BDgene

Region Report

Basic Info
Region Name 12q23-q24
Chromosome Position chr12:95800000-133275309
No. of Studies (Positive/Negative/Trend)  3(2/0/1)

Region related studies (count: 3)
Reference Markers Statistical Values Author Comments Result Category
Curtis, D.,2003 D12S342 linkage analyses: three-point MALOD = 2.7, Nominal P-value =...... linkage analyses: three-point MALOD = 2.7, Nominal P-value = 0.0009; Peak HLOD = 2.8, UP dominant, Nominal P-value = 0.0007; LOD = 2.1 in pedigree6, LOD = 1.1 in pedigree7 More... Suggestive linkage was found in this region. Suggestive linkage was found in this region. Trend
Glaser, B.,2005(b) M6, M14, M7, M25, D12S1344, M23, M19 X2-test: P-value(CLUMP) = 0.0016 at M19 X2-test: P-value(CLUMP) = 0.0016 at M19 Significant associations were found at M19. Significant associations were found at M19. Positive
Green, E.,2005 D12S1127, D12S1646 Multipoint parametric linkage analysis: LOD = 4.77 Multipoint parametric linkage analysis: LOD = 4.77 Significant linkage was found in this region. Significant linkage was found in this region. Positive

Region related genes (count: 31)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) 12q23 1(0/1/0)
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 12q24.11 2(0/2/0)
NOS1 nitric oxide synthase 1 (neuronal) 12q24.22 8(2/5/1)
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 12q24 9(2/7/0)
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 12q24.2-q24.3 1(1/0/0)
SBNO1 strawberry notch homolog 1 (Drosophila) 12q24.31 1(0/1/0)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 12q24.12 3(3/0/0)
PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 12q24.31 1(0/1/0)
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4 12q24.32 1(0/1/0)
RFX4 regulatory factor X, 4 (influences HLA class II expression) 12q24 2(1/1/0)
DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 12q24.31 1(1/0/0)
PLA2G1B phospholipase A2, group IB (pancreas) 12q24.31 4(1/3/0)
CIT citron rho-interacting serine/threonine kinase 12q24.23 2(1/1/0)
IGF1 insulin-like growth factor 1 (somatomedin C) 12q23.2 1(1/0/0)
CRY1 cryptochrome circadian clock 1 12q23-q24.1 2(1/1/0)
CLIP1 CAP-GLY domain containing linker protein 1 12q24.3 1(0/1/0)
CUX2 cut-like homeobox 2 12q24.12 3(1/2/0)
FAM109A family with sequence similarity 109, member A 12q24.12 1(1/0/0)
IFT81 intraflagellar transport 81 12q24.13 1(0/0/1)
HCAR2 hydroxycarboxylic acid receptor 2 12q24.31 1(0/1/0)
RSRC2 arginine/serine-rich coiled-coil 2 12q24.31 2(1/1/0)
NCOR2 nuclear receptor corepressor 2 12q24 1(0/1/0)
CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta 12q24.2 2(1/1/0)
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 12q24.31 1(0/1/0)
CCDC92 coiled-coil domain containing 92 12q24.31 1(1/0/0)
CMKLR1 chemokine-like receptor 1 12q23.3 1(0/1/0)
KNTC1 kinetochore associated 1 12q24.31 1(0/1/0)
PMCH pro-melanin-concentrating hormone 12q23.2 1(1/0/0)
HCAR3 hydroxycarboxylic acid receptor 3 12q24.31 1(0/1/0)
DAO D-amino-acid oxidase 12q24.11 5(1/4/0)
LINC00939 long intergenic non-protein coding RNA 939 12q24.32 1(0/0/1)

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