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 cadher... See more...

Aliases for FAT2 Gene

Aliases for FAT2 Gene

  • FAT Atypical Cadherin 2 2 3 5
  • Multiple Epidermal Growth Factor-Like Domains Protein 1 3 4
  • Multiple EGF-Like Domains Protein 1 3 4
  • Cadherin-Related Family Member 9 2 3
  • Cadherin Family Member 8 3 4
  • Protocadherin Fat 2 3 4
  • CDHF8 3 4
  • MEGF1 3 4
  • Multiple Epidermal Growth Factor-Like Domains 1 3
  • FAT Tumor Suppressor (Drosophila) Homolog 2 2
  • FAT Tumor Suppressor Homolog 2 (Drosophila) 2
  • FAT Tumor Suppressor Homolog 2 3
  • Protocadherin FAT2 3
  • KIAA0811 4
  • CDHR9 3
  • HFAT2 3
  • SCA45 3
  • HFat2 4

External Ids for FAT2 Gene

Previous GeneCards Identifiers for FAT2 Gene

  • GC05M150952
  • GC05M151480
  • GC05M150912
  • GC05M150863
  • GC05M146029
  • GC05M150883

Summaries for FAT2 Gene

Entrez Gene Summary for FAT2 Gene

  • 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]

GeneCards Summary for FAT2 Gene

FAT2 (FAT Atypical Cadherin 2) is a Protein Coding gene. Diseases associated with FAT2 include Spinocerebellar Ataxia 45 and Skin Squamous Cell Carcinoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT1.

UniProtKB/Swiss-Prot Summary for FAT2 Gene

  • Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity).

Additional gene information for FAT2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAT2 Gene

Genomics for FAT2 Gene

GeneHancer (GH) Regulatory Elements for FAT2 Gene

Promoters and enhancers for FAT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J151568 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 756 +81.2 81219 4.9 SP1 EGR1 IKZF1 IKZF2 ZNF143 CTBP1 POLR2A PAX8 ZSCAN5C DPF2 FAT2 RF00017-5013 NONHSAG041972.2
GH05J151652 Enhancer 1 Ensembl ENCODE dbSUPER 750.6 -0.1 -85 0.6 CTCF MYC RBM39 MAX RAD21 REST TRIM22 ZNF143 SMARCA5 RUNX3 FAT2 G3BP1 RBM22 SPARC LOC105378231 RPLP1P6 ATOX1 ENSG00000253921 ZNF300 lnc-ATOX1-3
GH05J151588 Promoter/Enhancer 0.8 EPDnew ENCODE dbSUPER 760.8 +62.1 62082 3.6 POLR2A NR2F1 FAT2 lnc-SLC36A1-2 ENSG00000288081
GH05J151446 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.6 +203.6 203569 3.3 SIN3A CTCF SREBF1 ZBTB6 FOXA1 MLX RBPJ POLR2A USF2 ATF1 SLC36A1 ZNF300P1 G3BP1 ZNF300 SLC36A2 IRGM RPS14 RBM22 FAT2 ENSG00000271795
GH05J151612 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +35.0 35039 9.8 LCORL TCF7L2 CEBPZ NR2F6 ATF1 ZNF217 CREB1 ETV6 NFIB RERE G3BP1 LOC105378231 ZNF300 LINC01933 ENSG00000253897 SLC36A1 FAT2 ZNF300P1 RPLP1P6 ATOX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAT2 gene promoter:
  • C/EBPalpha
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • HOXA5
  • Olf-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for FAT2 Gene

Genomic Locations for FAT2 Gene
chr5:151,504,092-151,652,140
(GRCh38/hg38)
Size:
148,049 bases
Orientation:
Minus strand
chr5:150,883,653-150,948,505
(GRCh37/hg19)
Size:
64,853 bases
Orientation:
Minus strand

Genomic View for FAT2 Gene

Genes around FAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAT2 Gene

Proteins for FAT2 Gene

  • Protein details for FAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYQ8-FAT2_HUMAN
    Recommended name:
    Protocadherin Fat 2
    Protein Accession:
    Q9NYQ8
    Secondary Accessions:
    • O75091
    • Q9NSR7

    Protein attributes for FAT2 Gene

    Size:
    4349 amino acids
    Molecular mass:
    479317 Da
    Quaternary structure:
    • Homodimer.

neXtProt entry for FAT2 Gene

Post-translational modifications for FAT2 Gene

  • Glycosylation at Asn39, Asn210, Asn280, Asn330, Asn459, Asn568, Asn627, Asn655, Asn789, Asn996, Asn1175, Asn1383, Asn1417, Asn1904, Asn1998, Asn2007, Asn2165, Asn2183, Asn2325, Asn2368, Asn2387, Asn2430, Asn2470, Asn2547, Asn2597, Asn2654, Asn3125, Asn3276, Asn3310, Asn3430, Asn3471, Asn3601, Asn3772, Asn3813, Asn3840, Asn3873, Asn3904, Asn3989, and Thr4036
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT2 Gene

No data available for DME Specific Peptides for FAT2 Gene

Domains & Families for FAT2 Gene

Gene Families for FAT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for FAT2 Gene

GenScript: Design optimal peptide antigens:
  • Multiple epidermal growth factor-like domains protein 1 (FAT2_HUMAN)
  • KIAA0811 splice variant 1 (Q5W9G8_HUMAN)
  • FAT2 protein (Q6PIA2_HUMAN)
  • KIAA0811 protein (Q75QY0_HUMAN)
genes like me logo Genes that share domains with FAT2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FAT2 Gene

Function for FAT2 Gene

Molecular function for FAT2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (By similarity).
GENATLAS Biochemistry:
Drosophila FAT tumor suppressor,homolog 2

Phenotypes From GWAS Catalog for FAT2 Gene

Gene Ontology (GO) - Molecular Function for FAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FAT2: view
genes like me logo Genes that share phenotypes with FAT2: view

Human Phenotype Ontology for FAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAT2 Gene

MGI Knock Outs for FAT2:
  • Fat2 Fat2<tm1Anjm>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAT2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FAT2 Gene

Localization for FAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAT2 Gene

Cell membrane; Single-pass type I membrane protein. Cell junction. Golgi apparatus, trans-Golgi network. Note=Localized at adhesion zippers (early state of adherens junctions) of keratinocytes. {ECO:0000269 PubMed:17900869}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAT2 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for FAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0005913 cell-cell adherens junction IDA 17900869
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAT2 Gene

Pathways & Interactions for FAT2 Gene

PathCards logo

SuperPathways for FAT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules ISS --
GO:0010631 epithelial cell migration IMP 17900869
GO:0031589 cell-substrate adhesion IDA 29053796
GO:0098609 cell-cell adhesion IBA 21873635
genes like me logo Genes that share ontologies with FAT2: view

No data available for Pathways by source and SIGNOR curated interactions for FAT2 Gene

Drugs & Compounds for FAT2 Gene

No Compound Related Data Available

Transcripts for FAT2 Gene

mRNA/cDNA for FAT2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(66) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAT2

Alternative Splicing Database (ASD) splice patterns (SP) for FAT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23
SP1:
SP2: -

Relevant External Links for FAT2 Gene

GeneLoc Exon Structure for
FAT2
ECgene alternative splicing isoforms for
FAT2

Expression for FAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAT2 Gene

This gene is overexpressed in Brain - Cerebellum (x17.9), Brain - Cerebellar Hemisphere (x15.9), and Esophagus - Mucosa (x4.8).

Protein differential expression in normal tissues from HIPED for FAT2 Gene

This gene is overexpressed in Plasma (42.3) and Serum (25.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAT2 Gene



Protein tissue co-expression partners for FAT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FAT2 Gene:

FAT2

SOURCE GeneReport for Unigene cluster for FAT2 Gene:

Hs.591255

mRNA Expression by UniProt/SwissProt for FAT2 Gene:

Q9NYQ8-FAT2_HUMAN
Tissue specificity: Expressed in epidermal keratinocytes, infant brain, cerebellum, and also in a variety of tumors, such as pancreatic cancer, diffuse type gastric cancer, ovarian cancer, esophageal cancer, skin squamous cell carcinoma, head and neck cancer. Not expressed in melanoma cell line A375 cells, normal epidermal melanocytes or normal dermal fibroblasts. Expressed in epidermal keratinocytes and squamous cell carcinoma (at protein level).

Evidence on tissue expression from TISSUES for FAT2 Gene

  • Nervous system(4.6)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with FAT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAT2 Gene

Orthologs for FAT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAT2 33 32
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAT2 33 32
  • 88.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAT2 33 32
  • 87.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fat2 17 33 32
  • 82.32 (n)
rat
(Rattus norvegicus)
Mammalia Fat2 32
  • 82.2 (n)
oppossum
(Monodelphis domestica)
Mammalia FAT2 33
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAT2 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAT2 33 32
  • 66.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAT2 33
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fat2 32
  • 60.11 (n)
zebrafish
(Danio rerio)
Actinopterygii fat2 33 32
  • 54.54 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kug 33
  • 30 (a)
OneToMany
CadN 34
  • 26 (a)
ft 34
  • 25 (a)
Species where no ortholog for FAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAT2 Gene

ENSEMBL:
Gene Tree for FAT2 (if available)
TreeFam:
Gene Tree for FAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAT2: view image

Paralogs for FAT2 Gene

Paralogs for FAT2 Gene

(10) SIMAP similar genes for FAT2 Gene using alignment to 4 proteins:

  • FAT2_HUMAN
  • H0YBK2_HUMAN
  • L8E7M5_HUMAN
  • Q6PIA2_HUMAN
genes like me logo Genes that share paralogs with FAT2: view

Variants for FAT2 Gene

Sequence variations from dbSNP and Humsavar for FAT2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs138209662 uncertain-significance, Abnormality of neuronal migration 151,568,002(-) A/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs201335279 uncertain-significance, SPINOCEREBELLAR ATAXIA 45, Spinocerebellar ataxia 45 (SCA45) [MIM:617769] 151,521,647(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs770597316 uncertain-significance, SPINOCEREBELLAR ATAXIA 45, Spinocerebellar ataxia 45 (SCA45) [MIM:617769] 151,521,835(-) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs863223397 uncertain-significance, Abnormality of neuronal migration 151,566,159(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000074856 -- 151,580,737(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAT2 Gene

Variant ID Type Subtype PubMed ID
esv24295 CNV gain 19812545
esv3890753 CNV gain 25118596
nsv527096 CNV loss 19592680

Variation tolerance for FAT2 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 28.44; 99.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAT2 Gene

Human Gene Mutation Database (HGMD)
FAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAT2 Gene

Disorders for FAT2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FAT2 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search FAT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FAT2_HUMAN
  • Spinocerebellar ataxia 45 (SCA45) [MIM:617769]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood. {ECO:0000269 PubMed:29053796}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FAT2

genes like me logo Genes that share disorders with FAT2: view

No data available for Genatlas for FAT2 Gene

Publications for FAT2 Gene

  1. Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening. (PMID: 9693030) Nakayama M … Ohara O (Genomics 1998) 2 3 4 56
  2. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. (PMID: 29053796) Nibbeling EAR … Verbeek DS (Brain : a journal of neurology 2017) 3 4 56
  3. Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes. (PMID: 17900869) Matsui S … Matsuyoshi N (Journal of dermatological science 2007) 3 4 56
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 56
  5. Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes. (PMID: 10716726) Wu Q … Maniatis T (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 56

Products for FAT2 Gene

Sources for FAT2 Gene