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Gene

CREB3L1

cAMP responsive element binding protein 3 like 1

Summary

Cytogenetic location
11p11.2
Coordinates
Chromosome 11: 46,277,662–46,321,409 (GRCh38)
Exons
12 exons across 43.7 kb
Protein
519 amino acids
Also known as
OASIS
MANE Select transcript
ENST00000621158.5NM_052854.4
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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

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

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How CREB3L1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where CREB3L1 sits. CREB3L1 and 17 genes near it on chromosome 11, from 45,799,536 to 46,799,535.Chromosome 1111p11.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2545.8 Mb46 Mb46.2 Mb46.4 Mb46.6 MbSLC35C1: 45,804,071–45,813,016, forward strandSLC35C1CRY2: 45,847,118–45,883,248, forward strandCRY2MAPK8IP1: 45,885,593–45,906,470, forward strandFREY1: 45,906,513–45,907,272, reverse strandFREY1PEX16: 45,909,663–45,918,854, reverse strandPEX16LARGE2: 45,918,146–45,929,376, forward strandLARGE2PHF21A: 45,929,319–46,121,473, reverse strandPHF21ACREB3L1: 46,277,662–46,321,409, forward strandCREB3L1DGKZ: 46,332,665–46,380,555, forward strandDGKZMDK: 46,380,748–46,383,837, forward strandMDKCHRM4: 46,383,589–46,391,990, reverse strandCHRM4AMBRA1: 46,396,414–46,594,242, reverse strandAMBRA1HARBI1: 46,601,280–46,617,909, reverse strandHARBI1ATG13: 46,617,251–46,674,818, forward strandATG13ARHGAP1: 46,677,075–46,700,977, reverse strandARHGAP1ZNF408: 46,701,011–46,705,913, forward strandZNF408F2: 46,719,079–46,768,566, forward strandF2CKAP5: 46,742,768–46,846,308, reverse strandCKAP5Diagram of CREB3L1: 12 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 1: 46,277,662–46,278,213, 552 basesExon 2: 46,299,935–46,300,163, 229 basesExon 3: 46,307,816–46,308,000, 185 basesExon 4: 46,309,989–46,310,067, 79 basesExon 5: 46,311,032–46,311,189, 158 basesExon 6: 46,312,325–46,312,474, 150 basesExon 7: 46,312,612–46,312,670, 59 basesExon 8: 46,312,851–46,312,919, 69 basesExon 9: 46,316,286–46,316,385, 100 basesExon 10: 46,317,361–46,317,487, 127 basesExon 11: 46,320,264–46,320,528, 265 basesExon 12: 46,320,710–46,321,409, 700 bases1510125′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 2.7 kb of the gene's 43.7 kb; 1,560 of those bases code for the protein.

How a genome test reads CREB3L1

8

positions in CREB3L1 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 43.7 kb of CREB3L1, introns included, not only the 2.7 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.). CREB3L1 gene: cAMP responsive element binding protein 3 like 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/creb3l1

Vancouver

Dante Labs. CREB3L1 gene: cAMP responsive element binding protein 3 like 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/creb3l1

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