15q11.2 copy number variation syndrome (Homo sapiens)

From WikiPathways

Revision as of 14:22, 23 June 2020 by Fehrhart (Talk | contribs)
(diff) ←Older revision | Current revision (diff) | Newer revision→ (diff)
Jump to: navigation, search
4213unknown functionTUBGCP6TUBGCP4ABCB10P1TUBGCP2RN7SL106PTUBGCP3CYFIP1NIPA2MIR4509-1GOLGA8DPNIPA1ELMO2P1TUBGCP5GOLGA6L1FMR1Mg2+gamma tubulin complexRNA genephosphorylated statepseudo geneAKT1HIF1AUubiquitinated stateBRINP1SSUMOylated stateChromosome 15:22,765,628Chromosome 15:23,217,514TUBGCP5


Description

15q11.2 copy number variation region. Deletion or duplication syndrome, also called Burnside Butler syndrome.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

  1. Goytain A, Hines RM, Quamme GA; ''Functional characterization of NIPA2, a selective Mg2+ transporter.''; Am J Physiol Cell Physiol, 2008 PubMed Europe PMC Scholia
  2. Oakley BR, Paolillo V, Zheng Y; ''γ-Tubulin complexes in microtubule nucleation and beyond.''; Mol Biol Cell, 2015 PubMed Europe PMC Scholia
  3. Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL; ''A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  4. Goytain A, Hines RM, El-Husseini A, Quamme GA; ''NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.''; J Biol Chem, 2007 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134612view10:17, 23 July 2024EweitzOntology Term : 'fragile X syndrome' added !
134611view10:17, 23 July 2024EweitzModified description
134610view10:13, 23 July 2024EweitzFix spacing, standardize case
134609view10:11, 23 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
124896view14:47, 29 December 2022EgonwModified description
115775view13:44, 11 March 2021FehrhartModified description
115774view13:43, 11 March 2021Fehrhartupdated to GRCh37
111081view07:16, 7 July 2020FehrhartFRX pathway
110963view13:46, 24 June 2020FehrhartModified description
110962view13:28, 24 June 2020EgonwUpdated a ChEBI identifier
110957view08:23, 24 June 2020FehrhartOntology Term : 'genetic disease' added !
110956view08:22, 24 June 2020FehrhartOntology Term : 'disease pathway' added !
110955view08:22, 24 June 2020FehrhartOntology Term : 'chromosome 15q11.2 deletion syndrome' added !
110954view08:18, 24 June 2020Fehrhartwork in progress
110948view15:29, 23 June 2020Fehrhartwork in progress
110944view14:22, 23 June 2020FehrhartNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ABCB10P1GeneProductENSG00000274099 (Ensembl)
AKT1GeneProductENSG00000142208 (Ensembl)
BRINP1GeneProductENSG00000078725 (Ensembl) DBC1
CYFIP1GeneProductENSG00000273749 (Ensembl)
ELMO2P1GeneProductENSG00000276172 (Ensembl)
FMR1GeneProductENSG00000102081 (Ensembl)
GOLGA6L1GeneProductENSG00000273976 (Ensembl)
GOLGA8DPGeneProductENSG00000175676 (Ensembl)
HIF1AGeneProductENSG00000100644 (Ensembl)
MIR4509-1GeneProductENSG00000276941 (Ensembl)
Mg2+MetaboliteCHEBI:6635 (ChEBI)
NIPA1GeneProductENSG00000170113 (Ensembl)
NIPA2GeneProductENSG00000140157 (Ensembl)
RN7SL106PGeneProductENSG00000273981 (Ensembl)
TUBGCP2GeneProductENSG00000130640 (Ensembl)
TUBGCP3GeneProductENSG00000126216 (Ensembl)
TUBGCP4GeneProductENSG00000137822 (Ensembl)
TUBGCP5GeneProductENSG00000275835 (Ensembl)
TUBGCP6GeneProductENSG00000128159 (Ensembl)
gamma tubulin complexComplex

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP4940"
Personal tools