Skip to content
Use your HSA or FSA funds

Gene

LTBP4

latent transforming growth factor beta binding protein 4

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 40,601,369–40,629,818 (GRCh38)
Exons
30 exons across 28.5 kb
Protein
1,557 amino acids
Also known as
LTBP-4, LTBP-4L, FLJ46318, FLJ90018
MANE Select transcript
ENST00000396819.8NM_001042545.2
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.

      • 4 GenCC submitters rate it definitive or strong

How LTBP4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where LTBP4 sits. LTBP4 and 29 genes near it on chromosome 19, from 40,115,594 to 41,115,593.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4340.2 Mb40.4 Mb40.6 Mb40.8 Mb41 MbMAP3K10: 40,191,412–40,215,579, forward strandMAP3K10TTC9B: 40,216,058–40,218,521, reverse strandTTC9BCCNP: 40,222,208–40,226,697, reverse strandCCNPAKT2: 40,230,317–40,285,536, reverse strandAKT2C19orf47: 40,294,427–40,348,547, reverse strandC19orf47PLD3: 40,348,453–40,389,472, forward strandPLD3HIPK4: 40,379,271–40,390,181, reverse strandHIPK4PRX: 40,393,764–40,415,070, reverse strandPRXSERTAD1: 40,421,589–40,426,001, reverse strandSERTAD1SERTAD3: 40,440,642–40,445,114, reverse strandSERTAD3BLVRB: 40,446,758–40,465,826, reverse strandBLVRBSPTBN4: 40,466,241–40,576,464, forward strandSPTBN4SHKBP1: 40,576,844–40,591,399, forward strandSHKBP1LTBP4: 40,601,369–40,629,818, forward strandLTBP4NUMBL: 40,665,905–40,690,972, reverse strandNUMBLCOQ8B: 40,691,514–40,725,784, reverse strandCOQ8BITPKC: 40,716,964–40,740,860, forward strandITPKCACTMAP: 40,740,856–40,751,813, reverse strandACTMAPSNRPA: 40,750,585–40,765,393, forward strandSNRPAMIA: 40,768,997–40,777,490, forward strandMIAMIA-RAB4B: 40,771,648–40,796,943, forward strandRAB4B: 40,778,191–40,798,690, forward strandRAB4BRAB4B-EGLN2: 40,778,242–40,808,418, forward strandEGLN2: 40,798,996–40,857,708, forward strandEGLN2: 40,801,297–40,898,282, forward strandCYP2A6: 40,841,915–40,850,493, reverse strandCYP2A6CYP2A7: 40,873,525–40,882,752, reverse strandCYP2A7CYP2B6: 40,991,131–41,018,413, forward strandCYP2B6CYP2A13: 41,088,451–41,096,195, forward strandCYP2A13CYP2F1: 41,114,432–41,128,381, forward strandCYP2F1Diagram of LTBP4: 30 exons on the forward strand of chromosome 19Exon 1: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 1: 40,601,369–40,601,637, 269 basesExon 2: 40,605,035–40,605,226, 192 basesExon 3: 40,605,405–40,605,652, 248 basesExon 4: 40,605,729–40,605,831, 103 basesExon 5: 40,606,233–40,606,307, 75 basesExon 6: 40,606,404–40,606,526, 123 basesExon 7: 40,607,365–40,607,529, 165 basesExon 8: 40,608,220–40,608,369, 150 basesExon 9: 40,608,484–40,608,603, 120 basesExon 10: 40,609,530–40,609,661, 132 basesExon 11: 40,609,746–40,609,871, 126 basesExon 12: 40,610,532–40,610,657, 126 basesExon 13: 40,611,152–40,611,394, 243 basesExon 14: 40,611,859–40,611,984, 126 basesExon 15: 40,612,073–40,612,192, 120 basesExon 16: 40,613,065–40,613,196, 132 basesExon 17: 40,613,404–40,613,529, 126 basesExon 18: 40,613,916–40,614,038, 123 basesExon 19: 40,614,315–40,614,446, 132 basesExon 20: 40,616,889–40,617,020, 132 basesExon 21: 40,617,100–40,617,225, 126 basesExon 22: 40,619,347–40,619,493, 147 basesExon 23: 40,622,401–40,622,667, 267 basesExon 24: 40,622,950–40,623,021, 72 basesExon 25: 40,623,604–40,623,732, 129 basesExon 26: 40,623,936–40,624,082, 147 basesExon 27: 40,625,857–40,626,009, 153 basesExon 28: 40,626,975–40,627,355, 381 basesExon 29: 40,627,705–40,627,857, 153 basesExon 30: 40,629,396–40,629,818, 423 bases1246810121416182022242628305′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 kb of the gene's 28.5 kb; 4,674 of those bases code for the protein.

How a genome test reads LTBP4

16

positions in LTBP4 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 28.5 kb of LTBP4, introns included, not only the 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.). LTBP4 gene: latent transforming growth factor beta binding protein 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/ltbp4

Vancouver

Dante Labs. LTBP4 gene: latent transforming growth factor beta binding protein 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ltbp4

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test