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Gene

FCHO1

FCH and mu domain containing endocytic adaptor 1

Summary

Cytogenetic location
19p13.11
Coordinates
Chromosome 19: 17,751,477–17,788,561 (GRCh38)
Exons
29 exons across 37.1 kb
Protein
889 amino acids
Also known as
KIAA0290
MANE Select transcript
ENST00000596536.6NM_015122.3
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

    • Other Inborn Errors of Immunity

      • 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
        • 3 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 FCHO1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 19, with a bracket where FCHO1 sits. FCHO1 and 41 genes near it on chromosome 19, from 17,270,019 to 18,270,018.Chromosome 1919p13.11p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4317.4 Mb17.6 Mb17.8 Mb18 Mb18.2 MbUSHBP1: 17,249,171–17,282,786, reverse strandBABAM1: 17,267,343–17,281,249, forward strand: 17,267,418–17,282,966, forward strandANKLE1: 17,281,645–17,287,649, forward strandABHD8: 17,292,131–17,310,236, reverse strandABHD8MRPL34: 17,292,543–17,306,847, forward strandDDA1: 17,309,518–17,323,315, forward strandDDA1ANO8: 17,323,223–17,334,864, reverse strandANO8GTPBP3: 17,334,920–17,342,735, forward strandGTPBP3PLVAP: 17,351,450–17,377,356, reverse strandPLVAPCCDC194: 17,387,196–17,394,201, reverse strandCCDC194BST2: 17,402,933–17,407,393, reverse strandBST2MVB12A: 17,405,722–17,436,364, forward strandMVB12ATMEM221: 17,435,509–17,448,679, reverse strandTMEM221: 17,436,611–17,460,804, reverse strandNXNL1: 17,455,425–17,460,926, reverse strandNXNL1SLC27A1: 17,467,666–17,506,190, forward strandSLC27A1PGLS: 17,511,607–17,521,288, forward strandPGLSNIBAN3: 17,523,301–17,553,839, forward strandNIBAN3COLGALT1: 17,555,590–17,583,162, forward strandCOLGALT1UNC13A: 17,601,327–17,688,382, reverse strandUNC13AMAP1S: 17,719,242–17,734,515, forward strandMAP1SFCHO1: 17,751,477–17,788,561, forward strandFCHO1B3GNT3: 17,794,697–17,814,175, forward strandB3GNT3INSL3: 17,816,512–17,821,574, reverse strandINSL3JAK3: 17,824,780–17,848,071, reverse strandJAK3RPL18A: 17,859,868–17,871,283, forward strandRPL18ASLC5A5: 17,871,939–17,895,174, forward strandSLC5A5CCDC124: 17,932,588–17,944,914, forward strandCCDC124KCNN1: 17,947,484–18,000,085, forward strandKCNN1ARRDC2: 18,001,126–18,015,694, forward strandARRDC2IL12RB1: 18,058,995–18,098,944, reverse strandIL12RB1MAST3: 18,097,749–18,151,692, forward strandMAST3PIK3R2: 18,153,155–18,170,541, forward strandPIK3R2: 18,153,158–18,178,117, forward strandIFI30: 18,173,150–18,178,122, forward strandIFI30MPV17L2: 18,193,197–18,196,948, forward strandMPV17L2RAB3A: 18,196,752–18,204,055, reverse strandPDE4C: 18,207,961–18,255,419, reverse strandPDE4CPDE4C: 18,207,965–18,248,200, reverse strandPDE4CCIST1: 18,249,950–18,255,400, reverse strandCIST1IQCN: 18,257,098–18,274,500, reverse strandIQCNDiagram of FCHO1: 29 exons on the forward strand of chromosome 19Exon 1: 17,751,477–17,751,577, 101 basesExon 2: 17,754,317–17,754,361, 45 basesExon 3: 17,754,592–17,754,681, 90 basesExon 4: 17,755,118–17,755,191, 74 basesExon 5: 17,762,762–17,762,853, 92 basesExon 6: 17,764,375–17,764,449, 75 basesExon 7: 17,766,669–17,766,810, 142 basesExon 8: 17,770,425–17,770,577, 153 basesExon 9: 17,770,792–17,770,896, 105 basesExon 10: 17,772,457–17,772,555, 99 basesExon 11: 17,772,645–17,772,741, 97 basesExon 12: 17,774,239–17,774,283, 45 basesExon 13: 17,774,394–17,774,478, 85 basesExon 14: 17,775,056–17,775,080, 25 basesExon 15: 17,775,456–17,775,513, 58 basesExon 16: 17,775,983–17,776,161, 179 basesExon 17: 17,776,247–17,776,271, 25 basesExon 18: 17,776,635–17,776,686, 52 basesExon 19: 17,778,137–17,778,228, 92 basesExon 20: 17,778,609–17,778,884, 276 basesExon 21: 17,781,231–17,781,343, 113 basesExon 22: 17,781,452–17,781,539, 88 basesExon 23: 17,781,712–17,781,820, 109 basesExon 24: 17,783,017–17,783,172, 156 basesExon 25: 17,784,103–17,784,235, 133 basesExon 26: 17,784,725–17,784,924, 200 basesExon 27: 17,786,574–17,786,629, 56 basesExon 28: 17,787,682–17,787,846, 165 basesExon 29: 17,788,284–17,788,561, 278 bases1510152025295′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 3.2 kb of the gene's 37.1 kb; 2,670 of those bases code for the protein.

    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.
    • 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.). FCHO1 gene: FCH and mu domain containing endocytic adaptor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fcho1

    Vancouver

    Dante Labs. FCHO1 gene: FCH and mu domain containing endocytic adaptor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fcho1

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