TEP1

Summary

TEP1 (telomerase associated protein 1, HGNC:11726) is a protein-coding gene on chromosome 14q11.2, encoding Telomerase protein component 1 (Q99973). Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini.

This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 7011 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cerebral palsy (Moderate, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 487 total
• MANE Select transcript: NM_007110

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11726
Approved symbol	TEP1
Name	telomerase associated protein 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	TP1, TLP1, VAULT2, p240, TROVE1
Ensembl gene	ENSG00000129566
Ensembl biotype	protein_coding
OMIM	601686
Entrez	7011

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 nonsense_mediated_decay, 5 protein_coding, 1 retained_intron

ENST00000262715, ENST00000471684, ENST00000553365, ENST00000553984, ENST00000555008, ENST00000555727, ENST00000556488, ENST00000556549, ENST00000556935, ENST00000557314, ENST00000557627, ENST00000921537

RefSeq mRNA: 2 — MANE Select: NM_007110 NM_001319035, NM_007110

CCDS: CCDS81789, CCDS9548

Canonical transcript exons

ENST00000262715 — 55 exons

Exon	Start	End
ENSE00000652631	20382623	20382715
ENSE00000652632	20383174	20383353
ENSE00000652633	20383488	20383644
ENSE00000652639	20384391	20384508
ENSE00000652640	20384600	20384713
ENSE00000652642	20384985	20385109
ENSE00000652644	20386447	20386623
ENSE00000652645	20387905	20388063
ENSE00000652648	20389238	20389297
ENSE00000652650	20389610	20389740
ENSE00000652656	20391599	20391767
ENSE00000652658	20395450	20395627
ENSE00000652659	20395859	20395949
ENSE00000652661	20396621	20396730
ENSE00000652664	20403377	20403448
ENSE00000652669	20404611	20404772
ENSE00000652671	20405451	20405585
ENSE00000652673	20406233	20406400
ENSE00000888951	20381553	20381686
ENSE00000888955	20382224	20382356
ENSE00000888963	20383743	20383918
ENSE00000888965	20384038	20384232
ENSE00000888973	20386075	20386195
ENSE00000888983	20390681	20390758
ENSE00000888985	20390938	20391096
ENSE00000888995	20400984	20401141
ENSE00000889001	20403723	20403884
ENSE00001124486	20407873	20408463
ENSE00001750444	20413405	20413501
ENSE00001884211	20365667	20368559
ENSE00003470461	20378380	20378535
ENSE00003481555	20375755	20375868
ENSE00003505288	20369344	20369576
ENSE00003509433	20377280	20377492
ENSE00003521727	20369674	20369779
ENSE00003528744	20373011	20373147
ENSE00003537399	20380931	20381045
ENSE00003538281	20378754	20378853
ENSE00003539310	20376104	20376264
ENSE00003550264	20373270	20373402
ENSE00003551892	20368798	20368902
ENSE00003555890	20381913	20382063
ENSE00003561249	20380235	20380475
ENSE00003563597	20373507	20373583
ENSE00003575250	20372733	20372857
ENSE00003579764	20401457	20401581
ENSE00003585209	20378024	20378236
ENSE00003604745	20377600	20377753
ENSE00003605137	20371489	20371632
ENSE00003623362	20374429	20374536
ENSE00003642224	20378981	20379105
ENSE00003647881	20373678	20373810
ENSE00003666982	20371218	20371314
ENSE00003670725	20379930	20380053
ENSE00003691573	20381313	20381401

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 93.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0170 / max 146.6726, expressed in 1802 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142024	15.0170	1802

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	93.02	gold quality
mucosa of transverse colon	UBERON:0004991	93.01	gold quality
mononuclear cell	CL:0000842	91.89	gold quality
jejunal mucosa	UBERON:0000399	91.83	gold quality
leukocyte	CL:0000738	91.78	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.54	gold quality
colonic epithelium	UBERON:0000397	91.34	gold quality
rectum	UBERON:0001052	91.31	gold quality
granulocyte	CL:0000094	91.24	gold quality
small intestine	UBERON:0002108	90.80	gold quality
transverse colon	UBERON:0001157	90.73	gold quality
duodenum	UBERON:0002114	89.91	gold quality
spleen	UBERON:0002106	89.73	gold quality
lymph node	UBERON:0000029	89.08	gold quality
intestine	UBERON:0000160	88.70	gold quality
tonsil	UBERON:0002372	88.60	gold quality
descending thoracic aorta	UBERON:0002345	88.43	gold quality
ascending aorta	UBERON:0001496	88.40	gold quality
thoracic aorta	UBERON:0001515	88.38	gold quality
left coronary artery	UBERON:0001626	88.26	gold quality
aorta	UBERON:0000947	88.17	gold quality
colon	UBERON:0001155	88.16	gold quality
tibial artery	UBERON:0007610	88.09	gold quality
popliteal artery	UBERON:0002250	88.08	gold quality
pylorus	UBERON:0001166	88.06	gold quality
large intestine	UBERON:0000059	87.98	gold quality
right coronary artery	UBERON:0001625	87.95	gold quality
upper lobe of left lung	UBERON:0008952	87.81	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.62	gold quality
blood	UBERON:0000178	87.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting TEP1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-409-3P	99.50	66.33	1192

Literature-anchored findings (GeneRIF, showing 14)

• TP1 expression did not change after cisplatin exposure for 72 hours. (PMID:11942411)
• TEP1, hTR, hsp90, p23, and dyskerin remained at high and unchanged levels throughout up- or down regulation of telomerase activity. (PMID:12135483)
• expression of telomerase activity and its subunit level in pancreatic carcinoma significantly correlate with the clinical stage of pancreatic carcinoma (PMID:12918126)
• Telomerase activity and hTERT, TP-1 mRNA expression are up-regulated in esophageal squamous cell carcinoma (PMID:14606063)
• The epithelial expression of TP-1 is elevated in mildly active UC. (PMID:18938767)
• TEP1, TOPOIIalpha, and HSP90 interact directly with BLM in vitro and modulate its helicase activity on telomere-like DNA substrates but not on non-telomeric substrates. (PMID:19329795)
• the protein levels of MVP, TEP1 and vPARP are actually increased in the highergrade tumors suggesting existence of post-transcriptional regulation of vault component production. (PMID:23739867)
• 8 common SNPs in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) were genotyped. (PMID:24269974)
• These data suggest that genetic variations in the TEP1 gene may be biomarkers for risk of PCa and BCR after RP. (PMID:26238235)
• TEP1 Polymorphisms are not associated with Hepatocellular Carcinoma in Thai Patients with Chronic Hepatitis B Virus Infection. (PMID:27221889)
• The current results suggested that genetic variants at TEP1 SNPs rs1760893 and rs1713423 may be associated significantly with increased risk of stomach cancer. (PMID:27305982)
• hsa_circ_0004018 suppresses the progression of liver fibrosis through regulating the hsa-miR-660-3p/TEP1 axis. (PMID:32584784)
• TEP1 is a risk gene for sporadic cerebral palsy. (PMID:34543729)
• MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells. (PMID:34829999)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tep1	ENSMUSG00000006281
rattus_norvegicus	Tep1	ENSRNOG00000051706

Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)

Protein

Protein identifiers

Telomerase protein component 1 — Q99973 (reviewed: Q99973)

Alternative names: Telomerase-associated protein 1, p240, p80 telomerase homolog

All UniProt accessions (10): Q99973, G3V2A4, G3V470, G3V591, G3V5X7, H0YIY9, H0YIZ2, H0YJ53, H0YJF6, H0YJP8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also a component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC.

Subunit / interactions. Associated component of the telomerase holoenzyme complex. Component of the vault ribonucleoprotein particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs). Binds to VAULTRC1, VAULTRC2 and VAULTRC4/hvg4 vRNAs.

Subcellular location. Nucleus. Chromosome. Telomere.

Tissue specificity. Ubiquitous.

Miscellaneous. May be due to an exon inclusion.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99973-1	1	yes
Q99973-2	2

RefSeq proteins (2): NP_001305964, NP_009041* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR007111	NACHT_NTPase	Domain
IPR008850	TEP1_N	Repeat
IPR008858	TROVE_dom	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR025139	DUF4062	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR037214	TROVE_dom_sf	Homologous_superfamily
IPR045804	DUF5920	Domain
IPR052652	Telomerase_Complex_Comp	Family
IPR056828	Beta-prop_TEP1_C	Domain
IPR056829	Beta-prop_TEP1_2nd	Domain

Pfam: PF00400, PF05386, PF05729, PF05731, PF13271, PF19334, PF25047, PF25048

UniProt features (56 total): repeat 25, sequence variant 21, region of interest 3, compositionally biased region 2, domain 2, chain 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
11GZ	X-RAY DIFFRACTION	2.44

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99973-F1	67.35	0.03

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 (1): 1168–1175

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): GOBP_RNA_TEMPLATED_DNA_BIOSYNTHETIC_PROCESS, GOBP_CHROMOSOME_ORGANIZATION, BIOCARTA_TEL_PATHWAY, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_TELOMERE_ORGANIZATION, KAUFFMANN_DNA_REPAIR_GENES, BROWNE_HCMV_INFECTION_48HR_DN, GOMF_DNA_POLYMERASE_ACTIVITY, GOBP_TELOMERE_MAINTENANCE_VIA_RECOMBINATION, GOBP_DNA_BIOSYNTHETIC_PROCESS, SHIN_B_CELL_LYMPHOMA_CLUSTER_7, SANSOM_APC_TARGETS_DN, GOBP_MITOTIC_RECOMBINATION, CONRAD_STEM_CELL, GOCC_TELOMERASE_HOLOENZYME_COMPLEX

GO Biological Process (3): telomere maintenance via recombination (GO:0000722), DNA metabolic process (GO:0006259), RNA-templated DNA biosynthetic process (GO:0006278)

GO Molecular Function (8): p53 binding (GO:0002039), telomerase activity (GO:0003720), RNA binding (GO:0003723), ATP binding (GO:0005524), enzyme binding (GO:0019899), telomerase RNA binding (GO:0070034), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (7): chromosome, telomeric region (GO:0000781), telomerase holoenzyme complex (GO:0005697), cytoplasm (GO:0005737), nuclear matrix (GO:0016363), ribonucleoprotein complex (GO:1990904), nucleus (GO:0005634), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
cellular anatomical structure	2
telomere maintenance	1
mitotic recombination	1
nucleic acid metabolic process	1
DNA biosynthetic process	1
RNA-directed DNA polymerase activity	1
nucleic acid binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
RNA binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
chromosomal region	1
nuclear protein-containing complex	1
catalytic complex	1
ribonucleoprotein complex	1
intracellular anatomical structure	1
nuclear lumen	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

4299 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEP1	PARP4	Q9UKK3	999
TEP1	MVP	Q14764	997
TEP1	TERT	O14746	996
TEP1	HSP90AB1	P08238	894
TEP1	HSP90AA1	P07900	893
TEP1	NAIP	Q13075	646
TEP1	DKC1	O60832	579
TEP1	ZNF503	Q96F45	552
TEP1	TP53	P04637	536
TEP1	NLRP3	Q96P20	503
TEP1	TERF1	P54274	463
TEP1	WRAP53	Q9BUR4	449
TEP1	HNRNPC	P07910	426
TEP1	ZNF703	Q9H7S9	422
TEP1	PTGES3	Q15185	414

IntAct

34 interactions, top by confidence:

A	B	Type	Score
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
TEP1	RHOXF2	psi-mi:“MI:0915”(physical association)	0.560
UBAP2	TEP1	psi-mi:“MI:0915”(physical association)	0.560
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
TEP1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
TEP1	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
TIRAP	DHPS	psi-mi:“MI:0914”(association)	0.350
CCNL1	RPSA2	psi-mi:“MI:0914”(association)	0.350
COLQ	POTEF	psi-mi:“MI:0914”(association)	0.350
KLHL14	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
SF3B3	MYO9A	psi-mi:“MI:0914”(association)	0.350
F12		psi-mi:“MI:0914”(association)	0.350
BAG2	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
COP1	ACACB	psi-mi:“MI:0914”(association)	0.350
BAG5	ACACB	psi-mi:“MI:0914”(association)	0.350
C1QTNF2	FCHO1	psi-mi:“MI:0914”(association)	0.350
CIB2	APAF1	psi-mi:“MI:0914”(association)	0.350
MAP7	TNPO2	psi-mi:“MI:0914”(association)	0.350
NOP53	MAGEB2	psi-mi:“MI:0914”(association)	0.350
ACTL6B	RECQL4	psi-mi:“MI:0914”(association)	0.350
SMDT1	COL1A1	psi-mi:“MI:0914”(association)	0.350
FTL		psi-mi:“MI:0914”(association)	0.350
	SRRM1	psi-mi:“MI:0914”(association)	0.350
RHOXF2	TEP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (65): TEP1 (Affinity Capture-MS), TEP1 (Affinity Capture-MS), TEP1 (Affinity Capture-MS), TEP1 (Affinity Capture-RNA), TEP1 (Affinity Capture-RNA), TEP1 (Affinity Capture-MS), TEP1 (Protein-RNA), TEP1 (Affinity Capture-MS), RHOXF2 (Two-hybrid), UBAP2 (Two-hybrid), TEP1 (Proximity Label-MS), TEP1 (Proximity Label-MS), TERT (Affinity Capture-Western), TEP1 (Affinity Capture-MS), TEP1 (Affinity Capture-RNA)

ESM2 similar proteins: A0JM24, A1A5R7, A2AKG8, A2CI34, D3YWQ0, F1MAB7, F6S215, O08653, O43149, O54705, O62699, P29477, P35608, P59438, P97499, Q06518, Q08DB2, Q20CR4, Q27995, Q28314, Q4R856, Q4TVR5, Q4VSN2, Q4VSN3, Q4VSN4, Q4VSN5, Q5BIW4, Q5EB20, Q5R6T6, Q5SSH7, Q5TEA3, Q5VW36, Q6NV72, Q6NXH8, Q6NXP6, Q6P996, Q6XUX0, Q6XUX1, Q6XUX2, Q6XUX3

Diamond homologs: A0JPH4, A1C7E4, A1CBP8, A1D7I5, A1DDL6, A1DHW6, A2QCU8, A2QEV8, A2R3Z3, A2RRU4, A4R3M4, A4RJV3, A5DGL8, A6QM06, A6ZMK5, A6ZQL5, A6ZZZ8, A7ETB3, A7TMF9, A7TNS8, A8PTE4, B0XTS1, B0XYC8, B2B766, B4GSH1, B4JB43, B6Q4Z5, B8NGT5, C4JPW9, C5FWH1, C7Z6H2, O08653, O42937, O48716, O54929, P0CS44, P0CS45, P36130, P40217, P47025

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TEP1	“form complex”	“Vault ribonucleoprotein complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	381
Likely benign	35
Benign	16

Top pathogenic / likely-pathogenic (0)

SpliceAI

8221 predictions. Top by Δscore:

Variant	Effect	Δscore
14:20369575:CT:C	acceptor_gain	1.0000
14:20369778:CT:C	acceptor_gain	1.0000
14:20369780:C:CC	acceptor_gain	1.0000
14:20371211:GACTT:G	donor_loss	1.0000
14:20371212:ACTT:A	donor_loss	1.0000
14:20371213:CTTA:C	donor_loss	1.0000
14:20371214:TTA:T	donor_loss	1.0000
14:20371215:TA:T	donor_loss	1.0000
14:20371216:A:AC	donor_gain	1.0000
14:20371216:A:AT	donor_loss	1.0000
14:20371217:C:CC	donor_gain	1.0000
14:20371315:C:CA	acceptor_loss	1.0000
14:20371315:C:CC	acceptor_gain	1.0000
14:20371316:T:A	acceptor_loss	1.0000
14:20371320:T:C	acceptor_gain	1.0000
14:20371320:T:TC	acceptor_gain	1.0000
14:20373008:CA:C	donor_loss	1.0000
14:20373009:A:AC	donor_gain	1.0000
14:20373010:C:CC	donor_gain	1.0000
14:20373036:T:TA	donor_gain	1.0000
14:20373143:GTCAT:G	acceptor_gain	1.0000
14:20373144:TCAT:T	acceptor_gain	1.0000
14:20373145:CAT:C	acceptor_gain	1.0000
14:20373145:CATC:C	acceptor_gain	1.0000
14:20373146:AT:A	acceptor_gain	1.0000
14:20373147:TC:T	acceptor_loss	1.0000
14:20373148:C:CA	acceptor_loss	1.0000
14:20373148:C:CC	acceptor_gain	1.0000
14:20373267:CA:C	donor_loss	1.0000
14:20373268:A:AC	donor_gain	1.0000

AlphaMissense

16949 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:20404637:A:G	W336R	0.996
14:20404637:A:T	W336R	0.996
14:20368829:A:T	V2577D	0.995
14:20368821:A:G	W2580R	0.991
14:20368821:A:T	W2580R	0.991
14:20368819:C:A	W2580C	0.990
14:20368819:C:G	W2580C	0.990
14:20373765:A:G	W2173R	0.990
14:20373765:A:T	W2173R	0.990
14:20383511:A:G	W1282R	0.989
14:20383511:A:T	W1282R	0.989
14:20400999:A:G	W512R	0.989
14:20400999:A:T	W512R	0.989
14:20403801:A:C	F372L	0.989
14:20403801:A:T	F372L	0.989
14:20403803:A:G	F372L	0.989
14:20401041:A:G	W498R	0.988
14:20401041:A:T	W498R	0.988
14:20373763:C:A	W2173C	0.987
14:20373763:C:G	W2173C	0.987
14:20401039:C:A	W498C	0.986
14:20401039:C:G	W498C	0.986
14:20396697:C:G	R528P	0.985
14:20403810:A:C	F369L	0.985
14:20403810:A:T	F369L	0.985
14:20403812:A:G	F369L	0.985
14:20368847:G:T	A2571D	0.984
14:20368823:A:G	L2579P	0.983
14:20368850:G:T	T2570K	0.983
14:20368877:A:G	L2561P	0.982

dbSNP variants (sampled 300 via entrez): RS1000054553 (14:20397781 T>C), RS1000203006 (14:20409742 C>T), RS1000260919 (14:20395231 T>C), RS1000357690 (14:20415449 T>G), RS1000381023 (14:20373608 A>G), RS1000381800 (14:20389617 G>T), RS1000502563 (14:20407254 A>T), RS1000778970 (14:20386984 G>C,T), RS1000794326 (14:20399705 A>G), RS1000805099 (14:20410037 A>T), RS1000922545 (14:20393142 A>G), RS1000927669 (14:20411081 A>G), RS1000932496 (14:20366162 T>G), RS1001026287 (14:20400194 G>A), RS1001032250 (14:20365379 T>A,C)

Disease associations

OMIM: gene MIM:601686 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
cerebral palsy	Moderate	Autosomal dominant

Mondo (1): cerebral palsy (MONDO:0006497)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003489_7	Food addiction	7.000000e-07
GCST004994_1	White matter microstructure in first episode schizophrenia (left anterior cingulate cortex)	7.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007829	eating behaviour
EFO:0007830	food addiction measurement
EFO:0005674	white matter microstructure measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002547	Cerebral Palsy	C10.228.140.140.254

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Binding affinities (BindingDB)

17 measured of 18 human assays (18 total across all organisms); most potent 17 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	850 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
2-[(2-amino-6-oxo-5H-purin-9-yl)methyl]prop-2-enoxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	1400 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethyl-N-decylphosphonamidic acid	EC50	1440 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
3-(2-amino-6-oxo-5H-purin-9-yl)propoxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	1500 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethyl-N-[3-[4-[3-[[1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethyl-hydroxyphosphoryl]amino]propylamino]butylamino]propyl]phosphonamidic acid	EC50	1840 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
[1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethyl-(propan-2-yloxycarbonyloxymethoxy)phosphoryl]oxymethyl propan-2-yl carbonate	EC50	2150 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
PMIBeG free acid	EC50	2600 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
2-(2-amino-6-oxo-5H-purin-9-yl)propoxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	3100 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
[3-(2-amino-6-oxo-5H-purin-9-yl)-2-methylpropoxy]methyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	4400 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
N-[3-(4-aminobutylamino)propyl]-[1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethyl]phosphonamidic acid	EC50	5000 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
N-[3-(4-aminobutylamino)propyl]-[2-[(2-amino-6-oxo-5H-purin-9-yl)methyl]prop-2-enoxymethyl]phosphonamidic acid	EC50	6700 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
[1-(2-amino-6-oxo-5H-purin-9-yl)-3-fluoropropan-2-yl]oxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	7500 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
1-(2-amino-6-sulfanylidene-5H-purin-9-yl)propan-2-yloxymethylphosphonic acid	EC50	7540 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
[(2R)-1-(2-amino-6-oxo-5H-purin-9-yl)butan-2-yl]oxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	10000 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
PMPeG, prodrug	EC50	10800 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
1-(2-amino-6-oxo-5H-purin-9-yl)propan-2-yloxymethylphosphonic acid	EC50	11700 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors
1-(2-amino-6-sulfanylidene-5H-purin-9-yl)propan-2-yloxymethyl-[hydroxy(phosphonooxy)phosphoryl]oxyphosphinic acid	EC50	13500 nM	US-10035814: Guanine analogs as telomerase substrates and telomere length affectors

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases expression, increases methylation, affects methylation	5
Aflatoxin B1	decreases methylation, increases expression	3
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	increases abundance, increases expression, affects expression, affects cotreatment	2
Ozone	affects cotreatment, increases expression, increases abundance, affects expression	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
benzamide	decreases expression	1
methacrylaldehyde	increases expression, increases abundance, affects cotreatment	1
perfluorooctane sulfonic acid	increases expression	1
(+)-JQ1 compound	increases expression	1
Panobinostat	affects cotreatment, affects expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects cotreatment, affects expression	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Thiram	increases expression	1
Urethane	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TR94	HAP1 TEP1 (-) 1	Cancer cell line	Male
CVCL_TR95	HAP1 TEP1 (-) 2	Cancer cell line	Male
CVCL_TR96	HAP1 TEP1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00154830	PHASE4	COMPLETED	Alterations of Functional Activities and Leg Stiffness After Hamstring Lengthening in Cerebral Palsy Children
NCT00432055	PHASE4	COMPLETED	Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy
NCT00549471	PHASE4	TERMINATED	Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy
NCT00752934	PHASE4	TERMINATED	Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?
NCT00964639	PHASE4	COMPLETED	Postoperative Pain in Children With Cerebral Palsy After Pelvic and Femoral Osteotomies
NCT01386255	PHASE4	WITHDRAWN	Placebo Controlled Study of Baclofen for GERD in Children With Cerebral Palsy
NCT02546999	PHASE4	COMPLETED	Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy?
NCT02633241	PHASE4	COMPLETED	A Pilot Study of Dexmedetomidine-Propofol in Children Undergoing Magnetic Resonance Imaging
NCT03117322	PHASE4	COMPLETED	Synbiotic, Prebiotics and Probiotics in Children With Cerebral Palsy and Constipation
NCT03648658	PHASE4	UNKNOWN	Paracetamol Study in Patients With Low Muscle Mass
NCT04074265	PHASE4	COMPLETED	Peri-operative Use of a Pain Injection in Pediatric Patients With Cerebral Palsy
NCT04273737	PHASE4	TERMINATED	Amantadine in Treating Cognitive & Motor Impairments in Adolescents and Adults With Cerebral Palsy
NCT04523935	PHASE4	COMPLETED	Excessive Crying in Children With Cerebral Palsy and Communication Deficits
NCT05887765	PHASE4	COMPLETED	Effect of Systematic Dexamethasone on the Duration of Popliteal Nerve Block for Anesthesia After Pediatric Ankle Surgery
NCT06176430	PHASE4	UNKNOWN	Comparison of Twice Weekly Versus Daily Iron Therapy in Treating Anemia in Children With Cerebral Palsy
NCT06189781	PHASE4	RECRUITING	Pain Injection Versus Epidural Anesthesia for Hip Surgery in Pediatric Patients With Cerebral Palsy
NCT00014989	PHASE3	COMPLETED	Beneficial Effects of Antenatal Magnesium Sulfate (BEAM Trial)
NCT00065949	PHASE3	UNKNOWN	Magnesium Sulfate to Prevent Brain Injury in Premature Infants
NCT00367068	PHASE3	COMPLETED	Dutch National ITB Study in Children With Cerebral Palsy
NCT00491894	PHASE3	COMPLETED	Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions
NCT00632528	PHASE3	COMPLETED	MEOPA to Improve Physical Therapy Results After Multilevel Surgery
NCT00822029	PHASE3	TERMINATED	Use of Oral Bisphosphonates in the Treatment of Osteoporosis of Non-walking Children With Cerebral Palsy
NCT00922077	PHASE3	COMPLETED	Individualized Neurodevelopmental Treatment
NCT01249417	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Study
NCT01251380	PHASE3	COMPLETED	Dysport® Pediatric Lower Limb Spasticity Follow-on Study
NCT01437644	PHASE3	COMPLETED	The Post-Operative Pain in Cerebral Palsy (POPPIES) Trial
NCT01492608	PHASE3	COMPLETED	Magnesium Sulphate for Preterm Birth (MASP Study)
NCT01603602	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Upper Limb Spasticity
NCT01603615	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Upper Limb Spasticity
NCT01603628	PHASE3	COMPLETED	BOTOX® Treatment in Pediatric Lower Limb Spasticity
NCT01603641	PHASE3	COMPLETED	BOTOX® Open-Label Treatment in Pediatric Lower Limb Spasticity
NCT01633736	PHASE3	UNKNOWN	Targeted Hip Strength Training in Children With Cerebral Palsy (CP)
NCT01898520	PHASE3	COMPLETED	A Safety, Efficacy and Tolerability Study of Sativex for the Treatment of Spasticity in Children Aged 8 to 18 Years
NCT01929434	PHASE3	COMPLETED	Efficacy of Stem Cell Transplantation Compared to Rehabilitation Treatment of Patients With Cerebral Paralysis
NCT02002884	PHASE3	COMPLETED	Dose-response Study of Efficacy and Safety of Botulinum Toxin Type A to Treat Spasticity of the Arm(s) or of Arm(s) and Leg(s) in Cerebral Palsy
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
NCT02839785	PHASE3	TERMINATED	Analgesia and Physiotherapy in Children With Cerebral Palsy (ANTALKINECP)
NCT03110341	PHASE3	UNKNOWN	Effect of Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome
NCT03302871	PHASE3	COMPLETED	Integrated Management Enhances Functional Gains in Children With Cerebral Palsy Treated by BoNT-A
NCT03306212	PHASE3	COMPLETED	Efficacy of Intermittent Serial Casting on Spastic Wrist Flexion Deformity