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

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; AllianceGenome:HGNC:23109
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: mouse all
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Genomic context

Location:: 4q28.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (125314955..125492932)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (128617253..128795252)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (126236110..126414087)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IL-32 aggravates metabolic disturbance in human nucleus pulposus cells by activating FAT4-mediated Hippo/YAP signaling.
Title: IL-32 aggravates metabolic disturbance in human nucleus pulposus cells by activating FAT4-mediated Hippo/YAP signaling.
FAT4 loss initiates hepatocarcinogenesis through the switching of canonical to noncanonical WNT signaling pathways.
Title: FAT4 loss initiates hepatocarcinogenesis through the switching of canonical to noncanonical WNT signaling pathways.
Prognostic Impact of FSTL3, ADAM12, and FAT4 in Patients of Colon Cancer: Clinicopathologic Study.
Title: Prognostic Impact of FSTL3, ADAM12, and FAT4 in Patients of Colon Cancer: Clinicopathologic Study.
Identification of FAT4 as a positive prognostic biomarker in DLBCL by comprehensive genomic analysis.
Title: Identification of FAT4 as a positive prognostic biomarker in DLBCL by comprehensive genomic analysis.
Structure of the planar cell polarity cadherins Fat4 and Dachsous1.
Title: Structure of the planar cell polarity cadherins Fat4 and Dachsous1.
Increased expression of FAT4 suppress metastasis of lung adenocarcinoma through regulating MAPK pathway and associated with immune cells infiltration.
Title: Increased expression of FAT4 suppress metastasis of lung adenocarcinoma through regulating MAPK pathway and associated with immune cells infiltration.
A pan-cancer analysis of FAT atypical cadherin 4 (FAT4) in human tumors.
Title: A pan-cancer analysis of FAT atypical cadherin 4 (FAT4) in human tumors.
FAT4 identified as a potential modifier of orofacial cleft laterality.
Title: FAT4 identified as a potential modifier of orofacial cleft laterality.
MiR-106b-5p regulates the migration and invasion of colorectal cancer cells by targeting FAT4.
Title: MiR-106b-5p regulates the migration and invasion of colorectal cancer cells by targeting FAT4.
FAT4 silencing promotes epithelial-to-mesenchymal transition and invasion via regulation of YAP and beta-catenin activity in ovarian cancer.
Title: FAT4 silencing promotes epithelial-to-mesenchymal transition and invasion via regulation of YAP and β-catenin activity in ovarian cancer.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-59711 (e-PCR)
- UniSTS:17154

RH119139 (e-PCR)
- UniSTS:139031

RH122065 (e-PCR)
- UniSTS:134701

D4S288 (e-PCR)
- UniSTS:76628

RH47713 (e-PCR)
- UniSTS:72310

A004Y33 (e-PCR)
- UniSTS:37771

SHGC-24083 (e-PCR)
- UniSTS:38289

SHGC-67861 (e-PCR)
- UniSTS:19109

SHGC-89043 (e-PCR)
- UniSTS:104900

RH36029 (e-PCR)
- UniSTS:48592

RH119846 (e-PCR)
- UniSTS:133591

FATJ__7643 (e-PCR)
- UniSTS:466168

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cerebral cortex development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippo signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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

NG_033865.2 RefSeqGene

Range

5002..182979

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001291285.3 → NP_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, AC092629, AC098865

UniProtKB/Swiss-Prot

Q6V0I7

UniProtKB/TrEMBL

B3KU84, X2G5I7, X2GA70

Conserved Domains (4) summary

cd11304
Location:2159 → 2254

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:3864 → 3900

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:3979 → 4142

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:4168 → 4198

EGF; EGF-like domain
NM_001291303.3 → NP_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, AC092629, AC098865

Consensus CDS

CCDS93620.1

UniProtKB/TrEMBL

A0A6Q8JR05

Related

ENSP00000377862.4, ENST00000394329.9

Conserved Domains (4) summary

cd11304
Location:2159 → 2254

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:3864 → 3900

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:3979 → 4142

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:4168 → 4198

EGF; EGF-like domain
NM_024582.6 → NP_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, AC092629, AC098865

UniProtKB/Swiss-Prot

A8K5Z6, B5MDG4, Q3LIA6, Q6V0I7, Q8TCK7, Q9H5T6

Conserved Domains (4) summary

cd11304
Location:2159 → 2254

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:3862 → 3898

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:3977 → 4140

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:4166 → 4196

EGF; EGF-like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

125314955..125492932

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416151.1 → XP_047272107.1 protocadherin Fat 4 isoform X2

UniProtKB/TrEMBL

A0A6Q8JR05
XM_047416153.1 → XP_047272109.1 protocadherin Fat 4 isoform X3
XM_011532237.3 → XP_011530539.1 protocadherin Fat 4 isoform X1

UniProtKB/TrEMBL

A0A7P0T1I0

Related

ENSP00000501473.2, ENST00000674496.2

Conserved Domains (4) summary

cd11304
Location:416 → 511

Cadherin_repeat; Cadherin tandem repeat domain

cd00054
Location:2121 → 2157

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:2236 → 2399

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:2425 → 2455

EGF; EGF-like domain