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Gene

RAB27A

RAB27A, member RAS oncogene family

Summary

Cytogenetic location
15q21.3
Coordinates
Chromosome 15: 55,202,966–55,289,813 (GRCh38)
Exons
7 exons across 86.8 kb
Protein
221 amino acids
Inheritance
Autosomal recessive
Also known as
RAB27, RAM, GS2, HsT18676
MANE Select transcript
ENST00000336787.6NM_183235.3
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 reports relevant to this gene

  • Griscelli Syndrome

    • Autosomal recessive

      Partial albinism with silvery hair; type 1 (MYO5A) involves neurological problems, type 2 (RAB27A) causes life-threatening immune overactivation (HLH), and type 3 (MLPH) affects pigmentation only.

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

      Type 2 needs prompt specialist care and usually stem cell transplantation.

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RAB27A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where RAB27A sits. RAB27A and 8 genes near it on chromosome 15, from 54,746,390 to 55,746,389.Chromosome 1515q21.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.354.8 Mb55 Mb55.2 Mb55.4 Mb55.6 MbRSL24D1: 55,180,797–55,197,076, reverse strandRSL24D1RAB27A: 55,202,966–55,289,813, reverse strandRAB27APIGBOS1: 55,317,086–55,319,419, reverse strandPIGBOS1PIGB: 55,318,944–55,355,648, forward strandPIGBCCPG1: 55,319,687–55,408,510, reverse strandCCPG1PIERCE2: 55,408,480–55,418,798, forward strandPIERCE2DNAAF4: 55,410,525–55,508,234, reverse strandDNAAF4PYGO1: 55,538,884–55,588,994, reverse strandPYGO1PRTG: 55,611,544–55,743,203, reverse strandPRTGDiagram of RAB27A: 7 exons on the reverse strand of chromosome 15Exon 7: 7 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 7: 55,202,966–55,205,705, 2,740 basesExon 6: 55,223,889–55,224,012, 124 basesExon 5: 55,228,609–55,228,712, 104 basesExon 4: 55,230,401–55,230,486, 86 basesExon 3: 55,234,782–55,234,956, 175 basesExon 2: 55,270,165–55,270,284, 120 basesExon 1: 55,289,716–55,289,813, 98 bases76543215′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 3.4 kb of the gene's 86.8 kb; 666 of those bases code for the protein.

How a genome test reads RAB27A

45

positions in RAB27A 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 86.8 kb of RAB27A, introns included, not only the 3.4 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.). RAB27A gene: RAB27A, member RAS oncogene family. Retrieved 17 October 2026, from https://dantelabs.com/genes/rab27a

Vancouver

Dante Labs. RAB27A gene: RAB27A, member RAS oncogene family [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rab27a

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