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