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

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12, 246, 15, 19, 222313, 163, 184, 241882175, 9, 1411, 17, 2412181012Recycling endosomeAGchr2: 131,930,67720CDC27PLEKHB2MZT2AGPR148RHOASTMN2MIR4784APCNeuronalaxonaloutgrowthCCDC74AAMER3POTEEPtdIns(4,5)P2GDPtubulinCanonical Wnt signalingARHGEF4RAC1mTORC2LINC01087Orphan receptorLINC01120CCDC42FAM168BSTAT3TUBA3DMitotic G2-G2/M phasesRegulation of actin cytoskeletonAMER3RHOARAC1CCDC42Exact function unknownMitotic prometaphasechr2:131,481,308chr2:131,930,6771, 201GDP13, 16GDPGTPGTPGTPLegendTranslocationStimulation of enzyme or gene leading to its activation or expressionMicroRNA or other RNA genePathwayInhibition of function or processCatalysis of compound by enzymeTranscription-translation of geneMetaboliteUnclear interaction mechanism orunclear intermediatesGene or gene productConversionBindingPseudogene


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). For this rare disorder, two different genomic locations are known according to Kirov et al. 2014 and literature cited there and Gimelli et al. 2014 with a larger deletion.

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Bibliography

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  1. Gimelli S, Stathaki E, Béna F, Leoni M, Di Rocco M, Cuoco C, Tassano E; ''Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.''; Am J Med Genet A, 2014 PubMed Europe PMC Scholia
  2. Kawasaki Y, Sato R, Akiyama T; ''Mutated APC and Asef are involved in the migration of colorectal tumour cells.''; Nat Cell Biol, 2003 PubMed Europe PMC Scholia
  3. Mishra M, Lee S, Lin MK, Yamashita T, Heese K; ''Characterizing the neurite outgrowth inhibitory effect of Mani.''; FEBS Lett, 2012 PubMed Europe PMC Scholia
  4. Niu J, Profirovic J, Pan H, Vaiskunaite R, Voyno-Yasenetskaya T; ''G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production.''; Circ Res, 2003 PubMed Europe PMC Scholia
  5. Uchida Y, Hasegawa J, Chinnapen D, Inoue T, Okazaki S, Kato R, Wakatsuki S, Misaki R, Koike M, Uchiyama Y, Iemura S, Natsume T, Kuwahara R, Nakagawa T, Nishikawa K, Mukai K, Miyoshi E, Taniguchi N, Sheff D, Lencer WI, Taguchi T, Arai H; ''Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes.''; Proc Natl Acad Sci U S A, 2011 PubMed Europe PMC Scholia
  6. Mavrakis KJ, McKinlay KJ, Jones P, Sablitzky F; ''DEF6, a novel PH-DH-like domain protein, is an upstream activator of the Rho GTPases Rac1, Cdc42, and RhoA.''; Exp Cell Res, 2004 PubMed Europe PMC Scholia
  7. Mishra M, Akatsu H, Heese K; ''''; , PubMed Europe PMC Scholia
  8. Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H; ''De novo mutations of TUBA3D are associated with keratoconus.''; Sci Rep, 2017 PubMed Europe PMC Scholia
  9. Okazaki S, Kato R, Uchida Y, Taguchi T, Arai H, Wakatsuki S; ''Structural basis of the strict phospholipid binding specificity of the pleckstrin homology domain of human evectin-2.''; Acta Crystallogr D Biol Crystallogr, 2012 PubMed Europe PMC Scholia
  10. Vekariya U, Rawat K, Saxena R, Tripathi RK; ''Identification of MΦ specific POTEE expression: Its role in mTORC2 activation via protein-protein interaction in TAMs.''; Cell Immunol, 2019 PubMed Europe PMC Scholia
  11. van Horck FP, Ahmadian MR, Haeusler LC, Moolenaar WH, Kranenburg O; ''Characterization of p190RhoGEF, a RhoA-specific guanine nucleotide exchange factor that interacts with microtubules.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
  12. Brauburger K, Akyildiz S, Ruppert JG, Graeb M, Bernkopf DB, Hadjihannas MV, Behrens J; ''Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-β-catenin signalling.''; FEBS J, 2014 PubMed Europe PMC Scholia
  13. Kotak S, Busso C, Gönczy P; ''NuMA phosphorylation by CDK1 couples mitotic progression with cortical dynein function.''; EMBO J, 2013 PubMed Europe PMC Scholia
  14. Matsudaira T, Mukai K, Noguchi T, Hasegawa J, Hatta T, Iemura SI, Natsume T, Miyamura N, Nishina H, Nakayama J, Semba K, Tomita T, Murata S, Arai H, Taguchi T; ''Endosomal phosphatidylserine is critical for the YAP signalling pathway in proliferating cells.''; Nat Commun, 2017 PubMed Europe PMC Scholia
  15. Guo X, Stafford LJ, Bryan B, Xia C, Ma W, Wu X, Liu D, Songyang Z, Liu M; ''A Rac/Cdc42-specific exchange factor, GEFT, induces cell proliferation, transformation, and migration.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
  16. Haren L, Merdes A; ''Direct binding of NuMA to tubulin is mediated by a novel sequence motif in the tail domain that bundles and stabilizes microtubules.''; J Cell Sci, 2002 PubMed Europe PMC Scholia
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  18. Mishra M, Akatsu H, Heese K; ''The novel protein MANI modulates neurogenesis and neurite-cone growth.''; J Cell Mol Med, 2011 PubMed Europe PMC Scholia
  19. Kawasaki Y, Sagara M, Shibata Y, Shirouzu M, Yokoyama S, Akiyama T; ''Identification and characterization of Asef2, a guanine-nucleotide exchange factor specific for Rac1 and Cdc42.''; Oncogene, 2007 PubMed Europe PMC Scholia
  20. Kirov G, Rees E, Walters JT, Escott-Price V, Georgieva L, Richards AL, Chambert KD, Davies G, Legge SE, Moran JL, McCarroll SA, O'Donovan MC, Owen MJ; ''The penetrance of copy number variations for schizophrenia and developmental delay.''; Biol Psychiatry, 2014 PubMed Europe PMC Scholia
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  23. Mishra M, Akatsu H, Heese K; ''''; , PubMed Europe PMC Scholia
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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
Orphan receptorQ2496179 (Wikidata)
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)
tubulinQ422492 (Wikidata)

Annotated Interactions

No annotated interactions

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