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Gene

FIG4

FIG4 phosphoinositide 5-phosphatase

Summary

Cytogenetic location
6q21
Coordinates
Chromosome 6: 109,691,296–109,825,426 (GRCh38)
Exons
23 exons across 134.1 kb
Protein
907 amino acids
Also known as
SAC3, hSac3, dJ249I4.1, ALS11, CMT4J
Previous symbols
KIAA0274
MANE Select transcript
ENST00000230124.8NM_014845.6
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

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

How FIG4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where FIG4 sits. FIG4 and 10 genes near it on chromosome 6, from 109,258,361 to 110,258,360.Chromosome 66q21p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27109.4 Mb109.6 Mb109.8 Mb110 Mb110.2 MbCD164: 109,307,627–109,382,536, reverse strandCD164PPIL6: 109,390,215–109,441,171, reverse strandPPIL6SMPD2: 109,440,678–109,446,515, forward strandSMPD2MICAL1: 109,444,062–109,465,968, reverse strandMICAL1ZBTB24: 109,460,632–109,483,273, reverse strandZBTB24AK9: 109,492,855–109,691,229, reverse strandAK9FIG4: 109,691,296–109,825,426, forward strandFIG4GPR6: 109,978,256–109,980,765, forward strandGPR6WASF1: 110,099,581–110,180,032, reverse strandWASF1CDC40: 110,180,141–110,254,275, forward strandCDC40METTL24: 110,242,892–110,358,502, reverse strandMETTL24Diagram of FIG4: 23 exons on the forward strand of chromosome 6Exon 1: 3 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 5 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 17: 2 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 19: 3 known disease-causing sitesExon 20: 6 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 1: 109,691,296–109,691,501, 206 basesExon 2: 109,715,078–109,715,176, 99 basesExon 3: 109,716,445–109,716,568, 124 basesExon 4: 109,727,109–109,727,265, 157 basesExon 5: 109,732,637–109,732,687, 51 basesExon 6: 109,735,150–109,735,298, 149 basesExon 7: 109,738,325–109,738,453, 129 basesExon 8: 109,741,444–109,741,544, 101 basesExon 9: 109,743,110–109,743,272, 163 basesExon 10: 109,743,675–109,743,772, 98 basesExon 11: 109,760,250–109,760,383, 134 basesExon 12: 109,762,091–109,762,207, 117 basesExon 13: 109,763,937–109,763,982, 46 basesExon 14: 109,765,013–109,765,161, 149 basesExon 15: 109,766,729–109,766,895, 167 basesExon 16: 109,776,922–109,777,060, 139 basesExon 17: 109,784,970–109,785,028, 59 basesExon 18: 109,786,302–109,786,449, 148 basesExon 19: 109,789,594–109,789,677, 84 basesExon 20: 109,791,376–109,791,571, 196 basesExon 21: 109,792,582–109,792,664, 83 basesExon 22: 109,796,765–109,796,851, 87 basesExon 23: 109,825,088–109,825,426, 339 bases15101520235′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 kb of the gene's 134.1 kb; 2,724 of those bases code for the protein.

How a genome test reads FIG4

107

positions in FIG4 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 134.1 kb of FIG4, introns included, not only the 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.). FIG4 gene: FIG4 phosphoinositide 5-phosphatase. Retrieved 16 October 2026, from https://dantelabs.com/genes/fig4

Vancouver

Dante Labs. FIG4 gene: FIG4 phosphoinositide 5-phosphatase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fig4

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