2q13 copy number variation syndrome (Homo sapiens)

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Cell3737373737Extracelullar space16, 245, 13, 463245358113243435248, 5319, 21, 22, 443737434, 12, 28, 31, 51435017, 551137499, 186, 15, 20, 26, 40432732362184314, 411, 10, 23, 39, 4237322534473343377, 54ExtracellularEndosomePeroxisomeAGExact function unknownExact function unknownIL37IL36BPOLR2HSOCS3IL1BIL6RPL5P9CXCL13STAT1Regulation of mitotic cell cycleMAPK cascadeZC3H6TULP1POLR2EIL1RAPactin cytoskeleton reorganization POLR1AMIR4771-2extracellular matrixACOXLTeeth developmentproteinsPOLR1BPLCG2GRB2mitotic spindleassemblyRNA Polymerase I TranscriptionMIR4435-1HGIL36GodontoblastPOLR1DPeroxisomal lipid metabolismmacrophageMERTKGATA3RNA pol I holoenzymeinnate immune responseSLC20A1PiRNU6-1180PNa+POLR1CCanonical NF-kB pathwayMIR4771-1IL36APOLR1BAnti-inflammatorycytokinesPTK2CSF1RAC1ZC3H8IL23APOLR2FAPC/C complexARL14IL1F10immature T cellproliferation in thymusEpithelial inflammatory responseIL36RNCarboxyterminalpost-translationalmodifications of tubulinFADIL1APOLR1FIL36RNMitochondrialprotein importIL-1 signaling pathwayPOLR1HPSD4POLR2LGDPSLC20A1NT5DC4IL1RL2ARF6RN7SL297PmicrotubulePOLR2KSOCS1dendritic cellTTLApoptosisimmunomodulationPOLR1EsnRNA transcription by RNA polymerase IIFBLN7IL1RNRPS14P4TMEM87BMIR4435-2MAPK1BCL2L11CHCHD5IL2GAS6RGPD8MIR4435-1LGALS3CSF2POLR1GACOXLANAPC1CKAP2LHMGN2P23transcription elongation factor complexIL1R1IL1RAPPTK2MAPK1RAC111Na+Pi3232323232323229338B cell proliferation30ARF6ARL14proteinschr2:111,490,15024chr2:96,097,38316LegendTranslocationGene 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 proteinPseudogeneGTPGDPGDPGTPGTP4, 12, 28, 31, 51


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)
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)
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

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