2q13 copy number variation syndrome (Homo sapiens)

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Cell3535353535Extracelullar space43, 5114, 21, 26, 27354528, 24, 34, 38, 44523552291224816, 18, 30, 53, 543, 55225, 28, 4735464215114591110, 1315222, 31, 33, 40, 4935612, 1735361152920117, 5519395223, 48AGExtracellularEndosomePeroxisomeExact function unknownExact function unknownIL36AARL14CSF2IL36RNIL23AZC3H8POLR1AIL36BIL2SLC20A1POLR1HPOLR2LCarboxyterminalpost-translationalmodifications of tubulinSTAT1SLC20A1IL36GMIR4435-2PLCG2ANAPC1Canonical NF-kB pathwayNa+extracellular matrixIL37IL1F10IL1RNPOLR1BFADIL1RAPMitochondrialprotein importTTLACOXLimmunomodulationdendritic cellMERTKRN7SL297PPiPeroxisomal lipid metabolismMIR4771-1HMGN2P23RAC1MAPK cascadeAnti-inflammatorycytokinesRPS14P4CHCHD5mitotic spindleassemblyCXCL13IL1ASOCS3IL6ZC3H6POLR2KmacrophageIL1RAPtranscription elongation factor complexPOLR1DPOLR2EApoptosisinnate immune responseMAPK1CKAP2LPOLR1FGRB2actin cytoskeleton reorganization GDPPOLR1GPOLR1BARF6SOCS1RNU6-1180PMIR4771-2RGPD8CSF1microtubuleodontoblastIL1RL2PSD4TULP1ACOXLRegulation of mitotic cell cycleIL1BLGALS3Epithelial inflammatory responseTMEM87BPOLR2FPOLR2HGATA3RNA pol I holoenzymePOLR1CNT5DC4snRNA transcription by RNA polymerase IIproteinsIL36RNPTK2APC/C complexMIR4435-1HGTeeth developmentIL1R1POLR1ERPL5P9immature T cellproliferation in thymusIL-1 signaling pathwayBCL2L11MIR4435-1RNA Polymerase I TranscriptionGAS6FBLN7PTK2MAPK1RAC19Na+Pi11111111111111373250B cell proliferation41ARF6ARL14proteinschr2:111,490,150chr2:96,097,3835143GTPGDPGDPGTPGTP16, 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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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
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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