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Aliases for FAT4 Gene

Aliases for FAT4 Gene

  • FAT Atypical Cadherin 4 2 3
  • Cadherin-Related Family Member 11 2 3
  • Fat-Like Cadherin Protein FAT-J 3 4
  • FAT Tumor Suppressor Homolog 4 3 4
  • Cadherin Family Member 14 3 4
  • VMLDS2 3 6
  • CDHF14 3 4
  • FATJ 3 4
  • FAT Tumor Suppressor Homolog 4 (Drosophila) 2
  • Putative Protein Product Of Nbla00548 3
  • Protocadherin Fat 4 3
  • NBLA00548 3
  • CDHR11 3
  • HKLLS2 3
  • FAT-J 3
  • HFat4 4

External Ids for FAT4 Gene

Previous GeneCards Identifiers for FAT4 Gene

  • GC00U912751
  • GC04P126673
  • GC04P126534
  • GC04P126457
  • GC04P126237
  • GC04P121965

Summaries for FAT4 Gene

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 hennekam lymphangiectasia-lymphedema syndrome 2. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot for FAT4 Gene

  • Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).

Gene Wiki entry for FAT4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAT4 Gene

Genomics for FAT4 Gene

Regulatory Elements for FAT4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FAT4 Gene

Start:
125,315,849 bp from pter
End:
125,492,932 bp from pter
Size:
177,084 bases
Orientation:
Plus strand

Genomic View for FAT4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAT4 Gene

Proteins for FAT4 Gene

  • Protein details for FAT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6V0I7-FAT4_HUMAN
    Recommended name:
    Protocadherin Fat 4
    Protein Accession:
    Q6V0I7
    Secondary Accessions:
    • A8K5Z6
    • B5MDG4
    • Q3LIA6
    • Q8TCK7
    • Q9H5T6

    Protein attributes for FAT4 Gene

    Size:
    4981 amino acids
    Molecular mass:
    542687 Da
    Quaternary structure:
    • Heterophilic interaction with DCHS1; this interaction affects their respective protein levels. Interacts (via cytoplasmic domain) with MPDZ. Forms a complex with MPP5 and MPDZ.
    SequenceCaution:
    • Sequence=BAB15534.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15534.1; Type=Frameshift; Positions=4848; Evidence={ECO:0000305}; Sequence=BAF84150.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAT4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAT4 Gene

Proteomics data for FAT4 Gene at MOPED

Post-translational modifications for FAT4 Gene

  • Glycosylation at Asn84, Asn237, Asn393, Asn416, Asn435, Asn483, Asn551, Asn615, Asn676, Asn721, Asn825, Asn880, Asn946, Asn1085, Asn1101, Asn1104, Asn1225, Asn1296, Asn1389, Asn1514, Asn1828, Asn1899, Asn1967, Asn2119, Asn2387, Asn2430, Asn2921, Asn2937, Asn3036, Asn3140, Asn3217, Asn3392, Asn3477, Asn3706, Asn3758, Asn4017, Asn4267, and Asn4312
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT4 Gene

No data available for DME Specific Peptides for FAT4 Gene

Domains for FAT4 Gene

Gene Families for FAT4 Gene

HGNC:
  • CDHR :Cadherins / Cadherin-related

Suggested Antigen Peptide Sequences for FAT4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6V0I7

UniProtKB/Swiss-Prot:

FAT4_HUMAN :
  • Q6V0I7
Domain:
  • Contains 34 cadherin domains.
  • Contains 6 EGF-like domains.
  • Contains 2 laminin G-like domains.
genes like me logo Genes that share domains with FAT4: view

Function for FAT4 Gene

Molecular function for FAT4 Gene

UniProtKB/Swiss-Prot Function: Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity).

Gene Ontology (GO) - Molecular Function for FAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 22153077
genes like me logo Genes that share ontologies with FAT4: view
genes like me logo Genes that share phenotypes with FAT4: view

Animal Models for FAT4 Gene

MGI Knock Outs for FAT4:

Animal Model Products

CRISPR Products

miRNA for FAT4 Gene

miRTarBase miRNAs that target FAT4

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAT4

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FAT4 Gene

Localization for FAT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAT4 Gene

Membrane; Single-pass type I membrane protein. Note=In the kidney, localizes to primary cilia. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAT4 Gene COMPARTMENTS Subcellular localization image for FAT4 gene
Compartment Confidence
plasma membrane 3
cytosol 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FAT4: view

Pathways for FAT4 Gene

SuperPathways for FAT4 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for FAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001822 kidney development --
GO:0003007 heart morphogenesis IEA --
GO:0007009 plasma membrane organization IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with FAT4: view

No data available for Pathways by source for FAT4 Gene

Transcripts for FAT4 Gene

Unigene Clusters for FAT4 Gene

FAT tumor suppressor homolog 4 (Drosophila):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAT4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FAT4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAT4 Gene

No ASD Table

Relevant External Links for FAT4 Gene

GeneLoc Exon Structure for
FAT4
ECgene alternative splicing isoforms for
FAT4

Expression for FAT4 Gene

mRNA expression in normal human tissues for FAT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for FAT4 Gene

SOURCE GeneReport for Unigene cluster for FAT4 Gene Hs.563205

mRNA Expression by UniProt/SwissProt for FAT4 Gene

Q6V0I7-FAT4_HUMAN
Tissue specificity: Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer.
genes like me logo Genes that share expressions with FAT4: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FAT4 Gene

Orthologs for FAT4 Gene

This gene was present in the common ancestor of animals.

Orthologs for FAT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAT4 35
  • 99.44 (n)
  • 99.52 (a)
FAT4 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAT4 35
  • 90.52 (n)
  • 95.52 (a)
FAT4 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAT4 35
  • 91.29 (n)
  • 95.74 (a)
FAT4 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fat4 35
  • 83.41 (n)
  • 91.42 (a)
Fat4 16
Fat4 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAT4 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAT4 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAT4 35
  • 76.49 (n)
  • 83.32 (a)
FAT4 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAT4 36
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.26275 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fat4 35
  • 71.54 (n)
  • 76.89 (a)
zebrafish
(Danio rerio)
Actinopterygii FAT4 36
  • 69 (a)
OneToOne
LOC101882648 35
  • 66.68 (n)
  • 71.22 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007924 35
  • 34.19 (n)
  • 21.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta ft 35
  • 46.23 (n)
  • 39.18 (a)
ft 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cdh-4 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToOne
Species with no ortholog for FAT4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)

Evolution for FAT4 Gene

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

Paralogs for FAT4 Gene

Paralogs for FAT4 Gene

Selected SIMAP similar genes for FAT4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FAT4: view

Variants for FAT4 Gene

Sequence variations from dbSNP and Humsavar for FAT4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs885271 -- 125,387,936(-) AATTT(C/T)TGTAG intron-variant
rs885272 -- 125,387,090(+) AGTAA(C/T)GCTCA intron-variant
rs906793 -- 125,387,945(-) ATAAA(A/C)GTGAA intron-variant
rs906794 -- 125,387,256(-) CTATT(A/C)TTTGA intron-variant
rs925241 -- 125,419,841(-) aagca(C/T)ttact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAT4 Gene

Variant ID Type Subtype PubMed ID
nsv830051 CNV Loss 17160897
nsv470070 CNV Loss 18288195

Relevant External Links for FAT4 Gene

HapMap Linkage Disequilibrium report
FAT4
Human Gene Mutation Database (HGMD)
FAT4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAT4 Gene

Disorders for FAT4 Gene

(1) OMIM Diseases for FAT4 Gene (612411)

UniProtKB/Swiss-Prot

FAT4_HUMAN
  • Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. {ECO:0000269 PubMed:24056717}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]: A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. {ECO:0000269 PubMed:24913602}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAT4

Genetic Association Database (GAD)
FAT4
Human Genome Epidemiology (HuGE) Navigator
FAT4
genes like me logo Genes that share disorders with FAT4: view

Publications for FAT4 Gene

  1. Identification of new human cadherin genes using a combination of protein motif search and gene finding methods. (PMID: 15003449) Hoeng J.C. … Liu Y. (J. Mol. Biol. 2004) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Comparative integromics on FAT1, FAT2, FAT3 and FAT4. (PMID: 16865240) Katoh Y. … Katoh M. (Int. J. Mol. Med. 2006) 3 4
  4. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. (PMID: 24056717) Cappello S. … Robertson S.P. (Nat. Genet. 2013) 3 4
  5. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PMID: 19734545) Need A.C. … Goldstein D.B. (Hum. Mol. Genet. 2009) 3 48

Products for FAT4 Gene

Sources for FAT4 Gene

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