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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
  • HFAT2 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 Fat 2 3
  • Protocadherin FAT2 3
  • KIAA0811 4
  • CDHR9 3

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 Skin Squamous Cell Carcinoma and Spinal Canal And Spinal Cord Meningioma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT1.

UniProtKB/Swiss-Prot for FAT2 Gene

  • Plays a role in the migration of epidermal cells. May modulate the extracellular space surronding parallel fibers of cerebellar during development (By similarity).

Additional gene information for FAT2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAT2 Gene

Genomics for FAT2 Gene

Regulatory Elements for FAT2 Gene

Enhancers for FAT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H151612 1.5 Ensembl ENCODE dbSUPER 10.7 +35.0 34992 9 HDGF PKNOX1 FOXA2 ATF1 GLIS2 FOS ATF7 RUNX3 KAT8 NFIL3 LOC105378231 ZNF300 ENSG00000253897 SLC36A1 FAT2 ZNF300P1 RPLP1P6 G3BP1 ATOX1 SPARC
GH05H151717 1.3 FANTOM5 Ensembl ENCODE dbSUPER 9.2 -66.8 -66779 2 CTCF REST ZNF2 RAD21 RPLP1P6 SPARC ATOX1 G3BP1 FAT2 LOC105378231 ENSG00000272112 RN7SKP232
GH05H151721 1.3 Ensembl ENCODE dbSUPER 9.2 -69.6 -69561 0 PKNOX1 EBF1 RELA POLR2A EED ZNF143 ATF7 NFE2 RUNX3 IKZF2 SPARC FAT2 LOC105378231 ENSG00000272112 RN7SKP232
GH05H151446 1.1 ENCODE 9.6 +204.1 204123 2 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF300P1 ZNF300 SLC36A2 G3BP1 FAT2 SLC36A1 ENSG00000271795 LOC105378234 RNA5SP197 GC05M151478
GH05H151450 1.1 Ensembl ENCODE 9.6 +200.4 200435 2 BMI1 BATF EGR1 FOS ETV6 RUNX3 CREM IKZF2 JUNB SSRP1 SLC36A2 SLC36A1 FAT2 ENSG00000271795 SPARC LOC105378234 RNA5SP197 GC05M151478
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAT2 Gene

Chromosome:
5
Start:
151,504,092 bp from pter
End:
151,652,140 bp from pter
Size:
148,049 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 isoforms=39, posLast=210210, isoforms=280, posLast=330330, posLast=459459, isoforms=568, isoforms=627, posLast=655655, posLast=789789, posLast=996996, posLast=11751175, isoforms=1383, isoforms=1417, isoforms=1904, posLast=19981998, posLast=20072007, isoforms=2165, isoforms=2183, isoforms=2325, posLast=23682368, isoforms=2387, isoforms=2430, posLast=24702470, isoforms=2547, posLast=25972597, isoforms=2654, posLast=31253125, posLast=32763276, posLast=33103310, posLast=34303430, posLast=34713471, isoforms=3601, posLast=37723772, posLast=38133813, isoforms=3840, isoforms=3873, posLast=39043904, posLast=39893989, and isoforms=4036
  • Modification sites at PhosphoSitePlus

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for FAT2 Gene

Function for FAT2 Gene

Molecular function for FAT2 Gene

GENATLAS Biochemistry:
Drosophila FAT tumor suppressor,homolog 2
UniProtKB/Swiss-Prot Function:
Plays a role in the migration of epidermal cells. May modulate the extracellular space surronding parallel fibers of cerebellar during development (By similarity).

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

Animal Models for FAT2 Gene

MGI Knock Outs for FAT2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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. Nucleus. Note=Localized at adhesion zippers (early state of adherens junctions) of keratinocytes.

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
extracellular 5
plasma membrane 4
nucleus 3
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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

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
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

Unigene Clusters for FAT2 Gene

FAT tumor suppressor homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 34 33
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAT2 33 34
  • 88.27 (n)
cow
(Bos Taurus)
Mammalia FAT2 33 34
  • 87.41 (n)
mouse
(Mus musculus)
Mammalia Fat2 33 16 34
  • 82.32 (n)
rat
(Rattus norvegicus)
Mammalia Fat2 33
  • 82.2 (n)
oppossum
(Monodelphis domestica)
Mammalia FAT2 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAT2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAT2 33 34
  • 66.29 (n)
lizard
(Anolis carolinensis)
Reptilia FAT2 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fat2 33
  • 60.11 (n)
zebrafish
(Danio rerio)
Actinopterygii fat2 33 34
  • 54.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta kug 34
  • 30 (a)
OneToMany
CadN 35
  • 26 (a)
ft 35
  • 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)

Paralogs for FAT2 Gene

Paralogs for FAT2 Gene

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

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 Sequence Context AA Info Type
rs138209662 Uncertain significance 151,568,002(+) AACTC(A/G)TTGCT nc-transcript-variant, reference, synonymous-codon
rs863223397 Uncertain significance 151,566,159(-) CCCAG(C/T)GCATC nc-transcript-variant, reference, missense
rs1000074856 -- 151,580,737(+) GGGTG(A/G)GTGTG intron-variant
rs1000141941 -- 151,553,873(+) AGTGT(C/G)GTCGA intron-variant
rs1000190201 -- 151,557,066(+) CACCA(C/G)GAGCA 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)

Relevant External Links for FAT2 Gene

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

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

Disorders for FAT2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FAT2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
skin squamous cell carcinoma
  • epidermoid skin carcinoma
spinal canal and spinal cord meningioma
spinal meningioma
  • meningioma
spinal cancer
  • spinal cord cancer
- elite association - COSMIC cancer census association via MalaCards
Search FAT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FAT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAT2
genes like me logo Genes that share disorders with FAT2: view

No data available for UniProtKB/Swiss-Prot and 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 60
  2. Human Fat2 is localized at immature adherens junctions in epidermal keratinocytes. (PMID: 17900869) Matsui S … Matsuyoshi N (Journal of dermatological science 2007) 3 4 60
  3. 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 60
  4. 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 60
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 60

Products for FAT2 Gene

Sources for FAT2 Gene

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