2q13 copy number variation syndrome (Homo sapiens)

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Cell2828282828Extracelullar space13, 36154939165, 18, 32, 37, 4810, 17, 40, 44, 53491621411, 23, 31, 4516492816820, 511628284921, 461224, 7, 9, 27, 386, 43122825162819433042, 5422293, 24, 33554134, 5016EndosomeAGPeroxisomeExtracellularExact function unknownTeeth developmentExact function unknownEpithelial inflammatory responseAnti-inflammatorycytokinesMIR4771-1POLR1BAPC/C complexNT5DC4POLR1DproteinsGAS6MERTKMIR4435-1Carboxyterminalpost-translationalmodifications of tubulinRAC1IL23APeroxisomal lipid metabolismPTK2IL36RNtranscription elongation factor complexPOLR2HmicrotubuleARL14RNA Polymerase I TranscriptionANAPC1IL-1 signaling pathwayIL36BHMGN2P23CXCL13ZC3H6GRB2POLR1FCHCHD5MIR4435-1HGIL1RNmitotic spindleassemblyPOLR1GIL2IL36RNTULP1POLR2EPSD4innate immune responseMIR4771-2extracellular matrixCanonical NF-kB pathwaySOCS1LGALS3BCL2L11Na+TTLIL36AMAPK cascadeRPS14P4IL1RAPIL1ASLC20A1POLR2FRegulation of mitotic cell cycleACOXLPOLR1AACOXLCSF1POLR1HIL1R1IL6RN7SL297PPOLR2KSOCS3MAPK1CKAP2LTMEM87BZC3H8POLR1ERNA pol I holoenzymeIL1BMIR4435-2IL1RL2GATA3IL1F10macrophagesnRNA transcription by RNA polymerase IIodontoblastIL37RGPD8POLR1BPiMitochondrialprotein importGDPimmature T cellproliferation in thymusRPL5P9FADPLCG2dendritic cellApoptosisPOLR1CRNU6-1180PimmunomodulationIL1RAPARF6actin cytoskeleton reorganization CSF2IL36GPOLR2LSTAT1FBLN7SLC20A1PTK2MAPK1RAC122Na+Pi49494949494949354726B cell proliferation52ARF6ARL14proteinschr2:111,490,150chr2:96,097,3831336LegendTranslocationGene 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 enzymePathwayComplexMIM-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 geneproteinsPhosphorylated proteinPseudogeneGTPGDPGDPGTPGTP5, 18, 32, 37, 48


Description

The 2q13 copy number variation syndrome can result in the loss of up to 25 protein-coding genes. Patients with 2q13 deletions and duplications had abnormal head size and dysmorphic features. 2q13 duplications also caused developmental delay. The abnormal head size in 2q13 could be explained by the changes in FBLN7 gene. At the same time, neuropsychiatric impairment in 2q13 may be associated with BCL2L11, ANAPC1, SLC1A1 and MERTK alterations.

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Bibliography

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History

View all...
CompareRevisionActionTimeUserComment
134652view09:14, 24 July 2024EgonwAdded the missing OMIM data source for a given identifier
134549view21:47, 22 July 2024EweitzAdd missing database names
134548view21:41, 22 July 2024EweitzOntology Term : 'chromosomal duplication syndrome' added !
134547view21:40, 22 July 2024EweitzOntology Term : 'chromosomal deletion syndrome' added !
134546view21:39, 22 July 2024EweitzRefine legend
122737view12:50, 7 May 2022Shad4Added neuropathologies
122625view09:51, 22 April 2022Shad4Modified description
122601view18:22, 20 April 2022Shad4Converted labels into processes without id and database
122598view12:37, 20 April 2022FehrhartOntology Term : 'disease pathway' added !
122551view11:28, 15 April 2022Shad4New pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ACOXLProteinENSG00000153093 (Ensembl)
ANAPC1GeneProductENSG00000153107 (Ensembl)
APC/C complexComplexCPX-1860
ARF6ProteinENSG00000165527 (Ensembl)
ARL14ProteinENSG00000179674 (Ensembl)
ApoptosisPathwayWP254 (WikiPathways)
B cell proliferationQ14863410 (Wikidata)
BCL2L11GeneProductENSG00000153094 (Ensembl)
CHCHD5GeneProductENSG00000125611 (Ensembl)
CKAP2LGeneProductENSG00000169607 (Ensembl)
CSF1ProteinENSG00000184371 (Ensembl)
CSF2ProteinENSG00000164400 (Ensembl)
CXCL13ProteinENSG00000156234 (Ensembl)
Canonical NF-kB pathwayPathwayWP4562 (WikiPathways)
Carboxyterminal

post-translational

modifications of tubulin		PathwayWP4075 (WikiPathways)
FADMetaboliteCHEBI:57692 (ChEBI)
FBLN7GeneProductENSG00000144152 (Ensembl)
GAS6ProteinENSG00000183087 (Ensembl)
GATA3ProteinENSG00000107485 (Ensembl)
GDPMetaboliteCHEBI:17552 (ChEBI)
GRB2ProteinENSG00000177885 (Ensembl)
GTPMetaboliteCHEBI:37565 (ChEBI)
HMGN2P23GeneProductENSG00000236124 (Ensembl)
IL-1 signaling pathwayPathwayWP195 (WikiPathways)
IL1AGeneProductENSG00000115008 (Ensembl)
IL1BGeneProductENSG00000125538 (Ensembl)
IL1F10GeneProductENSG00000136697 (Ensembl)
IL1R1ProteinENSG00000115594 (Ensembl)
IL1RAPProteinENSG00000196083 (Ensembl)
IL1RL2ProteinENSG00000115598 (Ensembl)
IL1RNGeneProductENSG00000136689 (Ensembl)
IL23AProteinENSG00000110944 (Ensembl)
IL2ProteinENSG00000109471 (Ensembl)
IL36AGeneProductENSG00000136694 (Ensembl)
IL36BGeneProductENSG00000136696 (Ensembl)
IL36GGeneProductENSG00000136688 (Ensembl)
IL36RNGeneProductENSG00000136695 (Ensembl)
IL37GeneProductENSG00000125571 (Ensembl)
IL6ProteinENSG00000136244 (Ensembl)
LGALS3ProteinENSG00000131981 (Ensembl)
MAPK cascadePathwayWP422 (WikiPathways)
MAPK1ProteinENSG00000100030 (Ensembl)
MERTKGeneProductENSG00000153208 (Ensembl)
MIR4435-1GeneProductENSG00000266139 (Ensembl)
MIR4435-1HGGeneProductENSG00000172965 (Ensembl)
MIR4435-2GeneProductENSG00000266139 (Ensembl)
MIR4771-1GeneProductENSG00000266063 (Ensembl)
MIR4771-2GeneProductENSG00000266063 (Ensembl)
Mitochondrial protein importPathwayWP2717 (WikiPathways)
NT5DC4GeneProductENSG00000144130 (Ensembl)
Na+MetaboliteCHEBI:29101 (ChEBI)
PLCG2GeneProductENSG00000197943 (Ensembl)
POLR1AGeneProductENSG00000068654 (Ensembl)
POLR1BGeneProductENSG00000125630 (Ensembl)
POLR1CGeneProductENSG00000171453 (Ensembl)
POLR1DGeneProductENSG00000186184 (Ensembl)
POLR1EGeneProductENSG00000137054 (Ensembl)
POLR1FGeneProductENSG00000105849 (Ensembl)
POLR1GGeneProductENSG00000117877 (Ensembl)
POLR1HGeneProductENSG00000066379 (Ensembl)
POLR2EGeneProductENSG00000099817 (Ensembl)
POLR2FGeneProductENSG00000100142 (Ensembl)
POLR2HGeneProductENSG00000163882 (Ensembl)
POLR2KGeneProductENSG00000147669 (Ensembl)
POLR2LGeneProductENSG00000177700 (Ensembl)
PSD4GeneProductENSG00000125637 (Ensembl)
PTK2ProteinENSG00000169398 (Ensembl)
Peroxisomal lipid metabolismPathwayWP1878 (WikiPathways)
PiMetaboliteCHEBI:43474 (ChEBI)
RAC1ProteinENSG00000136238 (Ensembl)
RGPD8GeneProductENSG00000169629 (Ensembl)
RN7SL297PGeneProductENSG00000240183 (Ensembl)
RNA Polymerase I TranscriptionPathwayWP4074 (WikiPathways)
RNA pol I holoenzymeComplex
RNU6-1180PGeneProductENSG00000201805 (Ensembl)
RPL5P9GeneProductENSG00000236330 (Ensembl)
RPS14P4GeneProductENSG00000226928 (Ensembl)
Regulation of mitotic cell cyclePathwayWP4109 (WikiPathways)
SLC20A1GeneProductENSG00000144136 (Ensembl)
SOCS1ProteinENSG00000185338 (Ensembl)
SOCS3ProteinENSG00000184557 (Ensembl)
STAT1GeneProductENSG00000115415 (Ensembl)
TMEM87BGeneProductENSG00000153214 (Ensembl)
TTLGeneProductENSG00000114999 (Ensembl)
TULP1ProteinENSG00000112041 (Ensembl)
ZC3H6GeneProductENSG00000188177 (Ensembl)
ZC3H8GeneProductENSG00000144161 (Ensembl)
actin cytoskeleton reorganization Q14908027 (Wikidata)
dendritic cellQ506253 (Wikidata)
extracellular matrixQ193825 (Wikidata)
immature T cell proliferation in thymusQ15321801 (Wikidata)
immunomodulationQ27788458 (Wikidata)
innate immune responseQ428253 (Wikidata)
macrophageQ184204 (Wikidata)
microtubuleQ189933 (Wikidata)
mitotic spindle assemblyQ14912279 (Wikidata)
odontoblastQ853338 (Wikidata)
proteinsMetaboliteCHEBI:36080 (ChEBI)
snRNA transcription by RNA polymerase IIQ21114367 (Wikidata)
transcription elongation factor complexComplexQ15314914 (Wikidata)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5222"
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