PhenoModifier-Gene Detail

Gene "ATP2B2"

Found 1 record

Gene information

Gene symbol:

ATP2B2

See related:

Ensembl: ENSG00000157087, Gene ID: 491

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	VPS8 LIPT2 TRMU NRAS COPS5 RPL7A SLC25A26 LIPT1 KATNA1 MEF2A USP14 PEX1 SORT1 PEX10 XPNPEP2 FASN LTA4H RNF10 PPIP5K1 GLIPR2 RPS6KA1 GLIPR2 TSR3 MAST2 SLC36A1 AIRE VPS26B CHMP5 PAPSS1 BCAT1 RAB24 EXO1 GCLC CYB5B SAC3D1 ABHD2 SLC20A1 ISCU RPS14 MYO15B PICALM DBR1 SOD2 HHATL NEK1 WDR17 RPL13A PAN3 TAT CPA1 MELK MUS81 DBT SLC35F5 TREH SLC13A4 DPH5 show allhide
Negative interactions	ATP1A1 CHPT1 NCBP2 PGLS STRIP2 RPL19 SIN3A CDC73 NFXL1 CAMKK2 PRMT8 COG6 IPO9 MAN1A2 TSSK3 CS MSRA PEX12 SLC26A11 IMPA2 RANGRF SLC25A44 TOMM70 XYLB ARL1 H2AFX SEC24D RBM34 PPP3CC TEX261 ALG3 RPS4X SBF1 DDX11 ELP1 ALG6 ABCD3 TAZ TBC1D20 FHIT RPS29 KIF2C CCDC25 REV3L ACER3 DPP6 MAPKAPK5 AGXT PNPLA6 PPP2CB CNIH3 ARHGAP29 MLH1 TBK1 ZDHHC17 STX2 MAD2L1 TEAD4 SCPEP1 CYB5R1 TRMT1L TYW1 GYS1 CTDNEP1 VDAC2 BRSK1 show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(1)

Modifier effect:

Altered severity(1)

Detail：

Variant 1:

ATP2B2:rs61736451

Gene:

ATP2B2

Genomic location:

dbSNP ID:

rs61736451

Target disease:

Hearing loss(EFO_0004238)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Pedigree analysis

Effect:

This variant may modify the severity of sensorineural hearing loss caused by a variety of factors

Reference:

PMID15829536

Title:

Modification of human hearing loss by plasma-membrane calcium pump PMCA2

Species studied:

Human

Abstract:

Five adult siblings presented with autosomal recessive sensorineural hearing loss: two had high-frequency loss, whereas the other three had severe-to-profound loss affecting all frequencies. Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings. V586M was detected in two unrelated persons with increased sensorineural hearing loss, in the other caused by a mutation in MYO6 (which encodes myosin VI) in one and by noise exposure, suggesting that this variant may modify the severity of sensorineural hearing loss caused by a variety of factors.