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Gene

ACD

ACD shelterin complex subunit and telomerase recruitment factor

Summary

Cytogenetic location
16q22.1
Coordinates
Chromosome 16: 67,657,512–67,660,260 (GRCh38)
Exons
12 exons across 2.7 kb
Protein
458 amino acids
Also known as
Ptop, Pip1, Tpp1, Tint1
MANE Select transcript
ENST00000620761.6NM_001082486.2
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

  • Dyskeratosis Congenita

    • Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

      • 1 GenCC submitter rates it definitive or strong
    • Telomere syndromes

      Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.

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

      Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.

How ACD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where ACD sits. ACD and 46 genes near it on chromosome 16, from 67,158,886 to 68,158,885.Chromosome 1616q22.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.367.2 Mb67.4 Mb67.6 Mb67.8 Mb68 MbTRADD: 67,153,969–67,163,760, reverse strandFBXL8: 67,159,932–67,164,570, forward strand: 67,163,385–67,165,815, forward strandHSF4: 67,164,681–67,169,945, forward strandHSF4NOL3: 67,170,154–67,176,189, forward strandMATCAP1: 67,175,599–67,184,228, reverse strandEXOC3L1: 67,184,313–67,190,242, reverse strandE2F4: 67,192,117–67,198,919, forward strandE2F4ELMO3: 67,199,105–67,204,029, forward strandELMO3TMEM208: 67,227,103–67,229,281, forward strandTMEM208FHOD1: 67,229,387–67,247,539, reverse strandFHOD1SLC9A5: 67,237,683–67,272,191, forward strandSLC9A5PLEKHG4: 67,277,510–67,289,499, forward strandPLEKHG4KCTD19: 67,289,428–67,326,766, reverse strandKCTD19LRRC36: 67,326,798–67,385,221, forward strandLRRC36TPPP3: 67,389,027–67,393,518, reverse strandTPPP3ZDHHC1: 67,394,152–67,416,833, reverse strandZDHHC1HSD11B2: 67,430,652–67,437,553, forward strandHSD11B2ATP6V0D1: 67,437,523–67,481,227, reverse strandATP6V0D1AGRP: 67,482,571–67,483,552, reverse strandAGRPRIPOR1: 67,518,418–67,546,788, forward strandRIPOR1CTCF: 67,561,831–67,639,189, forward strandCARMIL2: 67,644,988–67,657,569, forward strandCARMIL2ACD: 67,657,512–67,660,260, reverse strandACDPARD6A: 67,660,350–67,664,266, forward strandPARD6AENKD1: 67,662,945–67,667,954, reverse strandENKD1C16orf86: 67,666,802–67,668,757, forward strandGFOD2: 67,674,527–67,719,352, reverse strandRANBP10: 67,723,070–67,806,563, reverse strandRANBP10TSNAXIP1: 67,806,765–67,832,148, forward strandTSNAXIP1CENPT: 67,828,157–67,847,811, reverse strandCENPTTHAP11: 67,842,320–67,844,195, forward strandTHAP11NUTF2: 67,844,369–67,872,569, forward strandNUTF2EDC4: 67,873,049–67,884,520, forward strandNRN1L: 67,884,868–67,888,855, forward strandPSKH1: 67,893,244–67,929,676, forward strandPSKH1CTRL: 67,927,640–67,932,365, reverse strandCTRL: 67,929,614–67,936,017, reverse strandPSMB10: 67,934,504–67,936,865, reverse strandPSMB10LCAT: 67,939,150–67,944,681, reverse strandSLC12A4: 67,943,474–67,969,601, reverse strandDPEP3: 67,975,661–67,980,554, reverse strandDPEP3DPEP2: 67,987,392–68,000,624, reverse strandDPEP2DUS2: 67,987,746–68,079,344, forward strandDPEP2NB: 68,013,436–68,015,911, reverse strandDPEP2NBDDX28: 68,020,916–68,023,232, reverse strandDDX28NFATC3: 68,084,751–68,229,259, forward strandNFATC3Diagram of ACD: 12 exons on the reverse strand of chromosome 16Exon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 12: 67,657,512–67,657,684, 173 basesExon 11: 67,657,762–67,657,853, 92 basesExon 10: 67,657,986–67,658,362, 377 basesExon 9: 67,658,555–67,658,641, 87 basesExon 8: 67,658,720–67,658,816, 97 basesExon 7: 67,658,928–67,659,079, 152 basesExon 6: 67,659,229–67,659,263, 35 basesExon 5: 67,659,375–67,659,419, 45 basesExon 4: 67,659,537–67,659,613, 77 basesExon 3: 67,659,702–67,659,795, 94 basesExon 2: 67,659,903–67,660,045, 143 basesExon 1: 67,660,122–67,660,260, 139 bases1211109876543215′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 1.5 kb of the gene's 2.7 kb; 1,377 of those bases code for the protein.

How a genome test reads ACD

5

positions in ACD 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 2.7 kb of ACD, introns included, not only the 1.5 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.). ACD gene: ACD shelterin complex subunit and telomerase recruitment factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/acd

Vancouver

Dante Labs. ACD gene: ACD shelterin complex subunit and telomerase recruitment factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/acd

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