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Gene

FAT2

FAT atypical cadherin 2

Summary

Cytogenetic location
5q33.1
Coordinates
Chromosome 5: 151,504,092–151,591,331 (GRCh38)
Exons
24 exons across 87.2 kb
Protein
4,349 amino acids
Inheritance
Autosomal dominant
Also known as
MEGF1, CDHF8, HFAT2, CDHR9
MANE Select transcript
ENST00000261800.6NM_001447.3
Locus type
gene with protein product

Curated report relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

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

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

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 FAT2 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 FAT2 sits. FAT2 and 11 genes near it on chromosome 5, from 151,047,712 to 152,047,711.Chromosome 55q33.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3151.2 Mb151.4 Mb151.6 Mb151.8 Mb152 MbTNIP1: 151,029,935–151,093,577, reverse strandTNIP1ANXA6: 151,100,706–151,157,979, reverse strandANXA6CCDC69: 151,181,049–151,224,156, reverse strandCCDC69GM2A: 151,212,150–151,281,466, forward strandGM2ASLC36A3: 151,276,358–151,303,766, reverse strandSLC36A3SLC36A2: 151,314,972–151,347,602, reverse strandSLC36A2SLC36A1: 151,437,046–151,525,119, forward strandSLC36A1FAT2: 151,504,092–151,591,331, reverse strandFAT2SPARC: 151,661,096–151,687,352, reverse strandSPARCATOX1: 151,728,919–151,772,532, reverse strandATOX1G3BP1: 151,770,951–151,812,911, forward strandG3BP1GLRA1: 151,822,513–151,924,851, reverse strandGLRA1Diagram of FAT2: 24 exons on the reverse strand of chromosome 5Exon 4: 1 known disease-causing siteExon 24: 151,504,092–151,506,097, 2,006 basesExon 23: 151,507,154–151,507,611, 458 basesExon 22: 151,510,021–151,510,174, 154 basesExon 21: 151,512,165–151,512,606, 442 basesExon 20: 151,517,620–151,517,765, 146 basesExon 19: 151,521,276–151,522,086, 811 basesExon 18: 151,525,768–151,525,965, 198 basesExon 17: 151,527,234–151,527,377, 144 basesExon 16: 151,527,996–151,528,133, 138 basesExon 15: 151,529,178–151,529,392, 215 basesExon 14: 151,531,587–151,531,970, 384 basesExon 13: 151,534,409–151,534,642, 234 basesExon 12: 151,537,793–151,537,946, 154 basesExon 11: 151,540,567–151,540,763, 197 basesExon 10: 151,542,285–151,546,337, 4,053 basesExon 9: 151,549,295–151,549,505, 211 basesExon 8: 151,550,590–151,550,871, 282 basesExon 7: 151,551,467–151,551,606, 140 basesExon 6: 151,553,177–151,553,387, 211 basesExon 5: 151,554,362–151,554,673, 312 basesExon 4: 151,556,344–151,556,402, 59 basesExon 3: 151,563,325–151,563,639, 315 basesExon 2: 151,565,673–151,568,951, 3,279 basesExon 1: 151,591,165–151,591,331, 167 bases2422201816141210864215′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 14.7 kb of the gene's 87.2 kb; 13,050 of those bases code for the protein.

How a genome test reads FAT2

1

position in FAT2 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 87.2 kb of FAT2, introns included, not only the 14.7 kb of exons.

Genes linked to the same conditions

Traits linked to FAT2

The Human Phenotype Ontology lists these as features of the rare conditions FAT2 can cause. Each trait's page lists the other genes linked to it.

External links

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.). FAT2 gene: FAT atypical cadherin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/fat2

Vancouver

Dante Labs. FAT2 gene: FAT atypical cadherin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fat2

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