2q21.1 copy number variation syndrome (Homo sapiens)

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6132, 5, 231, 249, 16, 20, 22198, 247742112, 17, 2413103, 71114, 18Recycling endosomeAGchr2: 131,930,67715RAC1CCDC74ANeuronalaxonaloutgrowthSTAT3AMER3orphan receptorGDPPtdIns(4,5)P2ARHGEF4APCCanonical Wnt signalingSTMN2LINC01120PLEKHB2MZT2AMitotic G2-G2/M phasesmTORC2POTEEMIR4784AMER3GPR148CDC27RHOACCDC42FAM168BLINC01087Regulation of actin cytoskeletonTUBA3DtubulinRHOARAC1CCDC42Exact function unknownMitotic Prometaphasechr2:131,481,3086, 15chr2:131,930,6776LegendTranslocationGene ProductMetaboliteRNA geneMIM-stimulation of an enzyme or a gene leading to its activation or expressionData node for a micro RNA or another RNA geneData node for a pathwayMIM-inhibition of a compound's function or a processMIM-catalysis of a compound by an enzymePathwayMIM-transcription-translation of a geneData node for a metaboliteDashed line indicates unclear mechanismof interaction/unclear intermediatesData node for a gene or its productMIM-conversion of a compound to anotherMIM-binding of a compound to anotherData node for a pseudo genePseudogeneGDP14, 18GDPGTPGTPGTP


Description

The 2q21.1 copy number variation syndrome can result in the loss of up to 9 protein-coding genes. Deletions and duplications in 2q21.1 were reported to be connected to intellectual disability, hyperactivity, and aggressive behavior (DOI: 10.1002/mgg3.1135,DOI: 10.1002/ajmg.a.36357). The clinical picture was explained by alterations in five genes important for neurological development, namely GPR148, FAM123C, ARHGEF4, FAM168B and PLEKHB2 (DOI: 10.1002/ajmg.a.36357,DOI: 10.1093/hmg/dds166). Analogically, changes in tubulin genes in 2q21.1 were linked to Motor Timing in ADHD (DOI: 10.1016/j.ajhg.2008.06.006).

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134551view21:49, 22 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
134550view21:48, 22 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
134544view21:27, 22 July 2024EweitzFix truncated label, standardize case
134543view21:21, 22 July 2024EweitzRefine legend
127062view15:48, 26 July 2023FehrhartModified description
127061view15:47, 26 July 2023Fehrhartcorrected legend position
127060view15:46, 26 July 2023Fehrhartcorrecting starting positions according to Kirov et al 2014 in addition to Gimelli et al.
122632view10:56, 22 April 2022FehrhartOntology Term : 'disease pathway' added !
122626view09:54, 22 April 2022Shad4Modified description
122602view18:25, 20 April 2022Shad4Converted labels into processes without id and database
122552view15:49, 15 April 2022Shad4New pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AMER3GeneProductENSG00000178171 (Ensembl)
APCProteinENSG00000134982 (Ensembl)
ARHGEF4GeneProductENSG00000136002 (Ensembl)
CCDC42ProteinENSG00000161973 (Ensembl)
CCDC74AGeneProductENSG00000163040 (Ensembl)
CDC27ProteinENSG00000004897 (Ensembl)
Canonical Wnt signalingPathwayWP428 (WikiPathways)
FAM168BGeneProductENSG00000152102 (Ensembl)
GDPMetaboliteCHEBI:17552 (ChEBI)
GPR148GeneProductENSG00000173302 (Ensembl)
GTPMetaboliteCHEBI:37565 (ChEBI)
LINC01087GeneProductENSG00000224559 (Ensembl)
LINC01120GeneProductENSG00000223631 (Ensembl)
MIR4784GeneProductENSG00000284149 (Ensembl)
MZT2AGeneProductENSG00000173272 (Ensembl)
Mitotic G2-G2/M phasesPathwayWP1859 (WikiPathways)
Mitotic PrometaphasePathwayWP2652 (WikiPathways)
Neuronal

axonal

outgrowth
PLEKHB2GeneProductENSG00000115762 (Ensembl)
POTEEGeneProductENSG00000188219 (Ensembl)
PtdIns(4,5)P2MetaboliteCHEBI:18348 (ChEBI)
RAC1ProteinENSG00000136238 (Ensembl)
RHOAProteinENSG00000067560 (Ensembl)
Regulation of actin cytoskeletonPathwayWP51 (WikiPathways)
STAT3ProteinENSG00000168610 (Ensembl)
STMN2ProteinENSG00000104435 (Ensembl)
TUBA3DGeneProductENSG00000075886 (Ensembl)
mTORC2PathwayWP1471 (WikiPathways)
orphan receptorQ2496179 (Wikidata)
tubulinQ422492 (Wikidata)

Annotated Interactions

No annotated interactions

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