Gene
FAT1
FAT atypical cadherin 1
- HGNC 3595↗(opens in a new tab)
- Ensembl gene ENSG00000083857↗(opens in a new tab)
- NCBI Gene 2195↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q35.2
- Coordinates
- Chromosome 4: 186,587,794–186,723,856 (GRCh38)
- Exons
- 27 exons across 136.1 kb
- Protein
- 4,588 amino acids
- Also known as
- CDHF7, CDHR8
- Previous symbols
- FAT
- MANE Select transcript
- ENST00000441802.7NM_005245.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Focal Segmental Glomerulosclerosis
A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.
- ClinGen rates the link strong
- 1 GenCC submitter rates it definitive or strong
Glomerulosclerosis
A hardening of the kidney glomerulus caused by scarring of the blood vessels.
- ClinGen rates the link strong
- 1 GenCC submitter rates it definitive or strong
Microphthalmia, Anophthalmia & Coloboma
- Syndromic Microphthalmia
Microphthalmia occurring with features outside the eye, caused by changes in genes such as SOX2, OTX2, BCOR, STRA6 and BMP4.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
A genetic diagnosis guides checks for associated features, such as pituitary hormone problems with SOX2 or OTX2, and informs recurrence risk.
How FAT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 14.8 kb of the gene's 136.1 kb; 13,767 of those bases code for the protein.
Genes linked to the same conditions
- ACTN4actinin alpha 4Shares 2 conditions
- ANLNanillin, actin binding proteinShares 2 conditions
- CRB2crumbs cell polarity complex component 2Shares 2 conditions
- INF2inverted formin 2Shares 2 conditions
- MYO1Emyosin IEShares 2 conditions
- PAX2paired box 2Shares 2 conditions
- TRPC6transient receptor potential cation channel subfamily C member 6Shares 2 conditions
- BCORBCL6 corepressorShares 1 condition
- BMP4bone morphogenetic protein 4Shares 1 condition
- COX7Bcytochrome c oxidase subunit 7BShares 1 condition
- ERCC1ERCC excision repair 1, endonuclease non-catalytic subunitShares 1 condition
- ERCC2ERCC excision repair 2, TFIIH core complex helicase subunitShares 1 condition
External links
Gene records
Transcript
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.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FAT1 gene: FAT atypical cadherin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/fat1
Dante Labs. FAT1 gene: FAT atypical cadherin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fat1
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