EPB42 Chromosome 15

Erythrocyte membrane protein band 4.2
46 variants 46 Health Risk

Upload your DNA to see your personal genotypes for variants in EPB42.

What This Gene Does
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transglutaminases
Locus Type
gene with protein product
Location
15q15.2
Ensembl
ENSG00000166947
Associated Conditions (3)
Hereditary spherocytosis type 5
EPB42-related disorder
Inborn genetic diseases
Key Variants
RS104894487
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, EPB42-related disorder, Hereditary spherocytosis type 5
Health Risk
RS113768282
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
RS114136713
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
RS114354377
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
RS115972761
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
Health Risk
RS116484797
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
RS1329445100
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141596199
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
Health Risk
RS144428415
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
RS146348439
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
RS148871144
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, EPB42-related disorder, Inborn genetic diseases
Health Risk
RS149249456
Conflicting classifications of pathogenicity
Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
Health Risk
All Variants (46)
RSID Category Clinical Significance Conditions
RS104894487 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder, Hereditary spherocytosis type 5
RS113768282 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS114136713 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS114354377 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS115972761 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
RS116484797 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS1329445100 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141596199 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
RS144428415 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS146348439 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS148871144 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder, Inborn genetic diseases
RS149249456 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS149419129 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder, Hereditary spherocytosis type 5
RS149742998 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder, Hereditary spherocytosis type 5
RS150037117 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
RS150481419 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder, Hereditary spherocytosis type 5
RS150530456 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS185794093 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS199505318 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS199787216 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS201674874 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, EPB42-related disorder
RS2142290623 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS35719500 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS369068948 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
RS372291145 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS377673168 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
RS45495503 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS45594632 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS515726212 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS574359460 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS75424023 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS758323919 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases, Hereditary spherocytosis type 5
RS768899304 Health Risk Conflicting classifications of pathogenicity —
RS1215949434 Health Risk Likely pathogenic —
RS121917734 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2142263398 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2142297728 Health Risk Likely pathogenic —
RS2142314789 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS772330879 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS777764528 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS115998465 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS143682977 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS2542476473 Health Risk Pathogenic —
RS266257354 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS266257355 Health Risk Pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS765829996 Health Risk Pathogenic —
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