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

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7111, 102, 6, 8, 205, 17, 182113, 15, 223, 1717, 2319119141612124, 12Recycling endosomeAGNEK2P4MTND4P21AMER3RHOQP2ARHGAP42P1orphan receptorMIR4784MTATP6P4MED15P3FAM168BMZT2AAMER3GPR148LINC01120MTND6P10GNAQP1CCDC74ARNU6-127PRegulation of actin cytoskeletonCDC27MTND1P26APCRHOAMitotic G2-G2/M phasesCYCSP8tubulinMTND2P18ARHGEF4GDPmTORC2MED15P4CCDC42NF1P8C2orf27BKLF2P4PLEKHB2GRAMD4P8PtdIns(4,5)P2STAT3POTEEMTND5P23MED15P8POTEKPSTMN2FAR2P4Canonical Wnt signalingLINC01087RAC1C2orf27ANeuronalaxonaloutgrowthTUBA3DRNU6-617PRHOARAC1CCDC42Exact function unknownMitotic Prometaphasechr2:131,477,8617chr2:132,640,0297LegendTranslocationGene 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 genePseudogene1, 10GDPGDPGTPGTPGTP


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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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


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NameTypeDatabase referenceComment
AMER3GeneProductENSG00000178171 (Ensembl)
APCProteinENSG00000134982 (Ensembl)
ARHGAP42P1GeneProductENSG00000227817 (Ensembl)
ARHGEF4GeneProductENSG00000136002 (Ensembl)
C2orf27AGeneProductENSG00000197927 (Ensembl)
C2orf27BGeneProductENSG00000186825 (Ensembl)
CCDC42ProteinENSG00000161973 (Ensembl)
CCDC74AGeneProductENSG00000163040 (Ensembl)
CDC27ProteinENSG00000004897 (Ensembl)
CYCSP8GeneProductENSG00000232503 (Ensembl)
Canonical Wnt signalingPathwayWP428 (WikiPathways)
FAM168BGeneProductENSG00000152102 (Ensembl)
FAR2P4GeneProductENSG00000231431 (Ensembl)
GDPMetaboliteCHEBI:17552 (ChEBI)
GNAQP1GeneProductENSG00000214077 (Ensembl)
GPR148GeneProductENSG00000173302 (Ensembl)
GRAMD4P8GeneProductENSG00000270930 (Ensembl)
GTPMetaboliteCHEBI:37565 (ChEBI)
KLF2P4GeneProductENSG00000236516 (Ensembl)
LINC01087GeneProductENSG00000224559 (Ensembl)
LINC01120GeneProductENSG00000223631 (Ensembl)
MED15P3GeneProductENSG00000226831 (Ensembl)
MED15P4GeneProductENSG00000224679 (Ensembl)
MED15P8GeneProductENSG00000248796 (Ensembl)
MIR4784GeneProductENSG00000284149 (Ensembl)
MTATP6P4GeneProductENSG00000236590 (Ensembl)
MTND1P26GeneProductENSG00000234576 (Ensembl)
MTND2P18GeneProductENSG00000234939 (Ensembl)
MTND4P21GeneProductENSG00000231777 (Ensembl)
MTND5P23GeneProductENSG00000235080 (Ensembl)
MTND6P10GeneProductENSG00000227275 (Ensembl)
MZT2AGeneProductENSG00000173272 (Ensembl)
Mitotic G2-G2/M phasesPathwayWP1859 (WikiPathways)
Mitotic PrometaphasePathwayWP2652 (WikiPathways)
NEK2P4GeneProductENSG00000230450 (Ensembl)
NF1P8GeneProductENSG00000236956 (Ensembl)


PLEKHB2GeneProductENSG00000115762 (Ensembl)
POTEEGeneProductENSG00000188219 (Ensembl)
POTEKPGeneProductENSG00000204434 (Ensembl)
PtdIns(4,5)P2MetaboliteCHEBI:18348 (ChEBI)
RAC1ProteinENSG00000136238 (Ensembl)
RHOAProteinENSG00000067560 (Ensembl)
RHOQP2GeneProductENSG00000232742 (Ensembl)
RNU6-127PGeneProductENSG00000212199 (Ensembl)
RNU6-617PGeneProductENSG00000251956 (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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