Telomere end packaging and neurodevelopmental disorders (Homo sapiens)

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Description

This pathway shows the molecular details around telomere and packaging its involvement in neurodevelopmental disorders. These processes are i.a. involved in the Tessadori-Bicknell-van Haaften syndrome 3 (TEBINVAD) - for an overview of this syndrome see [WP5575](http://wikipathways.org/instance/WP5575).

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History

View all...
CompareRevisionActionTimeUserComment
140343view19:30, 11 August 2025EgonwModified description
140324view10:11, 11 August 2025Fehrhartsmall graphical corrections
140323view10:08, 11 August 2025FehrhartOntology Term : 'epilepsy' added !
140322view10:07, 11 August 2025FehrhartOntology Term : 'disease pathway' added !
140321view10:07, 11 August 2025FehrhartModified description
140200view11:13, 6 August 2025DuanThe POT1 to TERT interaction is deleted since it is not from human(ref:https://doi.org/10.1242/jcs.004119).
139719view11:29, 1 July 2025JmlohmannAdded pathway identifiers
139632view14:29, 24 June 2025JmlohmannForgot to save my changes, so updated the references and included the legend.
139391view11:19, 13 June 2025JmlohmannNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ACDGeneProductENSG00000102977 (Ensembl)
Causing gene for all TEBIVANED
Double-stranded telomeric DNAMetabolite4705 (ChEBI)
H2AB1GeneProductENSG00000274183 (Ensembl)
H2AProteinB2R5B3 (Uniprot-TrEMBL)
H2AC14GeneProductENSG00000276368 (Ensembl)
H2AC18GeneProductENSG00000288825 (Ensembl)
H2AC20GeneProductENSG00000184260 (Ensembl)
H2AC6GeneProductENSG00000180573 (Ensembl)
H2AC7GeneProductENSG00000196866 (Ensembl)
H2AC8GeneProductENSG00000277075 (Ensembl)
H2AJGeneProductENSG00000246705 (Ensembl)
H2AXGeneProductENSG00000188486 (Ensembl)
H2AZ1GeneProductENSG00000164032 (Ensembl)
H2AZ2GeneProductENSG00000105968 (Ensembl)
H2BProteinB4DR52 (Uniprot-TrEMBL)
H2BC11GeneProductENSG00000124635 (Ensembl)
H2BC12GeneProductENSG00000197903 (Ensembl)
H2BC12LGeneProductENSG00000234289 (Ensembl)
H2BC13GeneProductENSG00000185130 (Ensembl)
H2BC14GeneProductENSG00000273703 (Ensembl)
H2BC15GeneProductENSG00000233822 (Ensembl)
H2BC17GeneProductENSG00000274641 (Ensembl)
H2BC1GeneProductENSG00000146047 (Ensembl)
H2BC21GeneProductENSG00000184678 (Ensembl)
H2BC26GeneProductENSG00000196890 (Ensembl)
H2BC3GeneProductENSG00000276410 (Ensembl)
H2BC4GeneProductENSG00000180596 (Ensembl)
H2BC5GeneProductENSG00000158373 (Ensembl)
H2BC9GeneProductENSG00000275713 (Ensembl)
H3-4GeneProductENSG00000168148 (Ensembl)
H3ProteinB4E380 (Uniprot-TrEMBL)
H4C11GeneProductENSG00000197238 (Ensembl)
H4C12GeneProductENSG00000273542 (Ensembl)
H4C13GeneProductENSG00000275126 (Ensembl)
H4C14GeneProductENSG00000270882 (Ensembl)
H4C15GeneProductENSG00000270276 (Ensembl)
H4C16GeneProductENSG00000197837 (Ensembl)
H4C1GeneProductENSG00000278637 (Ensembl)
H4C2GeneProductENSG00000278705 (Ensembl)
H4C3GeneProductENSG00000197061 (Ensembl)
H4C4GeneProductENSG00000277157 (Ensembl)
H4C5GeneProductENSG00000276966 (Ensembl)
H4C6GeneProductENSG00000274618 (Ensembl)
H4C8GeneProductENSG00000158406 (Ensembl)
H4C9GeneProductENSG00000276180 (Ensembl)
H4ProteinP62805 (Uniprot-TrEMBL)
Histone H2AGeneProduct
Histone H2BGeneProduct
Histone H3GeneProduct
Histone H4GeneProduct
LOC102724334GeneProductENSG00000274559 (Ensembl)
POT1GeneProductENSG00000128513 (Ensembl)
Single-stranded telomeric DNAMetabolite9160 (ChEBI)
TEBIVANED-1 Causing genes
TEBIVANED-2 Causing genes
TEBIVANED-3 Causing genes
TEBIVANED-4 Causing genes
TERF1GeneProductENSG00000147601 (Ensembl)
TERF2GeneProductENSG00000132604 (Ensembl)
TERF2IPGeneProductENSG00000166848 (Ensembl)
TINF2GeneProductENSG00000092330 (Ensembl)
TPP1GeneProductENSG00000166340 (Ensembl)
Telomere length regulationPathwayR-HSA-157579 (Reactome)
Telomere protection regulationPathwayR-HSA-157579 (Reactome)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5567"
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