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FAT4 Gene

protein-coding   GIFtS: 53
GCID: GC04P126237

FAT Atypical Cadherin 4

(Previous name: FAT tumor suppressor homolog 4 (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
FAT Atypical Cadherin 41 2     FAT Tumor Suppressor Homolog 4 (Drosophila)1
Cadherin-Related Family Member 111 2     CDHR112
Cadherin Family Member 142 3     FAT-J2
Fat-Like Cadherin Protein FAT-J2 3     NBLA005482
CDHF142 3     Protocadherin Fat 42
FATJ2 3     Putative Protein Product Of Nbla005482
FAT Tumor Suppressor Homolog 42 3     hFat43
VMLDS22 5     

External Ids:    HGNC: 231091   Entrez Gene: 796332   Ensembl: ENSG000001961597   OMIM: 6124115   UniProtKB: Q6V0I73   

Export aliases for FAT4 gene to outside databases

Previous GC identifers: GC00U912751 GC04P126673 GC04P126534 GC04P126457 GC04P121965


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FAT4 Gene:
The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating
planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease,
and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript
variants have been noted for this gene. (provided by RefSeq, Mar 2014)

GeneCards Summary for FAT4 Gene:
FAT4 (FAT atypical cadherin 4) is a protein-coding gene. Diseases associated with FAT4 include van maldergem syndrome 2, and van maldergem syndrome 1. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: FAT4_HUMAN, Q6V0I7
Function: May function in the regulation of planar cell polarity (By similarity). Cadherins are cell-cell
interaction molecules (By similarity)

Gene Wiki entry for FAT4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAT4 gene promoter:
         HOXA9   HOXA9B   HTF   Egr-1   MyoD   Meis-1b   Gfi-1   YY1   HFH-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FAT4 promoter sequence
   Search Chromatin IP Primers for FAT4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAT4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q28.1   Ensembl cytogenetic band:  4q28.1   HGNC cytogenetic band: 4q28.1

FAT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAT4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P126237:  view genomic region     (about GC identifiers)

Start:
126,237,554 bp from pter      End:
126,414,087 bp from pter
Size:
176,534 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FAT4_HUMAN, Q6V0I7 (See protein sequence)
Recommended Name: Protocadherin Fat 4 precursor  
Size: 4981 amino acids; 542687 Da
Sequence caution: Sequence=BAB15534.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB15534.1; Type=Frameshift; Positions=4848; Sequence=BAF84150.1; Type=Erroneous initiation;
Secondary accessions: A8K5Z6 B5MDG4 Q3LIA6 Q8TCK7 Q9H5T6
Alternative splicing: 3 isoforms:  Q6V0I7-1   Q6V0I7-2   Q6V0I7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAT4: NX_Q6V0I7

Explore proteomics data for FAT4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn84, Asn237, Asn393, Asn416, Asn435, Asn483, Asn551, Asn615, Asn676, Asn721,
                                 Asn825, Asn880, Asn946, Asn1085, Asn1101, Asn1104, Asn1225, Asn1296, Asn1389, Asn1514 (see all 38)
  • Modification sites at PhosphoSitePlus

  • See FAT4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001278214.1  NP_001278232.1  NP_078858.4  

    ENSEMBL proteins: 
     ENSP00000377862   ENSP00000335169  

    FAT4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for FAT4

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    Abcam antibodies for FAT4
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    Search ThermoFisher Antibodies for FAT4
    LSBio Antibodies in human, mouse, rat for FAT4

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    Cloud-Clone Corp. CLIAs for FAT4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CDHR: Cadherins / Cadherin-related

    Selected InterPro protein domains (see all 12):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR015919 Cadherin-like
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site

    Graphical View of Domain Structure for InterPro Entry Q6V0I7

    ProtoNet protein and cluster: Q6V0I7

    3 Blocks protein domains:
    IPB001791 Laminin G
    IPB002126 Cadherin
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: FAT4_HUMAN, Q6V0I7
    Similarity: Contains 34 cadherin domains
    Similarity: Contains 6 EGF-like domains
    Similarity: Contains 2 laminin G-like domains


    FAT4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FAT4_HUMAN, Q6V0I7
    Function: May function in the regulation of planar cell polarity (By similarity). Cadherins are cell-cell
    interaction molecules (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    FAT4 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fat4):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  growth/size/body 
     hearing/vestibular/ear  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
     renal/urinary system  respiratory system  skeleton 

    FAT4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FAT4: Fat4tm1.1Hmc Fat4tm2Hmc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAT4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FAT4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FAT4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FAT4

    miRNA
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    miRTarBase miRNAs that target FAT4:
    hsa-mir-132-3p (MIRT021819)

    Block miRNA regulation of human, mouse, rat FAT4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAT4 (see all 71):
    hsa-miR-548j hsa-miR-520e hsa-miR-193a-3p hsa-miR-106a hsa-miR-15a hsa-miR-3074-3p hsa-miR-93 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FAT4
    Predesigned siRNA for gene silencing in human, mouse, rat FAT4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FAT4

    Clone
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    OriGene clones in human, mouse for FAT4 (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAT4 (NM_024582)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAT4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAT4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for FAT4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAT4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FAT4_HUMAN, Q6V0I7: Membrane; Single-pass type I membrane protein (Potential). Note=In the kidney, localizes to
    primary cilia (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol2
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    FAT4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including FAT4: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FAT4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FAT4 (Q6V0I71, 2, 3 ENSP000003778624) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2876323 I2D: score=3 STRING: ENSP00000244769
    LIX1LQ8IVB53, ENSP000003583144I2D: score=5 STRING: ENSP00000358314
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    DCHS1Q96JQ03, ENSP000002994414I2D: score=1 STRING: ENSP00000299441
    FZD1Q9UP383, ENSP000002879344I2D: score=1 STRING: ENSP00000287934
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007156homophilic cell adhesion IEA--

    FAT4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAT4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for FAT4 gene (3 alternative transcripts): 
    NM_001291285.1  NM_001291303.1  NM_024582.4  

    Unigene Cluster for FAT4:

    FAT tumor suppressor homolog 4 (Drosophila)
    Hs.563205  [show with all ESTs]
    Unigene Representative Sequence: NM_024582
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394329(uc003ifj.4 uc011cgp.2 uc003ifi.1) ENST00000335110
    ENST00000509444
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FAT4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAT4 (see all 71):
    hsa-miR-548j hsa-miR-520e hsa-miR-193a-3p hsa-miR-106a hsa-miR-15a hsa-miR-3074-3p hsa-miR-93 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAT4
    Clone
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    OriGene clones in human, mouse for FAT4 (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAT4 (NM_024582)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAT4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAT4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for FAT4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAT4
      QuantiTect SYBR Green Assays in human, mouse, rat FAT4
      QuantiFast Probe-based Assays in human, mouse, rat FAT4

    Additional mRNA sequence: 

    AB075518.1 AK026709.1 AK091292.1 AK096646.1 AK291461.1 AL713715.1 AY356402.1 

    5 DOTS entries:

    DT.310598  DT.40110237  DT.100742156  DT.40289033  DT.306365 

    Selected AceView cDNA sequences (see all 60):

    AY356402 AW955781 CR610468 AK096646 AI500084 NM_024582 AA334944 Z40669 
    AI041710 AK091292 N63047 BM972157 N45570 BX091798 BM972604 CA413337 
    BV202130 BM681989 F07623 CB129890 AI559896 BQ024196 BX505484 AI808424 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FAT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCCCCAG
    FAT4 Expression
    About this image


    FAT4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     NULL (Uncategorized)
             Neural rosettes
     
     Neural Tube (Nervous System)
             Spinal Dorsal Columns
    FAT4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAT4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.563205

    UniProtKB/Swiss-Prot: FAT4_HUMAN, Q6V0I7
    Tissue specificity: Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FAT4: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for FAT4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAT4
    QuantiTect SYBR Green Assays in human, mouse, rat FAT4
    QuantiFast Probe-based Assays in human, mouse, rat FAT4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAT4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FAT4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fat41 , 5 FAT tumor suppressor homolog 4 (Drosophila)1, 5 83.41(n)1
    91.42(a)1
      3 (18.72 cM)5
    3296281  NM_183221.31  NP_899044.31 
     388869405 
    chicken
    (Gallus gallus)
    Aves FAT41 FAT tumor suppressor homolog 4 (Drosophila) 76.49(n)
    83.32(a)
      395166  XM_420617.4  XP_420617.4 
    lizard
    (Anolis carolinensis)
    Reptilia FAT46
    FAT atypical cadherin 4
    79(a)
    1 ↔ 1
    5(137392248-137552330)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.262752 Xenopus laevis transcribed sequences 87.66(n)    BJ082657.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018826481 protocadherin Fat 4-like 66.68(n)
    71.22(a)
      101882648  XM_005173053.1  XP_005173110.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ft1 fat 46.23(n)
    39.18(a)
      33627  NM_058149.4  NP_477497.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cdh-46
    Protein CDH-4, isoform a
    22(a)
    1 ↔ 1
    III(4520365-4536989) WBGene00000396


    ENSEMBL Gene Tree for FAT4 (if available)
    TreeFam Gene Tree for FAT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAT4 gene
    DCHS12  DCHS22  CELSR32  CELSR12  FAT22  PCDH152  FAT32  CELSR22  
    FAT12  
    17 SIMAP similar genes for FAT4 using alignment to 1 protein entry:     FAT4_HUMAN:
    F9    ME5    FAT3    ME4    ME2    CDH22
    ME6    Nbla04261    FLJ00233    DKFZp434P2350    ME1    CDH23
    DKFZp586I1919    NOTCH2NL    ME3    PCDHGA3    PCDHGA6

    FAT4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FAT4 (see all 3737)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs607303411,2
    C--122121388(+) AAAAA-/A/AAA 
            
    TTAGC
    1 -- int11NA 2
    rs58617271,2
    C--126190334(+) TTCCG-/TT/TT 
     T
    /TTTTT
    TTTTT
    2 -- int1 cds11NA 2
    rs1510690711,2
    --126235637(+) TTCCTC/TCCCGC 1 -- us2k10--------
    rs1409724791,2
    C--126235642(+) CCCCGC/TTTTAA 1 -- us2k10--------
    rs359799711,2
    F--126235848(+) AAAGGA/-AAAAA 1 -- us2k12Minor allele frequency- -:0.50NA CSA 4
    rs1449026481,2
    C--126235871(+) AAAAG-/AAAAAA 1 -- us2k10--------
    rs2016055661,2
    --126235877(+) AAAAA-/GAATCA 1 -- us2k10--------
    rs1843618771,2
    --126236025(+) CGGTCC/GGGGCT 1 -- us2k10--------
    rs1897747351,2
    --126236138(+) AGTGTC/GGAGCA 1 -- us2k10--------
    rs726732761,2
    C,F--126236140(+) TGTCGA/GGCAAA 1 -- us2k12Minor allele frequency- G:0.07NA EA 240

    HapMap Linkage Disequilibrium report for FAT4 (126237554 - 126414087 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FAT4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830051CNV Loss17160897
    nsv470070CNV Loss18288195

    Human Gene Mutation Database (HGMD): FAT4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAT4
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612411   
    OMIM disorders: 615546  
    20 diseases for FAT4:    
    About MalaCards
    van maldergem syndrome 2    van maldergem syndrome 1    urethral stricture    lung adenoma
    cherubism    urethritis    major depressive disorder    gastric adenocarcinoma
    esophageal cancer    adenoma    bipolar disorder    neuroblastoma
    atherosclerosis    ataxia    esophagitis    adenocarcinoma
    colorectal cancer    breast cancer    malaria    endotheliitis


    FAT4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAT4
    Human Genome Epidemiology (HuGE) Navigator: FAT4 (2 documents)

    Export disorders for FAT4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FAT4 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with FAT4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of new human cadherin genes using a combination of protein motif search and gene finding methods. (PubMed id 15003449)1, 2, 3, 9 Hoeng J.C.... Liu Y. (J. Mol. Biol. 2004)
    2. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. (PubMed id 20351715)1, 4 Liu Y....Sullivan P.F. (Mol. Psychiatry 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    5. Comparative integromics on FAT1, FAT2, FAT3 and FAT4. (PubMed id 16865240)1, 2 Katoh Y. and Katoh M. (Int. J. Mol. Med. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Nonsynonymous polymorphisms in FAT4 gene are associated with the risk of esophageal cancer in an Eastern Chinese population. (PubMed id 23319386)1 Du J....Shen H. (Int. J. Cancer 2013)
    8. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. (PubMed id 24056717)1 Cappello S....Robertson S.P. (Nat. Genet. 2013)
    9. Stromal-epithelial crosstalk regulates kidney progenitor cell differentiation. (PubMed id 23974041)1 Das A....Carroll T.J. (Nat. Cell Biol. 2013)
    10. Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes. (PubMed id 22484628)1 Zang Z.J....Tan P. (Nat. Genet. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79633 HGNC: 23109 AceView: FATJ Ensembl:ENSG00000196159 euGenes: HUgn79633
    ECgene: FAT4 H-InvDB: FAT4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FAT4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FAT4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAT4 gene:
    Search GeneIP for patents involving FAT4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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