2q13 copy number variation syndrome (Homo sapiens)

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Cell3535353535Extracelullar space43, 5115625, 28, 47110, 1352354820395235936111122, 31, 33, 40, 49248, 24, 34, 38, 44523511467, 5552355252425223, 4819113529914, 21, 26, 273, 512, 1716, 18, 30, 53, 541245EndosomePeroxisomeAGExtracellularExact function unknownExact function unknownPOLR1GIL6LGALS3innate immune responseNT5DC4ACOXLmitotic spindleassemblyRAC1TULP1snRNA transcription by RNA polymerase IIPOLR2EIL36RNPLCG2Na+ARL14IL1RNRPS14P4odontoblastPTK2ANAPC1actin cytoskeleton reorganization ARF6Mitochondrialprotein importIL36GPOLR1DPOLR1HGATA3proteinsPOLR1CCKAP2LRNA Polymerase I TranscriptionIL1RL2IL1RAPIL23AIL1BIL1RAPHMGN2P23transcription elongation factor complexMIR4435-1MIR4771-2SLC20A1CHCHD5IL-1 signaling pathwayMIR4435-1HGPOLR1EIL1F10POLR1BCXCL13IL36RNPeroxisomal lipid metabolismimmature T cellproliferation in thymusCSF1RN7SL297PimmunomodulationZC3H8FADextracellular matrixRPL5P9PSD4RNU6-1180PIL37MERTKSTAT1POLR1AIL36BPiMAPK cascadeGRB2Carboxyterminalpost-translationalmodifications of tubulinIL1R1GDPMIR4771-1POLR2FIL2POLR2HMAPK1FBLN7CSF2SOCS3GAS6POLR2KBCL2L11SOCS1microtubuleRGPD8RNA pol I holoenzymeApoptosisTTLAPC/C complexIL36ARegulation of mitotic cell cycleTMEM87BPOLR1FPOLR2LAnti-inflammatorycytokinesmacrophageACOXLTeeth developmentSLC20A1POLR1BIL1Adendritic cellMIR4435-2ZC3H6Canonical NF-kB pathwayEpithelial inflammatory responsePTK2MAPK1RAC19Na+Pi11111111111111373250B cell proliferationARF641ARL14proteinschr2:111,490,150chr2:96,097,3835143GTPGDPGDPGTPGTP16, 18, 30, 53, 54FILIPPI SYNDROME; FLPISLegendTranslocationStimulation 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 productConversionBindingPseudogenePhosphorylated proteinComplexAssociated neuropathology


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 (DOI: 10.1002/ajmg.a.37269). 2q13 duplications also caused developmental delay. The abnormal head size in 2q13 could be explained by the changes in FBLN7 gene (DOI: 10.1002/ajmg.a.37269). At the same time, neuropsychiatric impairment in 2q13 may be associated with BCL2L11, ANAPC1, SLC1A1 and MERTK alterations (DOI: 10.1002/ajmg.b.32236).

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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 (Complex Portal)
ARF6ProteinENSG00000165527 (Ensembl)
ARL14ProteinENSG00000179674 (Ensembl)
Anti-inflammatory cytokines
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)
GeneProduct
Epithelial inflammatory response
FADMetaboliteCHEBI:57692 (ChEBI)
FBLN7GeneProductENSG00000144152 (Ensembl)
FILIPPI SYNDROME; FLPIS272440 (OMIM)
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)
Teeth development
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

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