PhenoModifier-Gene Detail

Gene "ATP7B"

Found 1 record

Gene information

Gene symbol:

ATP7B

See related:

Ensembl: ENSG00000123191, Gene ID: 540

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	BUD31 PHB2 RTF1 LENG8 MPC1 WIPI2 RANGRF PGLS VAMP2 SGTB ZFP36L2 CS CCNA2 ERCC1 ABCF3 NMNAT1 RPS4X UBE2V2 MORF4L1 PQLC2L PUS7L STX2 WDR76 YEATS4 PUM1 LARP7 ROMO1 ERMP1 VRK1 SDHB FAU TOP1 BRDT CCNA2 WDHD1 TBC1D22A CDC25B ATG5 INPP5E TGIF2 EMC3 MAN2C1 RAB24 MIOS TRMT11 HIST2H4B BRD1 SGPP2 CAMKK2 MSH4 show allhide
Negative interactions	ERCC4 XPA PTRH1 PDCD6IP CHKA COQ7 RPL14 XRN1 DPYSL2 SMARCB1 VAC14 DLAT ACAA1 FASN YME1L1 ABCB9 TRMU RACK1 SH3YL1 FIGNL2 DDI2 RPL37A SFN CLUH DNM1L PEX14 SLC2A10 PMS1 DDX11 SRM VPS35 HHATL LEO1 RRAGA CYB5B XPNPEP2 LSM14B CCNA2 ARL9 MAF1 RPL24 ERN1 DNAJC5B ANKZF1 RTN4IP1 ENO1 WRN TKTL2 DBR1 GABARAP NIT2 NAA30 NSUN2 GGT7 MRS2 CAMK2D OSBP ABCG2 ZGRF1 MRI1 PRPSAP2 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered expression of iron overload(1)

Detail：

Variant 1:

ATP7B:c.845G>A(p.Cys282Tyr)

Gene:

ATP7B

Genomic location:

dbSNP ID:

Target disease:

Wilson Disease(DOID_893)

Effect type:

Expressivity

Modifier effect:

Altered expression of iron overload

Evidence:

From review article

Effect:

The A1-ATZ mutation is generally required for the development of liver disease in A1-AT although there is increasing evidence for modifier effects from a heterozygous genotype in other liver diseases.

Reference:

PMID21538285

Title:

Genetic modifiers of liver injury in hereditary liver disease.

Species studied:

Human

Abstract:

The genetic background of patients with liver diseases modulates hepatic injury, with some individuals being predisposed to better defenses and regenerative capacity. In this review, we focus our description of this phenomenon on inherited disorders affecting the liver, with a particular emphasis on Wilson disease (WD), genetic hemochromatosis, and α-1 anti-trypsin disease (A1-AT). Wide variations in the clinical phenotype of WD may in part be related to the mutations of the ATP7B genotype, though modifier genes and environmental factors also likely play an important role. There is also a significant variability in the expression of iron overload in patients with genetic hemochromatosis that are homozygous for the C282Y mutation. Homozygosity for the A1-ATZ mutation is generally required for the development of liver disease in A1-AT although there is increasing evidence for modifier effects from a heterozygous genotype in other liver diseases.