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Aliases for FAT3 Gene

Aliases for FAT3 Gene

  • FAT Atypical Cadherin 3 2 3 5
  • Cadherin-Related Family Member 10 2 3
  • FAT Tumor Suppressor Homolog 3 3 4
  • Cadherin Family Member 15 3 4
  • CDHF15 3 4
  • HFat3 3 4
  • FAT Tumor Suppressor Homolog 3 (Drosophila) 2
  • Protocadherin Fat 3 3
  • KIAA1989 4
  • CDHR10 3

External Ids for FAT3 Gene

Previous GeneCards Identifiers for FAT3 Gene

  • GC11P094904
  • GC11P094081
  • GC11P092758
  • GC11P092048
  • GC11P091942
  • GC11P092164
  • GC11P091723
  • GC11P088175

Summaries for FAT3 Gene

GeneCards Summary for FAT3 Gene

FAT3 (FAT Atypical Cadherin 3) is a Protein Coding gene. Diseases associated with FAT3 include Hirschsprung Disease 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT1.

UniProtKB/Swiss-Prot for FAT3 Gene

  • May play a role in the interactions between neurites derived from specific subsets of neurons during development.

Additional gene information for FAT3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAT3 Gene

Genomics for FAT3 Gene

GeneHancer (GH) Regulatory Elements for FAT3 Gene

Promoters and enhancers for FAT3 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
GH11J092224 Enhancer 1.3 FANTOM5 Ensembl ENCODE 7.5 -88.4 -88357 3.5 INSM2 SIN3A FEZF1 ZNF2 ZNF335 GLIS2 ZNF366 EGR2 SP3 YY2 FAT3 GC11P092236 GC11M093957
GH11J092376 Enhancer 0.7 ENCODE 12.1 +62.3 62260 1 PKNOX1 MZF1 FEZF1 ZIC2 HIC1 PRDM10 FOS ZNF600 MAFK ZNF189 FAT3 PGAM1P9 ENSG00000254705
GH11J092266 Enhancer 1.1 FANTOM5 Ensembl ENCODE 5.1 -46.1 -46100 3.6 ZNF768 RXRA MAX ELF1 RAD21 YY1 NR2F2 SP1 JUND GATA3 FAT3 GC11P092236 GC11M093932
GH11J092130 Enhancer 0.5 ENCODE 10.5 -183.2 -183184 2.1 SP1 JUND FOSL2 ATF2 MAFK GC11M093930 FAT3 GC11M093925
GH11J091981 Enhancer 0.7 Ensembl ENCODE 4.3 -332.2 -332192 1.9 SP1 JUND GATA3 ESR1 FOSL2 MAFK FAT3 ENSG00000278859 TUBB4BP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAT3 gene promoter:
  • E2F
  • RP58
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • S8
  • Nkx2-5
  • Gfi-1

Genomic Locations for FAT3 Gene

Genomic Locations for FAT3 Gene
chr11:92,314,283-92,896,470
(GRCh38/hg38)
Size:
582,188 bases
Orientation:
Plus strand
chr11:92,085,262-92,629,636
(GRCh37/hg19)
Size:
544,375 bases
Orientation:
Plus strand

Genomic View for FAT3 Gene

Genes around FAT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAT3 Gene

Proteins for FAT3 Gene

  • Protein details for FAT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDW7-FAT3_HUMAN
    Recommended name:
    Protocadherin Fat 3
    Protein Accession:
    Q8TDW7
    Secondary Accessions:
    • B5MDB0
    • Q96AU6

    Protein attributes for FAT3 Gene

    Size:
    4589 amino acids
    Molecular mass:
    505523 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16722.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAT3 Gene

Post-translational modifications for FAT3 Gene

  • Glycosylation at Asn3927, Asn3742, isoforms=33619, Asn3450, Asn3330, Asn3202, Asn3001, Asn2468, isoforms=32332, Asn2293, Asn2209, isoforms=31997, Asn1994, isoforms=31945, isoforms=31752, Asn1430, isoforms=31368, Asn1007, isoforms=2, 3899, isoforms=2, 3880, Asn800, isoforms=2, 3668, Asn563, isoforms=2, 3482, isoforms=2, 3342, and Asn49
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FAT3 Gene

Domains & Families for FAT3 Gene

Gene Families for FAT3 Gene

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

Suggested Antigen Peptide Sequences for FAT3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FAT3: view

No data available for UniProtKB/Swiss-Prot for FAT3 Gene

Function for FAT3 Gene

Molecular function for FAT3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the interactions between neurites derived from specific subsets of neurons during development.

Phenotypes From GWAS Catalog for FAT3 Gene

Gene Ontology (GO) - Molecular Function for FAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with FAT3: view
genes like me logo Genes that share phenotypes with FAT3: view

Animal Models for FAT3 Gene

MGI Knock Outs for FAT3:
  • Fat3 Fat3<tm1.2Good>

Animal Model Products

  • Taconic Biosciences Mouse Models for FAT3

miRNA for FAT3 Gene

miRTarBase miRNAs that target FAT3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAT3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAT3 Gene

Localization for FAT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAT3 Gene

Membrane; Single-pass type I membrane protein.

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 FAT3 gene
Compartment Confidence
plasma membrane 4
nucleus 2
cytosol 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAT3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAT3 Gene

Pathways & Interactions for FAT3 Gene

No Data Available

Interacting Proteins for FAT3 Gene

Gene Ontology (GO) - Biological Process for FAT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with FAT3: view

No data available for Pathways by source and SIGNOR curated interactions for FAT3 Gene

Drugs & Compounds for FAT3 Gene

No Compound Related Data Available

Transcripts for FAT3 Gene

Unigene Clusters for FAT3 Gene

FAT tumor suppressor homolog 3 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAT3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAT3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - -
SP2:
SP3:

Relevant External Links for FAT3 Gene

GeneLoc Exon Structure for
FAT3
ECgene alternative splicing isoforms for
FAT3

Expression for FAT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAT3 Gene

mRNA differential expression in normal tissues according to GTEx for FAT3 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x7.4), Brain - Caudate (basal ganglia) (x5.2), and Brain - Putamen (basal ganglia) (x4.5).

Protein differential expression in normal tissues from HIPED for FAT3 Gene

This gene is overexpressed in Plasma (55.7) and Fetal Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAT3 Gene



NURSA nuclear receptor signaling pathways regulating expression of FAT3 Gene:

FAT3

SOURCE GeneReport for Unigene cluster for FAT3 Gene:

Hs.98523

mRNA Expression by UniProt/SwissProt for FAT3 Gene:

Q8TDW7-FAT3_HUMAN
Tissue specificity: Expressed in ES cells, primitive neuroectoderm, fetal brain, infant brain, adult neural tissues and prostate.

Evidence on tissue expression from TISSUES for FAT3 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with FAT3: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAT3 Gene

Orthologs for FAT3 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAT3 34 33
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAT3 34 33
  • 91.29 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAT3 34
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAT3 34 33
  • 88.82 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fat3 33
  • 87.11 (n)
mouse
(Mus musculus)
Mammalia Fat3 16 34 33
  • 87.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAT3 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAT3 34 33
  • 78.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAT3 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fat3 33
  • 72.66 (n)
Str.5146 33
zebrafish
(Danio rerio)
Actinopterygii fat3a 34
  • 63 (a)
OneToOne
LOC568600 33
  • 61.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta kug 34
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for FAT3 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 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 FAT3 Gene

ENSEMBL:
Gene Tree for FAT3 (if available)
TreeFam:
Gene Tree for FAT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAT3: view image

Paralogs for FAT3 Gene

Paralogs for FAT3 Gene

genes like me logo Genes that share paralogs with FAT3: view

Variants for FAT3 Gene

Sequence variations from dbSNP and Humsavar for FAT3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs863223333 uncertain-significance, Hirschsprung disease 1 92,799,929(+) G/A coding_sequence_variant, missense_variant
rs1000005156 -- 92,787,727(+) T/C intron_variant
rs1000007873 -- 92,283,883(+) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000009830 -- 92,415,532(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000015124 -- 92,286,356(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAT3 Gene

Variant ID Type Subtype PubMed ID
nsv975219 CNV duplication 23825009
nsv972061 CNV duplication 23825009
nsv957181 CNV deletion 24416366
nsv832231 CNV gain 17160897
nsv832230 CNV gain 17160897
nsv521791 CNV loss 19592680
nsv509437 CNV insertion 20534489
nsv480908 CNV novel sequence insertion 20440878
nsv480869 CNV novel sequence insertion 20440878
nsv480389 CNV novel sequence insertion 20440878
nsv475441 CNV novel sequence insertion 20440878
nsv475012 CNV novel sequence insertion 20440878
nsv432 CNV insertion 18451855
nsv38845 CNV deletion 16902084
nsv1112494 CNV deletion 24896259
nsv1070478 CNV deletion 25765185
nsv1042423 CNV gain 25217958
esv7974 CNV loss 19470904
esv6436 CNV loss 19470904
esv5400 OTHER complex 18987735
esv3892066 CNV loss 25118596
esv3627279 CNV loss 21293372
esv3627278 CNV loss 21293372
esv3627277 CNV loss 21293372
esv3627275 CNV loss 21293372
esv3627273 CNV loss 21293372
esv3580015 CNV gain 25503493
esv3579850 CNV loss 25503493
esv3548152 CNV deletion 23714750
esv3548151 CNV deletion 23714750
esv3360482 CNV insertion 20981092
esv3346481 CNV duplication 20981092
esv3308636 CNV mobile element insertion 20981092
esv3304726 CNV mobile element insertion 20981092
esv2744910 CNV deletion 23290073
esv2744909 CNV deletion 23290073
esv2744908 CNV deletion 23290073
esv2668744 CNV deletion 23128226
esv2667352 CNV deletion 23128226
esv2663237 CNV deletion 23128226
esv2500510 CNV deletion 19546169
esv2493372 CNV deletion 19546169
esv2148422 CNV deletion 18987734
esv1420122 CNV insertion 17803354
esv1282231 CNV insertion 17803354
esv1228564 CNV insertion 17803354
esv1073574 CNV insertion 17803354
esv1024754 CNV insertion 17803354
esv1007859 CNV insertion 20482838
dgv691n106 CNV deletion 24896259
dgv408e212 CNV loss 25503493

Variation tolerance for FAT3 Gene

Gene Damage Index Score: 8.40; 85.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAT3 Gene

Human Gene Mutation Database (HGMD)
FAT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAT3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAT3 Gene

Disorders for FAT3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAT3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search FAT3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FAT3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAT3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAT3 Gene

Publications for FAT3 Gene

  1. Mammalian fat3: a large protein that contains multiple cadherin and EGF-like motifs. (PMID: 11811999) Mitsui K … Nakayama M (Biochemical and biophysical research communications 2002) 2 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Disparate Regulatory Mechanisms Control Fat3 and P75NTR Protein Transport through a Conserved Kif5-Interaction Domain. (PMID: 27788242) Cheng H … Deans MR (PloS one 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for FAT3 Gene

Sources for FAT3 Gene

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