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 unknown functionELMO2P1GOLGA6L1RN7SL106PABCB10P1hsa-mir-4509-1TUBGCP5NIPA2Mg2+NIPA1GOLGA8DPCYFIP1FMR1gamma tubulin complexTUBGCP6TUBGCP4TUBGCP2TUBGCP3TUBGCP5RNA genepseudo geneChromosome 15:22,765,628Chromosome 15:23,217,514Name: 15q11.2 copy number variation syndromeOrganism: Homo sapiens


Description

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

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Quality Tags

Image:Curated.pngReview changes for Approved
Image:Wplogo_31.pngCommunity: Rare Diseases
Image:MissingXref.pngAnnotate nodes

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
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  ↓
ABCB10P1GeneProductENSG00000274099 (Ensembl)
CYFIP1GeneProductENSG00000273749 (Ensembl)
ELMO2P1GeneProductENSG00000276172 (Ensembl)
FMR1GeneProductENSG00000102081 (Ensembl)
GOLGA6L1GeneProductENSG00000273976 (Ensembl)
GOLGA8DPGeneProductENSG00000175676 (Ensembl)
Mg2+MetaboliteCHEBI:18420 (ChEBI)
NIPA1GeneProductENSG00000170113 (Ensembl)
NIPA2GeneProductENSG00000140157 (Ensembl)
RN7SL106PGeneProductENSG00000273981 (Ensembl)
TUBGCP2GeneProductENSG00000130640 (Ensembl)
TUBGCP3GeneProductENSG00000126216 (Ensembl)
TUBGCP4GeneProductENSG00000137822 (Ensembl)
TUBGCP5GeneProductENSG00000275835 (Ensembl)
TUBGCP6GeneProductENSG00000128159 (Ensembl)
gamma tubulin complexComplex
hsa-mir-4509-1GeneProductMI0016873 (miRBase Sequence) MIR4509-1

Annotated Interactions

No annotated interactions

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