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Gene

ERBB3

erb-b2 receptor tyrosine kinase 3

Summary

Cytogenetic location
12q13.2
Coordinates
Chromosome 12: 56,080,165–56,103,505 (GRCh38)
Exons
28 exons across 23.3 kb
Protein
1,342 amino acids
Inheritance
Autosomal recessive
Also known as
HER3
Previous symbols
LCCS2
MANE Select transcript
ENST00000267101.8NM_001982.4
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 Visceral Myopathy, CIPO & MMIHS

    • Familial visceral neuropathyAutosomal recessive

      Inherited forms of intestinal pseudo-obstruction caused by abnormal development or function of the gut's nerve supply.

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

      A diagnosis helps explain dysmotility and guides nutritional management.

    • Chronic intestinal pseudo-obstruction (CIPO)

      Recurrent episodes of bowel obstruction without a physical blockage, including X-linked forms caused by FLNA and recessive forms caused by ERBB3.

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

      Recognising the condition avoids repeated surgery for suspected blockage and focuses care on nutrition and symptom control.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ERBB3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where ERBB3 sits. ERBB3 and 47 genes near it on chromosome 12, from 55,591,835 to 56,591,834.Chromosome 1212q13.2p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3355.6 Mb55.8 Mb56 Mb56.2 Mb56.4 MbOR10P1: 55,636,892–55,637,833, forward strandOR10P1ITGA7: 55,679,139–55,716,404, reverse strandTMT1B: 55,681,445–55,695,748, forward strandBLOC1S1: 55,715,911–55,720,087, forward strand: 55,716,036–55,724,703, forward strandRDH5: 55,720,367–55,724,714, forward strandRDH5CD63: 55,723,511–55,737,367, reverse strandCD63GDF11: 55,743,122–55,757,264, forward strandGDF11SARNP: 55,751,195–55,817,912, reverse strand: 55,757,275–55,827,546, reverse strandORMDL2: 55,818,034–55,824,097, forward strandORMDL2DNAJC14: 55,818,839–55,830,824, reverse strandDNAJC14MMP19: 55,835,433–55,843,005, reverse strandMMP19PYM1: 55,901,413–55,932,618, reverse strandPYM1DGKA: 55,927,319–55,954,027, forward strandDGKAPMEL: 55,954,104–55,973,317, reverse strandPMELCDK2: 55,966,781–55,972,789, forward strandCDK2RAB5B: 55,973,859–55,996,683, forward strandRAB5BSUOX: 55,996,855–56,006,641, forward strandSUOXIKZF4: 56,007,392–56,038,435, forward strandIKZF4RPS26: 56,041,351–56,044,697, forward strandRPS26ERBB3: 56,080,165–56,103,505, forward strandERBB3: 56,101,331–56,109,289, forward strandPA2G4: 56,104,349–56,116,329, forward strandPA2G4RPL41: 56,116,585–56,117,967, forward strandRPL41ZC3H10: 56,118,243–56,127,514, forward strandESYT1: 56,118,250–56,150,107, forward strandMYL6B: 56,151,966–56,159,647, forward strandMYL6: 56,158,322–56,166,572, forward strandMYL6SMARCC2: 56,162,359–56,189,587, reverse strandRNF41: 56,202,179–56,224,275, reverse strandRNF41NABP2: 56,221,978–56,229,860, forward strandNABP2SLC39A5: 56,230,039–56,238,214, forward strandSLC39A5ANKRD52: 56,237,807–56,258,665, reverse strandANKRD52COQ10A: 56,266,846–56,271,736, forward strandCS: 56,271,699–56,300,395, reverse strandCS: 56,285,916–56,316,059, reverse strandCNPY2: 56,308,024–56,316,363, reverse strandCNPY2PAN2: 56,316,223–56,334,053, reverse strandPAN2IL23A: 56,334,174–56,340,410, forward strandIL23ASTAT2: 56,338,356–56,360,283, reverse strandSTAT2APOF: 56,360,565–56,362,862, reverse strandAPOFTIMELESS: 56,416,363–56,449,457, reverse strandTIMELESSMIP: 56,449,502–56,469,166, reverse strandMIP: 56,449,700–56,488,170, reverse strandSPRYD4: 56,468,537–56,479,708, forward strandSPRYD4GLS2: 56,470,945–56,488,414, reverse strandRBMS2: 56,521,807–56,617,037, forward strandRBMS2Diagram of ERBB3: 28 exons on the forward strand of chromosome 12Exon 3: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 27: 1 known disease-causing siteExon 28: 1 known disease-causing siteExon 1: 56,080,165–56,080,382, 218 basesExon 2: 56,083,751–56,083,902, 152 basesExon 3: 56,084,995–56,085,181, 187 basesExon 4: 56,086,531–56,086,656, 126 basesExon 5: 56,087,577–56,087,642, 66 basesExon 6: 56,087,795–56,087,913, 119 basesExon 7: 56,088,021–56,088,162, 142 basesExon 8: 56,088,543–56,088,656, 114 basesExon 9: 56,088,748–56,088,868, 121 basesExon 10: 56,092,747–56,092,820, 74 basesExon 11: 56,092,986–56,093,076, 91 basesExon 12: 56,093,345–56,093,550, 206 basesExon 13: 56,093,764–56,093,896, 133 basesExon 14: 56,094,099–56,094,189, 91 basesExon 15: 56,094,402–56,094,556, 155 basesExon 16: 56,095,257–56,095,310, 54 basesExon 17: 56,095,665–56,095,806, 142 basesExon 18: 56,096,503–56,096,622, 120 basesExon 19: 56,096,748–56,096,846, 99 basesExon 20: 56,097,045–56,097,230, 186 basesExon 21: 56,097,785–56,097,940, 156 basesExon 22: 56,098,500–56,098,575, 76 basesExon 23: 56,098,759–56,098,905, 147 basesExon 24: 56,099,648–56,099,745, 98 basesExon 25: 56,099,838–56,100,029, 192 basesExon 26: 56,100,174–56,100,245, 72 basesExon 27: 56,101,061–56,101,361, 301 basesExon 28: 56,101,529–56,103,505, 1,977 bases1510152025285′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 5.6 kb of the gene's 23.3 kb; 4,029 of those bases code for the protein.

How a genome test reads ERBB3

12

positions in ERBB3 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 23.3 kb of ERBB3, introns included, not only the 5.6 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.). ERBB3 gene: erb-b2 receptor tyrosine kinase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/erbb3

Vancouver

Dante Labs. ERBB3 gene: erb-b2 receptor tyrosine kinase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/erbb3

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