PhenoModifier-Gene Detail

Gene "ABCC6"

Found 7 records

Gene information

Gene symbol:

ABCC6

See related:

Ensembl: ENSG00000091262, Gene ID: 368

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	SIN3A RPS27 SLC25A26 DLAT GALT RPS11 RPS4X RPS16 XPC IDH3B BUD31 PDXK IMMP2L PCSK9 SUCO ACAA1 ASF1A PPIL6 LEO1 PEX10 IDH3A INPP5E KATNA1 VPS35 WDR48 PPP2R5C GPD1L SCAP POMT2 MIOS DMXL1 DDI2 VPS26B KIFC2 OSGEPL1 PEX1 EEF1G STRIP2 EGR3 TBK1 SLC47A2 RPS28 RPS6 D2HGDH ASZ1 EEF1G RAB5B RPSA FAU OGFOD1 EMC3 CSNK2A2 CRLS1 CERK AP1G1 HAAO PRDX1 CCNA2 ALPL ARHGAP11A ATP1A1 APRT PCSK9 ABHD5 FAF1 OTUD6A AP3S2 NIT1 show allhide
Negative interactions	ATAD2 SAC3D1 SMARCB1 DBT MLH1 ADA KMO ATP23 USP17L30 TREH NF1 DPH5 RANGRF USP41 DDX31 PPAT DOHH MOK HGH1 TBL1XR1 MAST2 ACSF2 RAD52 WIPI2 DYNC2H1 GOLPH3L SDHAF2 ASNA1 ABCC5 PYGM PPTC7 DRG1 CTSA MSH3 LSM1 LIPT1 UBL5 CHCHD2 TESC PRKG2 AGL AIRE REXO1 ADI1 ALG8 AMD1 ELOVL1 OGG1 SIRT2 UBE4B GGPS1 ASH1L TMED9 PPP6R3 SLC30A6 PGGHG PPEF2 MAD2L1 SLC25A4 IPO8 NRDC ALDH1L2 SMS TSSK3 SLC25A44 RPL14 ALG12 ITPA NIF3L1 SLC35B1 BECN2 FBP1 RPS9 ISY1-RAB43 XPOT WDR17 MUS81 RPS23 MDH2 PAN3 TREH EDF1 GDA show allhide

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(7)

Modifier effect:

Risk factor(7)

Details：

Variant 1:

ABCC6:rs32756904

Gene:

ABCC6

Genomic location:

dbSNP ID:

rs32756904

Alias:

ABCC6:p.R621C

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 2:

ABCC6:rs32756904

Gene:

ABCC6

Genomic location:

dbSNP ID:

rs32756904

Alias:

ABCC6:p.R621C

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 3:

ABCC6:c.3803G>A(p.Arg1268Gln)

Gene:

ABCC6

Genomic location:

chr16:16251599

dbSNP ID:

rs2238472

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 4:

ABCC6:c.3736-334A>C

Gene:

ABCC6

Genomic location:

dbSNP ID:

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 5:

ABCC6:c.3421C>T(p.Arg1141*)

Gene:

ABCC6

Genomic location:

chr16:16256935

dbSNP ID:

rs72653706

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 6:

ABCC6:c.2996_4208del

Gene:

ABCC6

Genomic location:

dbSNP ID:

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Variant 7:

ABCC6:c.1866G>A

Gene:

ABCC6

Genomic location:

dbSNP ID:

Target disease:

Pseudoxanthoma Elasticum(DOID_2738)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

ABCC6 mutations on a single allele might determine a mild PXE phenotype

Reference:

PMID23802012

Title:

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Species studied:

Human

Abstract:

Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.