FAT2

Chr 5

FAT atypical cadherin 2

Also known as: CDHF8, CDHR9, HFAT2, MEGF1, SCA45

This gene is the second identified human homolog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has two epidermal growth factor (EGF)-like repeats and one laminin G domain. This protein most likely functions as a cell adhesion molecule, controlling cell proliferation and playing an important role in cerebellum development. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 45
0
Active trials
19
Pubs (1 yr)
P/LP submissions
P/LP missense
0.51
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.000
Z-score 6.38
OE 0.40 (0.320.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.72Z-score
OE missense 0.96 (0.930.99)
2292 obs / 2390.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.320.51)
00.351.4
Missense OE?0.96 (0.930.99)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 54 / 133.6Missense obs/exp: 2292 / 2390.6Syn Z: -1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FAT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →