1	1	yes
Q9BX10-2	2
Q9BX10-3	3
Q9BX10-4	4

RefSeq proteins (2): NP_001273145, NP_061969* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000795	T_Tr_GTP-bd_dom	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

UniProt features (24 total): sequence variant 12, binding site 3, splice variant 3, sequence conflict 2, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BX10-F1	83.93	0.47

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): 179–186; 260–264; 316–319

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation

MSigDB gene sets: 537 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, ATACCTC_MIR202, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GGAMTNNNNNTCCY_UNKNOWN, CAGCTG_AP4_Q5, GOBP_TRANSLATION, BILD_HRAS_ONCOGENIC_SIGNATURE, AP1_Q4_01, TGANTCA_AP1_C

GO Biological Process (3): translational elongation (GO:0006414), nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966), rescue of stalled cytosolic ribosome (GO:0072344)

GO Molecular Function (6): GTPase activity (GO:0003924), GTP binding (GO:0005525), identical protein binding (GO:0042802), alpha-aminoacyl-tRNA binding (GO:1904678), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), platelet alpha granule lumen (GO:0031093)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translation	1
macromolecule biosynthetic process	1
nuclear-transcribed mRNA catabolic process	1
cytoplasmic translational elongation	1
ribosome disassembly	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
RNA binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
cellular anatomical structure	1
platelet alpha granule	1
secretory granule lumen	1

Protein interactions and networks

STRING

706 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GTPBP2	PCDH7	O60245	827
GTPBP2	MRRF	Q96E11	751
GTPBP2	PELO	Q9BRX2	718
GTPBP2	DCAF17	Q5H9S7	701
GTPBP2	HBS1L	Q9Y450	642
GTPBP2	NEMF	O60524	620
GTPBP2	COASY	Q13057	572
GTPBP2	LTN1	O94822	542
GTPBP2	REPS1	Q96D71	541
GTPBP2	AP4M1	O00189	494
GTPBP2	C19orf12	Q9NSK7	483
GTPBP2	TMEM268	Q5VZI3	456
GTPBP2	PANK2	Q9BZ23	443
GTPBP2	WDR45	Q9Y484	432
GTPBP2	FA2H	Q7L5A8	422

IntAct

74 interactions, top by confidence:

A	B	Type	Score
IFI30	DAPK1	psi-mi:“MI:0914”(association)	0.730
RNASE3	GGPS1	psi-mi:“MI:0914”(association)	0.640
GTPBP2	GPN3	psi-mi:“MI:0915”(physical association)	0.560
GTPBP2	PICK1	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	GTPBP2	psi-mi:“MI:0915”(physical association)	0.560
GTPBP2	GTPBP2	psi-mi:“MI:0915”(physical association)	0.560
TXN2	GTPBP2	psi-mi:“MI:0915”(physical association)	0.560
SNRNP70	GTPBP2	psi-mi:“MI:0915”(physical association)	0.560
CLK2	GTPBP2	psi-mi:“MI:0915”(physical association)	0.560
GTPBP2	NXF1	psi-mi:“MI:0915”(physical association)	0.560
GTPBP2	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
PLEKHO1	UBA6	psi-mi:“MI:0914”(association)	0.530
IFI30	PRC1	psi-mi:“MI:0914”(association)	0.530
IGFBP1	SUSD5	psi-mi:“MI:0914”(association)	0.530
UBE3D	STIP1	psi-mi:“MI:0914”(association)	0.530
CHRM3	PLD2	psi-mi:“MI:0914”(association)	0.530
GTPBP2	SUV39H1	psi-mi:“MI:0915”(physical association)	0.510
KDM1A	GTPBP2	psi-mi:“MI:0915”(physical association)	0.510
PRMT6	GTPBP2	psi-mi:“MI:0915”(physical association)	0.510
GTPBP2	PRMT5	psi-mi:“MI:0915”(physical association)	0.510
GTPBP2	KDM1A	psi-mi:“MI:0915”(physical association)	0.510
PRMT5	GTPBP2	psi-mi:“MI:0915”(physical association)	0.510
GTPBP2	PRMT6	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (80): GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS), GTPBP2 (Affinity Capture-MS)

ESM2 similar proteins: A1L0Y2, A2ALK8, A2ARP1, A2Z8S0, A4IFG2, A8XT88, B1AVZ0, B3M1E1, B3P4N5, B4GZ20, B4HJC0, B4KA23, B4LVS8, B4NKI9, B4PVH6, B4QVW6, M9MRI4, O35242, O76050, P0C644, P26045, Q18223, Q29B63, Q29RQ5, Q3MHZ2, Q3UJK4, Q571F5, Q5M870, Q5NCX5, Q5PQR3, Q5R881, Q6PFW1, Q6PJ21, Q75G68, Q8BVR6, Q8C726, Q8CJC5, Q8R516, Q91YL3, Q91ZY8

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	2
Uncertain significance	72
Likely benign	89
Benign	16

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1333277	NM_019096.5(GTPBP2):c.1053_1054del (p.Glu352fs)	Pathogenic
1705263	NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter)	Pathogenic
1705264	NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter)	Pathogenic
1994630	NM_019096.5(GTPBP2):c.589dup (p.Leu197fs)	Pathogenic
2412595	NM_019096.5(GTPBP2):c.8C>A (p.Ser3Ter)	Pathogenic
544686	NM_019096.5(GTPBP2):c.1237-1G>T	Pathogenic
544687	NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter)	Pathogenic
544688	NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter)	Pathogenic
544689	NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter)	Pathogenic
1324518	NM_019096.5(GTPBP2):c.1187_1188insT (p.Asn397fs)	Likely pathogenic
974842	NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)	Likely pathogenic

SpliceAI

2465 predictions. Top by Δscore:

Variant	Effect	Δscore
6:43610550:ACAG:A	acceptor_loss	1.0000
6:43610552:A:AG	acceptor_gain	1.0000
6:43610552:A:G	acceptor_loss	1.0000
6:43610553:G:GG	acceptor_gain	1.0000
6:43610553:GA:G	acceptor_gain	1.0000
6:43610553:GAAT:G	acceptor_gain	1.0000
6:43610719:GAATG:G	donor_gain	1.0000
6:43610721:ATG:A	donor_gain	1.0000
6:43610721:ATGG:A	donor_loss	1.0000
6:43610722:TG:T	donor_gain	1.0000
6:43610722:TGGT:T	donor_loss	1.0000
6:43610723:GG:G	donor_gain	1.0000
6:43610724:G:GG	donor_gain	1.0000
6:43610724:GTGA:G	donor_loss	1.0000
6:43610725:T:A	donor_loss	1.0000
6:43622163:ATGCC:A	acceptor_gain	1.0000
6:43622164:TGCC:T	acceptor_gain	1.0000
6:43622165:GCC:G	acceptor_gain	1.0000
6:43622166:CC:C	acceptor_gain	1.0000
6:43622166:CCC:C	acceptor_gain	1.0000
6:43622167:CC:C	acceptor_gain	1.0000
6:43622168:C:A	acceptor_loss	1.0000
6:43622168:C:CC	acceptor_gain	1.0000
6:43622168:C:T	acceptor_gain	1.0000
6:43622169:T:C	acceptor_loss	1.0000
6:43622801:CCCA:C	acceptor_gain	1.0000
6:43622802:CCA:C	acceptor_gain	1.0000
6:43622802:CCAC:C	acceptor_gain	1.0000
6:43622803:CAC:C	acceptor_gain	1.0000
6:43622805:C:CC	acceptor_gain	1.0000

AlphaMissense

3891 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:43625426:C:A	E214D	1.000
6:43625426:C:G	E214D	1.000
6:43625427:T:A	E214V	1.000
6:43625463:C:T	G202D	1.000
6:43625464:C:G	G202R	1.000
6:43625476:C:G	D198H	1.000
6:43625517:C:T	G184E	1.000
6:43625532:C:T	G179E	1.000
6:43625533:C:A	G179W	1.000
6:43625533:C:G	G179R	1.000
6:43625533:C:T	G179R	1.000
6:43625778:C:G	R162P	1.000
6:43626256:G:C	S123W	1.000
6:43626283:C:T	G114E	1.000
6:43626284:C:G	G114R	1.000
6:43626284:C:T	G114R	1.000
6:43626295:C:A	G110V	1.000
6:43626295:C:T	G110E	1.000
6:43626296:C:A	G110W	1.000
6:43626296:C:G	G110R	1.000
6:43626296:C:T	G110R	1.000
6:43626301:T:A	D108V	1.000
6:43626301:T:G	D108A	1.000
6:43626302:C:G	D108H	1.000
6:43626310:C:T	G105E	1.000
6:43626311:C:A	G105W	1.000
6:43626311:C:G	G105R	1.000
6:43626311:C:T	G105R	1.000
6:43626320:A:C	Y102D	1.000
6:43626326:C:G	A100P	1.000

dbSNP variants (sampled 300 via entrez): RS1000352772 (6:43620539 A>G), RS1001343988 (6:43632143 G>A), RS1001367651 (6:43626453 C>T), RS1001376300 (6:43631528 G>A), RS1002136759 (6:43625676 T>C), RS1002270985 (6:43625310 T>C), RS1002698286 (6:43632501 C>T), RS1003023092 (6:43621519 A>G), RS1003040701 (6:43629738 G>A), RS1003318743 (6:43627059 G>A), RS1003361481 (6:43620056 G>C), RS1003486908 (6:43624095 G>A), RS1003592304 (6:43627457 A>G), RS1004207110 (6:43621092 G>A), RS1004264055 (6:43628913 C>T)

Disease associations

OMIM: gene MIM:607434 | disease phenotypes: MIM:617988

GenCC curated gene-disease

Disease	Classification	Inheritance
Jaberi-Elahi syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Jaberi-Elahi syndrome	Definitive	AR

Mondo (2): Jaberi-Elahi syndrome (MONDO:0060711), intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

139 total (30 of 139 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000158	Macroglossia
HP:0000207	Triangular mouth
HP:0000238	Hydrocephalus
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000280	Coarse facial features
HP:0000293	Full cheeks
HP:0000331	Short chin
HP:0000341	Narrow forehead
HP:0000348	High forehead
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000486	Strabismus
HP:0000505	Visual impairment
HP:0000508	Ptosis
HP:0000512	Abnormal electroretinogram
HP:0000519	Developmental cataract
HP:0000545	Myopia
HP:0000582	Upslanted palpebral fissure
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000653	Sparse eyelashes
HP:0000687	Widely spaced teeth
HP:0000729	Autistic behavior
HP:0000750	Delayed speech and language development
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005956_58	Waist-to-hip ratio adjusted for BMI	7.000000e-26
GCST005957_1	Waist-to-hip ratio adjusted for BMI (age <50)	2.000000e-14
GCST005958_2	Waist-to-hip ratio adjusted for BMI (age >50)	2.000000e-19
GCST005962_2	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	3.000000e-31
GCST010988_363	Adult body size	4.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases methylation, increases expression	5
Air Pollutants	affects cotreatment, increases abundance, increases expression, increases oxidation	3
bisphenol A	affects expression, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases oxidation, increases abundance	1
trichostatin A	affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric chloride	affects expression	1
hydroquinone	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
celastrol	increases expression	1
bicalutamide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
gedunin	increases expression	1
monomethylarsonous acid	decreases expression	1
K 7174	increases expression	1
abrine	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
NSC 689534	affects binding, increases expression	1
Decitabine	affects cotreatment, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1TC	Abcam HeLa GTPBP2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders