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FAT4 Gene(Protein Coding)

FAT Atypical Cadherin 4

GCID:
GC04P125315
GIFtS:
54
Genes Participants
UDN Logo

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
  • Protocadherin Fat 4 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 Van Maldergem Syndrome 2 and Hennekam Lymphangiectasia-Lymphedema Syndrome 2. Among its related pathways are Hippo signaling pathway -multiple species. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAT4 Gene

Genomics for FAT4 Gene

Products:

  1. Regulatory Element

Regulatory Elements for FAT4 Gene

Enhancers for FAT4 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
GH04G125387 0.9 Ensembl ENCODE 11.1 +73.7 73714 3.3 ZNF146 JUND GATA2 JUN BHLHE40 ZNF580 FOS EP300 FAT4 GC04P125393 ENSG00000201297
GH04G125313 1 ENCODE 0.7 +0.3 285 4.9 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF143 FAT4 GC04P125363
GH04G125314 0.8 ENCODE 0.7 -2.3 -2267 0.2 SOX13 CTCF PKNOX1 ATF1 TEAD4 ARID4B CHD7 RAD21 TEAD3 ZBTB48 FAT4 GC04P125141
GH04G125323 1 Ensembl ENCODE 0.4 +8.2 8174 1.1 PKNOX1 TEAD4 SIN3A FEZF1 RAD21 GATA2 FOS MAFK NFE2L2 ZNF10 FAT4 GC04P125363
GH04G125321 0.9 Ensembl ENCODE 0.4 +6.7 6704 1.6 PKNOX1 MCM3 SIN3A NR2F2 ZNF664 JUND PRDM6 FOXP2 PRDM10 MAFK FAT4 GC04P125363
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000173011 203 3401 PKNOX1 FOXA2 ZNF133 ARID4B SIN3A FEZF1 DMAP1 GLI4 ZNF2 ZBTB7B

Transcription factor binding sites by QIAGEN in the FAT4 gene promoter:

Genomic Location for FAT4 Gene

Chromosome:
4
Start:
125,315,897 bp from pter
End:
125,492,932 bp from pter
Size:
177,036 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for FAT4 Gene

Proteins for FAT4 Gene

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  • 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

Protein Expression for FAT4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAT4 Gene

  • Glycosylation at isoforms=384, isoforms=3237, Asn393, Asn416, isoforms=3435, Asn483, Asn551, isoforms=3615, isoforms=3676, Asn721, isoforms=3825, isoforms=3880, Asn946, isoforms=31085, isoforms=31101, Asn1104, isoforms=31225, isoforms=31296, isoforms=31389, isoforms=31514, Asn1828, isoforms=2, 31899, Asn1967, Asn2119, Asn2387, isoforms=2, 32430, isoforms=2, 32921, Asn2937, isoforms=2, 33036, Asn3140, isoforms=2, 33217, Asn3392, isoforms=2, 33477, Asn3706, isoforms=2, 33758, isoforms=2, 34017, isoforms=2, 34267, and isoforms=2, 34312
  • Modification sites at PhosphoSitePlus

Other Protein References for FAT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAT4 Gene

Domains & Families for FAT4 Gene

Gene Families for FAT4 Gene

HGNC:

Protein Domains for FAT4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAT4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for FAT4 Gene

Function for FAT4 Gene

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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

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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 FAT4 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with FAT4: view

Pathways & Interactions for FAT4 Gene

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

Pathways by source for FAT4 Gene

1 KEGG pathway for FAT4 Gene

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 IEA --
GO:0003007 heart morphogenesis IEA --
GO:0007009 plasma membrane organization IEA --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with FAT4: view

No data available for SIGNOR curated interactions for FAT4 Gene

Drugs & Compounds for FAT4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FAT4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FAT4 Gene

(5) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAT4 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAT4 Gene

mRNA expression in normal human tissues for FAT4 Gene
mRNA expression by BioGPS for FAT4 GenemRNA expression by GTEx 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



NURSA nuclear receptor signaling pathways regulating expression of FAT4 Gene:

FAT4

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.

Evidence on tissue expression from TISSUES for FAT4 Gene

  • Nervous system(4.4)
  • Lymph node(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAT4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • small intestine
  • spleen
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
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
chimpanzee
(Pan troglodytes)
 Mammalia FAT4 35 34
  • 99.44 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FAT4 34 35
  • 91.29 (n)
cow
(Bos Taurus)
 Mammalia FAT4 34 35
  • 90.52 (n)
oppossum
(Monodelphis domestica)
 Mammalia FAT4 35
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fat4 34 16 35
  • 83.41 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FAT4 35
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FAT4 34 35
  • 76.49 (n)
lizard
(Anolis carolinensis)
 Reptilia FAT4 35
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fat4 34
  • 71.54 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.26275 34
zebrafish
(Danio rerio)
 Actinopterygii FAT4 35
  • 69 (a)
 OneToOne
LOC101882648 34
  • 66.68 (n)
fruit fly
(Drosophila melanogaster)
 Insecta ft 34 35
  • 46.23 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007924 34
  • 34.19 (n)
worm
(Caenorhabditis elegans)
 Secernentea cdh-4 35
  • 22 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 24 (a)
 OneToOne
Species where no ortholog for FAT4 was found in the sources mined by GeneCards:
  • 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

(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
rs199682210 Pathogenic, Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006] 125,487,373(+) TACAT(C/T)CGATG reference, missense
rs398122953 Pathogenic, Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] 125,479,743(+) TAGAT(G/T)CCCTA reference, missense
rs398122954 Pathogenic, Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] 125,490,015(+) TGGCT(A/G)CCGTG reference, missense
rs398122955 Pathogenic, Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006], Van Maldergem syndrome 2 (VMLDS2) [MIM:615546] 125,434,349(+) TTCCT(A/G)AGGAT reference, missense
VAR_071948 Hennekam lymphangiectasia-lymphedema syndrome 2 (HKLLS2) [MIM:616006]

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

Variant ID Type Subtype PubMed ID
esv3602088 CNV gain 21293372
nsv1010746 CNV gain 25217958
nsv470070 CNV loss 18288195
nsv830051 CNV loss 17160897

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)
FAT4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAT4

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

Disorders for FAT4 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

FAT4_HUMAN
  • 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)
FAT4
Human Genome Epidemiology (HuGE) Navigator
FAT4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAT4
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 22 64
  2. 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 64
  3. 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 64
  4. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. (PMID: 20351715) Liu Y. … Sullivan P.F. (Mol. Psychiatry 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

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Sources for FAT4 Gene

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