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Gene

BIN1

bridging integrator 1

Summary

Cytogenetic location
2q14.3
Coordinates
Chromosome 2: 127,048,032–127,107,154 (GRCh38)
Exons
19 exons across 59.1 kb
Protein
593 amino acids
Also known as
SH3P9, AMPH2
Previous symbols
AMPHL
MANE Select transcript
ENST00000316724.10NM_139343.3
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

  • Congenital Myopathies

    • TTN-related myopathy

      Skeletal muscle disorders caused by variants in TTN, which encodes the muscle protein titin, with onset from birth to adulthood.

      • 3 GenCC submitters rate it definitive or strong
    • Centronuclear myopathy (including X-linked myotubular myopathy)

      Congenital myopathies with centrally placed nuclei in muscle fibers, caused by MTM1, DNM2, BIN1 and other genes; the X-linked myotubular form (MTM1) is often severe in boys.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

How BIN1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where BIN1 sits. BIN1 and 8 genes near it on chromosome 2, from 126,577,593 to 127,577,592.Chromosome 22q14.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3126.6 Mb126.8 Mb127 Mb127.2 Mb127.4 MbGYPC: 126,655,839–126,696,670, forward strandGYPCTEX51: 126,898,864–126,902,097, forward strandTEX51BIN1: 127,048,032–127,107,154, reverse strandBIN1CYP27C1: 127,183,832–127,220,385, reverse strandCYP27C1ERCC3: 127,257,285–127,294,188, reverse strandERCC3MAP3K2: 127,298,668–127,388,465, reverse strandMAP3K2PROC: 127,415,933–127,429,762, forward strandPROCIWS1: 127,436,207–127,526,886, reverse strandIWS1MYO7B: 127,535,683–127,637,729, forward strandMYO7BDiagram of BIN1: 19 exons on the reverse strand of chromosome 2Exon 19: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 19: 127,048,032–127,048,633, 602 basesExon 18: 127,050,421–127,050,522, 102 basesExon 17: 127,050,802–127,050,912, 111 basesExon 16: 127,051,154–127,051,243, 90 basesExon 15: 127,052,255–127,052,362, 108 basesExon 14: 127,053,422–127,053,445, 24 basesExon 13: 127,053,905–127,054,012, 108 basesExon 12: 127,057,473–127,057,601, 129 basesExon 11: 127,059,011–127,059,155, 145 basesExon 10: 127,062,115–127,062,197, 83 basesExon 9: 127,063,571–127,063,646, 76 basesExon 8: 127,063,933–127,064,018, 86 basesExon 7: 127,068,163–127,068,255, 93 basesExon 6: 127,068,924–127,069,031, 108 basesExon 5: 127,069,995–127,070,090, 96 basesExon 4: 127,070,553–127,070,647, 95 basesExon 3: 127,070,762–127,070,816, 55 basesExon 2: 127,076,626–127,076,706, 81 basesExon 1: 127,106,860–127,107,154, 295 bases191510515′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 2.5 kb of the gene's 59.1 kb; 1,782 of those bases code for the protein.

How a genome test reads BIN1

6

positions in BIN1 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 59.1 kb of BIN1, introns included, not only the 2.5 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.). BIN1 gene: bridging integrator 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/bin1

Vancouver

Dante Labs. BIN1 gene: bridging integrator 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bin1

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