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

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none Transport of MgELMO2P1TUBGCP5NIPA2Fragile X syndromeMg2+NIPA1CYFIP1FMR1Gamma tubulin complexTUBGCP6TUBGCP4TUBGCP2TUBGCP3TUBGCP5RNA genePseudogeneChromosome 15:22,805,313Chromosome 15:23,094,530Name: 15q11.2 copy number variation syndromeOrganism: Homo sapiens


Description

This pathway shows the genes known in the 15q11.2 region which can cause a copy number variation syndrome (CNV) if deleted or duplicated (or triplicated). These rare genetic syndromes are called 15q11.2 deletion or duplication syndrome, also known as Burnside-Butler syndrome (BBS). This region is relatively small compared to other CNVs but it contains with NIPA1 and NIPA2 two important magnesium transporters which are active in the central nervous system. CYFIP1 is an important interactor with FMR1, which is the causative gene for fragile X syndrome. The breakpoints (chr15:22,805,313-23,094,530 GRCh37/hg19) are defined as given in Kendall et al. 2017: https://doi.org/10.1016/j.biopsych.2016.08.014.

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Quality Tags

Image:Curated.pngApproved version
Image:Wplogo_31.pngCommunity: Rare Diseases
Image:MissingXref.pngAnnotate nodes

Ontology Terms

Disease : Joubert syndrome
Cell Type : ciliated cell
 

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
134612
Approved
RARE
view10:17, 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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
CYFIP1GeneProductENSG00000273749 (Ensembl)
ELMO2P1GeneProductENSG00000276172 (Ensembl)
FMR1GeneProductENSG00000102081 (Ensembl)
Fragile X syndromePathwayWP4549 (WikiPathways)
Gamma tubulin complexComplex
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NIPA1GeneProductENSG00000170113 (Ensembl)
NIPA2GeneProductENSG00000140157 (Ensembl)
TUBGCP2GeneProductENSG00000130640 (Ensembl)
TUBGCP3GeneProductENSG00000126216 (Ensembl)
TUBGCP4GeneProductENSG00000137822 (Ensembl)
TUBGCP5GeneProductENSG00000275835 (Ensembl)
TUBGCP6GeneProductENSG00000128159 (Ensembl)

Annotated Interactions

No annotated interactions

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