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Gene

CYFIP2

cytoplasmic FMR1 interacting protein 2

Summary

Cytogenetic location
5q33.3
Coordinates
Chromosome 5: 157,266,123–157,395,594 (GRCh38)
Exons
31 exons across 129.5 kb
Protein
1,253 amino acids
Also known as
PIR121
MANE Select transcript
ENST00000620254.5NM_001037333.3
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

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 3 GenCC submitters rate it definitive or strong

    How CYFIP2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where CYFIP2 sits. CYFIP2 and 16 genes near it on chromosome 5, from 156,830,859 to 157,830,858.Chromosome 55q33.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3157 Mb157.2 Mb157.4 Mb157.6 Mb157.8 MbPPP1R2B: 156,850,295–156,852,528, forward strandPPP1R2BTIMD4: 156,918,639–156,963,230, reverse strandTIMD4HAVCR1: 157,025,939–157,069,396, reverse strandHAVCR1HAVCR2: 157,085,422–157,142,869, reverse strandHAVCR2MED7: 157,134,848–157,159,019, reverse strandMED7ITK: 157,142,933–157,255,185, forward strandITKGARIN3: 157,161,846–157,166,264, reverse strandGARIN3CYFIP2: 157,266,123–157,395,594, forward strandCYFIP2: 157,341,596–157,460,100, reverse strandFNDC9: 157,341,598–157,345,766, reverse strandFNDC9ADAM19: 157,395,534–157,575,858, reverse strandADAM19NIPAL4: 157,460,213–157,474,723, forward strandNIPAL4SOX30: 157,624,798–157,671,480, reverse strandSOX30C5orf52: 157,671,515–157,680,174, forward strandC5orf52THG1L: 157,731,402–157,741,449, forward strandTHG1LLSM11: 157,743,706–157,760,709, forward strandLSM11CLINT1: 157,783,121–157,859,206, reverse strandCLINT1Diagram of CYFIP2: 31 exons on the forward strand of chromosome 5Exon 4: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 19: 4 known disease-causing sitesExon 22: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 1: 157,266,123–157,266,195, 73 basesExon 2: 157,285,339–157,285,478, 140 basesExon 3: 157,287,019–157,287,108, 90 basesExon 4: 157,294,783–157,294,860, 78 basesExon 5: 157,296,673–157,296,774, 102 basesExon 6: 157,300,715–157,300,896, 182 basesExon 7: 157,302,794–157,302,890, 97 basesExon 8: 157,304,238–157,304,366, 129 basesExon 9: 157,307,761–157,307,865, 105 basesExon 10: 157,309,743–157,309,834, 92 basesExon 11: 157,311,664–157,311,781, 118 basesExon 12: 157,314,344–157,314,463, 120 basesExon 13: 157,314,969–157,315,094, 126 basesExon 14: 157,319,762–157,319,928, 167 basesExon 15: 157,320,655–157,320,802, 148 basesExon 16: 157,323,921–157,324,074, 154 basesExon 17: 157,325,482–157,325,638, 157 basesExon 18: 157,326,171–157,326,267, 97 basesExon 19: 157,327,973–157,328,049, 77 basesExon 20: 157,330,742–157,330,850, 109 basesExon 21: 157,333,327–157,333,446, 120 basesExon 22: 157,339,057–157,339,256, 200 basesExon 23: 157,341,070–157,341,157, 88 basesExon 24: 157,359,005–157,359,148, 144 basesExon 25: 157,360,282–157,360,372, 91 basesExon 26: 157,361,468–157,361,598, 131 basesExon 27: 157,382,590–157,382,662, 73 basesExon 28: 157,383,265–157,383,359, 95 basesExon 29: 157,389,189–157,389,427, 239 basesExon 30: 157,390,521–157,390,668, 148 basesExon 31: 157,392,833–157,395,594, 2,762 bases151015202530315′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 6.5 kb of the gene's 129.5 kb; 3,762 of those bases code for the protein.

    How a genome test reads CYFIP2

    13

    positions in CYFIP2 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 129.5 kb of CYFIP2, introns included, not only the 6.5 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.). CYFIP2 gene: cytoplasmic FMR1 interacting protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/cyfip2

    Vancouver

    Dante Labs. CYFIP2 gene: cytoplasmic FMR1 interacting protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cyfip2

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