Format

Send to:

Choose Destination

FAT4 FAT atypical cadherin 4 [ Homo sapiens (human) ]

Gene ID: 79633, updated on 5-Aug-2018

Summary

Official Symbol
FAT4provided by HGNC
Official Full Name
FAT atypical cadherin 4provided by HGNC
Primary source
HGNC:HGNC:23109
See related
Ensembl:ENSG00000196159 MIM:612411; Vega:OTTHUMG00000133100
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FATJ; FAT-J; CDHF14; CDHR11; HKLLS2; VMLDS2; NBLA00548
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 2.8), ovary (RPKM 2.6) and 23 other tissues See more
Orthologs

Genomic context

See FAT4 in Genome Data Viewer
Location:
4q28.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (125314913..125492932)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (126237003..126414087)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2516 Neighboring gene ankyrin repeat domain 50 Neighboring gene VISTA enhancer hs1389 Neighboring gene microRNA 2054

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hennekam lymphangiectasia-lymphedema syndrome 2
MedGen: C4014939 OMIM: 616006 GeneReviews: Not available
Compare labs
Van Maldergem syndrome 2
MedGen: C3809875 OMIM: 615546 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
NHGRI GWA Catalog

Pathways from BioSystems

  • Hippo signaling pathway -multiple species, organism-specific biosystem (from KEGG)
    Hippo signaling pathway -multiple species, organism-specific biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...
  • Hippo signaling pathway -multiple species, conserved biosystem (from KEGG)
    Hippo signaling pathway -multiple species, conserved biosystemHippo signaling pathways control diverse aspects of cell proliferation, survival, and morphogenesis in eukaryotes. The core organization of these networks is conserved over a billion years of evoluti...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23056, FLJ77878

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
branching involved in ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
condensed mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
hippo signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ossification involved in bone maturation IEA
Inferred from Electronic Annotation
more info
 
plasma membrane organization IEA
Inferred from Electronic Annotation
more info
 
regulation of metanephric nephron tubule epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protocadherin Fat 4
Names
FAT tumor suppressor homolog 4
cadherin family member 14
cadherin-related family member 11
fat-like cadherin protein FAT-J
putative protein product of Nbla00548

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033865.1 RefSeqGene

    Range
    5001..181521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291285.1NP_001278214.1  protocadherin Fat 4 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at the junction of 3' terminal exon compared to variant 1. The resulting isoform (2) is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC079835, AK096646, AL713715, AY356402, DT932755, KJ131485, KJ131488
    UniProtKB/Swiss-Prot
    Q6V0I7
    UniProtKB/TrEMBL
    B3KU84, X2G5I7, X2GA70
    Conserved Domains (4) summary
    cd11304
    Location:21592254
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:38643900
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:39794142
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:41684198
    EGF; EGF-like domain
  2. NM_001291303.1NP_001278232.1  protocadherin Fat 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001278232.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC079835, AK096646, AL713715, AY356402, DT932755, KJ131485
    UniProtKB/Swiss-Prot
    Q6V0I7
    UniProtKB/TrEMBL
    B3KU84, X2G5I7
    Conserved Domains (4) summary
    cd11304
    Location:21592254
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:38643900
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:39794142
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:41684198
    EGF; EGF-like domain
  3. NM_024582.4NP_078858.4  protocadherin Fat 4 isoform 3 precursor

    See identical proteins and their annotated locations for NP_078858.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site at an internal exon compared to variant 1. The resulting isoform (3) is 2 aa shorter than isoform 1.
    Source sequence(s)
    AC079835, AK096646, AL713715, AY356402, DT932755
    Consensus CDS
    CCDS3732.3
    UniProtKB/Swiss-Prot
    Q6V0I7
    UniProtKB/TrEMBL
    B3KU84
    Related
    ENSP00000377862.3, OTTHUMP00000164132, ENST00000394329.7, OTTHUMT00000256765
    Conserved Domains (4) summary
    cd11304
    Location:21592254
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:38623898
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:39774140
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:41664196
    EGF; EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    125314913..125492932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532236.2XP_011530538.1  protocadherin Fat 4 isoform X1

    See identical proteins and their annotated locations for XP_011530538.1

    Conserved Domains (4) summary
    cd11304
    Location:21592254
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:38643900
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:39794142
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:41684198
    EGF; EGF-like domain
  2. XM_011532237.2XP_011530539.1  protocadherin Fat 4 isoform X2

    Related
    ENSP00000335169.5, OTTHUMP00000194778, ENST00000335110.5, OTTHUMT00000313530
    Conserved Domains (4) summary
    cd11304
    Location:416511
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:21212157
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00110
    Location:22362399
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:24252455
    EGF; EGF-like domain
Support Center