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Gene

BLNK

B cell linker

Summary

Cytogenetic location
10q24.1
Coordinates
Chromosome 10: 96,189,171–96,271,569 (GRCh38)
Exons
17 exons across 82.4 kb
Protein
456 amino acids
Also known as
SLP65, Ly57, SLP-65, BLNK-s, BASH, bca
MANE Select transcript
ENST00000224337.10NM_013314.4
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 reports relevant to this gene

  • Agammaglobulinaemia (XLA and Autosomal Forms)

    • Autosomal agammaglobulinaemia

      Absent or very few B cells caused by changes in genes of the B-cell receptor pathway, such as IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 and TCF3.

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

      Lifelong immunoglobulin replacement, prompt treatment of infections and avoiding live vaccines prevent most serious complications.

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
      • 4 GenCC submitters rate it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

How BLNK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where BLNK sits. BLNK and 10 genes near it on chromosome 10, from 95,730,370 to 96,730,369.Chromosome 1010q24.1p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.395.8 Mb96 Mb96.2 Mb96.4 Mb96.6 MbENTPD1: 95,711,752–95,901,433, forward strandENTPD1: 95,860,548–95,924,844, forward strandCC2D2B: 95,907,603–96,033,745, forward strandCC2D2BCCNJ: 96,043,053–96,060,870, forward strandCCNJZNF518A: 96,129,695–96,205,288, forward strandZNF518ABLNK: 96,189,171–96,271,569, reverse strandBLNKDNTT: 96,304,409–96,338,564, forward strandDNTTOPALIN: 96,343,216–96,359,365, reverse strandOPALINTLL2: 96,364,608–96,513,958, reverse strandTLL2TM9SF3: 96,518,110–96,587,452, reverse strandTM9SF3PIK3AP1: 96,591,882–96,720,902, reverse strandPIK3AP1Diagram of BLNK: 17 exons on the reverse strand of chromosome 10Exon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 1: 1 known disease-causing siteExon 17: 96,189,171–96,192,092, 2,922 basesExon 16: 96,196,908–96,197,063, 156 basesExon 15: 96,200,075–96,200,158, 84 basesExon 14: 96,200,982–96,201,058, 77 basesExon 13: 96,204,057–96,204,088, 32 basesExon 12: 96,204,532–96,204,616, 85 basesExon 11: 96,207,011–96,207,053, 43 basesExon 10: 96,207,872–96,207,899, 28 basesExon 9: 96,209,838–96,209,907, 70 basesExon 8: 96,215,321–96,215,389, 69 basesExon 7: 96,216,653–96,216,734, 82 basesExon 6: 96,223,826–96,223,989, 164 basesExon 5: 96,227,410–96,227,566, 157 basesExon 4: 96,230,794–96,230,834, 41 basesExon 3: 96,242,735–96,242,784, 50 basesExon 2: 96,246,984–96,247,049, 66 basesExon 1: 96,271,352–96,271,569, 218 bases1716141210864215′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 4.3 kb of the gene's 82.4 kb; 1,371 of those bases code for the protein.

How a genome test reads BLNK

13

positions in BLNK 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 82.4 kb of BLNK, introns included, not only the 4.3 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.). BLNK gene: B cell linker. Retrieved 17 October 2026, from https://dantelabs.com/genes/blnk

Vancouver

Dante Labs. BLNK gene: B cell linker [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/blnk

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