15q11q13 copy number variation Gene Set

Dataset WikiPathways Pathways 2024
Category structural or functional annotations
Type pathway
External Link https://www.wikipathways.org/pathways/WP5407.html
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Genes

58 proteins participating in the 15q11q13 copy number variation pathway from the WikiPathways Pathways 2024 dataset.

Symbol Name
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle)
APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2
APP amyloid beta (A4) precursor protein
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CANX calnexin
CCL5 chemokine (C-C motif) ligand 5
CDC42BPB CDC42 binding protein kinase beta (DMPK-like)
CGN cingulin
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CREBBP CREB binding protein
CXADR coxsackie virus and adenovirus receptor
DNMBP dynamin binding protein
EID3 EP300 interacting inhibitor of differentiation 3
ENTREP2 endosomal transmembrane epsin interactor 2
FAN1 FANCD2/FANCI-associated nuclease 1
FANCD2 Fanconi anemia, complementation group D2
FANCI Fanconi anemia, complementation group I
GJA1 gap junction protein, alpha 1, 43kDa
GJC2 gap junction protein, gamma 2, 47kDa
GJD3 gap junction protein, delta 3, 31.9kDa
GOLGA8H golgin A8 family, member H
GOLGA8J golgin A8 family, member J
GOLGA8K golgin A8 family, member K
GOLGA8O golgin A8 family, member O
GOLGA8Q golgin A8 family, member Q
GOLGA8R golgin A8 family, member R
GOLGA8T golgin A8 family, member T
HDAC1 histone deacetylase 1
KAT2B K(lysine) acetyltransferase 2B
KLF13 Kruppel-like factor 13
LYPD6 LY6/PLAUR domain containing 6
MITF microphthalmia-associated transcription factor
MTMR10 myotubularin related protein 10
MYZAP myocardial zonula adherens protein
NECAB3 N-terminal EF-hand calcium binding protein 3
NSMCE1 non-SMC element 1 homolog (S. cerevisiae)
NSMCE2 non-SMC element 2, MMS21 homolog (S. cerevisiae)
NSMCE3 NSE3 homolog, SMC5-SMC6 complex component
OCLN occludin
OTUD7A OTU deubiquitinase 7A
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RIC3 RIC3 acetylcholine receptor chaperone
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SIN3A SIN3 transcription regulator family member A
SLF1 SMC5-SMC6 complex localization factor 1
SLF2 SMC5-SMC6 complex localization factor 2
SMC5 structural maintenance of chromosomes 5
SMC6 structural maintenance of chromosomes 6
SPEF1 sperm flagellar 1
STX1A syntaxin 1A (brain)
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
TJP1 tight junction protein 1
TJP2 tight junction protein 2
TJP3 tight junction protein 3
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPM3 transient receptor potential cation channel, subfamily M, member 3
UBN1 ubinuclein 1