PhenoModifier-Gene Detail

Gene "ARG2"

Found 4 records

Gene information

Gene symbol:

ARG2

See related:

Ensembl: ENSG00000081181, Gene ID: 384

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	MSH4 FAU SLC3A1 MON1B REXO5 STAM2 ZDHHC4 ARL9 DNAJC17 SORT1 PEF1 ASH1L CSNK2A2 SUCLG2 SBF1 RMND5B TGIF2 RTF1 TRMT11 PHB2 LETM1 AMD1 BIN3 CAMK2D RPS28 ELP1 BRAP SLC13A4 ABHD11 ISYNA1 CYC1 PPIAL4A COPS5 CNDP1 TBC1D20 SFN RAB7A OGFOD1 PRDX1 CDC73 MAPKAPK5 DDX21 CHMP3 IAH1 UBL5 GLRX2 ADAP2 TOMM70 YPEL2 MTFMT CLPB PITRM1 RRAGA PDP2 SUCO MTHFR LEO1 TXNL1 KDM4A SLC2A10 ATP2B1 MAT2A show allhide
Negative interactions	XPA SBK1 RPL17-C18orf32 PQLC2L PUM3 PIM3 ABHD2 XPC RACK1 PDHA2 SLC25A17 AKT1 EP400 NUDT13 VAT1L HDAC7 GLRX2 STRIP2 LIPT2 CLPB RPL34 HAO2 XPO5 H3F3C NTHL1 RNASEH2A DTD1 GLRX3 GEN1 EPS15 PPP6R3 PAAF1 ALPL ZFP42 SUB1 POMT2 VAC14 GGT7 TRAPPC6A PBLD PDPK1 HELQ TALDO1 SRXN1 POMT2 UBA3 CWH43 MCCC1 MGLL RPL14 TTC37 RHOH RPS6 MAF1 RPS16 PRDX6 IDH2 VRK1 MOGS OSGEPL1 TRIT1 ABCC5 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(4)

Modifier effect:

Altered response to hydroxyurea(4)

Details：

Variant 1:

ARG2:c.*681A>G

Gene:

ARG2

Genomic location:

chr14:68117421

dbSNP ID:

rs10483802

Target disease:

Sickle Cell Anemia(DOID_10923)

Effect type:

Expressivity

Modifier effect:

Altered response to hydroxyurea

Evidence:

Codominant model: P=0.0052

Effect:

Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU

Reference:

PMID17299377

Title:

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.

Species studied:

Human

Abstract:

The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
Variant 2:

ARG2:c.*681A>G

Gene:

ARG2

Genomic location:

chr14:68117421

dbSNP ID:

rs10483802

Target disease:

Sickle Cell Anemia(DOID_10923)

Effect type:

Expressivity

Modifier effect:

Altered response to hydroxyurea

Evidence:

Recessive model: P=0.013

Effect:

Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU

Reference:

PMID17299377

Title:

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.

Species studied:

Human

Abstract:

The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
Variant 3:

ARG2:c.*1096G>T

Gene:

ARG2

Genomic location:

chr14:68117006

dbSNP ID:

rs10483801

Target disease:

Sickle Cell Anemia(DOID_10923)

Effect type:

Expressivity

Modifier effect:

Altered response to hydroxyurea

Evidence:

Codominant model: P=0.014

Effect:

Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU

Reference:

PMID17299377

Title:

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.

Species studied:

Human

Abstract:

The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.
Variant 4:

ARG2:c.*1096G>T

Gene:

ARG2

Genomic location:

chr14:68117006

dbSNP ID:

rs10483801

Target disease:

Sickle Cell Anemia(DOID_10923)

Effect type:

Expressivity

Modifier effect:

Altered response to hydroxyurea

Evidence:

Recessive model: P=0.0037

Effect:

Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU

Reference:

PMID17299377

Title:

Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea.

Species studied:

Human

Abstract:

The increase in fetal hemoglobin (HbF) in response to hydroxyurea (HU) varies among patients with sickle cell anemia. Twenty-nine candidate genes within loci previously reported to be linked to HbF level (6q22.3-q23.2, 8q11-q12 and Xp22.2-p22.3), involved in metabolism of HU and related to erythroid progenitor proliferation were studied in 137 sickle cell anemia patients treated with HU. Three-hundred and twenty tagging single nucleotide polymorphisms (SNPs) for genotyping were selected based on HapMap data. Multiple linear regression and the nonlinear regression Random Forest method were used to investigate the association between SNPs and the change in HbF level after 2 years of treatment with HU. Both methods revealed that SNPs in genes within the 6q22.3-23.2 and 8q11-q12 linkage peaks, and also the ARG2, FLT1, HAO2 and NOS1 genes were associated with the HbF response to HU. Polymorphisms in genes regulating HbF expression, HU metabolism and erythroid progenitor proliferation might modulate the patient response to HU.