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Gene

CXCR4

C-X-C motif chemokine receptor 4

Summary

Cytogenetic location
2q22.1
Coordinates
Chromosome 2: 136,114,349–136,118,149 (GRCh38)
Exons
2 exons across 3.8 kb
Protein
352 amino acids
Inheritance
Autosomal dominant
Also known as
LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184
MANE Select transcript
ENST00000241393.4NM_003467.3
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

  • Severe Congenital Neutropenia

    • WHIM Syndrome 1Autosomal dominant

      A dominant immune condition caused by gain-of-function changes in CXCR4, featuring warts, low antibody levels, recurrent infections and neutrophils retained in the bone marrow.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis allows infection prevention and antibody replacement, and treatment with mavorixafor, a CXCR4 blocker, may be considered.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CXCR4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where CXCR4 sits. CXCR4 and 5 genes near it on chromosome 2, from 135,616,249 to 136,616,248.Chromosome 22q22.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3135.8 Mb136 Mb136.2 Mb136.4 Mb136.6 MbR3HDM1: 135,531,448–135,725,497, forward strandR3HDM1UBXN4: 135,741,626–135,785,063, forward strandUBXN4LCT: 135,787,850–135,837,184, reverse strandLCTMCM6: 135,839,626–135,876,484, reverse strandMCM6DARS1: 135,904,936–135,986,100, reverse strandDARS1CXCR4: 136,114,349–136,118,149, reverse strandCXCR4Diagram of CXCR4: 2 exons on the reverse strand of chromosome 2Exon 2: 30 known disease-causing sitesExon 2: 136,114,349–136,115,912, 1,564 basesExon 1: 136,118,046–136,118,149, 104 bases215′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 1.7 kb of the gene's 3.8 kb; 1,059 of those bases code for the protein.

How a genome test reads CXCR4

30

positions in CXCR4 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 3.8 kb of CXCR4, introns included, not only the 1.7 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.). CXCR4 gene: C-X-C motif chemokine receptor 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/cxcr4

Vancouver

Dante Labs. CXCR4 gene: C-X-C motif chemokine receptor 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cxcr4

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