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Gene

CREBBP

CREB binding lysine acetyltransferase

Summary

Cytogenetic location
16p13.3
Coordinates
Chromosome 16: 3,725,054–3,880,713 (GRCh38)
Exons
31 exons across 155.7 kb
Protein
2,442 amino acids
Also known as
RTS, CBP, KAT3A
Previous symbols
RSTS
MANE Select transcript
ENST00000262367.10NM_004380.3
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

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How CREBBP is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 16, with a bracket where CREBBP sits. CREBBP and 17 genes near it on chromosome 16, from 3,302,884 to 4,302,883.Chromosome 1616p13.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.33.4 Mb3.6 Mb3.8 Mb4 Mb4.2 MbTIGD7: 3,298,390–3,305,729, reverse strandTIGD7ZNF75A: 3,305,385–3,320,003, forward strandZNF75AOR2C1: 3,355,889–3,357,306, forward strandOR2C1: 3,365,099–3,479,550, forward strandZSCAN32: 3,382,081–3,401,483, reverse strandZSCAN32ZNF174: 3,401,194–3,409,478, forward strandZNF174ZNF597: 3,432,414–3,443,539, reverse strandZNF597NAA60: 3,443,623–3,486,961, forward strandNAA60C16orf90: 3,493,484–3,495,489, reverse strandC16orf90IFT38: 3,500,976–3,540,653, forward strandIFT38NLRC3: 3,538,090–3,577,403, reverse strandNLRC3SLX4: 3,579,654–3,611,617, reverse strandSLX4DNASE1: 3,611,678–3,680,143, forward strandDNASE1TRAP1: 3,651,639–3,717,595, reverse strandTRAP1CREBBP: 3,725,054–3,880,713, reverse strandCREBBPADCY9: 3,953,387–4,116,493, reverse strandADCY9SRL: 4,189,369–4,242,283, reverse strandSRLTFAP4: 4,257,186–4,273,075, reverse strandTFAP4Diagram of CREBBP: 31 exons on the reverse strand of chromosome 16Exon 31: 64 known disease-causing sitesExon 30: 14 known disease-causing sitesExon 29: 4 known disease-causing sitesExon 28: 10 known disease-causing sitesExon 27: 16 known disease-causing sitesExon 26: 9 known disease-causing sitesExon 25: 11 known disease-causing sitesExon 24: 6 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 19: 6 known disease-causing sitesExon 18: 18 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 13 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 5 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 19 known disease-causing sitesExon 1: 5 known disease-causing sitesExon 31: 3,725,054–3,729,874, 4,821 basesExon 30: 3,731,192–3,731,473, 282 basesExon 29: 3,731,776–3,731,937, 162 basesExon 28: 3,736,036–3,736,203, 168 basesExon 27: 3,736,650–3,736,815, 166 basesExon 26: 3,738,559–3,738,672, 114 basesExon 25: 3,739,578–3,739,724, 147 basesExon 24: 3,740,399–3,740,549, 151 basesExon 23: 3,744,894–3,744,961, 68 basesExon 22: 3,745,277–3,745,354, 78 basesExon 21: 3,749,627–3,749,683, 57 basesExon 20: 3,751,726–3,751,806, 81 basesExon 19: 3,757,288–3,757,376, 89 basesExon 18: 3,757,809–3,758,048, 240 basesExon 17: 3,758,854–3,758,972, 119 basesExon 16: 3,767,720–3,767,909, 190 basesExon 15: 3,769,174–3,769,353, 180 basesExon 14: 3,770,570–3,770,986, 417 basesExon 13: 3,773,751–3,773,930, 180 basesExon 12: 3,774,569–3,774,693, 125 basesExon 11: 3,777,613–3,777,657, 45 basesExon 10: 3,778,011–3,778,182, 172 basesExon 9: 3,778,700–3,778,817, 118 basesExon 8: 3,780,732–3,780,878, 147 basesExon 7: 3,781,204–3,781,306, 103 basesExon 6: 3,782,684–3,782,926, 243 basesExon 5: 3,791,981–3,792,094, 114 basesExon 4: 3,793,386–3,793,626, 241 basesExon 3: 3,810,603–3,810,779, 177 basesExon 2: 3,850,297–3,851,009, 713 basesExon 1: 3,879,832–3,880,713, 882 bases313025201510515′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 10.8 kb of the gene's 155.7 kb; 7,329 of those bases code for the protein.

    How a genome test reads CREBBP

    314

    positions in CREBBP 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 155.7 kb of CREBBP, introns included, not only the 10.8 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.). CREBBP gene: CREB binding lysine acetyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/crebbp

    Vancouver

    Dante Labs. CREBBP gene: CREB binding lysine acetyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/crebbp

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