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Gene

RBM8A

RNA binding motif protein 8A

Summary

Cytogenetic location
1q21.1
Coordinates
Chromosome 1: 145,921,556–145,927,484 (GRCh38)
Exons
6 exons across 5.9 kb
Protein
174 amino acids
Also known as
ZNRP, BOV-1A, BOV-1B, BOV-1C, Y14
Previous symbols
RBM8
MANE Select transcript
ENST00000583313.7NM_005105.5
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

  • Inherited Thrombocytopenias

    • Inherited Thrombocytopenia

      A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.

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

      A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.

How RBM8A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where RBM8A sits. RBM8A and 21 genes near it on chromosome 1, from 145,424,520 to 146,424,519.Chromosome 11q21.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44145.6 Mb145.8 Mb146 Mb146.2 Mb146.4 MbNBPF20: 145,289,900–145,425,624, reverse strandNBPF20GPHRA: 145,607,975–145,671,421, forward strandGPHRAPDZK1: 145,670,848–145,721,615, reverse strandPDZK1CD160: 145,719,443–145,740,760, forward strandCD160RNF115: 145,738,868–145,824,134, reverse strandRNF115POLR3C: 145,823,776–145,844,721, forward strandPOLR3CNUDT17: 145,845,603–145,848,954, forward strandNUDT17PIAS3: 145,848,521–145,859,836, reverse strandPIAS3ANKRD35: 145,865,390–145,886,088, reverse strandANKRD35ITGA10: 145,891,206–145,910,111, reverse strandPEX11B: 145,911,348–145,918,747, reverse strandPEX11B: 145,917,714–145,926,741, reverse strandRBM8A: 145,921,556–145,927,484, reverse strandRBM8A: 145,927,258–145,977,811, forward strandLIX1L: 145,933,423–145,958,055, reverse strandLIX1LPOLR3GL: 145,957,026–145,978,849, forward strandANKRD34A: 145,959,441–145,964,575, reverse strandTXNIP: 145,992,435–145,996,580, reverse strandHJV: 146,017,468–146,036,746, reverse strandHJVNBPF10: 146,064,711–146,229,000, reverse strandNBPF10NOTCH2NLA: 146,145,524–146,229,073, reverse strandNOTCH2NLAPPIAL4H: 146,344,006–146,344,765, reverse strandPPIAL4HDiagram of RBM8A: 6 exons on the reverse strand of chromosome 1Exon 6: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 6: 145,921,556–145,925,927, 4,372 basesExon 5: 145,926,041–145,926,177, 137 basesExon 4: 145,926,482–145,926,618, 137 basesExon 3: 145,926,809–145,926,886, 78 basesExon 2: 145,927,018–145,927,077, 60 basesExon 1: 145,927,360–145,927,484, 125 bases6543215′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 4.9 kb of the gene's 5.9 kb; 525 of those bases code for the protein.

How a genome test reads RBM8A

7

positions in RBM8A where ClinVar classes a change as pathogenic or likely pathogenic

7 of them (100%) fall in regions short reads find hard.

  • Segmental duplications (7 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 5.9 kb of RBM8A, introns included, not only the 4.9 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.). RBM8A gene: RNA binding motif protein 8A. Retrieved 16 October 2026, from https://dantelabs.com/genes/rbm8a

Vancouver

Dante Labs. RBM8A gene: RNA binding motif protein 8A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rbm8a

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