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Gene

LTBP2

latent transforming growth factor beta binding protein 2

Summary

Cytogenetic location
14q24.3
Coordinates
Chromosome 14: 74,498,183–74,612,237 (GRCh38)
Exons
36 exons across 114.1 kb
Protein
1,821 amino acids
Previous symbols
LTBP3, C14orf141
MANE Select transcript
ENST00000261978.9NM_000428.3
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

  • Glaucoma

    • Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      IOP-lowering drops (prostaglandin analogs, beta-blockers); selective laser trabeculoplasty; MIGS surgery; trabeculotomy/goniotomy for congenital glaucoma; cascade family genetic testing; annual IOP monitoring for carriers

How LTBP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where LTBP2 sits. LTBP2 and 19 genes near it on chromosome 14, from 74,055,210 to 75,055,209.Chromosome 1414q24.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3374.2 Mb74.4 Mb74.6 Mb74.8 Mb75 MbBBOF1: 74,019,341–74,082,863, forward strandBBOF1ALDH6A1: 74,055,997–74,084,492, reverse strandALDH6A1LIN52: 74,084,943–74,201,493, forward strandLIN52VSX2: 74,239,449–74,262,738, forward strandVSX2ABCD4: 74,285,269–74,303,068, reverse strandABCD4VRTN: 74,303,069–74,360,011, forward strandVRTNSYNDIG1L: 74,405,894–74,426,325, reverse strandSYNDIG1LNPC2: 74,427,119–74,494,177, reverse strandNPC2ISCA2: 74,493,721–74,499,758, forward strandISCA2LTBP2: 74,498,183–74,612,237, reverse strandLTBP2AREL1: 74,653,437–74,713,117, reverse strandAREL1FCF1: 74,713,144–74,750,706, forward strandFCF1YLPM1: 74,763,289–74,859,435, forward strandYLPM1PROX2: 74,852,871–74,876,154, reverse strandPROX2DLST: 74,881,891–74,903,966, forward strandDLSTRPS6KL1: 74,903,951–74,923,308, reverse strandRPS6KL1PGF: 74,940,965–74,955,626, reverse strandPGFEIF2B2: 75,002,889–75,013,117, forward strandEIF2B2MLH3: 75,013,224–75,051,532, reverse strandMLH3ACYP1: 75,052,937–75,069,486, reverse strandACYP1Diagram of LTBP2: 36 exons on the reverse strand of chromosome 14Exon 29: 1 known disease-causing siteExon 24: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 36: 74,498,183–74,501,029, 2,847 basesExon 35: 74,501,441–74,501,590, 150 basesExon 34: 74,502,653–74,502,934, 282 basesExon 33: 74,503,219–74,503,386, 168 basesExon 32: 74,503,469–74,503,606, 138 basesExon 31: 74,503,926–74,504,054, 129 basesExon 30: 74,504,778–74,504,861, 84 basesExon 29: 74,504,983–74,505,174, 192 basesExon 28: 74,506,048–74,506,191, 144 basesExon 27: 74,506,698–74,506,823, 126 basesExon 26: 74,507,179–74,507,310, 132 basesExon 25: 74,507,973–74,508,095, 123 basesExon 24: 74,508,604–74,508,729, 126 basesExon 23: 74,508,830–74,508,952, 123 basesExon 22: 74,509,238–74,509,363, 126 basesExon 21: 74,509,734–74,509,859, 126 basesExon 20: 74,510,091–74,510,213, 123 basesExon 19: 74,511,245–74,511,364, 120 basesExon 18: 74,516,822–74,516,941, 120 basesExon 17: 74,521,911–74,522,039, 129 basesExon 16: 74,522,790–74,522,918, 129 basesExon 15: 74,525,124–74,525,225, 102 basesExon 14: 74,526,075–74,526,114, 40 basesExon 13: 74,527,347–74,527,366, 20 basesExon 12: 74,528,483–74,528,698, 216 basesExon 11: 74,528,958–74,529,122, 165 basesExon 10: 74,532,426–74,532,548, 123 basesExon 9: 74,535,926–74,536,000, 75 basesExon 8: 74,549,863–74,549,965, 103 basesExon 7: 74,551,064–74,551,350, 287 basesExon 6: 74,552,187–74,552,393, 207 basesExon 5: 74,552,892–74,553,062, 171 basesExon 4: 74,555,503–74,555,693, 191 basesExon 3: 74,585,854–74,586,118, 265 basesExon 2: 74,603,635–74,603,705, 71 basesExon 1: 74,611,451–74,612,237, 787 bases3630201015′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 8.5 kb of the gene's 114.1 kb; 5,466 of those bases code for the protein.

How a genome test reads LTBP2

11

positions in LTBP2 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 114.1 kb of LTBP2, introns included, not only the 8.5 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.). LTBP2 gene: latent transforming growth factor beta binding protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/ltbp2

Vancouver

Dante Labs. LTBP2 gene: latent transforming growth factor beta binding protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ltbp2

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