BDgene

Region Report

Basic Info
Region Name Chr 12
Chromosome Position chr12:0-133275309
No. of Studies (Positive/Negative/Trend)  3(0/3/0)

Region related studies (count: 3)
Reference Markers Statistical Values Author Comments Result Category
Badner, J. A.,2002 Meta analysis: Location: 14(112), Single Analysis MSP = 0.2,...... Meta analysis: Location: 14(112), Single Analysis MSP = 0.2, Best Analysis MSP = 0.08 More... No significant linkage was found in this region. No significant linkage was found in this region. Negative
Murphy, V. E.,2000 D12S361 Linkage analysis: broad model, NPL = -0.533, P-value = 0.71;...... Linkage analysis: broad model, NPL = -0.533, P-value = 0.71; narrow model, NPL = -0.518, P-value = 0.79 More... No significant linkage was found in this region. No significant linkage was found in this region. Negative
Avramopoulos, D., 2007 D12S373 (BPI, BPII), D12S373 (BPI, restricted) P-value = 0.04, NPL = 1.8, Dominant Max HLOD = 0.8, Reces...... P-value = 0.04, NPL = 1.8, Dominant Max HLOD = 0.8, Recessive Max HLOD = 0.84 in Ashkenazi pedigrees; P-value = 0.009, NPL = 2.42, Dominant Max HLOD = 1.14, Recessive Max HLOD = 2.05 in BPI-restricted pedigrees More... this region was elevated into a 'suggestive' result by stand...... this region was elevated into a 'suggestive' result by standard criteria; the CC genotype showed increased evidence of linkage, but GIST analysis did not achieve statistical significance More... Negative

Region related genes (count: 62)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
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)
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1 12q24.2-q24.3 1(1/0/0)
AEBP2 AE binding protein 2 12p12.3 1(1/0/0)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial) 12q24.12 3(3/0/0)
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4 12q24.32 1(0/1/0)
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)
KRT75 keratin 75, type II 12q13.13 1(0/1/0)
CSRNP2 cysteine-serine-rich nuclear protein 2 12q13.11-q13.12 1(0/1/0)
IGF1 insulin-like growth factor 1 (somatomedin C) 12q23.2 1(1/0/0)
KRT3 keratin 3, type II 12q13.13 1(1/0/0)
CUX2 cut-like homeobox 2 12q24.12 3(1/2/0)
FAM19A2 family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 12q14.1 1(0/1/0)
DUSP6 dual specificity phosphatase 6 12q22-q23 5(3/2/0)
IFT81 intraflagellar transport 81 12q24.13 1(0/0/1)
CACNB3 calcium channel, voltage-dependent, beta 3 subunit 12q13 1(0/0/1)
SCN8A sodium channel, voltage gated, type VIII alpha subunit 12q13.1 1(1/0/0)
RSRC2 arginine/serine-rich coiled-coil 2 12q24.31 2(1/1/0)
LMBR1L limb development membrane protein 1-like 12q13.12 1(0/0/1)
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3 12p13 2(1/1/0)
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 12p13.1 8(4/4/0)
LMO3 LIM domain only 3 (rhombotin-like 2) 12p13 3(2/1/0)
CAMKK2 calcium/calmodulin-dependent protein kinase kinase 2, beta 12q24.2 2(1/1/0)
GRIP1 glutamate receptor interacting protein 1 12q13.13 1(1/0/0)
PTPRO protein tyrosine phosphatase, receptor type, O 12p13-p12 1(0/1/0)
CMKLR1 chemokine-like receptor 1 12q23.3 1(0/1/0)
ANO2 anoctamin 2, calcium activated chloride channel 12p13.3 1(0/1/0)
PMCH pro-melanin-concentrating hormone 12q23.2 1(1/0/0)
CCDC65 coiled-coil domain containing 65 12q13.12 1(0/1/0)
HCAR3 hydroxycarboxylic acid receptor 3 12q24.31 1(0/1/0)
IFNG interferon, gamma 12q14 2(2/0/0)
DAO D-amino-acid oxidase 12q24.11 5(1/4/0)
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2) 12q23 1(0/1/0)
TSPAN8 tetraspanin 8 12q14.1-q21.1 2(1/0/1)
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 12q24 9(2/7/0)
SBNO1 strawberry notch homolog 1 (Drosophila) 12q24.31 1(0/1/0)
TPH2 tryptophan hydroxylase 2 12q15 13(10/3/0)
PITPNM2 phosphatidylinositol transfer protein, membrane-associated 2 12q24.31 1(0/1/0)
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 12p13.33 1(1/0/0)
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)
TUBA1B tubulin, alpha 1b 12q13.12 1(1/0/0)
CRY1 cryptochrome circadian clock 1 12q23-q24.1 2(1/1/0)
PLEKHA5 pleckstrin homology domain containing, family A member 5 12p12 1(1/0/0)
CLIP1 CAP-GLY domain containing linker protein 1 12q24.3 1(0/1/0)
PAWR PRKC, apoptosis, WT1, regulator 12q21.2 1(0/1/0)
FAM109A family with sequence similarity 109, member A 12q24.12 1(1/0/0)
ALG10B ALG10B, alpha-1,2-glucosyltransferase 12q12 1(0/1/0)
FAR2 fatty acyl CoA reductase 2 12p11.23 1(0/1/0)
HCAR2 hydroxycarboxylic acid receptor 2 12q24.31 1(0/1/0)
BHLHE41 basic helix-loop-helix family, member e41 12p12.1 3(2/1/0)
NCOR2 nuclear receptor corepressor 2 12q24 1(0/1/0)
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.3 20(17/3/0)
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)
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 12p12.2-p11.2 3(1/2/0)
NUP107 nucleoporin 107kDa 12q14 1(1/0/0)
KNTC1 kinetochore associated 1 12q24.31 1(0/1/0)
TIMELESS timeless circadian clock 12q13.3 3(0/3/0)
NTS neurotensin 12q21.31 1(0/1/0)
LINC00939 long intergenic non-protein coding RNA 939 12q24.32 1(0/0/1)

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Region: chr12:0..133275309 View in gBrowse
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