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Gene

LTBP1

latent transforming growth factor beta binding protein 1

Summary

Cytogenetic location
2p22.3
Coordinates
Chromosome 2: 32,946,953–33,399,509 (GRCh38)
Exons
34 exons across 452.6 kb
Protein
1,721 amino acids
MANE Select transcript
ENST00000404816.7NM_206943.4
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

  • Cutis Laxa

    • Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

      • 3 GenCC submitters rate it definitive or strong

How LTBP1 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 LTBP1 sits. LTBP1 and 4 genes near it on chromosome 2, from 32,494,396 to 33,852,066.Chromosome 22p22.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.332.6 Mb32.8 Mb33 Mb33.2 Mb33.4 Mb33.6 Mb33.8 MbBIRC6: 32,357,019–32,619,582, forward strandBIRC6TTC27: 32,628,019–32,821,052, forward strandTTC27LTBP1: 32,946,953–33,399,509, forward strandLTBP1RASGRP3: 33,436,267–33,586,669, forward strandRASGRP3TSLIG3A: 33,532,744–33,599,347, reverse strandTSLIG3ADiagram of LTBP1: 34 exons on the forward strand of chromosome 2Exon 6: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 1: 32,946,953–32,947,818, 866 basesExon 2: 32,948,875–32,948,945, 71 basesExon 3: 33,020,909–33,021,206, 298 basesExon 4: 33,110,582–33,110,751, 170 basesExon 5: 33,134,793–33,134,960, 168 basesExon 6: 33,186,856–33,187,080, 225 basesExon 7: 33,188,577–33,188,851, 275 basesExon 8: 33,217,552–33,217,654, 103 basesExon 9: 33,222,080–33,222,151, 72 basesExon 10: 33,243,662–33,243,784, 123 basesExon 11: 33,252,677–33,252,844, 168 basesExon 12: 33,257,284–33,257,511, 228 basesExon 13: 33,259,588–33,259,610, 23 basesExon 14: 33,262,722–33,262,821, 100 basesExon 15: 33,263,294–33,263,392, 99 basesExon 16: 33,273,656–33,273,781, 126 basesExon 17: 33,274,965–33,275,090, 126 basesExon 18: 33,275,801–33,275,923, 123 basesExon 19: 33,280,039–33,280,158, 120 basesExon 20: 33,293,160–33,293,282, 123 basesExon 21: 33,300,451–33,300,573, 123 basesExon 22: 33,301,522–33,301,644, 123 basesExon 23: 33,309,434–33,309,556, 123 basesExon 24: 33,315,144–33,315,269, 126 basesExon 25: 33,342,838–33,342,963, 126 basesExon 26: 33,347,367–33,347,510, 144 basesExon 27: 33,360,597–33,360,779, 183 basesExon 28: 33,361,429–33,361,515, 87 basesExon 29: 33,363,390–33,363,518, 129 basesExon 30: 33,364,216–33,364,356, 141 basesExon 31: 33,365,333–33,365,503, 171 basesExon 32: 33,389,184–33,389,306, 123 basesExon 33: 33,397,133–33,397,282, 150 basesExon 34: 33,398,364–33,399,509, 1,146 bases151015202530345′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 6.5 kb of the gene's 452.6 kb; 5,166 of those bases code for the protein.

How a genome test reads LTBP1

3

positions in LTBP1 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 452.6 kb of LTBP1, introns included, not only the 6.5 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.). LTBP1 gene: latent transforming growth factor beta binding protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ltbp1

Vancouver

Dante Labs. LTBP1 gene: latent transforming growth factor beta binding protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ltbp1

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