2q37 copy number variation syndrome (WP5224)

Homo sapiens

The 2q37 copy number variation syndrome can result in the loss of up to 78 protein-coding genes. Patients with 2q37 CNV syndrome had intellectual disability, facial dysmorphism and skeletal and digit malformations (DOI: 10.1186/1755-8794-7-19,DOI: 10.1016/j.gene.2013.06.056). Research linked changes in HDAC4 gene with obesity of 2q37 patients (DOI: 10.1016/j.gene.2013.06.056). The chromosomal locations are from Kirov et al. 2014 (literature cited there) (chr2:239,716,679-243,199,373) and the larger one from Sakai et al. 2014 (chr2:234,275,216-243,199,373).

Authors

Daria Shumkova , Friederike Ehrhart , Egon Willighagen , and Eric Weitz

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

chromosomal deletion syndrome chromosomal duplication syndrome chromosome 2q37 deletion syndrome disease of mental health

Participants

Label Type Compact URI Comment
proteins Metabolite chebi:36080
GDP Metabolite chebi:17552
PIP3 Metabolite chebi:16618
dTMP Metabolite chebi:63528
dTDP Metabolite chebi:58369
peroxynitrite Metabolite chebi:25941
nitrate Metabolite chebi:17632
(R)-2-hydroxyglutarate Metabolite chebi:15801
2-oxoglutarate Metabolite chebi:16810
Phosphatidic acid Metabolite chebi:58608
H2O Metabolite chebi:15377
Acceptor beta-D-glucuronoside Metabolite chebi:132367
Heparan sulfate group Metabolite chebi:157750
Phosphatidylserine Metabolite chebi:57262
kynurenic acid Metabolite wikidata:Q642217
Ca2+ Metabolite chebi:29108
Glucuronate acceptor Metabolite chebi:132368
L-selenocysteine Metabolite chebi:57843
L-alanine Metabolite chebi:57972
1,2-diacyl-sn-glycerols Metabolite chebi:17815
cholesterol Metabolite chebi:16113
Na+ Metabolite chebi:29101
Pyruvate Metabolite chebi:15361
Galactosylceramide Metabolite chebi:18390
Phosphatidylcholine Metabolite chebi:57643
PIP2 Metabolite chebi:18348
GTP Metabolite chebi:37565
AGAP1-IT1 GeneProduct ensembl:ENSG00000235529
SNED1 GeneProduct ensembl:ENSG00000162804
MYEOV2 GeneProduct ensembl:ENSG00000172428
OR5S1P GeneProduct ensembl:ENSG00000213048
PDCD1 GeneProduct ensembl:ENSG00000188389
MLPH GeneProduct ensembl:ENSG00000115648
OR9S24P GeneProduct ensembl:ENSG00000231278
UGT1A10 GeneProduct ensembl:ENSG00000242515
HSPE1P9 GeneProduct ensembl:ENSG00000232690
SPP2 GeneProduct ensembl:ENSG00000072080
USP40 GeneProduct ensembl:ENSG00000085982
MIR4786 GeneProduct ensembl:ENSG00000264279
RN7SL204P GeneProduct ensembl:ENSG00000264676
UGT1A13P GeneProduct ensembl:ENSG00000234143
ANKMY1 GeneProduct ensembl:ENSG00000144504
DUSP28 GeneProduct ensembl:ENSG00000188542
ACKR3 GeneProduct ensembl:ENSG00000144476
SH3BP4 GeneProduct ensembl:ENSG00000130147
UBE2F GeneProduct ensembl:ENSG00000184182
RNU1-31P GeneProduct ensembl:ENSG00000200745
FAM132B GeneProduct ensembl:ENSG00000178752
RAB17 GeneProduct ensembl:ENSG00000124839
ATG4B GeneProduct ensembl:ENSG00000168397
DNAJB3 GeneProduct ensembl:ENSG00000227802
RAMP1 GeneProduct ensembl:ENSG00000132329
ASB18 GeneProduct ensembl:ENSG00000182177
PRR21 GeneProduct ensembl:ENSG00000260610
RNU6-1051P GeneProduct ensembl:ENSG00000202341
HDAC4 GeneProduct ensembl:ENSG00000068024
DTYMK GeneProduct ensembl:ENSG00000168393
ARL4C GeneProduct ensembl:ENSG00000188042
RBM44 GeneProduct ensembl:ENSG00000177483
UGT1A5 GeneProduct ensembl:ENSG00000240224
NDUFA10 GeneProduct ensembl:ENSG00000130414
OTOS GeneProduct ensembl:ENSG00000178602
STK25 GeneProduct ensembl:ENSG00000115694
D2HGDH GeneProduct ensembl:ENSG00000180902
UGT1A2P GeneProduct ensembl:ENSG00000228445
AGAP1 GeneProduct ensembl:ENSG00000157985
OR6B3 GeneProduct ensembl:ENSG00000178586
GBX2 GeneProduct ensembl:ENSG00000168505
RNU6-1333P GeneProduct ensembl:ENSG00000251971
MIR4269 GeneProduct ensembl:ENSG00000265215
CAPN10-AS1 GeneProduct ensembl:ENSG00000260942
C2orf54 GeneProduct ensembl:ENSG00000172478
KLHL30 GeneProduct ensembl:ENSG00000168427
HDLBP GeneProduct ensembl:ENSG00000115677
ILKAP GeneProduct ensembl:ENSG00000132323
UGT1A6 GeneProduct ensembl:ENSG00000167165
TRAF3IP1 GeneProduct ensembl:ENSG00000204104
TMSB10P1 GeneProduct ensembl:ENSG00000228499
COL6A3 GeneProduct ensembl:ENSG00000163359
RNU7-127P GeneProduct ensembl:ENSG00000238812
CAPN10 GeneProduct ensembl:ENSG00000142330
MIR4440 GeneProduct ensembl:ENSG00000266109
PER2 GeneProduct ensembl:ENSG00000132326
UBE2F-SCLY GeneProduct ensembl:ENSG00000258984
UGT1A11P GeneProduct ensembl:ENSG00000227846
UGT1A8 GeneProduct ensembl:ENSG00000241635
RPL17P11 GeneProduct ensembl:ENSG00000233445
GPR35 GeneProduct ensembl:ENSG00000178623
OR6B2 GeneProduct ensembl:ENSG00000182083
AQP12A GeneProduct ensembl:ENSG00000184945
BOK GeneProduct ensembl:ENSG00000176720
IQCA1 GeneProduct ensembl:ENSG00000132321
GPC1 GeneProduct ensembl:ENSG00000063660
LRRFIP1 GeneProduct ensembl:ENSG00000124831
LINC01107 GeneProduct ensembl:ENSG00000225493
HES6 GeneProduct ensembl:ENSG00000144485
PASK GeneProduct ensembl:ENSG00000115687
RNU6-234P GeneProduct ensembl:ENSG00000202099
MIR2467 GeneProduct ensembl:ENSG00000264292
RNA5SP122 GeneProduct ensembl:ENSG00000207186
CXXC11 GeneProduct ensembl:ENSG00000188011
NEU4 GeneProduct ensembl:ENSG00000204099
TRPM8 GeneProduct ensembl:ENSG00000144481
ING5 GeneProduct ensembl:ENSG00000168395
FARP2 GeneProduct ensembl:ENSG00000006607
CALCRL GeneProduct ensembl:ENSG00000064989
RNPEPL1 GeneProduct ensembl:ENSG00000142327
MIR149 GeneProduct ensembl:ENSG00000207611
MTERFD2 GeneProduct ensembl:ENSG00000122085
MSL3P1 GeneProduct ensembl:ENSG00000224287
DGKD GeneProduct ensembl:ENSG00000077044
AGXT GeneProduct ensembl:ENSG00000172482
THAP4 GeneProduct ensembl:ENSG00000176946
GAL3ST2 GeneProduct ensembl:ENSG00000154252
MIR4441 GeneProduct ensembl:ENSG00000264810
UGT1A1 GeneProduct ensembl:ENSG00000242366
MIR3133 GeneProduct ensembl:ENSG00000263752
HJURP GeneProduct ensembl:ENSG00000123485
SCLY GeneProduct ensembl:ENSG00000132330
COPS8 GeneProduct ensembl:ENSG00000198612
UGT1A7 GeneProduct ensembl:ENSG00000244122
ESPNL GeneProduct ensembl:ENSG00000144488
MROH2A GeneProduct ensembl:ENSG00000185038
UGT1A3 GeneProduct ensembl:ENSG00000243135
TWIST2 GeneProduct ensembl:ENSG00000233608
UGT1A12P GeneProduct ensembl:ENSG00000228949
RNU6-1140P GeneProduct ensembl:ENSG00000222449
BOK-AS1 GeneProduct ensembl:ENSG00000234235
RPL3P5 GeneProduct ensembl:ENSG00000231546
PRLH GeneProduct ensembl:ENSG00000071677
CICP10 GeneProduct ensembl:ENSG00000224160
KIF1A GeneProduct ensembl:ENSG00000130294
UGT1A9 GeneProduct ensembl:ENSG00000241119
PPP1R7 GeneProduct ensembl:ENSG00000115685
UGT1A4 GeneProduct ensembl:ENSG00000244474
AQP12B GeneProduct ensembl:ENSG00000185176
SEPT2 GeneProduct ensembl:ENSG00000168385
ANO7 GeneProduct ensembl:ENSG00000146205
ASB1 GeneProduct ensembl:ENSG00000065802
MYO5A Protein ensembl:ENSG00000197535
UDP-glucuronosyl/UDP-glucosyltransferase Protein interpro:IPR002213
MAP4 Protein ensembl:ENSG00000047849
GABARAP Protein ensembl:ENSG00000170296
CFLAR Protein ensembl:ENSG00000003402
GMEB1 Protein ensembl:ENSG00000162419
GABARAPL1 Protein ensembl:ENSG00000139112
CALM1 Protein ensembl:ENSG00000198668
GABARAPL2 Protein ensembl:ENSG00000034713
MAP1LC3C Protein ensembl:ENSG00000197769
MAP1LC3A Protein ensembl:ENSG00000101460
ABCA1 Protein ensembl:ENSG00000165029
MAP1LC3B Protein ensembl:ENSG00000140941
MEF2C Protein ensembl:ENSG00000081189
NFKBIA Protein ensembl:ENSG00000100906
NEDD8 Protein ensembl:ENSG00000129559
TNF Protein ensembl:ENSG00000232810
SH3BP4 Protein ensembl:ENSG00000130147
ARF1 Protein ensembl:ENSG00000143761
CXCR4 Protein ensembl:ENSG00000121966
SEPTIN2 Protein ensembl:ENSG00000168385
PDX1 Protein ensembl:ENSG00000139515
EEF1A1 Protein ensembl:ENSG00000156508
RAMP1 Protein ensembl:ENSG00000132329
RAB27A Protein ensembl:ENSG00000069974
MEF2A Protein ensembl:ENSG00000068305
HAMP Protein ensembl:ENSG00000105697
TRPM8 Protein ensembl:ENSG00000144481
IL13RA1 Protein ensembl:ENSG00000131724
RRAGC Protein ensembl:ENSG00000116954
EGFR Protein ensembl:ENSG00000146648
GPC1 Protein ensembl:ENSG00000063660
SEPTIN12 Protein ensembl:ENSG00000140623
PRL Protein ensembl:ENSG00000172179
RAC1 Protein ensembl:ENSG00000136238
HES1 Protein ensembl:ENSG00000114315
RRAGD Protein ensembl:ENSG00000025039
CALCA Protein ensembl:ENSG00000110680
CXCL12 Protein ensembl:ENSG00000107562
JUN Protein ensembl:ENSG00000177606
RRAGB Protein ensembl:ENSG00000083750
MLPH Protein ensembl:ENSG00000115648
CYTH1 Protein ensembl:ENSG00000108669
ANO7 Protein ensembl:ENSG00000146205
TRAF3 Protein ensembl:ENSG00000131323
MYOD1 Protein ensembl:ENSG00000129152
CENPA Protein ensembl:ENSG00000115163
ITGB3 Protein ensembl:ENSG00000259207
ARF5 Protein ensembl:ENSG00000004059
CXCL11 Protein ensembl:ENSG00000169248
SEPTIN6 Protein ensembl:ENSG00000125354
MYOG Protein ensembl:ENSG00000122180
SEPTIN4 Protein ensembl:ENSG00000108387
TP53 Protein ensembl:ENSG00000141510
DISC1 Protein ensembl:ENSG00000162946
ITPK1 Protein ensembl:ENSG00000100605
PDGFA Protein ensembl:ENSG00000197461
AQP12A Protein ensembl:ENSG00000184945
RPS6 Protein ensembl:ENSG00000137154
IRF8 Protein ensembl:ENSG00000140968
IL1B Protein ensembl:ENSG00000125538
ILK Protein ensembl:ENSG00000166333
GYS1 Protein ensembl:ENSG00000104812
ASCL1 Protein ensembl:ENSG00000139352
RRAGA Protein ensembl:ENSG00000155876
ARL4C Protein ensembl:ENSG00000188042
CYTH2 Protein ensembl:ENSG00000105443
CYTH4 Protein ensembl:ENSG00000100055
CYTH3 Protein ensembl:ENSG00000008256
AQP12B Protein ensembl:ENSG00000185176

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