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Aliases for FAT4 Gene

Aliases for FAT4 Gene

  • FAT Atypical Cadherin 4 2 3 5
  • 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
  • CDHF14 3 4
  • FATJ 3 4
  • FAT Tumor Suppressor Homolog 4 (Drosophila) 2
  • Putative Protein Product Of Nbla00548 3
  • NBLA00548 3
  • CDHR11 3
  • HKLLS2 3
  • VMLDS2 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 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 and Van Maldergem 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

Enhancers for FAT4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAT4 on UCSC Golden Path with GeneCards custom track

Promoters for FAT4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAT4 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAT4 Gene

125,315,897 bp from pter
125,492,932 bp from pter
177,036 bases
Plus strand

Genomic View for FAT4 Gene

Genes around FAT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Protocadherin Fat 4
    Protein Accession:
    Secondary Accessions:
    • A8K5Z6
    • B5MDG4
    • Q3LIA6
    • Q8TCK7
    • Q9H5T6

    Protein attributes for FAT4 Gene

    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.
    • 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


neXtProt entry for FAT4 Gene

Proteomics data for FAT4 Gene at MOPED

Post-translational modifications for FAT4 Gene

  • Glycosylation at Asn 84, Asn 237, Asn 393, Asn 416, Asn 435, Asn 483, Asn 551, Asn 615, Asn 676, Asn 721, Asn 825, Asn 880, Asn 946, Asn 1085, Asn 1101, Asn 1104, Asn 1225, Asn 1296, Asn 1389, Asn 1514, Asn 1828, Asn 1899, Asn 1967, Asn 2119, Asn 2387, Asn 2430, Asn 2921, Asn 2937, Asn 3036, Asn 3140, Asn 3217, Asn 3392, Asn 3477, Asn 3706, Asn 3758, Asn 4017, Asn 4267, and Asn 4312
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT4 Gene

No data available for DME Specific Peptides for FAT4 Gene

Domains & Families for FAT4 Gene

Gene Families for FAT4 Gene

Suggested Antigen Peptide Sequences for FAT4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 34 cadherin domains.
  • 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).
genes like me logo Genes that share phenotypes with FAT4: view

Human Phenotype Ontology for FAT4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAT4 Gene

MGI Knock Outs for FAT4:

Animal Model Products

  • Taconic Biosciences Mouse Models for FAT4

CRISPR Products

miRNA for FAT4 Gene

miRTarBase miRNAs that target FAT4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

Jensen Localization Image for FAT4 Gene COMPARTMENTS Subcellular localization image for FAT4 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 2
endoplasmic reticulum 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:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FAT4: view

Pathways & Interactions for FAT4 Gene

SuperPathways for FAT4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS --
GO:0022008 neurogenesis ISS --
genes like me logo Genes that share ontologies with FAT4: view

No data available for Pathways by source and SIGNOR curated interactions for FAT4 Gene

Drugs & Compounds for FAT4 Gene

No Compound Related Data Available

Transcripts for FAT4 Gene

Unigene Clusters for FAT4 Gene

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

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

No ASD Table

Relevant External Links for FAT4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAT4 Gene

mRNA expression in normal human tissues for FAT4 Gene

Protein differential expression in normal tissues from HIPED for FAT4 Gene

This gene is overexpressed in Bone (31.8), Urine (16.2), and Adipocyte (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

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

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
(Bos Taurus)
Mammalia FAT4 35
  • 90.52 (n)
  • 95.52 (a)
FAT4 36
  • 95 (a)
(Canis familiaris)
Mammalia FAT4 35
  • 91.29 (n)
  • 95.74 (a)
FAT4 36
  • 96 (a)
(Mus musculus)
Mammalia Fat4 35
  • 83.41 (n)
  • 91.42 (a)
Fat4 16
Fat4 36
  • 91 (a)
(Pan troglodytes)
Mammalia FAT4 35
  • 99.44 (n)
  • 99.52 (a)
FAT4 36
  • 100 (a)
(Monodelphis domestica)
Mammalia FAT4 36
  • 87 (a)
(Ornithorhynchus anatinus)
Mammalia FAT4 36
  • 65 (a)
(Gallus gallus)
Aves FAT4 35
  • 76.49 (n)
  • 83.32 (a)
FAT4 36
  • 82 (a)
(Anolis carolinensis)
Reptilia FAT4 36
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fat4 35
  • 71.54 (n)
  • 76.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26275 35
(Danio rerio)
Actinopterygii LOC101882648 35
  • 66.68 (n)
  • 71.22 (a)
FAT4 36
  • 69 (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)
(Caenorhabditis elegans)
Secernentea cdh-4 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
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

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

Paralogs for FAT4 Gene

Paralogs for FAT4 Gene

(17) 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
rs12508222 - 125,449,492(+) CAGGG(A/G/T)ATATT reference, missense
rs1567047 - 125,451,587(-) AAGTG(C/T)CTGGC reference, missense
rs17009684 - 125,452,498(+) TATTA(A/G)AAAGC reference, missense
rs12650153 - 125,452,634(+) CCACA(A/G)TGGTG reference, missense
rs11942361 - 125,489,942(+) GTGGA(A/G)AAAGT reference, missense

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

Variation tolerance for FAT4 Gene

Residual Variation Intolerance Score: 0.108% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.85; 99.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAT4 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for FAT4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for FAT4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hennekam lymphangiectasia-lymphedema syndrome 2
  • hklls2
van maldergem syndrome 2
  • vmlds2
van maldergem syndrome
  • cerebro-facio-articular syndrome
hennekam syndrome
  • hennekam lymphangiectasia-lymphedema syndrome
intestinal lymphangiectasia
  • lymphangiectasis, intestinal
- elite association - COSMIC cancer census association via MalaCards
Search FAT4 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.

Relevant External Links for FAT4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FAT4: view

No data available for Genatlas for FAT4 Gene

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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. (PMID: 24913602) Alders M. … Hennekam R.C. (Hum. Genet. 2014) 3
  4. Giant cadherins Fat and Dachsous self-bend to organize properly spaced intercellular junctions. (PMID: 25355906) Tsukasaki Y. … Takeichi M. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. Nonsynonymous polymorphisms in FAT4 gene are associated with the risk of esophageal cancer in an Eastern Chinese population. (PMID: 23319386) Du J. … Shen H. (Int. J. Cancer 2013) 3

Products for FAT4 Gene

Sources for FAT4 Gene