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Gene

FAT4

FAT atypical cadherin 4

Summary

Cytogenetic location
4q28.1
Coordinates
Chromosome 4: 125,314,955–125,492,932 (GRCh38)
Exons
18 exons across 178 kb
Protein
4,983 amino acids
Inheritance
Autosomal recessive
Also known as
CDHF14, FAT-J, CDHR11
MANE Select transcript
ENST00000394329.9NM_001291303.3
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Primary Lymphoedema & Lymphatic Malformations

    • Hennekam Syndrome Type 2Autosomal recessive

      A condition caused by changes in FAT4 that combines lymphoedema, swollen lymph vessels in the gut and variable learning difficulties.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How FAT4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where FAT4 sits. FAT4 and 0 genes near it on chromosome 4, from 124,903,944 to 125,903,943.Chromosome 44q28.1p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2125 Mb125.2 Mb125.4 Mb125.6 Mb125.8 MbFAT4: 125,314,955–125,492,932, forward strandFAT4Diagram of FAT4: 18 exons on the forward strand of chromosome 4Exon 2: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 1: 125,314,955–125,315,977, 1,023 basesExon 2: 125,316,400–125,321,586, 5,187 basesExon 3: 125,398,784–125,398,915, 132 basesExon 4: 125,406,880–125,407,141, 262 basesExon 5: 125,408,444–125,408,794, 351 basesExon 6: 125,414,884–125,415,806, 923 basesExon 7: 125,416,448–125,416,622, 175 basesExon 8: 125,434,245–125,434,425, 181 basesExon 9: 125,446,293–125,446,543, 251 basesExon 10: 125,448,461–125,452,810, 4,350 basesExon 11: 125,463,563–125,463,667, 105 basesExon 12: 125,468,512–125,468,819, 308 basesExon 13: 125,476,171–125,476,256, 86 basesExon 14: 125,477,155–125,477,334, 180 basesExon 15: 125,479,741–125,479,865, 125 basesExon 16: 125,481,521–125,481,738, 218 basesExon 17: 125,487,345–125,487,606, 262 basesExon 18: 125,489,901–125,492,932, 3,032 bases1246810121416185′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 17.2 kb of the gene's 178 kb; 14,952 of those bases code for the protein.

How a genome test reads FAT4

14

positions in FAT4 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 178 kb of FAT4, introns included, not only the 17.2 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.). FAT4 gene: FAT atypical cadherin 4. Retrieved 17 October 2026, from https://dantelabs.com/genes/fat4

Vancouver

Dante Labs. FAT4 gene: FAT atypical cadherin 4 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fat4

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