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Gene

SHROOM4

shroom family member 4

Summary

Cytogenetic location
Xp11.22
Coordinates
Chromosome X: 50,586,796–50,814,194 (GRCh38)
Exons
9 exons across 227.4 kb
Protein
1,493 amino acids
Also known as
KIAA1202, Shrm4, SHAP
MANE Select transcript
ENST00000376020.9NM_020717.5
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

    • 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.

        • 1 GenCC submitter rates it definitive or strong

    How SHROOM4 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome X, with a bracket where SHROOM4 sits. SHROOM4 and 4 genes near it on chromosome X, from 50,200,495 to 51,200,494.Chromosome XXp11.22p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2850.4 Mb50.6 Mb50.8 Mb51 Mb51.2 MbAKAP4: 50,190,777–50,201,007, reverse strandAKAP4CCNB3: 50,202,713–50,351,914, forward strandCCNB3DGKK: 50,365,405–50,470,850, reverse strandDGKKSHROOM4: 50,586,796–50,814,194, reverse strandSHROOM4BMP15: 50,910,735–50,916,641, forward strandBMP15Diagram of SHROOM4: 9 exons on the reverse strand of chromosome XExon 9: 50,586,796–50,596,964, 10,169 basesExon 8: 50,598,266–50,598,535, 270 basesExon 7: 50,602,633–50,602,813, 181 basesExon 6: 50,607,381–50,608,184, 804 basesExon 5: 50,627,614–50,627,675, 62 basesExon 4: 50,633,178–50,635,668, 2,491 basesExon 3: 50,638,174–50,638,308, 135 basesExon 2: 50,695,786–50,695,937, 152 basesExon 1: 50,813,902–50,814,194, 293 bases9876543215′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 14.6 kb of the gene's 227.4 kb; 4,482 of those bases code for the protein.

    How a genome test reads SHROOM4

    1

    position in SHROOM4 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 227.4 kb of SHROOM4, introns included, not only the 14.6 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.). SHROOM4 gene: shroom family member 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/shroom4

    Vancouver

    Dante Labs. SHROOM4 gene: shroom family member 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/shroom4

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