2q37 copy number variation syndrome Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP5224.html
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Genes

136 proteins participating in the 2q37 copy number variation syndrome pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACKR3 atypical chemokine receptor 3
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGXT alanine-glyoxylate aminotransferase
ANKMY1 ankyrin repeat and MYND domain containing 1
ANO7 anoctamin 7
AQP12A aquaporin 12A
AQP12B aquaporin 12B
ARF1 ADP-ribosylation factor 1
ARF5 ADP-ribosylation factor 5
ARL4C ADP-ribosylation factor-like 4C
ASB1 ankyrin repeat and SOCS box containing 1
ASB18 ankyrin repeat and SOCS box containing 18
ASCL1 achaete-scute family bHLH transcription factor 1
ATG4B autophagy related 4B, cysteine peptidase
BOK BCL2-related ovarian killer
CALCA calcitonin-related polypeptide alpha
CALCRL calcitonin receptor-like
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CAPN10 calpain 10
CENPA centromere protein A
CFLAR CASP8 and FADD-like apoptosis regulator
COL6A3 collagen, type VI, alpha 3
COPS8 COP9 signalosome subunit 8
COPS9 COP9 signalosome subunit 9
CXCL11 chemokine (C-X-C motif) ligand 11
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYTH1 cytohesin 1
CYTH2 cytohesin 2
CYTH3 cytohesin 3
CYTH4 cytohesin 4
D2HGDH D-2-hydroxyglutarate dehydrogenase
DGKD diacylglycerol kinase, delta 130kDa
DISC1 disrupted in schizophrenia 1
DTYMK deoxythymidylate kinase (thymidylate kinase)
DUSP28 dual specificity phosphatase 28
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
EGFR epidermal growth factor receptor
ERFE erythroferrone
ESPNL espin-like
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
GABARAP GABA(A) receptor-associated protein
GABARAPL1 GABA(A) receptor-associated protein like 1
GABARAPL2 GABA(A) receptor-associated protein-like 2
GAL3ST2 galactose-3-O-sulfotransferase 2
GBX2 gastrulation brain homeobox 2
GMEB1 glucocorticoid modulatory element binding protein 1
GPC1 glypican 1
GPR35 G protein-coupled receptor 35
GYS1 glycogen synthase 1 (muscle)
HAMP hepcidin antimicrobial peptide
HDAC4 histone deacetylase 4
HDLBP high density lipoprotein binding protein
HES1 hes family bHLH transcription factor 1
HES6 hes family bHLH transcription factor 6
HJURP Holliday junction recognition protein
IFT54 intraflagellar transport 54
IL13RA1 interleukin 13 receptor, alpha 1
IL1B interleukin 1, beta
ILK integrin-linked kinase
ILKAP integrin-linked kinase-associated serine/threonine phosphatase
ING5 inhibitor of growth family, member 5
IQCA1 IQ motif containing with AAA domain 1
IRF8 interferon regulatory factor 8
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITPK1 inositol-tetrakisphosphate 1-kinase
JUN jun proto-oncogene
KIF1A kinesin family member 1A
KLHL30 kelch-like family member 30
LRRFIP1 leucine rich repeat (in FLII) interacting protein 1
MAB21L4 mab-21 like 4
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAP1LC3C microtubule-associated protein 1 light chain 3 gamma
MAP4 microtubule-associated protein 4
MEF2A myocyte enhancer factor 2A
MEF2C myocyte enhancer factor 2C
MLPH melanophilin
MROH2A maestro heat-like repeat family member 2A
MSL3P1 male-specific lethal 3 homolog (Drosophila) pseudogene 1
MTERF4 mitochondrial transcription termination factor 4
MYO5A myosin VA (heavy chain 12, myoxin)
MYOD1 myogenic differentiation 1
MYOG myogenin (myogenic factor 4)
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NEDD8 neural precursor cell expressed, developmentally down-regulated 8
NEU4 sialidase 4
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
OR6B2 olfactory receptor, family 6, subfamily B, member 2
OR6B3 olfactory receptor, family 6, subfamily B, member 3
OTOS otospiralin
PASK PAS domain containing serine/threonine kinase
PDCD1 programmed cell death 1
PDGFA platelet-derived growth factor alpha polypeptide
PDX1 pancreatic and duodenal homeobox 1
PER2 period circadian clock 2
PPP1R7 protein phosphatase 1, regulatory subunit 7
PRL prolactin
PRLH prolactin releasing hormone
RAB17 RAB17, member RAS oncogene family
RAB27A RAB27A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAMP1 receptor (G protein-coupled) activity modifying protein 1
RBM44 RNA binding motif protein 44
RNPEPL1 arginyl aminopeptidase (aminopeptidase B)-like 1
RPS6 ribosomal protein S6
RRAGA Ras-related GTP binding A
RRAGB Ras-related GTP binding B
RRAGC Ras-related GTP binding C
RRAGD Ras-related GTP binding D
RTP5 receptor (chemosensory) transporter protein 5 (putative)
SCLY selenocysteine lyase
SEPTIN12 septin 12
SEPTIN2 septin 2
SEPTIN4 septin 4
SEPTIN6 septin 6
SH3BP4 SH3-domain binding protein 4
SNED1 sushi, nidogen and EGF-like domains 1
SPP2 secreted phosphoprotein 2, 24kDa
STK25 serine/threonine kinase 25
THAP4 THAP domain containing 4
TNF tumor necrosis factor
TP53 tumor protein p53
TRAF3 TNF receptor-associated factor 3
TRPM8 transient receptor potential cation channel, subfamily M, member 8
TWIST2 twist family bHLH transcription factor 2
UBE2F ubiquitin-conjugating enzyme E2F (putative)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
USP40 ubiquitin specific peptidase 40