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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