2q13 copy number variation syndrome (Homo sapiens)

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Cell4747474747Extracelullar space7, 135524629, 4352421211, 35411473120495440473, 23, 32, 426, 22, 25, 37, 55458, 15, 24525211282, 10, 17, 36, 5052144752716, 5152474352518, 30, 34, 38, 39544, 5333, 4847EndosomeExtracellularPeroxisomeAGExact function unknownExact function unknownMitochondrialprotein importRAC1ApoptosisIL36RNBCL2L11Peroxisomal lipid metabolismPOLR1BNa+POLR2KCHCHD5immature T cellproliferation in thymusSOCS3extracellular matrixproteinsIL36Bmitotic spindleassemblyMIR4771-1ARF6GAS6ACOXLPOLR1FPOLR1HodontoblastPOLR1AIL1F10ZC3H6IL1RNMAPK1FADtranscription elongation factor complexRN7SL297PIL1BTTLRPL5P9APC/C complexRNU6-1180PARL14HMGN2P23GDPactin cytoskeleton reorganization IL36AANAPC1MIR4435-1POLR1GGRB2IL-1 signaling pathwayAnti-inflammatorycytokinesIL2SLC20A1ACOXLNT5DC4RNA pol I holoenzymemacrophageIL6IL36GPOLR1BmicrotubulePOLR2LPLCG2GATA3IL1RAPCXCL13STAT1innate immune responsePOLR1CIL1APOLR2ECSF2IL36RNPisnRNA transcription by RNA polymerase IIRegulation of mitotic cell cycleFBLN7Carboxyterminalpost-translationalmodifications of tubulinIL1RAPPOLR2HCSF1IL1R1IL23ACKAP2LPSD4IL1RL2SLC20A1TMEM87BEpithelial inflammatory responsePOLR1DMIR4435-1HGRGPD8RPS14P4IL37dendritic cellPOLR1ETULP1Canonical NF-kB pathwayPOLR2FMIR4435-2SOCS1LGALS3MAPK cascadeRNA Polymerase I TranscriptionPTK2MERTKMIR4771-2ZC3H8Teeth developmentimmunomodulationPTK2MAPK1RAC121Na+Pi555555512269B cell proliferation19ARF6ARL14proteinschr2:111,490,150chr2:96,097,383713LegendTranslocationGene 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 proteinPseudogeneGTPGDPGDPGTPGTPNEUROPATHOLOGY6, 22, 25, 37, 55Data node for associated neuropathologyFILIPPI SYNDROME; FLPIS


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
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)
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)
NEUROPATHOLOGY
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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