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Gene

ACVR2B

activin A receptor type 2B

Summary

Cytogenetic location
3p22.2
Coordinates
Chromosome 3: 38,453,890–38,493,142 (GRCh38)
Exons
11 exons across 39.3 kb
Protein
512 amino acids
Also known as
ActR-IIB
MANE Select transcript
ENST00000352511.5NM_001106.4
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

  • Heterotaxy & Laterality Defects

    • Visceral Heterotaxy

      Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.

How ACVR2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where ACVR2B sits. ACVR2B and 14 genes near it on chromosome 3, from 37,973,516 to 38,973,515.Chromosome 33p22.2p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2938 Mb38.2 Mb38.4 Mb38.6 Mb38.8 MbCTDSPL: 37,861,832–37,984,469, forward strandCTDSPLVILL: 37,987,960–38,007,535, forward strandVILLPLCD1: 38,007,496–38,029,680, reverse strandPLCD1DLEC1: 38,039,190–38,124,025, forward strandDLEC1ACAA1: 38,103,129–38,137,647, reverse strandACAA1MYD88: 38,138,552–38,143,024, forward strandMYD88OXSR1: 38,165,089–38,255,487, forward strandOXSR1SLC22A13: 38,265,812–38,278,757, forward strandSLC22A13SLC22A14: 38,282,294–38,318,575, forward strandSLC22A14XYLB: 38,346,743–38,428,434, forward strandXYLBACVR2B: 38,453,890–38,493,142, forward strandACVR2BEXOG: 38,496,127–38,542,242, forward strandEXOGSCN5A: 38,548,057–38,649,743, reverse strandSCN5ASCN10A: 38,696,802–38,816,286, reverse strandSCN10ASCN11A: 38,845,758–39,052,157, reverse strandSCN11ADiagram of ACVR2B: 11 exons on the forward strand of chromosome 3Exon 9: 1 known disease-causing siteExon 1: 38,453,890–38,454,374, 485 basesExon 2: 38,477,287–38,477,494, 208 basesExon 3: 38,477,861–38,477,970, 110 basesExon 4: 38,478,141–38,478,292, 152 basesExon 5: 38,478,375–38,478,518, 144 basesExon 6: 38,479,128–38,479,271, 144 basesExon 7: 38,479,678–38,479,826, 149 basesExon 8: 38,481,351–38,481,465, 115 basesExon 9: 38,482,198–38,482,336, 139 basesExon 10: 38,482,430–38,482,560, 131 basesExon 11: 38,483,138–38,493,142, 10,005 bases1246810115′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 11.8 kb of the gene's 39.3 kb; 1,539 of those bases code for the protein.

How a genome test reads ACVR2B

1

position in ACVR2B 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 39.3 kb of ACVR2B, introns included, not only the 11.8 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.). ACVR2B gene: activin A receptor type 2B. Retrieved 16 October 2026, from https://dantelabs.com/genes/acvr2b

Vancouver

Dante Labs. ACVR2B gene: activin A receptor type 2B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acvr2b

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