Skip to content
Use your HSA or FSA funds

Gene

EPB42

erythrocyte membrane protein band 4.2

Summary

Cytogenetic location
15q15.2
Coordinates
Chromosome 15: 43,197,227–43,221,018 (GRCh38)
Exons
13 exons across 23.8 kb
Protein
691 amino acids
Also known as
PA, MGC116735, MGC116737
MANE Select transcript
ENST00000441366.7NM_001114134.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Hereditary Spherocytosis

    • Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Folic acid supplementation; splenectomy for moderate-severe disease (partial or total); pre-splenectomy vaccination; cholecystectomy for gallstones; transfusion support during aplastic crises; monitoring for parvovirus B19

How EPB42 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where EPB42 sits. EPB42 and 21 genes near it on chromosome 15, from 42,709,123 to 43,709,122.Chromosome 1515q15.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.342.8 Mb43 Mb43.2 Mb43.4 Mb43.6 MbSTARD9: 42,575,574–42,720,998, forward strandSTARD9CDAN1: 42,723,544–42,737,156, reverse strandCDAN1TTBK2: 42,738,730–42,920,850, reverse strandTTBK2UBR1: 42,942,897–43,106,141, reverse strandUBR1TMEM62: 43,123,279–43,185,144, forward strandTMEM62: 43,179,715–43,206,481, reverse strandCCNDBP1: 43,185,118–43,197,177, forward strandCCNDBP1EPB42: 43,197,227–43,221,018, reverse strandEPB42TGM5: 43,232,590–43,266,933, reverse strandTGM5TGM7: 43,276,271–43,302,255, reverse strandTGM7LCMT2: 43,323,649–43,330,582, reverse strandLCMT2MAPDA: 43,329,654–43,355,418, forward strandMAPDAZSCAN29: 43,357,920–43,371,058, reverse strandZSCAN29TUBGCP4: 43,369,221–43,409,771, forward strandTUBGCP4TP53BP1: 43,403,061–43,510,728, reverse strandTP53BP1MAP1A: 43,510,946–43,531,620, forward strandMAP1APPIP5K1: 43,533,462–43,590,228, reverse strandPPIP5K1CKMT1B: 43,593,054–43,604,901, forward strandCKMT1BSTRC: 43,597,892–43,618,800, reverse strandSTRC: 43,614,208–43,632,283, reverse strandCATSPER2: 43,628,503–43,668,118, reverse strandCATSPER2CKMT1A: 43,692,886–43,702,501, forward strandCKMT1ADiagram of EPB42: 13 exons on the reverse strand of chromosome 15Exon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 13: 43,197,227–43,197,464, 238 basesExon 12: 43,201,844–43,201,977, 134 basesExon 11: 43,203,115–43,203,275, 161 basesExon 10: 43,206,330–43,206,629, 300 basesExon 9: 43,207,199–43,207,441, 243 basesExon 8: 43,208,230–43,208,333, 104 basesExon 7: 43,208,637–43,208,775, 139 basesExon 6: 43,209,274–43,209,451, 178 basesExon 5: 43,210,335–43,210,439, 105 basesExon 4: 43,211,416–43,211,534, 119 basesExon 3: 43,215,095–43,215,328, 234 basesExon 2: 43,216,268–43,216,453, 186 basesExon 1: 43,220,816–43,221,018, 203 bases131211109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.3 kb of the gene's 23.8 kb; 2,076 of those bases code for the protein.

How a genome test reads EPB42

14

positions in EPB42 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 23.8 kb of EPB42, introns included, not only the 2.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EPB42 gene: erythrocyte membrane protein band 4.2. Retrieved 17 October 2026, from https://dantelabs.com/genes/epb42

Vancouver

Dante Labs. EPB42 gene: erythrocyte membrane protein band 4.2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/epb42

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test